#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
TPTE	7179	broad.mit.edu	37	21	10910382	10910382	+	Silent	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr21:10910382T>C	ENST00000361285.4	-	22	1703	c.1374A>G	c.(1372-1374)acA>acG	p.T458T	TPTE_ENST00000342420.5_Silent_p.T420T|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Silent_p.T440T	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	458	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTGTCTGTTGTAATGTTAT	0.338																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1318-1320)acA>acG		transmembrane phosphatase with tensin homology							232.0	204.0	213.0					21																	10910382		2203	4300	6503	SO:0001819	synonymous_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10910382T>C	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1374A>G	21.37:g.10910382T>C						TPTE_ENST00000342420.5_Silent_p.T420T|TPTE_ENST00000361285.4_Silent_p.T458T|TPTE_ENST00000415664.2_5'UTR	p.T440T	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	21	1687	-			458			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	c.1320A>G	CCDS13560.2																																																																																				0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			6	107	0	0	0	0.000978159	0	6	107				
CSH2	1443	broad.mit.edu	37	17	61949685	61949685	+	Splice_Site	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:61949685T>A	ENST00000392886.2	-	5	608		c.e5-2		CSH2_ENST00000345366.7_Splice_Site|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Splice_Site	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2							extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						TTCCAGCCTCTGCAAAGTGAA	0.547																																						ENST00000392886.2																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.e5-2		chorionic somatomammotropin hormone 2							47.0	50.0	49.0					17																	61949685		2202	4294	6496	SO:0001630	splice_region_variant	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61949685T>A	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.457-2A>T	17.37:g.61949685T>A						CSH2_ENST00000345366.7_Splice_Site|CSH2_ENST00000560142.1_Splice_Site|CSH2_ENST00000336844.5_3'UTR		NM_020991.3	NP_066271.1	P01243	CSH_HUMAN			5	608	-								P01243|Q0VDB1|Q14407	Splice_Site	SNP	ENST00000392886.2	37		CCDS42369.1	.	.	.	.	.	.	.	.	.	.	t	10.59	1.392979	0.25118	.	.	ENSG00000213218	ENST00000345366;ENST00000392886	.	.	.	3.97	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8008	0.52126	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSH2	59303417	1.000000	0.71417	0.993000	0.49108	0.199000	0.23934	5.191000	0.65110	1.652000	0.50683	0.379000	0.24179	.		0.547	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991	Intron	42	61	0	0	0	0.00361006	0	42	61				
KRTAP5-3	387266	broad.mit.edu	37	11	1629194	1629194	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:1629194C>A	ENST00000399685.1	-	1	499	c.422G>T	c.(421-423)tGt>tTt	p.C141F		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	141	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGATGACCCACAGCCTGAGGA	0.632																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(421-423)tGt>tTt		keratin associated protein 5-3							88.0	105.0	99.0					11																	1629194		2202	4297	6499	SO:0001583	missense	387266					keratin filament		g.chr11:1629194C>A	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.422G>T	11.37:g.1629194C>A	ENSP00000382592:p.Cys141Phe						p.C141F	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	499	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	141			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.422G>T	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	C	7.150	0.583526	0.13749	.	.	ENSG00000196224	ENST00000399685	T	0.01185	5.21	3.47	3.47	0.39725	.	.	.	.	.	T	0.04634	0.0126	H	0.95043	3.615	0.09310	N	1	B	0.24823	0.112	B	0.23419	0.046	T	0.05068	-1.0908	9	0.87932	D	0	.	12.8511	0.57858	0.0:1.0:0.0:0.0	.	141	Q6L8H2	KRA53_HUMAN	F	141	ENSP00000382592:C141F	ENSP00000382592:C141F	C	-	2	0	KRTAP5-3	1585770	0.869000	0.29996	0.012000	0.15200	0.691000	0.40173	2.122000	0.41987	1.678000	0.50952	0.298000	0.19748	TGT		0.632	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			97	150	1	0	8.75711e-35	0.00361006	3.34109e-34	97	150				
PRKACB	5567	broad.mit.edu	37	1	84668432	84668432	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:84668432C>T	ENST00000370689.2	+	8	973	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S	PRKACB_ENST00000394838.2_Missense_Mutation_p.P244S|PRKACB_ENST00000394839.2_Missense_Mutation_p.P207S|PRKACB_ENST00000370680.1_Missense_Mutation_p.P243S|PRKACB_ENST00000370688.3_Missense_Mutation_p.P237S|PRKACB_ENST00000370682.3_Missense_Mutation_p.P241S|PRKACB_ENST00000370685.3_Missense_Mutation_p.P284S	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		AGCTGGCTATCCCCCATTCTT	0.373																																						ENST00000370689.2																			0				breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16						c.(709-711)Ccc>Tcc		protein kinase, cAMP-dependent, catalytic, beta							140.0	136.0	138.0					1																	84668432		2203	4300	6503	SO:0001583	missense	5567				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding	g.chr1:84668432C>T	BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.709C>T	1.37:g.84668432C>T	ENSP00000359723:p.Pro237Ser					PRKACB_ENST00000394838.2_Missense_Mutation_p.P244S|PRKACB_ENST00000394839.2_Missense_Mutation_p.P207S|PRKACB_ENST00000370682.3_Missense_Mutation_p.P241S|PRKACB_ENST00000370688.3_Missense_Mutation_p.P237S|PRKACB_ENST00000370685.3_Missense_Mutation_p.P284S|PRKACB_ENST00000370680.1_Missense_Mutation_p.P243S	p.P237S	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN		all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)	8	973	+			237			Protein kinase.		B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	ENST00000370689.2	37	c.709C>T	CCDS691.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095726	0.76870	.	.	ENSG00000142875	ENST00000370689;ENST00000370688;ENST00000370685;ENST00000370684;ENST00000394838;ENST00000370682;ENST00000370679;ENST00000370680;ENST00000394839;ENST00000370681	T;T;T;T;T;T;T;T	0.09255	3.0;3.0;3.0;3.0;3.0;3.0;3.0;3.0	5.54	5.54	0.83059	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	0.21509	0.0518	L	0.46885	1.475	0.80722	D	1	D;P;P;B;B;P;P;P;B;D;B	0.64830	0.994;0.645;0.883;0.29;0.351;0.858;0.475;0.789;0.447;0.994;0.032	D;B;P;P;B;B;B;P;P;D;B	0.81914	0.995;0.364;0.497;0.475;0.364;0.364;0.364;0.609;0.729;0.995;0.127	T	0.00461	-1.1725	10	0.56958	D	0.05	-8.5301	19.8568	0.96762	0.0:1.0:0.0:0.0	.	237;225;244;243;207;243;241;284;284;237;237	B2RB89;P22694-3;B4DKB0;B1APG3;B1APG4;P22694-6;P22694-7;P22694-2;B4E2L0;P22694;P22694-8	.;.;.;.;.;.;.;.;.;KAPCB_HUMAN;.	S	237;237;284;225;244;241;243;243;207;199	ENSP00000359723:P237S;ENSP00000359722:P237S;ENSP00000359719:P284S;ENSP00000359718:P225S;ENSP00000378314:P244S;ENSP00000359716:P241S;ENSP00000359714:P243S;ENSP00000378315:P207S	ENSP00000359713:P243S	P	+	1	0	PRKACB	84441020	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.729000	0.84864	2.764000	0.94973	0.650000	0.86243	CCC		0.373	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948		39	52	0	0	0	0.00170553	0	39	52				
FAM136A	84908	broad.mit.edu	37	2	70527991	70527991	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:70527991C>T	ENST00000037869.3	-	2	287	c.209G>A	c.(208-210)aGt>aAt	p.S70N	AC022201.5_ENST00000445084.1_RNA|FAM136A_ENST00000450256.1_3'UTR|FAM136A_ENST00000430566.1_Missense_Mutation_p.S177N	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A	70						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CTCCAGCTCACTGGTGACCAA	0.522																																						ENST00000037869.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(208-210)aGt>aAt		family with sequence similarity 136, member A							123.0	128.0	127.0					2																	70527991		2203	4300	6503	SO:0001583	missense	84908					mitochondrion	protein binding	g.chr2:70527991C>T	BC014975	CCDS1904.1	2p14	2014-02-12	2007-07-10		ENSG00000035141	ENSG00000035141			25911	protein-coding gene	gene with protein product	"""hypothetical protein FLJ14668"""					12477932	Standard	NM_032822		Approved	FLJ14668	uc002sgq.4	Q96C01	OTTHUMG00000129668	ENST00000037869.3:c.209G>A	2.37:g.70527991C>T	ENSP00000037869:p.Ser70Asn					FAM136A_ENST00000450256.1_3'UTR|FAM136A_ENST00000430566.1_Missense_Mutation_p.S177N	p.S70N	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN			2	287	-			70					Q96SS3	Missense_Mutation	SNP	ENST00000037869.3	37	c.209G>A	CCDS1904.1	.	.	.	.	.	.	.	.	.	.	C	6.050	0.377479	0.11466	.	.	ENSG00000035141	ENST00000037869;ENST00000430566;ENST00000438759	.	.	.	5.01	0.952	0.19584	.	0.412012	0.28219	N	0.016156	T	0.17109	0.0411	N	0.17723	0.515	0.20638	N	0.999873	B	0.06786	0.001	B	0.13407	0.009	T	0.24119	-1.0169	9	0.12430	T	0.62	.	5.0025	0.14271	0.0:0.5259:0.1413:0.3328	.	70	Q96C01	F136A_HUMAN	N	70;177;140	.	ENSP00000037869:S70N	S	-	2	0	FAM136A	70381495	0.023000	0.18921	0.859000	0.33776	0.074000	0.17049	0.183000	0.16919	-0.045000	0.13468	-0.378000	0.06908	AGT		0.522	FAM136A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251869.2	NM_032822		65	145	0	0	0	0.00361006	0	65	145				
PASD1	139135	broad.mit.edu	37	X	150840134	150840134	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:150840134G>T	ENST00000370357.4	+	13	1565	c.1320G>T	c.(1318-1320)ggG>ggT	p.G440G		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	440						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AACACGCTGGGCAAGTGAAGC	0.493																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1318-1320)ggG>ggT		PAS domain containing 1							152.0	123.0	133.0					X																	150840134		2203	4300	6503	SO:0001819	synonymous_variant	139135					nucleus	signal transducer activity	g.chrX:150840134G>T	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1320G>T	X.37:g.150840134G>T							p.G440G	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			13	1565	+	Acute lymphoblastic leukemia(192;6.56e-05)		440					Q3MNE0|Q69HD7|Q8N7X9	Silent	SNP	ENST00000370357.4	37	c.1320G>T	CCDS35431.1																																																																																				0.493	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		64	79	1	0	1.88225e-35	0.00361006	7.20428e-35	64	79				
OR6K2	81448	broad.mit.edu	37	1	158669657	158669657	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:158669657G>A	ENST00000359610.2	-	1	829	c.786C>T	c.(784-786)cgC>cgT	p.R262R		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGGCAGAGAAGCGTAGGTACA	0.478																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(784-786)cgC>cgT		olfactory receptor, family 6, subfamily K, member 2							106.0	101.0	103.0					1																	158669657		2203	4300	6503	SO:0001819	synonymous_variant	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669657G>A	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.786C>T	1.37:g.158669657G>A							p.R262R	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	829	-	all_hematologic(112;0.0378)		262					B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	37	c.786C>T	CCDS30902.1																																																																																				0.478	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		16	32	0	0	0	0.00316338	0	16	32				
NLRP14	338323	broad.mit.edu	37	11	7068026	7068026	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:7068026G>T	ENST00000299481.4	+	5	2432	c.2086G>T	c.(2086-2088)Gaa>Taa	p.E696*		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	696					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CCTGCATCATGAACTAAGGCA	0.373																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(2086-2088)Gaa>Taa		NLR family, pyrin domain containing 14							173.0	153.0	160.0					11																	7068026		2201	4296	6497	SO:0001587	stop_gained	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7068026G>T	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2086G>T	11.37:g.7068026G>T	ENSP00000299481:p.Glu696*						p.E696*	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	5	2432	+			696					Q7RTR6	Nonsense_Mutation	SNP	ENST00000299481.4	37	c.2086G>T	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	38	7.191401	0.98125	.	.	ENSG00000158077	ENST00000299481	.	.	.	4.52	4.52	0.55395	.	0.151104	0.31092	N	0.008275	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	12.9595	0.58449	0.0:0.0:1.0:0.0	.	.	.	.	X	696	.	ENSP00000299481:E696X	E	+	1	0	NLRP14	7024602	1.000000	0.71417	0.279000	0.24732	0.084000	0.17831	4.916000	0.63362	2.514000	0.84764	0.585000	0.79938	GAA		0.373	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		36	59	1	0	1.36161e-19	0.00428921	4.66061e-19	36	59				
OR4A5	81318	broad.mit.edu	37	11	51411675	51411675	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:51411675T>A	ENST00000319760.6	-	1	773	c.721A>T	c.(721-723)Agt>Tgt	p.S241C		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S241C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACAACGGTACTGCCGGAGCTG	0.398																																						ENST00000319760.6																			1	Substitution - Missense(1)	p.S241C(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(721-723)Agt>Tgt		olfactory receptor, family 4, subfamily A, member 5							62.0	61.0	61.0					11																	51411675		2201	4295	6496	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411675T>A	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.721A>T	11.37:g.51411675T>A	ENSP00000367664:p.Ser241Cys						p.S241C	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	773	-		all_lung(304;0.236)	241					Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.721A>T	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	1.868	-0.460993	0.04508	.	.	ENSG00000221840	ENST00000319760	T	0.37752	1.18	2.2	0.924	0.19418	GPCR, rhodopsin-like superfamily (1);	0.144004	0.31709	N	0.007190	T	0.13243	0.0321	N	0.02539	-0.55	0.09310	N	1	B	0.28820	0.224	B	0.29716	0.106	T	0.16689	-1.0394	10	0.87932	D	0	.	4.8879	0.13712	0.5093:0.0:0.0:0.4907	.	241	Q8NH83	OR4A5_HUMAN	C	241	ENSP00000367664:S241C	ENSP00000367664:S241C	S	-	1	0	OR4A5	51268251	0.000000	0.05858	0.023000	0.16930	0.003000	0.03518	-2.762000	0.00785	0.235000	0.21160	0.136000	0.15936	AGT		0.398	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		18	25	0	0	0	0.00074312	0	18	25				
ABCA4	24	broad.mit.edu	37	1	94485286	94485286	+	Missense_Mutation	SNP	G	G	A	rs62646872		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:94485286G>A	ENST00000370225.3	-	36	5134	c.5048C>T	c.(5047-5049)gCc>gTc	p.A1683V	ABCA4_ENST00000536513.1_5'Flank	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1683			Missing (in STGD1; highly reduced ATP- binding capacity).		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.A1683V(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CACGCAGATGGCAACCACAGC	0.522																																						ENST00000370225.3																			1	Substitution - Missense(1)	p.A1683V(1)	haematopoietic_and_lymphoid_tissue(1)	NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(5047-5049)gCc>gTc		ATP-binding cassette, sub-family A (ABC1), member 4							63.0	58.0	60.0					1																	94485286		2203	4299	6502	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94485286G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.5048C>T	1.37:g.94485286G>A	ENSP00000359245:p.Ala1683Val						p.A1683V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	36	5134	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1683		Missing (in STGD1; highly reduced ATP- binding capacity).			O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.5048C>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	34	5.396416	0.96009	.	.	ENSG00000198691	ENST00000546054;ENST00000370225	D	0.87179	-2.22	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.94798	0.8320	M	0.93720	3.45	0.80722	D	1	D	0.60575	0.988	D	0.65140	0.932	D	0.95394	0.8484	10	0.87932	D	0	.	19.3244	0.94256	0.0:0.0:1.0:0.0	.	1683	P78363	ABCA4_HUMAN	V	475;1683	ENSP00000359245:A1683V	ENSP00000359245:A1683V	A	-	2	0	ABCA4	94257874	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.580000	0.98207	2.794000	0.96219	0.655000	0.94253	GCC		0.522	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		7	21	0	0	0	0.000274275	0	7	21				
SERINC5	256987	broad.mit.edu	37	5	79498804	79498804	+	Silent	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:79498804G>C	ENST00000507668.2	-	2	246	c.96C>G	c.(94-96)tcC>tcG	p.S32S	SERINC5_ENST00000512972.2_Silent_p.S32S|SERINC5_ENST00000512721.1_Silent_p.S32S|SERINC5_ENST00000509193.1_Silent_p.S32S|SERINC5_ENST00000513907.1_5'UTR	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	32					myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GGGTGCTGAGGGACTGCCGAA	0.552																																						ENST00000507668.2																			0				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8						c.(94-96)tcC>tcG		serine incorporator 5							67.0	69.0	68.0					5																	79498804		2119	4235	6354	SO:0001819	synonymous_variant	256987				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane		g.chr5:79498804G>C	AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"""chromosome 5 open reading frame 12"""	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.96C>G	5.37:g.79498804G>C						SERINC5_ENST00000513907.1_5'UTR|SERINC5_ENST00000509193.1_Silent_p.S32S|SERINC5_ENST00000512721.1_Silent_p.S32S|SERINC5_ENST00000512972.2_Silent_p.S32S	p.S32S	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)	2	246	-		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)	32					B4DMH7|Q495A4|Q495A6	Silent	SNP	ENST00000507668.2	37	c.96C>G	CCDS54873.1																																																																																				0.552	SERINC5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_178276		7	5	0	0	0	0.00198382	0	7	5				
OR1Q1	158131	broad.mit.edu	37	9	125377755	125377755	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:125377755G>A	ENST00000297913.2	+	1	808	c.739G>A	c.(739-741)Gtg>Atg	p.V247M	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	247					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CCACCTCACTGTGGTGGCCAT	0.547																																						ENST00000297913.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						c.(739-741)Gtg>Atg		olfactory receptor, family 1, subfamily Q, member 1							67.0	69.0	69.0					9																	125377755		2203	4300	6503	SO:0001583	missense	158131				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125377755G>A		CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"""GPCR / Class A : Olfactory receptors"""	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.739G>A	9.37:g.125377755G>A	ENSP00000297913:p.Val247Met					RP11-64P14.7_ENST00000431442.1_RNA	p.V247M	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN			1	808	+			247					Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	ENST00000297913.2	37	c.739G>A	CCDS35125.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.912704	0.52439	.	.	ENSG00000165202	ENST00000297913	T	0.00277	8.34	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.156090	0.29940	N	0.010802	T	0.00637	0.0021	M	0.86178	2.8	0.21220	N	0.999751	D	0.57257	0.979	P	0.60345	0.873	T	0.47071	-0.9145	10	0.66056	D	0.02	-4.7968	13.4274	0.61032	0.0:0.0:0.8429:0.1571	.	247	Q15612	OR1Q1_HUMAN	M	247	ENSP00000297913:V247M	ENSP00000297913:V247M	V	+	1	0	OR1Q1	124417576	0.246000	0.23909	0.719000	0.30619	0.758000	0.43043	3.036000	0.49767	2.902000	0.99343	0.650000	0.86243	GTG		0.547	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053946.1			44	72	0	0	0	0.00361006	0	44	72				
KARS	3735	broad.mit.edu	37	16	75675607	75675607	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:75675607C>A	ENST00000302445.3	-	2	116	c.77G>T	c.(76-78)cGc>cTc	p.R26L	KARS_ENST00000319410.5_Missense_Mutation_p.R54L|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	26					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	AGCTTTCAGGCGTCTCTTCAG	0.478																																						ENST00000319410.5																			0				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18						c.(160-162)cGc>cTc		lysyl-tRNA synthetase	L-Lysine(DB00123)						139.0	123.0	128.0					16																	75675607		2198	4300	6498	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75675607C>A	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.77G>T	16.37:g.75675607C>A	ENSP00000303043:p.Arg26Leu					KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.R26L	p.R54L	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN			3	282	-			26					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.161G>T	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708645	0.68615	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.79141	-1.24;-1.14	5.92	3.95	0.45737	.	0.046992	0.85682	D	0.000000	D	0.82591	0.5070	M	0.67953	2.075	0.80722	D	1	D;P;P	0.64830	0.994;0.904;0.543	P;P;B	0.57911	0.829;0.601;0.308	T	0.82942	-0.0207	10	0.48119	T	0.1	-13.789	11.2741	0.49157	0.0:0.8032:0.1264:0.0704	.	26;54;26	Q6ZTI3;Q15046-2;Q15046	.;.;SYK_HUMAN	L	54;26	ENSP00000325448:R54L;ENSP00000303043:R26L	ENSP00000303043:R26L	R	-	2	0	KARS	74233108	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.762000	0.68809	1.511000	0.48818	-0.165000	0.13383	CGC		0.478	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		30	26	1	0	7.01153e-11	0.00127121	2.17612e-10	30	26				
SI	6476	broad.mit.edu	37	3	164704993	164704993	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:164704993G>A	ENST00000264382.3	-	45	5192	c.5130C>T	c.(5128-5130)ctC>ctT	p.L1710L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1710	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CAGCAACAATGAGCTTCATGT	0.348										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(5128-5130)ctC>ctT		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						147.0	145.0	146.0					3																	164704993		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164704993G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5130C>T	3.37:g.164704993G>A		HNSCC(35;0.089)					p.L1710L	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			45	5192	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1710			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.5130C>T	CCDS3196.1																																																																																				0.348	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		51	16	0	0	0	0.00361006	0	51	16				
PAPPA2	60676	broad.mit.edu	37	1	176738746	176738746	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:176738746G>A	ENST00000367662.3	+	16	5491	c.4327G>A	c.(4327-4329)Gaa>Aaa	p.E1443K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1443	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E1443K(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTTCTAGAAGGAAATTCTGCT	0.453																																						ENST00000367662.3																			1	Substitution - Missense(1)	p.E1443K(1)	skin(1)	NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(4327-4329)Gaa>Aaa		pappalysin 2							113.0	103.0	106.0					1																	176738746		1877	4106	5983	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176738746G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4327G>A	1.37:g.176738746G>A	ENSP00000356634:p.Glu1443Lys						p.E1443K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			16	5491	+			1443			Sushi 1.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4327G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418066	0.62622	.	.	ENSG00000116183	ENST00000367662	T	0.76186	-1.0	6.17	6.17	0.99709	Sushi/SCR/CCP (1);	0.235047	0.42294	D	0.000729	T	0.73140	0.3549	M	0.67953	2.075	0.80722	D	1	B	0.16166	0.016	B	0.12156	0.007	T	0.67856	-0.5562	10	0.49607	T	0.09	-12.1673	14.6223	0.68594	0.0696:0.0:0.9304:0.0	.	1443	Q9BXP8	PAPP2_HUMAN	K	1443	ENSP00000356634:E1443K	ENSP00000356634:E1443K	E	+	1	0	PAPPA2	175005369	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.777000	0.38604	2.941000	0.99782	0.655000	0.94253	GAA		0.453	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			13	39	0	0	0	0.00136819	0	13	39				
DOCK9	23348	broad.mit.edu	37	13	99540717	99540717	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr13:99540717A>T	ENST00000376460.1	-	17	1954	c.1874T>A	c.(1873-1875)gTg>gAg	p.V625E	DOCK9_ENST00000448493.2_Missense_Mutation_p.V637E|DOCK9_ENST00000339416.2_Missense_Mutation_p.V626E|DOCK9_ENST00000442173.1_Missense_Mutation_p.V625E	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	626					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TATGCAGGGCACAAATTCCTC	0.383																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1873-1875)gTg>gAg		dedicator of cytokinesis 9							196.0	183.0	187.0					13																	99540717		1917	4135	6052	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99540717A>T	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.1874T>A	13.37:g.99540717A>T	ENSP00000365643:p.Val625Glu					DOCK9_ENST00000339416.2_Missense_Mutation_p.V626E|DOCK9_ENST00000448493.2_Missense_Mutation_p.V637E|DOCK9_ENST00000442173.1_Missense_Mutation_p.V625E	p.V625E	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			17	1954	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		626					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.1874T>A	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.244380	0.79912	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.20463	2.44;2.52;2.1;2.07	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	L	0.46819	1.47	0.80722	D	1	D;D;B;P;D	0.76494	0.996;0.999;0.427;0.57;0.997	D;D;B;B;D	0.72982	0.969;0.979;0.119;0.312;0.929	T	0.05500	-1.0881	9	.	.	.	.	15.9192	0.79547	1.0:0.0:0.0:0.0	.	626;625;625;625;626	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	E	625;626;626;626;625;626;637;625	ENSP00000365643:V625E;ENSP00000341086:V626E;ENSP00000401958:V637E;ENSP00000406883:V625E	.	V	-	2	0	DOCK9	98338718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.919000	0.92770	2.164000	0.68074	0.533000	0.62120	GTG		0.383	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		107	37	0	0	0	0.00361006	0	107	37				
MLPH	79083	broad.mit.edu	37	2	238449173	238449173	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:238449173G>T	ENST00000264605.3	+	10	1581	c.1287G>T	c.(1285-1287)ccG>ccT	p.P429P	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Silent_p.P429P|MLPH_ENST00000409373.1_Silent_p.P361P|MLPH_ENST00000410032.1_Silent_p.P286P|MLPH_ENST00000338530.4_Silent_p.P401P	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	429					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGGCGGACCCGGAGGTAAGAC	0.637																																						ENST00000264605.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(1285-1287)ccG>ccT		melanophilin							30.0	36.0	34.0					2																	238449173		2202	4299	6501	SO:0001819	synonymous_variant	79083						metal ion binding	g.chr2:238449173G>T	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.1287G>T	2.37:g.238449173G>T						MLPH_ENST00000445024.2_Silent_p.P429P|MLPH_ENST00000409373.1_Silent_p.P361P|MLPH_ENST00000338530.4_Silent_p.P401P|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000410032.1_Silent_p.P286P	p.P429P	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	10	1581	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	429					B3KSS2|B4DKW7|G5E9G5|Q9HA71	Silent	SNP	ENST00000264605.3	37	c.1287G>T	CCDS2518.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.771|3.771	-0.047687|-0.047687	0.07407|0.07407	.|.	.|.	ENSG00000115648|ENSG00000115648	ENST00000415753|ENST00000436965	.|.	.|.	.|.	4.41|4.41	-8.82|-8.82	0.00810|0.00810	.|.	.|.	.|.	.|.	.|.	.|T	.|0.38612	.|0.1047	.|.	.|.	.|.	0.21105|0.21105	N|N	0.999783|0.999783	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.44667	.|-0.9313	.|4	.|.	.|.	.|.	0.0519|0.0519	15.1432|15.1432	0.72626|0.72626	0.1463:0.1144:0.7392:0.0|0.1463:0.1144:0.7392:0.0	.|.	.|.	.|.	.|.	X|L	117|150	.|.	.|.	G|R	+|+	1|2	0|0	MLPH|MLPH	238113912|238113912	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-1.120000|-1.120000	0.03273|0.03273	-2.579000|-2.579000	0.00463|0.00463	-1.068000|-1.068000	0.02270|0.02270	GGA|CGG		0.637	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		13	9	1	0	5.50884e-06	0.00136819	1.50675e-05	13	9				
ZBTB16	7704	broad.mit.edu	37	11	114027108	114027108	+	Silent	SNP	C	C	A	rs141621748		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:114027108C>A	ENST00000335953.4	+	3	1698	c.1318C>A	c.(1318-1320)Cgg>Agg	p.R440R	ZBTB16_ENST00000392996.2_Silent_p.R440R	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	440					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CTGCGGGAAGCGGTTCCTGGA	0.552																																						ENST00000335953.4																			0				central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6						c.(1318-1320)Cgg>Agg		zinc finger and BTB domain containing 16							169.0	126.0	141.0					11																	114027108		2201	4296	6497	SO:0001819	synonymous_variant	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:114027108C>A	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1318C>A	11.37:g.114027108C>A						ZBTB16_ENST00000392996.2_Silent_p.R440R	p.R440R	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	3	1698	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	440					Q8TAL4	Silent	SNP	ENST00000335953.4	37	c.1318C>A	CCDS8367.1																																																																																				0.552	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		18	47	1	0	0.000958276	0.000958276	0.00249027	18	47				
NOV	4856	broad.mit.edu	37	8	120430512	120430512	+	Silent	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:120430512A>T	ENST00000259526.3	+	3	752	c.525A>T	c.(523-525)ccA>ccT	p.P175P	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			TCTGTGGCCCAGATGAGGAGG	0.502																																						ENST00000259526.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21						c.(523-525)ccA>ccT		nephroblastoma overexpressed	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						143.0	133.0	136.0					8																	120430512		2203	4300	6503	SO:0001819	synonymous_variant	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120430512A>T	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.525A>T	8.37:g.120430512A>T							p.P175P	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		3	752	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		175						Silent	SNP	ENST00000259526.3	37	c.525A>T	CCDS6328.1																																																																																				0.502	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		50	78	0	0	0	0.00361006	0	50	78				
FUT9	10690	broad.mit.edu	37	6	96651430	96651430	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:96651430G>C	ENST00000302103.5	+	3	725	c.399G>C	c.(397-399)tgG>tgC	p.W133C		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	133					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AATGGATTTGGATGAATTTGG	0.458																																					Melanoma(98;1369 1476 6592 22940 26587)	ENST00000302103.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34						c.(397-399)tgG>tgC		fucosyltransferase 9 (alpha (1,3) fucosyltransferase)							93.0	84.0	87.0					6																	96651430		2203	4300	6503	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651430G>C	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.399G>C	6.37:g.96651430G>C	ENSP00000302599:p.Trp133Cys						p.W133C	NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	725	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	133					Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.399G>C	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175720	0.57692	.	.	ENSG00000172461	ENST00000302103	T	0.28255	1.62	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.64681	0.2620	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76187	-0.3051	10	0.87932	D	0	-5.6969	18.3049	0.90177	0.0:0.0:1.0:0.0	.	133	Q9Y231	FUT9_HUMAN	C	133	ENSP00000302599:W133C	ENSP00000302599:W133C	W	+	3	0	FUT9	96758151	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.643000	0.89663	0.655000	0.94253	TGG		0.458	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		15	25	0	0	0	0.00244969	0	15	25				
JMJD1C	221037	broad.mit.edu	37	10	64944479	64944479	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:64944479T>A	ENST00000399262.2	-	21	7068	c.6850A>T	c.(6850-6852)Agt>Tgt	p.S2284C	JMJD1C_ENST00000402544.1_Missense_Mutation_p.S2047C|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S2102C	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2284	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AATGGCAGACTTTTTAAAAGA	0.333																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(6850-6852)Agt>Tgt		jumonji domain containing 1C							77.0	75.0	76.0					10																	64944479		1816	4073	5889	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64944479T>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.6850A>T	10.37:g.64944479T>A	ENSP00000382204:p.Ser2284Cys					JMJD1C_ENST00000402544.1_Missense_Mutation_p.S2047C|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S2102C	p.S2284C	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			21	7068	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		2284			JmjC.		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.6850A>T	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.45|14.45	2.538342|2.538342	0.45176|0.45176	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000327520|ENST00000399262;ENST00000402544;ENST00000542921	T|T;T;T	0.76186|0.77098	-1.0|-1.07;-1.07;-1.07	5.96|5.96	2.03|2.03	0.26663|0.26663	.|Transcription factor jumonji/aspartyl beta-hydroxylase (2);	.|0.281128	.|0.44483	.|N	.|0.000447	T|T	0.59689|0.59689	0.2212|0.2212	N|N	0.17278|0.17278	0.47|0.47	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.09022	.|0.002;0.002;0.0	.|B;B;B	.|0.09377	.|0.004;0.002;0.002	T|T	0.47636|0.47636	-0.9102|-0.9102	7|10	0.21540|0.24483	T|T	0.41|0.36	-1.2672|-1.2672	11.0658|11.0658	0.47974|0.47974	0.3745:0.0:0.0:0.6255|0.3745:0.0:0.0:0.6255	.|.	.|2102;2284;2102	.|B7ZLC8;Q15652;A0T124	.|.;JHD2C_HUMAN;.	N|C	830|2284;2047;2102	ENSP00000335929:K830N|ENSP00000382204:S2284C;ENSP00000384990:S2047C;ENSP00000444682:S2102C	ENSP00000335929:K830N|ENSP00000382204:S2284C	K|S	-|-	3|1	2|0	JMJD1C|JMJD1C	64614485|64614485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.372000|3.372000	0.52387|0.52387	0.441000|0.441000	0.26529|0.26529	0.477000|0.477000	0.44152|0.44152	AAA|AGT		0.333	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		16	26	0	0	0	0.00400662	0	16	26				
OR4C3	256144	broad.mit.edu	37	11	48346810	48346810	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:48346810C>A	ENST00000319856.4	+	1	339	c.318C>A	c.(316-318)ctC>ctA	p.L106L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	79						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(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CTCCTAAACTCATTGCTGACT	0.463																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(316-318)ctC>ctA		olfactory receptor, family 4, subfamily C, member 3							202.0	191.0	195.0					11																	48346810		2201	4298	6499	SO:0001819	synonymous_variant	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346810C>A	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.318C>A	11.37:g.48346810C>A							p.L106L	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	339	+			79					B2RNF2|Q6IFB3	Silent	SNP	ENST00000319856.4	37	c.318C>A	CCDS31489.1																																																																																				0.463	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		31	241	1	0	4.16155e-14	0.00195071	1.34744e-13	31	241				
VEPH1	79674	broad.mit.edu	37	3	157146252	157146252	+	Silent	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:157146252T>C	ENST00000362010.2	-	5	862	c.555A>G	c.(553-555)ttA>ttG	p.L185L	VEPH1_ENST00000469007.1_5'Flank|VEPH1_ENST00000392832.2_Silent_p.L185L|VEPH1_ENST00000392833.2_Silent_p.L185L|VEPH1_ENST00000543418.1_Silent_p.L185L	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	185						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACACAGCAGGTAACACTCTCA	0.428																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(553-555)ttA>ttG		ventricular zone expressed PH domain-containing 1							142.0	127.0	132.0					3																	157146252		2203	4300	6503	SO:0001819	synonymous_variant	79674					plasma membrane		g.chr3:157146252T>C	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.555A>G	3.37:g.157146252T>C						VEPH1_ENST00000543418.1_Silent_p.L185L|VEPH1_ENST00000392833.2_Silent_p.L185L|VEPH1_ENST00000392832.2_Silent_p.L185L	p.L185L	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		5	862	-			185					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Silent	SNP	ENST00000362010.2	37	c.555A>G	CCDS3179.1																																																																																				0.428	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		40	11	0	0	0	0.00222228	0	40	11				
CAB39L	81617	broad.mit.edu	37	13	49957001	49957001	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr13:49957001C>A	ENST00000355854.4	-	2	543	c.46G>T	c.(46-48)Gaa>Taa	p.E16*	CAB39L_ENST00000409308.1_Nonsense_Mutation_p.E16*|CAB39L_ENST00000347776.5_Nonsense_Mutation_p.E16*|CAB39L_ENST00000410043.1_Nonsense_Mutation_p.E16*|CAB39L_ENST00000476943.1_5'UTR	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	16					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)		p.E16*(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		TTCACAATTTCTGCTGGATTT	0.308																																						ENST00000355854.4																			1	Substitution - Nonsense(1)	p.E16*(1)	large_intestine(1)	breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12						c.(46-48)Gaa>Taa		calcium binding protein 39-like							170.0	152.0	157.0					13																	49957001		1813	4075	5888	SO:0001587	stop_gained	81617				cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding	g.chr13:49957001C>A	AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.46G>T	13.37:g.49957001C>A	ENSP00000348113:p.Glu16*					CAB39L_ENST00000410043.1_Nonsense_Mutation_p.E16*|CAB39L_ENST00000476943.1_5'UTR|CAB39L_ENST00000347776.5_Nonsense_Mutation_p.E16*|CAB39L_ENST00000409308.1_Nonsense_Mutation_p.E16*	p.E16*	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)	2	543	-		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	16					Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Nonsense_Mutation	SNP	ENST00000355854.4	37	c.46G>T	CCDS9416.2	.	.	.	.	.	.	.	.	.	.	C	38	7.200580	0.98132	.	.	ENSG00000102547	ENST00000355854;ENST00000347776;ENST00000378341;ENST00000409308;ENST00000410043;ENST00000457041;ENST00000413278;ENST00000409082	.	.	.	5.88	5.88	0.94601	.	0.046805	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.7128	19.2196	0.93791	0.0:1.0:0.0:0.0	.	.	.	.	X	16;16;13;16;16;16;16;16	.	.	E	-	1	0	CAB39L	48855002	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.327000	0.79147	2.789000	0.95967	0.591000	0.81541	GAA		0.308	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044908.3	NM_030925		60	21	1	0	6.20203e-27	0.00361006	2.27218e-26	60	21				
SI	6476	broad.mit.edu	37	3	164766984	164766984	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:164766984A>G	ENST00000264382.3	-	15	1708	c.1646T>C	c.(1645-1647)gTg>gCg	p.V549A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	549	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CCAGTTCTGCACAGCATCCAT	0.338										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(1645-1647)gTg>gCg		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						96.0	88.0	91.0					3																	164766984		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164766984A>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1646T>C	3.37:g.164766984A>G	ENSP00000264382:p.Val549Ala	HNSCC(35;0.089)					p.V549A	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			15	1708	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	549			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.1646T>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	8.258	0.810473	0.16537	.	.	ENSG00000090402	ENST00000264382	D	0.91792	-2.91	5.14	5.14	0.70334	Glycoside hydrolase, superfamily (1);	0.516690	0.20158	N	0.098012	D	0.90683	0.7077	M	0.79258	2.445	0.31931	N	0.612137	B	0.27192	0.171	B	0.33392	0.163	D	0.86311	0.1686	10	0.12103	T	0.63	.	9.7768	0.40623	0.8463:0.0:0.0:0.1537	.	549	P14410	SUIS_HUMAN	A	549	ENSP00000264382:V549A	ENSP00000264382:V549A	V	-	2	0	SI	166249678	0.904000	0.30761	0.982000	0.44146	0.987000	0.75469	2.890000	0.48609	2.065000	0.61736	0.377000	0.23210	GTG		0.338	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		14	27	0	0	0	0.00316338	0	14	27				
ERCC6L2	375748	broad.mit.edu	37	9	98678717	98678717	+	Splice_Site	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:98678717G>A	ENST00000288985.7	+	6	1496		c.e6+1		ERCC6L2_ENST00000466840.1_Splice_Site|ERCC6L2_ENST00000437817.1_Splice_Site	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2						DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										GGAAGACCGGGTAAGAACCGC	0.383																																						ENST00000288985.7																			0											c.e6+1		excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2							42.0	45.0	44.0					9																	98678717		2203	4300	6503	SO:0001630	splice_region_variant	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98678717G>A	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.1191+1G>A	9.37:g.98678717G>A						ERCC6L2_ENST00000466840.1_Splice_Site|ERCC6L2_ENST00000437817.1_Splice_Site		NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN			6	1496	+								A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Splice_Site	SNP	ENST00000288985.7	37		CCDS35072.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.739279	0.69304	.	.	ENSG00000182150	ENST00000405401;ENST00000288985;ENST00000437817	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.391	0.90483	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C9orf102	97718538	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	8.873000	0.92357	2.639000	0.89480	0.555000	0.69702	.		0.383	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895	Intron	26	37	0	0	0	0.000878237	0	26	37				
GRM1	2911	broad.mit.edu	37	6	146755774	146755774	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:146755774C>T	ENST00000282753.1	+	8	3662	c.3427C>T	c.(3427-3429)Cct>Tct	p.P1143S	GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.P1143S			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1143	Ser-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGATGATTCGCCTGCGCTGAC	0.662																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3427-3429)Cct>Tct		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						42.0	46.0	44.0					6																	146755774		2202	4300	6502	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755774C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3427C>T	6.37:g.146755774C>T	ENSP00000282753:p.Pro1143Ser					GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P1143S|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR	p.P1143S	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3897	+		Ovarian(120;0.0387)	1143			Ser-rich.		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.3427C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192405	0.58017	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.87334	-2.24;-2.24	5.97	5.97	0.96955	.	0.108957	0.64402	D	0.000004	D	0.82356	0.5019	L	0.46157	1.445	0.80722	D	1	P	0.42827	0.791	B	0.40864	0.342	D	0.83499	0.0074	10	0.51188	T	0.08	.	20.428	0.99075	0.0:1.0:0.0:0.0	.	1143	Q13255	GRM1_HUMAN	S	1143	ENSP00000354896:P1143S;ENSP00000282753:P1143S	ENSP00000282753:P1143S	P	+	1	0	GRM1	146797467	0.914000	0.31030	0.406000	0.26421	0.850000	0.48378	2.880000	0.48530	2.837000	0.97791	0.655000	0.94253	CCT		0.662	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		41	45	0	0	0	0.00148497	0	41	45				
NKRF	55922	broad.mit.edu	37	X	118723982	118723982	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:118723982A>T	ENST00000371527.1	-	2	2058	c.1406T>A	c.(1405-1407)gTc>gAc	p.V469D	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.V484D|NKRF_ENST00000304449.5_Missense_Mutation_p.V469D	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	469					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CCTTTCATAGACATACTCAAC	0.403																																						ENST00000371527.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1405-1407)gTc>gAc		NFKB repressing factor							102.0	98.0	100.0					X																	118723982		2203	4300	6503	SO:0001583	missense	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118723982A>T	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1406T>A	X.37:g.118723982A>T	ENSP00000360582:p.Val469Asp					NKRF_ENST00000304449.5_Missense_Mutation_p.V469D|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.V484D	p.V469D	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN			2	2058	-			469					G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	c.1406T>A	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	A	4.952	0.176824	0.09443	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.76839	-1.05;-1.05;-1.05	5.49	5.49	0.81192	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.115183	0.64402	D	0.000014	T	0.73361	0.3577	L	0.56769	1.78	0.80722	D	1	B	0.28258	0.205	B	0.21546	0.035	T	0.71318	-0.4629	10	0.41790	T	0.15	-7.4036	13.7324	0.62797	1.0:0.0:0.0:0.0	.	469	O15226	NKRF_HUMAN	D	469;469;484	ENSP00000360582:V469D;ENSP00000304803:V469D;ENSP00000442308:V484D	ENSP00000304803:V469D	V	-	2	0	NKRF	118608010	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	4.562000	0.60816	1.839000	0.53478	0.486000	0.48141	GTC		0.403	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		52	92	0	0	0	0.00361006	0	52	92				
ST8SIA5	29906	broad.mit.edu	37	18	44284609	44284609	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:44284609C>A	ENST00000315087.7	-	2	810	c.150G>T	c.(148-150)gaG>gaT	p.E50D	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E86D|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Intron	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	50					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAAAAGGCCCCTCATAAAATT	0.512																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(148-150)gaG>gaT		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							114.0	111.0	112.0					18																	44284609		2203	4300	6503	SO:0001583	missense	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44284609C>A	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.150G>T	18.37:g.44284609C>A	ENSP00000321343:p.Glu50Asp					ST8SIA5_ENST00000536490.1_Intron|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E86D	p.E50D	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN			2	810	-			50					B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	c.150G>T	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	C	8.471	0.857584	0.17106	.	.	ENSG00000101638	ENST00000315087;ENST00000538168	T;T	0.43294	0.95;1.11	4.48	3.61	0.41365	.	0.292551	0.37012	N	0.002286	T	0.23766	0.0575	N	0.24115	0.695	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.05699	-1.0869	10	0.15952	T	0.53	.	6.6805	0.23117	0.0:0.7146:0.0:0.2854	.	86;50	B7Z1K9;O15466	.;SIA8E_HUMAN	D	50;86	ENSP00000321343:E50D;ENSP00000445492:E86D	ENSP00000321343:E50D	E	-	3	2	ST8SIA5	42538607	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.715000	0.25822	1.024000	0.39682	0.561000	0.74099	GAG		0.512	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		7	241	1	0	0.00307968	0.00307968	0.00791729	7	241				
OR1B1	347169	broad.mit.edu	37	9	125391641	125391641	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:125391641G>A	ENST00000304833.3	-	1	211	c.174C>T	c.(172-174)caC>caT	p.H58H	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						ACATGGGTGAGTGCAGTCTGG	0.522																																						ENST00000304833.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						c.(172-174)caC>caT		olfactory receptor, family 1, subfamily B, member 1							99.0	88.0	92.0					9																	125391641		2203	4300	6503	SO:0001819	synonymous_variant	347169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125391641G>A	AC006313	CCDS35126.1	9q33.2	2012-08-09			ENSG00000171484	ENSG00000171484		"""GPCR / Class A : Olfactory receptors"""	8181	protein-coding gene	gene with protein product							Standard	NM_001004450		Approved	OR9-B	uc011lyz.2	Q8NGR6	OTTHUMG00000020616	ENST00000304833.3:c.174C>T	9.37:g.125391641G>A						RP11-64P14.7_ENST00000431442.1_RNA|RP11-64P14.7_ENST00000419604.1_RNA	p.H58H	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN			1	211	-			58					Q6IFN3	Silent	SNP	ENST00000304833.3	37	c.174C>T	CCDS35126.1																																																																																				0.522	OR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053947.2	NM_001004450		20	37	0	0	0	0.000958276	0	20	37				
SLC4A11	83959	broad.mit.edu	37	20	3210334	3210334	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr20:3210334G>A	ENST00000380056.3	-	13	1673	c.1626C>T	c.(1624-1626)gcC>gcT	p.A542A	SLC4A11_ENST00000488544.1_5'UTR|SLC4A11_ENST00000539553.2_Silent_p.A526A|SLC4A11_ENST00000380059.3_Silent_p.A569A	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	542	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CGTTGAGGCTGGCGCCGAGGC	0.612																																					NSCLC(190;922 2139 10266 10292 38692)	ENST00000380059.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						c.(1705-1707)gcC>gcT		solute carrier family 4, sodium borate transporter, member 11							71.0	72.0	72.0					20																	3210334		2203	4300	6503	SO:0001819	synonymous_variant	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3210334G>A	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1626C>T	20.37:g.3210334G>A						SLC4A11_ENST00000380056.3_Silent_p.A542A|SLC4A11_ENST00000539553.1_Silent_p.A526A|SLC4A11_ENST00000474451.1_5'UTR	p.A569A	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN			14	1808	-			542			Membrane (bicarbonate transporter).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	c.1707C>T	CCDS13052.1																																																																																				0.612	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			26	26	0	0	0	0.00395357	0	26	26				
CTC-260E6.6	0	broad.mit.edu	37	19	20370044	20370044	+	RNA	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:20370044G>A	ENST00000593655.1	-	0	199																											AGGATGATGCGGAAAAACTTC	0.423																																						ENST00000593655.1																			0																																																			0							g.chr19:20370044G>A																													19.37:g.20370044G>A														0	199	-									RNA	SNP	ENST00000593655.1	37																																																																																						0.423	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			20	13	0	0	0	0.00121646	0	20	13				
ART4	420	broad.mit.edu	37	12	14996007	14996007	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:14996007G>T	ENST00000228936.4	-	1	422	c.41C>A	c.(40-42)cCa>cAa	p.P14Q	RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 (Dombrock blood group)	14					arginine metabolic process (GO:0006525)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						TACAGTAGTTGGGAGAAGAAT	0.507																																						ENST00000228936.4																			0				large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						c.(40-42)cCa>cAa		ADP-ribosyltransferase 4							154.0	130.0	138.0					12																	14996007		2203	4300	6503	SO:0001583	missense	420				arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	g.chr12:14996007G>T	X95826	CCDS8668.1	12q13.2-q13.3	2014-07-18	2014-01-02	2006-01-12	ENSG00000111339	ENSG00000111339		"""CD molecules"", ""Blood group antigens"""	726	protein-coding gene	gene with protein product		110600	"""Dombrock blood group"", ""ADP-ribosyltransferase 4 (DO blood group)"", ""ADP-ribosyltransferase 4"""	DO		9119374	Standard	NM_021071		Approved	DOK1, CD297	uc001rcl.1	Q93070	OTTHUMG00000168738	ENST00000228936.4:c.41C>A	12.37:g.14996007G>T	ENSP00000228936:p.Pro14Gln					RP11-233G1.4_ENST00000444324.2_RNA|C12orf60_ENST00000527783.1_Intron	p.P14Q	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN			1	422	-			14					Q9BZ50|Q9BZ51|Q9HB06	Missense_Mutation	SNP	ENST00000228936.4	37	c.41C>A	CCDS8668.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.567018	0.45694	.	.	ENSG00000111339	ENST00000228936;ENST00000430826	T	0.07021	3.23	4.15	1.18	0.20946	.	1.479250	0.04138	N	0.319107	T	0.15782	0.0380	L	0.29908	0.895	0.09310	N	1	P;D	0.63880	0.718;0.993	B;P	0.55161	0.168;0.77	T	0.46359	-0.9197	10	0.87932	D	0	-4.2058	12.1883	0.54252	0.0:0.565:0.435:0.0	.	14;14	A8K6J7;Q93070	.;NAR4_HUMAN	Q	14	ENSP00000228936:P14Q	ENSP00000228936:P14Q	P	-	2	0	ART4	14887274	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.027000	0.13621	0.257000	0.21650	0.650000	0.86243	CCA		0.507	ART4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400859.1	NM_021071		74	51	1	0	2.10938e-32	0.00361006	7.99695e-32	74	51				
AOX1	316	broad.mit.edu	37	2	201507394	201507394	+	Missense_Mutation	SNP	G	G	A	rs139407288		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:201507394G>A	ENST00000374700.2	+	25	2958	c.2717G>A	c.(2716-2718)cGg>cAg	p.R906Q	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	906					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTCCGCTGCCGGGGTTGGGCA	0.473																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(2716-2718)cGg>cAg		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	74.0	71.0	72.0		2717	4.2	1.0	2	dbSNP_134	72	0,8600		0,0,4300	yes	missense	AOX1	NM_001159.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	906/1339	201507394	1,13005	2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201507394G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2717G>A	2.37:g.201507394G>A	ENSP00000363832:p.Arg906Gln					AOX1_ENST00000485106.1_3'UTR	p.R906Q	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			25	2958	+			906					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.2717G>A	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519498	0.44866	2.27E-4	0.0	ENSG00000138356	ENST00000374700	T	0.36878	1.23	5.07	4.2	0.49525	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.518589	0.20250	N	0.096084	T	0.28300	0.0699	L	0.49256	1.55	0.38832	D	0.955866	B	0.28933	0.228	B	0.22753	0.041	T	0.09271	-1.0682	10	0.21540	T	0.41	-21.6975	8.9446	0.35751	0.0766:0.2669:0.6564:0.0	.	906	Q06278	ADO_HUMAN	Q	906	ENSP00000363832:R906Q	ENSP00000363832:R906Q	R	+	2	0	AOX1	201215639	0.147000	0.22687	0.988000	0.46212	0.887000	0.51463	1.134000	0.31442	1.377000	0.46286	0.549000	0.68633	CGG		0.473	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		22	37	0	0	0	0.00188189	0	22	37				
HHIPL1	84439	broad.mit.edu	37	14	100119179	100119179	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:100119179G>A	ENST00000330710.5	+	2	972	c.874G>A	c.(874-876)Gag>Aag	p.E292K	HHIPL1_ENST00000357223.2_Missense_Mutation_p.E292K	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	292					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CGAGGATGACGAGAACGCCGT	0.607																																						ENST00000330710.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(874-876)Gag>Aag		HHIP-like 1																																				SO:0001583	missense	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100119179G>A	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.874G>A	14.37:g.100119179G>A	ENSP00000330601:p.Glu292Lys					HHIPL1_ENST00000357223.2_Missense_Mutation_p.E292K	p.E292K	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN			2	972	+		Melanoma(154;0.128)	292					A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	c.874G>A	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	a	0.381	-0.928621	0.02359	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.11277	2.79;2.79	4.61	-2.85	0.05734	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.407810	0.26784	N	0.022507	T	0.04588	0.0125	N	0.22421	0.69	0.26756	N	0.970107	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.003	T	0.44406	-0.9330	10	0.07030	T	0.85	.	6.5849	0.22614	0.6654:0.1526:0.1819:0.0	.	292;292	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	K	292	ENSP00000330601:E292K;ENSP00000349757:E292K	ENSP00000330601:E292K	E	+	1	0	HHIPL1	99188932	0.068000	0.21057	0.013000	0.15412	0.237000	0.25408	0.375000	0.20518	-0.421000	0.07416	-0.222000	0.12452	GAG		0.607	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		12	9	0	0	0	0.00136819	0	12	9				
NEDD4	4734	broad.mit.edu	37	15	56130375	56130375	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:56130375G>C	ENST00000508342.1	-	19	3687	c.3388C>G	c.(3388-3390)Cat>Gat	p.H1130D	NEDD4_ENST00000506154.1_Missense_Mutation_p.H1114D|NEDD4_ENST00000435532.3_Missense_Mutation_p.H711D|NEDD4_ENST00000338963.2_Missense_Mutation_p.H1058D	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1130	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TCATGTTGATGTGTCTAAAAT	0.244																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(3388-3390)Cat>Gat		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							46.0	45.0	45.0					15																	56130375		2172	4279	6451	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56130375G>C	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3388C>G	15.37:g.56130375G>C	ENSP00000424827:p.His1130Asp					NEDD4_ENST00000338963.2_Missense_Mutation_p.H1058D|NEDD4_ENST00000506154.1_Missense_Mutation_p.H1114D|NEDD4_ENST00000435532.3_Missense_Mutation_p.H711D	p.H1130D			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	19	3687	-			1130			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.3388C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.63|14.63	2.593214|2.593214	0.46214|0.46214	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154|ENST00000508871	T;T;T;T|.	0.56444|.	0.46;0.46;0.46;0.46|.	5.8|5.8	4.88|4.88	0.63580|0.63580	HECT (4);|.	0.045299|0.045299	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.51415|0.51415	0.1673|0.1673	N|N	0.25144|0.25144	0.715|0.715	0.80722|0.80722	D|D	1|1	D;B;B;B|.	0.59767|.	0.986;0.032;0.175;0.279|.	P;B;B;B|.	0.52710|.	0.707;0.09;0.321;0.309|.	T|T	0.43572|0.43572	-0.9383|-0.9383	10|6	0.45353|.	T|.	0.12|.	.|.	14.2645|14.2645	0.66107|0.66107	0.0721:0.0:0.9279:0.0|0.0721:0.0:0.9279:0.0	.|.	1114;711;1130;1058|.	P46934-2;P46934-4;P46934;P46934-3|.	.;.;NEDD4_HUMAN;.|.	D|Q	1130;711;1058;1114|720	ENSP00000424827:H1130D;ENSP00000410613:H711D;ENSP00000345530:H1058D;ENSP00000422705:H1114D|.	ENSP00000345530:H1058D|.	H|H	-|-	1|3	0|2	NEDD4|NEDD4	53917667|53917667	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	5.400000|5.400000	0.66320|0.66320	2.732000|2.732000	0.93576|0.93576	0.650000|0.650000	0.86243|0.86243	CAT|CAC		0.244	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		2	9	0	0	0	6.4e-05	0	2	9				
ZNF641	121274	broad.mit.edu	37	12	48738456	48738456	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:48738456T>C	ENST00000544117.2	-	5	1196	c.488A>G	c.(487-489)gAa>gGa	p.E163G	ZNF641_ENST00000448928.3_Missense_Mutation_p.E140G|ZNF641_ENST00000301042.3_Missense_Mutation_p.E163G|ZNF641_ENST00000547026.1_Missense_Mutation_p.E149G			Q96N77	ZN641_HUMAN	zinc finger protein 641	163	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TTCTCCTCCTTCTAGTTGAGA	0.438																																						ENST00000544117.2																			0				breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						c.(487-489)gAa>gGa		zinc finger protein 641							112.0	102.0	105.0					12																	48738456		2203	4300	6503	SO:0001583	missense	121274				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr12:48738456T>C	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"""Zinc fingers, C2H2-type"", ""-"""	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.488A>G	12.37:g.48738456T>C	ENSP00000437832:p.Glu163Gly					ZNF641_ENST00000448928.3_Missense_Mutation_p.E140G|ZNF641_ENST00000547026.1_Missense_Mutation_p.E149G|ZNF641_ENST00000301042.3_Missense_Mutation_p.E163G	p.E163G			Q96N77	ZN641_HUMAN			5	1196	-			163			KRAB.		B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Missense_Mutation	SNP	ENST00000544117.2	37	c.488A>G	CCDS8763.1	.	.	.	.	.	.	.	.	.	.	T	15.68	2.905355	0.52333	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000448928;ENST00000547026;ENST00000549125	T;T;T;T	0.11385	5.25;5.25;2.78;5.25	5.64	4.49	0.54785	Krueppel-associated box (3);	0.182431	0.39083	N	0.001477	T	0.14830	0.0358	M	0.73753	2.245	0.39343	D	0.965629	B;B	0.22080	0.064;0.009	B;B	0.17722	0.019;0.005	T	0.02294	-1.1181	10	0.54805	T	0.06	.	9.9384	0.41565	0.0:0.0809:0.0:0.9191	.	140;163	B4DNU5;Q96N77	.;ZN641_HUMAN	G	163;163;140;149;75	ENSP00000301042:E163G;ENSP00000437832:E163G;ENSP00000394627:E140G;ENSP00000449974:E149G	ENSP00000301042:E163G	E	-	2	0	ZNF641	47024723	0.405000	0.25336	1.000000	0.80357	0.998000	0.95712	1.730000	0.38125	1.075000	0.40932	0.459000	0.35465	GAA		0.438	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		68	13	0	0	0	0.00361006	0	68	13				
MID2	11043	broad.mit.edu	37	X	107097876	107097876	+	Missense_Mutation	SNP	G	G	C	rs200061253		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:107097876G>C	ENST00000262843.6	+	3	1306	c.758G>C	c.(757-759)cGc>cCc	p.R253P	MID2_ENST00000443968.2_Missense_Mutation_p.R253P	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	253					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CTGGTTAAGCGCAACAGCGAA	0.448																																						ENST00000262843.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(757-759)cGc>cCc		midline 2							143.0	116.0	125.0					X																	107097876		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107097876G>C		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.758G>C	X.37:g.107097876G>C	ENSP00000262843:p.Arg253Pro					MID2_ENST00000443968.2_Missense_Mutation_p.R253P	p.R253P	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN			3	1306	+			253					A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.758G>C	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826098	0.71143	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.62232	0.04;0.06	5.17	5.17	0.71159	B-box, C-terminal (1);	0.108387	0.64402	D	0.000013	T	0.66877	0.2834	L	0.56769	1.78	0.41794	D	0.989887	P;D	0.54397	0.942;0.966	P;P	0.54460	0.593;0.753	T	0.70543	-0.4843	10	0.72032	D	0.01	.	8.4373	0.32795	0.1042:0.0:0.8958:0.0	.	253;253	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	P	253	ENSP00000262843:R253P;ENSP00000413976:R253P	ENSP00000262843:R253P	R	+	2	0	MID2	106984532	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.109000	0.77062	2.388000	0.81334	0.600000	0.82982	CGC		0.448	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		33	47	0	0	0	0.00327116	0	33	47				
OTOA	146183	broad.mit.edu	37	16	21742247	21742247	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:21742247C>T	ENST00000286149.4	+	20	2340	c.2339C>T	c.(2338-2340)aCa>aTa	p.T780I	OTOA_ENST00000388958.3_Missense_Mutation_p.T766I|OTOA_ENST00000388956.4_Missense_Mutation_p.T687I|OTOA_ENST00000388957.3_Missense_Mutation_p.T442I			Q7RTW8	OTOAN_HUMAN	otoancorin	780					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TCTATAGCCACAAAGGTAATG	0.453																																						ENST00000388958.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(2296-2298)aCa>aTa		otoancorin							22.0	19.0	20.0					16																	21742247		2190	4278	6468	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21742247C>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.2339C>T	16.37:g.21742247C>T	ENSP00000286149:p.Thr780Ile					OTOA_ENST00000388957.3_Missense_Mutation_p.T442I|OTOA_ENST00000388956.4_Missense_Mutation_p.T687I|OTOA_ENST00000286149.4_Missense_Mutation_p.T780I	p.T766I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	20	2298	+			780					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.2297C>T		.	.	.	.	.	.	.	.	.	.	C	10.97	1.500625	0.26861	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957;ENST00000338456	T;T;T;T	0.64260	2.65;2.65;2.65;-0.09	4.11	4.11	0.48088	.	0.398444	0.22655	N	0.057266	T	0.54431	0.1858	L	0.50333	1.59	0.28578	N	0.910271	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.003;0.002;0.003	T	0.50482	-0.8823	10	0.37606	T	0.19	-1.8374	12.0222	0.53350	0.0:1.0:0.0:0.0	.	780;687;442;766	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	I	766;780;687;442;175	ENSP00000373610:T766I;ENSP00000286149:T780I;ENSP00000373608:T687I;ENSP00000373609:T442I	ENSP00000286149:T780I	T	+	2	0	OTOA	21649748	0.993000	0.37304	0.997000	0.53966	0.811000	0.45836	0.736000	0.26130	2.262000	0.75019	0.609000	0.83330	ACA		0.453	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			24	27	0	0	0	0.000720815	0	24	27				
MGMT	4255	broad.mit.edu	37	10	131557583	131557583	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:131557583G>C	ENST00000306010.7	+	4	517	c.485G>C	c.(484-486)gGa>gCa	p.G162A		NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	131					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	CGAGCAGTGGGAGGAGCAATG	0.562								Direct reversal of damage																														ENST00000306010.7																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(484-486)gGa>gCa	Direct reversal of damage	O-6-methylguanine-DNA methyltransferase							96.0	98.0	97.0					10																	131557583		2203	4300	6503	SO:0001583	missense	4255							g.chr10:131557583G>C	M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.485G>C	10.37:g.131557583G>C	ENSP00000302111:p.Gly162Ala						p.G162A	NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	4	517	+		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)	162					Q5VY78	Missense_Mutation	SNP	ENST00000306010.7	37	c.485G>C	CCDS7660.2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995356	0.74703	.	.	ENSG00000170430	ENST00000306010	T	0.26223	1.75	5.53	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	L	0.52266	1.64	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.42310	-0.9459	10	0.66056	D	0.02	.	14.4934	0.67667	0.0718:0.0:0.9282:0.0	.	162	B4DEE8	.	A	162	ENSP00000302111:G162A	ENSP00000302111:G162A	G	+	2	0	MGMT	131447573	1.000000	0.71417	0.937000	0.37676	0.740000	0.42216	8.778000	0.91785	1.471000	0.48121	0.650000	0.86243	GGA		0.562	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051009.3	NM_002412		23	40	0	0	0	0.00332997	0	23	40				
MAP7D3	79649	broad.mit.edu	37	X	135323385	135323385	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:135323385C>G	ENST00000316077.9	-	5	689	c.469G>C	c.(469-471)Gat>Cat	p.D157H	MAP7D3_ENST00000370663.5_Missense_Mutation_p.D139H|MAP7D3_ENST00000370661.1_Missense_Mutation_p.D157H	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	157					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TGATAATCATCAGCAAGTCTC	0.328																																						ENST00000316077.9																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44						c.(469-471)Gat>Cat		MAP7 domain containing 3							62.0	56.0	58.0					X																	135323385		1848	4097	5945	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135323385C>G	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.469G>C	X.37:g.135323385C>G	ENSP00000318086:p.Asp157His					MAP7D3_ENST00000370661.1_Missense_Mutation_p.D157H|MAP7D3_ENST00000370663.5_Missense_Mutation_p.D139H	p.D157H	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN			5	689	-	Acute lymphoblastic leukemia(192;0.000127)		157					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.469G>C	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	C	6.076	0.382269	0.11524	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.04454	3.62;3.62;3.62;3.62	0.225	-0.451	0.12214	.	.	.	.	.	T	0.06872	0.0175	N	0.14661	0.345	0.09310	N	1	P;P;P;D	0.89917	0.928;0.926;0.878;1.0	P;P;P;D	0.71870	0.465;0.666;0.465;0.975	T	0.34675	-0.9819	8	0.51188	T	0.08	.	.	.	.	.	139;157;157;157	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	H	157;157;139;157	ENSP00000359695:D157H;ENSP00000318086:D157H;ENSP00000359697:D139H;ENSP00000359694:D157H	ENSP00000318086:D157H	D	-	1	0	MAP7D3	135151051	0.027000	0.19231	0.000000	0.03702	0.001000	0.01503	-0.661000	0.05311	-0.750000	0.04740	-0.739000	0.03532	GAT		0.328	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			23	36	0	0	0	0.000720815	0	23	36				
COLGALT1	79709	broad.mit.edu	37	19	17679367	17679367	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:17679367G>T	ENST00000252599.4	+	5	794	c.674G>T	c.(673-675)cGc>cTc	p.R225L	COLGALT1_ENST00000601354.1_3'UTR	NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	225					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										AAGCGAGACCGCCGGGGCTGC	0.617																																						ENST00000252599.4																			0											c.(673-675)cGc>cTc		collagen beta(1-O)galactosyltransferase 1							129.0	101.0	111.0					19																	17679367		2203	4300	6503	SO:0001583	missense	79709							g.chr19:17679367G>T	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.674G>T	19.37:g.17679367G>T	ENSP00000252599:p.Arg225Leu					COLGALT1_ENST00000601354.1_3'UTR	p.R225L	NM_024656.2	NP_078932.2					5	794	+								Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	37	c.674G>T	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704579	0.88924	.	.	ENSG00000130309	ENST00000252599	T	0.21031	2.03	5.05	5.05	0.67936	.	0.055724	0.64402	D	0.000001	T	0.42698	0.1214	M	0.71296	2.17	0.80722	D	1	D	0.58268	0.982	P	0.59703	0.862	T	0.39035	-0.9633	10	0.72032	D	0.01	-21.326	15.8686	0.79091	0.0:0.0:1.0:0.0	.	225	Q8NBJ5	GT251_HUMAN	L	225	ENSP00000252599:R225L	ENSP00000252599:R225L	R	+	2	0	GLT25D1	17540367	1.000000	0.71417	0.959000	0.39883	0.993000	0.82548	9.674000	0.98633	2.356000	0.79943	0.491000	0.48974	CGC		0.617	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		25	43	1	0	1.77063e-15	0.000878237	5.90868e-15	25	43				
MUSK	4593	broad.mit.edu	37	9	113459720	113459720	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:113459720C>T	ENST00000374448.4	+	5	736	c.602C>T	c.(601-603)tCc>tTc	p.S201F	MUSK_ENST00000189978.5_Missense_Mutation_p.S201F|MUSK_ENST00000374439.1_Missense_Mutation_p.S83F|MUSK_ENST00000416899.2_Missense_Mutation_p.S201F|MUSK_ENST00000374440.3_Missense_Mutation_p.S83F	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	201	Ig-like 2.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ACAGCATATTCCAAAGTGGTG	0.507																																						ENST00000416899.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						c.(601-603)tCc>tTc		muscle, skeletal, receptor tyrosine kinase							105.0	108.0	107.0					9																	113459720		1959	4144	6103	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113459720C>T	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.602C>T	9.37:g.113459720C>T	ENSP00000363571:p.Ser201Phe					MUSK_ENST00000374439.1_Missense_Mutation_p.S83F|MUSK_ENST00000374440.3_Missense_Mutation_p.S83F|MUSK_ENST00000374448.4_Missense_Mutation_p.S201F|MUSK_ENST00000189978.5_Missense_Mutation_p.S201F	p.S201F			O15146	MUSK_HUMAN			5	728	+			201			Ig-like 2.		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.602C>T	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148426	0.78001	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374440;ENST00000416899;ENST00000374439	T;T;T	0.68624	-0.34;-0.34;-0.34	5.82	5.82	0.92795	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86213	0.5879	M	0.91459	3.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88431	0.3035	10	0.72032	D	0.01	.	18.6627	0.91477	0.0:1.0:0.0:0.0	.	201;201	O15146;F5H6T2	MUSK_HUMAN;.	F	201;201;201;201;201;83;201;83	ENSP00000363571:S201F;ENSP00000363563:S83F;ENSP00000363562:S83F	ENSP00000189978:S201F	S	+	2	0	MUSK	112499541	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	6.270000	0.72563	2.740000	0.93945	0.655000	0.94253	TCC		0.507	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				46	42	0	0	0	0.0025221	0	46	42				
PER1	5187	broad.mit.edu	37	17	8044497	8044497	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:8044497G>A	ENST00000317276.4	-	23	3999	c.3762C>T	c.(3760-3762)gcC>gcT	p.A1254A	PER1_ENST00000581082.1_Silent_p.A1231A|PER1_ENST00000578089.1_5'Flank	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1254	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCCGCCTTGGGCCTCCTCGC	0.637			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"""AML, CMML"""		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3760-3762)gcC>gcT	Other conserved DNA damage response genes	period circadian clock 1							150.0	162.0	158.0					17																	8044497		2203	4300	6503	SO:0001819	synonymous_variant	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8044497G>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3762C>T	17.37:g.8044497G>A						PER1_ENST00000581082.1_Silent_p.A1231A	p.A1254A	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			23	3999	-			1254			CRY binding domain (By similarity).		B2RPA8|B4DI49|D3DTR3	Silent	SNP	ENST00000317276.4	37	c.3762C>T	CCDS11131.1																																																																																				0.637	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			118	56	0	0	0	0.00361006	0	118	56				
CIB4	130106	broad.mit.edu	37	2	26852280	26852280	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:26852280G>T	ENST00000288861.4	-	3	237	c.184C>A	c.(184-186)Cgg>Agg	p.R62R		NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN	calcium and integrin binding family member 4	62	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTCACCCGCAGAGCTGGC	0.622																																						ENST00000288861.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10						c.(184-186)Cgg>Agg		calcium and integrin binding family member 4							69.0	49.0	56.0					2																	26852280		2201	4290	6491	SO:0001819	synonymous_variant	130106						calcium ion binding	g.chr2:26852280G>T		CCDS33160.1	2p23.3	2013-01-10			ENSG00000157884	ENSG00000157884		"""EF-hand domain containing"""	33703	protein-coding gene	gene with protein product		610646				15574431	Standard	NM_001029881		Approved		uc002rhm.3	A0PJX0	OTTHUMG00000151993	ENST00000288861.4:c.184C>A	2.37:g.26852280G>T							p.R62R	NM_001029881.1	NP_001025052.1	A0PJX0	CIB4_HUMAN			3	237	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		62			EF-hand 1.		B2RU18	Silent	SNP	ENST00000288861.4	37	c.184C>A	CCDS33160.1																																																																																				0.622	CIB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324709.1			4	9	1	0	0.000602214	0.000602214	0.00157179	4	9				
SLC4A1AP	22950	broad.mit.edu	37	2	27898488	27898488	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:27898488G>A	ENST00000326019.6	+	6	1717	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	479						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					TGGCCTGATTGAGAAGAAGCG	0.413																																						ENST00000326019.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23						c.(1435-1437)Gag>Aag		solute carrier family 4 (anion exchanger), member 1, adaptor protein							101.0	103.0	102.0					2																	27898488		2203	4300	6503	SO:0001583	missense	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27898488G>A		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1435G>A	2.37:g.27898488G>A	ENSP00000323837:p.Glu479Lys						p.E479K	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN			6	1717	+	Acute lymphoblastic leukemia(172;0.155)		479					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	c.1435G>A	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	G	36	5.631768	0.96682	.	.	ENSG00000163798	ENST00000326019	T	0.38560	1.13	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.67487	0.2898	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.69339	-0.5171	10	0.59425	D	0.04	-21.5032	19.5643	0.95386	0.0:0.0:1.0:0.0	.	479	Q9BWU0	NADAP_HUMAN	K	479	ENSP00000323837:E479K	ENSP00000323837:E479K	E	+	1	0	SLC4A1AP	27751992	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.148000	0.94652	2.639000	0.89480	0.555000	0.69702	GAG		0.413	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		12	36	0	0	0	0.00185496	0	12	36				
PABPC5	140886	broad.mit.edu	37	X	90690670	90690670	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:90690670G>T	ENST00000312600.3	+	2	308	c.94G>T	c.(94-96)Gac>Tac	p.D32Y	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	32	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TGTCACCGAGGACATGCTCTA	0.567																																						ENST00000312600.3																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						c.(94-96)Gac>Tac		poly(A) binding protein, cytoplasmic 5							66.0	51.0	56.0					X																	90690670		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90690670G>T	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.94G>T	X.37:g.90690670G>T	ENSP00000308012:p.Asp32Tyr					PABPC5_ENST00000373105.1_Intron	p.D32Y	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN			2	308	+			32			RRM 1.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.94G>T	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550684	0.65311	.	.	ENSG00000174740	ENST00000312600	T	0.19105	2.17	4.43	4.43	0.53597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.047488	0.85682	D	0.000000	T	0.38585	0.1046	L	0.48260	1.515	0.52501	D	0.999954	D	0.89917	1.0	D	0.79108	0.992	T	0.15407	-1.0438	10	0.87932	D	0	.	13.8905	0.63736	0.0:0.0:1.0:0.0	.	32	Q96DU9	PABP5_HUMAN	Y	32	ENSP00000308012:D32Y	ENSP00000308012:D32Y	D	+	1	0	PABPC5	90577326	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.240000	0.95396	2.450000	0.82876	0.600000	0.82982	GAC		0.567	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		13	28	1	0	4.36969e-10	0.00185496	1.34573e-09	13	28				
ACKR3	57007	broad.mit.edu	37	2	237489774	237489774	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:237489774C>T	ENST00000272928.3	+	2	976	c.666C>T	c.(664-666)gcC>gcT	p.A222A		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	222					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										TGGGCTTTGCCGTTCCCTTCT	0.567																																						ENST00000272928.3																			0											c.(664-666)gcC>gcT		atypical chemokine receptor 3							120.0	101.0	108.0					2																	237489774		2203	4300	6503	SO:0001819	synonymous_variant	57007							g.chr2:237489774C>T	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.666C>T	2.37:g.237489774C>T							p.A222A	NM_020311.2	NP_064707.1					2	976	+								A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Silent	SNP	ENST00000272928.3	37	c.666C>T	CCDS2516.1																																																																																				0.567	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		52	53	0	0	0	0.00361006	0	52	53				
MAPRE2	10982	broad.mit.edu	37	18	32706962	32706962	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:32706962C>T	ENST00000300249.5	+	5	841	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S	MAPRE2_ENST00000413393.1_Missense_Mutation_p.P178S|MAPRE2_ENST00000588910.1_Missense_Mutation_p.P221S|MAPRE2_ENST00000589699.1_Missense_Mutation_p.P178S|MAPRE2_ENST00000538170.2_Missense_Mutation_p.P168S|MAPRE2_ENST00000436190.2_Missense_Mutation_p.P209S	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	221	DCTN1-binding.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						ACCTTCTCGACCCTCATCAGC	0.418																																						ENST00000436190.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(625-627)Ccc>Tcc		microtubule-associated protein, RP/EB family, member 2							109.0	96.0	100.0					18																	32706962		2203	4300	6503	SO:0001583	missense	10982				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding	g.chr18:32706962C>T	X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"""APC-binding protein EB1"""	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.661C>T	18.37:g.32706962C>T	ENSP00000300249:p.Pro221Ser					MAPRE2_ENST00000300249.5_Missense_Mutation_p.P221S|MAPRE2_ENST00000589699.1_Missense_Mutation_p.P178S|MAPRE2_ENST00000413393.1_Missense_Mutation_p.P178S|MAPRE2_ENST00000538170.2_Missense_Mutation_p.P168S|MAPRE2_ENST00000588910.1_Missense_Mutation_p.P221S	p.P209S	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN			6	899	+			221			DCTN1-binding.		B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Missense_Mutation	SNP	ENST00000300249.5	37	c.625C>T	CCDS11910.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410943	0.62399	.	.	ENSG00000166974	ENST00000413393;ENST00000436190;ENST00000300249;ENST00000538170	T;T;T;T	0.46819	0.89;0.87;0.87;0.86	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.63745	0.2537	L	0.49778	1.585	0.80722	D	1	B;B;B;D	0.67145	0.112;0.335;0.349;0.996	B;B;B;D	0.75484	0.05;0.054;0.079;0.986	T	0.53472	-0.8434	10	0.24483	T	0.36	-12.3451	18.8257	0.92117	0.0:1.0:0.0:0.0	.	209;168;221;221	E9PHR3;F5H1V8;Q15555;Q15555-2	.;.;MARE2_HUMAN;.	S	178;209;221;168	ENSP00000396074:P178S;ENSP00000407723:P209S;ENSP00000300249:P221S;ENSP00000446343:P168S	ENSP00000300249:P221S	P	+	1	0	MAPRE2	30960960	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.945000	0.75947	2.885000	0.99019	0.650000	0.86243	CCC		0.418	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	NM_014268		66	33	0	0	0	0.00361006	0	66	33				
DSCR3	10311	broad.mit.edu	37	21	38593591	38593591	+	IGR	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr21:38593591C>A	ENST00000309117.6	-	0	3256				DSCR9_ENST00000454482.2_lincRNA|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000399000.3_5'Flank	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3							nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						GATCCACCTCCCGCCAGGGTG	0.682																																						ENST00000454482.2																			0																				33.0	37.0	35.0					21																	38593591		2202	4298	6500	SO:0001628	intergenic_variant	257203							g.chr21:38593591C>A	D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659		21.37:g.38593591C>A								NR_026719.2						0	1198	+								B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	RNA	SNP	ENST00000309117.6	37		CCDS33553.1																																																																																				0.682	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194807.1			18	31	1	0	3.32936e-07	0.00074312	9.38488e-07	18	31				
MYOM1	8736	broad.mit.edu	37	18	3129467	3129467	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:3129467C>A	ENST00000356443.4	-	18	2890	c.2557G>T	c.(2557-2559)Gga>Tga	p.G853*	MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000261606.7_Intron|MYOM1_ENST00000400569.3_Nonsense_Mutation_p.G853*	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	853					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCGGTTAGTCCACCAGGCTCA	0.567											OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356443.4																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2557-2559)Gga>Tga		myomesin 1							87.0	91.0	89.0					18																	3129467		1998	4177	6175	SO:0001587	stop_gained	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3129467C>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2557G>T	18.37:g.3129467C>A	ENSP00000348821:p.Gly853*		OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	MYOM1_ENST00000261606.7_Intron|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000400569.3_Nonsense_Mutation_p.G853*	p.G853*	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			18	2890	-			853					Q14BD6|Q6H969|Q6ZUU0	Nonsense_Mutation	SNP	ENST00000356443.4	37	c.2557G>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	43	10.452117	0.99408	.	.	ENSG00000101605	ENST00000356443;ENST00000400569	.	.	.	5.78	4.9	0.64082	.	0.362691	0.27270	N	0.020136	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	16.7184	0.85404	0.0:0.8705:0.1295:0.0	.	.	.	.	X	853	.	ENSP00000348821:G853X	G	-	1	0	MYOM1	3119467	1.000000	0.71417	0.950000	0.38849	0.868000	0.49771	3.474000	0.53129	1.407000	0.46875	0.591000	0.81541	GGA		0.567	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		49	64	1	0	8.04919e-23	0.00361006	2.84452e-22	49	64				
DCHS2	54798	broad.mit.edu	37	4	155161859	155161859	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:155161859G>T	ENST00000357232.4	-	23	5823	c.5824C>A	c.(5824-5826)Cag>Aag	p.Q1942K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1942	Cadherin 17. {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)		CCAGTGTTCTGATCAATAGCA	0.383																																						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.(5824-5826)Cag>Aag		dachsous cadherin-related 2							146.0	128.0	134.0					4																	155161859		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155161859G>T	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.5824C>A	4.37:g.155161859G>T	ENSP00000349768:p.Gln1942Lys						p.Q1942K	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	23	5823	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1942			Cadherin 17.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.5824C>A	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505558	0.44558	.	.	ENSG00000197410	ENST00000357232	T	0.50277	0.75	5.96	5.96	0.96718	Cadherin (4);Cadherin-like (1);	0.822674	0.10884	N	0.623471	T	0.37999	0.1024	L	0.31207	0.915	0.80722	D	1	B	0.32283	0.362	B	0.30029	0.11	T	0.09400	-1.0676	10	0.20519	T	0.43	.	14.8126	0.70006	0.0:0.0:0.8558:0.1442	.	1942	Q6V1P9	PCD23_HUMAN	K	1942	ENSP00000349768:Q1942K	ENSP00000349768:Q1942K	Q	-	1	0	DCHS2	155381309	1.000000	0.71417	0.826000	0.32828	0.618000	0.37518	5.318000	0.65829	2.826000	0.97356	0.655000	0.94253	CAG		0.383	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		26	24	1	0	7.4402e-23	0.00395357	2.63709e-22	26	24				
KIF19	124602	broad.mit.edu	37	17	72348368	72348368	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:72348368G>T	ENST00000389916.4	+	14	2007	c.1869G>T	c.(1867-1869)ctG>ctT	p.L623L	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	623					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						ACTACAACCTGGCCGTCCCGC	0.687																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(1867-1869)ctG>ctT		kinesin family member 19							30.0	36.0	34.0					17																	72348368		1943	4136	6079	SO:0001819	synonymous_variant	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72348368G>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1869G>T	17.37:g.72348368G>T							p.L623L	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			14	2007	+			623					A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Silent	SNP	ENST00000389916.4	37	c.1869G>T	CCDS32718.2																																																																																				0.687	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		9	30	1	0	3.09899e-07	0.000274275	8.75609e-07	9	30				
PLPPR3	79948	broad.mit.edu	37	19	813188	813188	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:813188G>A	ENST00000520876.3	-	8	1617	c.1539C>T	c.(1537-1539)gcC>gcT	p.A513A	MIR3187_ENST00000583431.1_RNA|LPPR3_ENST00000359894.2_Silent_p.A541A	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		513						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										CGCGCACCCCGGCGCCGCTTT	0.746																																						ENST00000359894.2																			0											c.(1621-1623)gcC>gcT									3.0	5.0	4.0					19																	813188		1588	3601	5189	SO:0001819	synonymous_variant	79948					integral to membrane	phosphatidate phosphatase activity	g.chr19:813188G>A																												ENST00000520876.3:c.1539C>T	19.37:g.813188G>A						LPPR3_ENST00000520876.3_Silent_p.A513A	p.A541A	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN			7	1686	-			513					Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Silent	SNP	ENST00000520876.3	37	c.1623C>T	CCDS58636.1																																																																																				0.746	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3			8	9	0	0	0	0.000274275	0	8	9				
GPR45	11250	broad.mit.edu	37	2	105858978	105858978	+	Silent	SNP	G	G	A	rs141451236		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:105858978G>A	ENST00000258456.1	+	1	779	c.663G>A	c.(661-663)acG>acA	p.T221T		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TCCTCAACACGGTCCGCAAGA	0.677																																						ENST00000258456.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						c.(661-663)acG>acA		G protein-coupled receptor 45		G		0,4406		0,0,2203	61.0	60.0	60.0		663	-5.5	0.7	2	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPR45	NM_007227.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		221/373	105858978	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858978G>A	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.663G>A	2.37:g.105858978G>A							p.T221T	NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN			1	779	+			221					Q6NWS4|Q6NXU6	Silent	SNP	ENST00000258456.1	37	c.663G>A	CCDS2066.1																																																																																				0.677	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		29	56	0	0	0	0.00106085	0	29	56				
LCE2B	26239	broad.mit.edu	37	1	152659536	152659536	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:152659536C>T	ENST00000368780.3	+	2	271	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L	LCE2B_ENST00000417924.2_Silent_p.L73L	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	73	Cys-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCTGCTGCCTGAGCCACCA	0.662																																						ENST00000368780.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.(217-219)Ctg>Ttg		late cornified envelope 2B							58.0	73.0	68.0					1																	152659536		2203	4300	6503	SO:0001819	synonymous_variant	26239				keratinization			g.chr1:152659536C>T	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"""Late cornified envelopes"""	16610	protein-coding gene	gene with protein product		612610	"""small proline rich-like (epidermal differentiation complex) 1B"""	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.217C>T	1.37:g.152659536C>T						LCE2B_ENST00000417924.2_Silent_p.L73L	p.L73L	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	271	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		73			Cys-rich.		Q5TA80	Silent	SNP	ENST00000368780.3	37	c.217C>T	CCDS1020.1																																																																																				0.662	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		102	119	0	0	0	0.00361006	0	102	119				
TRIM39	56658	broad.mit.edu	37	6	30297214	30297214	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:30297214C>T	ENST00000396547.1	+	2	280	c.120C>T	c.(118-120)gtC>gtT	p.V40V	TRIM39_ENST00000540416.1_Silent_p.V40V|TRIM39-RPP21_ENST00000513556.1_5'Flank|TRIM39_ENST00000376659.5_Silent_p.V40V|TRIM39_ENST00000396548.1_Silent_p.V40V|TRIM39_ENST00000396551.3_Silent_p.V40V|HCG18_ENST00000413358.2_RNA|HCG18_ENST00000412685.2_RNA|TRIM39_ENST00000376656.4_Silent_p.V40V|HCG18_ENST00000426882.1_RNA			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	40					apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of apoptotic signaling pathway (GO:2001235)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			ovary(3)	3						AGGAACCTGTCATCATTGAGT	0.562																																						ENST00000376659.5																			0				ovary(3)	3						c.(118-120)gtC>gtT		tripartite motif containing 39							194.0	189.0	191.0					6																	30297214		1510	2709	4219	SO:0001819	synonymous_variant	56658							g.chr6:30297214C>T	BC034985	CCDS34377.1, CCDS34378.1	6p22.1	2013-01-09	2011-01-25	2002-06-07	ENSG00000204599	ENSG00000204599		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10065	protein-coding gene	gene with protein product		605700	"""ring finger protein 23"", ""tripartite motif-containing 39"""	RNF23		11006080	Standard	NM_021253		Approved			Q9HCM9	OTTHUMG00000031066	ENST00000396547.1:c.120C>T	6.37:g.30297214C>T						TRIM39_ENST00000396551.3_Silent_p.V40V|TRIM39_ENST00000396547.1_Silent_p.V40V|TRIM39_ENST00000376656.4_Silent_p.V40V|TRIM39_ENST00000540416.1_Silent_p.V40V|TRIM39_ENST00000396548.1_Silent_p.V40V	p.V40V	NM_172016.2	NP_742013.1					3	718	+								Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Silent	SNP	ENST00000396547.1	37	c.120C>T	CCDS34377.1																																																																																				0.562	TRIM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076086.2	NM_172016		141	114	0	0	0	0.00361006	0	141	114				
ACOT4	122970	broad.mit.edu	37	14	74060510	74060510	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:74060510C>T	ENST00000326303.4	+	2	816	c.562C>T	c.(562-564)Cta>Tta	p.L188L		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	188				ALAY -> DLQS (in Ref. 1; BAC04313). {ECO:0000305}.	acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		CACGTTGGCTCTAGCTTATTA	0.493																																						ENST00000326303.4																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(562-564)Cta>Tta		acyl-CoA thioesterase 4							135.0	119.0	125.0					14																	74060510		2203	4291	6494	SO:0001819	synonymous_variant	122970				acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity	g.chr14:74060510C>T	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"""Acyl CoA thioesterases"""	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.562C>T	14.37:g.74060510C>T							p.L188L	NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	2	816	+			188	ALAY -> DLQS (in Ref. 1; BAC04313).				Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Silent	SNP	ENST00000326303.4	37	c.562C>T	CCDS9817.1																																																																																				0.493	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331		49	16	0	0	0	0.00361006	0	49	16				
ELTD1	64123	broad.mit.edu	37	1	79403499	79403499	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:79403499C>A	ENST00000370742.3	-	6	816	c.753G>T	c.(751-753)acG>acT	p.T251T		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	251					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TACCTATATCCGTTGAATTTG	0.383																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(751-753)acG>acT		EGF, latrophilin and seven transmembrane domain containing 1							148.0	136.0	140.0					1																	79403499		1821	4081	5902	SO:0001819	synonymous_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79403499C>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.753G>T	1.37:g.79403499C>A							p.T251T	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	6	816	-			251					B1AR71|Q5KU34	Silent	SNP	ENST00000370742.3	37	c.753G>T	CCDS41352.1																																																																																				0.383	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		34	75	1	0	2.20474e-14	0.00375469	7.17737e-14	34	75				
OR14C36	127066	broad.mit.edu	37	1	248512790	248512790	+	Silent	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:248512790C>G	ENST00000317861.1	+	1	714	c.714C>G	c.(712-714)acC>acG	p.T238T		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CCTTTTCCACCTGCATCCCTC	0.522																																						ENST00000317861.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						c.(712-714)acC>acG		olfactory receptor, family 14, subfamily C, member 36							214.0	145.0	168.0					1																	248512790		2203	4300	6503	SO:0001819	synonymous_variant	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512790C>G	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.714C>G	1.37:g.248512790C>G							p.T238T	NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN			1	714	+			238					Q6IEZ6	Silent	SNP	ENST00000317861.1	37	c.714C>G	CCDS31112.1																																																																																				0.522	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		34	48	0	0	0	0.00375469	0	34	48				
CUBN	8029	broad.mit.edu	37	10	17165686	17165686	+	Silent	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:17165686A>T	ENST00000377833.4	-	5	455	c.390T>A	c.(388-390)acT>acA	p.T130T	CUBN_ENST00000377823.1_Silent_p.T130T	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	130					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTTGTCAACAGTCTGAAACA	0.443																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(388-390)acT>acA		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						66.0	53.0	57.0					10																	17165686		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17165686A>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.390T>A	10.37:g.17165686A>T						CUBN_ENST00000377823.1_Silent_p.T130T	p.T130T	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			5	455	-			130					B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.390T>A	CCDS7113.1																																																																																				0.443	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		6	5	0	0	0	0.00307968	0	6	5				
SLITRK2	84631	broad.mit.edu	37	X	144906246	144906246	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:144906246G>T	ENST00000370490.1	+	1	6558	c.2303G>T	c.(2302-2304)aGc>aTc	p.S768I	SLITRK2_ENST00000428560.2_Missense_Mutation_p.S768I|SLITRK2_ENST00000447897.2_Missense_Mutation_p.S768I|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S768I|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S768I|TMEM257_ENST00000408967.2_5'Flank			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	768					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GAACTTCCCAGCGCAGGCCTA	0.463																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(2302-2304)aGc>aTc		SLIT and NTRK-like family, member 2							153.0	138.0	143.0					X																	144906246		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144906246G>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2303G>T	X.37:g.144906246G>T	ENSP00000359521:p.Ser768Ile					SLITRK2_ENST00000428560.2_Missense_Mutation_p.S768I|SLITRK2_ENST00000447897.2_Missense_Mutation_p.S768I|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S768I|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S768I	p.S768I			Q9H156	SLIK2_HUMAN			1	6558	+	Acute lymphoblastic leukemia(192;6.56e-05)		768					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.2303G>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576005	0.28092	.	.	ENSG00000185985	ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	5.52	5.52	0.82312	.	0.306061	0.35870	N	0.002928	T	0.41627	0.1167	L	0.36672	1.1	0.36701	D	0.8801	B	0.26935	0.164	B	0.26517	0.07	T	0.49409	-0.8943	10	0.59425	D	0.04	-4.2221	15.765	0.78120	0.0:0.0:1.0:0.0	.	768	Q9H156	SLIK2_HUMAN	I	768	ENSP00000411681:S768I;ENSP00000359521:S768I;ENSP00000397015:S768I;ENSP00000407347:S768I;ENSP00000412010:S768I	ENSP00000359521:S768I	S	+	2	0	SLITRK2	144713938	0.999000	0.42202	0.844000	0.33320	0.614000	0.37383	3.714000	0.54889	2.320000	0.78422	0.600000	0.82982	AGC		0.463	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		77	132	1	0	3.4779e-39	0.00361006	1.34404e-38	77	132				
UGT2A1	10941	broad.mit.edu	37	4	70513215	70513215	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:70513215C>T	ENST00000503640.1	-	1	203	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	UGT2A1_ENST00000514019.1_Missense_Mutation_p.V50M|UGT2A1_ENST00000286604.4_Missense_Mutation_p.V50M|UGT2A1_ENST00000512704.1_Missense_Mutation_p.V50M	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	50					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGGACAGTCACATTATGCTCC	0.393																																						ENST00000503640.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(148-150)Gtg>Atg		UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus							98.0	93.0	95.0					4																	70513215		2203	4299	6502	SO:0001583	missense	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70513215C>T	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.148G>A	4.37:g.70513215C>T	ENSP00000424478:p.Val50Met					UGT2A1_ENST00000514019.1_Missense_Mutation_p.V50M|UGT2A1_ENST00000512704.1_Missense_Mutation_p.V50M|UGT2A1_ENST00000286604.4_Missense_Mutation_p.V50M	p.V50M	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN			1	203	-			50					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.148G>A	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475012	0.63737	.	.	ENSG00000173610	ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604;ENST00000505512	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-0.15;-1.07	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	D	0.89185	0.6643	M	0.82716	2.605	.	.	.	D;D;P;P	0.89917	1.0;1.0;0.918;0.835	D;D;B;B	0.97110	0.993;1.0;0.435;0.394	D	0.89384	0.3684	9	0.59425	D	0.04	.	17.8477	0.88736	0.0:1.0:0.0:0.0	.	50;50;50;50	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1	.;.;.;UD2A1_HUMAN	M	50	ENSP00000424478:V50M;ENSP00000421432:V50M;ENSP00000425497:V50M;ENSP00000286604:V50M;ENSP00000427709:V50M	ENSP00000286604:V50M	V	-	1	0	UGT2A1	70547804	0.998000	0.40836	1.000000	0.80357	0.281000	0.26958	3.914000	0.56401	2.826000	0.97356	0.655000	0.94253	GTG		0.393	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		17	24	0	0	0	0.000566183	0	17	24				
DCDC1	341019	broad.mit.edu	37	11	31086589	31086589	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:31086589G>T	ENST00000597505.1	-	17	2409	c.2410C>A	c.(2410-2412)Cat>Aat	p.H804N	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTTCTGCCATGTTCCTGATGA	0.423																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(2410-2412)Cat>Aat		doublecortin domain containing 1							102.0	93.0	96.0					11																	31086589		1925	4135	6060	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:31086589G>T	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2410C>A	11.37:g.31086589G>T	ENSP00000472625:p.His804Asn					DCDC1_ENST00000437348.1_5'UTR	p.H804N			P59894	DCDC1_HUMAN			17	2409	-	Lung SC(675;0.225)		0					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.2410C>A																																																																																					0.423	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		17	29	1	0	4.35082e-09	0.00152264	1.30634e-08	17	29				
TP53	7157	broad.mit.edu	37	17	7574017	7574017	+	Missense_Mutation	SNP	C	C	A	rs121912664		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:7574017C>A	ENST00000269305.4	-	10	1199	c.1010G>T	c.(1009-1011)cGc>cTc	p.R337L	TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337L|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R337L(15)|p.0?(8)|p.R337H(4)|p.I332fs*5(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CATCTCGAAGCGCTCACGCCC	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000269305.4		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		29	Substitution - Missense(19)|Whole gene deletion(8)|Unknown(1)|Deletion - Frameshift(1)	p.R337L(15)|p.0?(8)|p.R337H(4)|p.I332fs*5(1)|p.?(1)	lung(8)|liver(8)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|breast(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM012663	TP53	M	rs121912664	c.(1009-1011)cGc>cTc	Other conserved DNA damage response genes	tumor protein p53							57.0	45.0	49.0					17																	7574017		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574017C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1010G>T	17.37:g.7574017C>A	ENSP00000269305:p.Arg337Leu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337L|TP53_ENST00000420246.2_3'UTR	p.R337L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1199	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	337		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.1010G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539589	0.45176	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95137	-3.62;-3.62	5.43	3.45	0.39498	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.96558	0.8877	M	0.82323	2.585	0.42190	D	0.991726	D	0.65815	0.995	D	0.66716	0.946	D	0.95854	0.8877	10	0.66056	D	0.02	-7.3279	9.8868	0.41266	0.0:0.8331:0.0:0.1669	.	337	P04637	P53_HUMAN	L	337;337;326	ENSP00000269305:R337L;ENSP00000391478:R337L	ENSP00000269305:R337L	R	-	2	0	TP53	7514742	0.593000	0.26840	0.008000	0.14137	0.280000	0.26924	0.875000	0.28079	0.671000	0.31185	0.561000	0.74099	CGC		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		20	11	1	0	1.9806e-07	0.00229938	5.64942e-07	20	11				
PRAMEF2	65122	broad.mit.edu	37	1	12919600	12919600	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:12919600G>C	ENST00000240189.2	+	3	427	c.340G>C	c.(340-342)Gcc>Ccc	p.A114P		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	114					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAATTTCTGGGCCAGATGGCC	0.557																																						ENST00000240189.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(340-342)Gcc>Ccc		PRAME family member 2							107.0	129.0	121.0					1																	12919600		2201	4294	6495	SO:0001583	missense	65122							g.chr1:12919600G>C		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.340G>C	1.37:g.12919600G>C	ENSP00000240189:p.Ala114Pro						p.A114P	NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	427	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	114						Missense_Mutation	SNP	ENST00000240189.2	37	c.340G>C	CCDS149.1	.	.	.	.	.	.	.	.	.	.	G	4.712	0.132333	0.08981	.	.	ENSG00000120952	ENST00000240189	T	0.05258	3.47	0.842	-1.68	0.08212	.	1.856790	0.02177	N	0.060206	T	0.03695	0.0105	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.18871	0.023	T	0.38802	-0.9644	10	0.32370	T	0.25	.	4.1361	0.10170	0.5271:0.0:0.4729:0.0	.	114	O60811	PRAM2_HUMAN	P	114	ENSP00000240189:A114P	ENSP00000240189:A114P	A	+	1	0	PRAMEF2	12842187	0.037000	0.19845	0.005000	0.12908	0.016000	0.09150	-0.282000	0.08445	-0.705000	0.05035	-1.038000	0.02383	GCC		0.557	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		149	238	0	0	0	0.00361006	0	149	238				
SLC16A7	9194	broad.mit.edu	37	12	60168919	60168919	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:60168919G>T	ENST00000261187.4	+	4	1007	c.843G>T	c.(841-843)tcG>tcT	p.S281S	SLC16A7_ENST00000547379.1_Silent_p.S281S|SLC16A7_ENST00000552432.1_Silent_p.S281S|SLC16A7_ENST00000552024.1_Silent_p.S281S|SLC16A7_ENST00000543448.1_Silent_p.S182S	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	281					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	ATGAGTACTCGGCAGCTTTTC	0.383																																						ENST00000261187.4																			0				endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30						c.(841-843)tcG>tcT		solute carrier family 16 (monocarboxylate transporter), member 7	Pyruvic acid(DB00119)						95.0	95.0	95.0					12																	60168919		2203	4300	6503	SO:0001819	synonymous_variant	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60168919G>T	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.843G>T	12.37:g.60168919G>T						SLC16A7_ENST00000552432.1_Silent_p.S281S|SLC16A7_ENST00000547379.1_Silent_p.S281S|SLC16A7_ENST00000543448.1_Silent_p.S182S|SLC16A7_ENST00000552024.1_Silent_p.S281S	p.S281S	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	4	1007	+			281					Q8NEM3|Q9UPB3	Silent	SNP	ENST00000261187.4	37	c.843G>T	CCDS8961.1																																																																																				0.383	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		78	16	1	0	9.63364e-24	0.00361006	3.45542e-23	78	16				
MS4A14	84689	broad.mit.edu	37	11	60183525	60183525	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:60183525T>A	ENST00000300187.6	+	5	1361	c.1084T>A	c.(1084-1086)Tcc>Acc	p.S362T	MS4A14_ENST00000531783.1_Missense_Mutation_p.S395T|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.S345T|MS4A14_ENST00000531787.1_Missense_Mutation_p.S250T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	362						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AGGcatactatcccaagacac	0.448																																						ENST00000300187.6																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(1084-1086)Tcc>Acc		membrane-spanning 4-domains, subfamily A, member 14							137.0	105.0	116.0					11																	60183525		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183525T>A	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1084T>A	11.37:g.60183525T>A	ENSP00000300187:p.Ser362Thr					MS4A14_ENST00000531783.1_Missense_Mutation_p.S395T|MS4A14_ENST00000395005.2_Missense_Mutation_p.S345T|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531787.1_Missense_Mutation_p.S250T	p.S362T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN			5	1361	+			362					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.1084T>A	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	T	7.516	0.655666	0.14580	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.37752	1.18;2.39;1.21;2.8	3.22	-0.51	0.11973	.	4.057700	0.00654	N	0.000564	T	0.25457	0.0619	L	0.29908	0.895	0.09310	N	1	P;B	0.36392	0.551;0.416	B;B	0.35688	0.208;0.103	T	0.09015	-1.0694	10	0.38643	T	0.18	-0.2072	2.3072	0.04177	0.2165:0.2529:0.0:0.5306	.	345;362	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	T	250;362;345;395	ENSP00000437222:S250T;ENSP00000300187:S362T;ENSP00000378453:S345T;ENSP00000433761:S395T	ENSP00000300187:S362T	S	+	1	0	MS4A14	59940101	0.000000	0.05858	0.006000	0.13384	0.024000	0.10985	0.061000	0.14366	-0.112000	0.11979	-0.379000	0.06801	TCC		0.448	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			14	14	0	0	0	0.00244969	0	14	14				
MYO7A	4647	broad.mit.edu	37	11	76870542	76870542	+	Silent	SNP	G	G	C	rs187679481	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:76870542G>C	ENST00000409709.3	+	10	1325	c.1053G>C	c.(1051-1053)tcG>tcC	p.S351S	MYO7A_ENST00000458637.2_Silent_p.S351S|MYO7A_ENST00000409893.1_Silent_p.S351S|MYO7A_ENST00000409619.2_Silent_p.S340S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	351	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCTCCCCATCGCTGGCCACAG	0.587																																						ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1051-1053)tcG>tcC		myosin VIIA							90.0	91.0	91.0					11																	76870542		2014	4200	6214	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76870542G>C	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1053G>C	11.37:g.76870542G>C						MYO7A_ENST00000458637.2_Silent_p.S351S|MYO7A_ENST00000409893.1_Silent_p.S351S|MYO7A_ENST00000409619.2_Silent_p.S340S	p.S351S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			10	1325	+			351			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.1053G>C	CCDS53683.1																																																																																				0.587	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		33	42	0	0	0	0.000953801	0	33	42				
UNC13A	23025	broad.mit.edu	37	19	17766748	17766748	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:17766748G>T	ENST00000519716.2	-	10	1226	c.1227C>A	c.(1225-1227)gaC>gaA	p.D409E	UNC13A_ENST00000552293.1_Missense_Mutation_p.D409E|UNC13A_ENST00000550896.1_Missense_Mutation_p.D409E|UNC13A_ENST00000252773.7_Missense_Mutation_p.D409E|UNC13A_ENST00000428389.2_Missense_Mutation_p.D497E|UNC13A_ENST00000551649.1_Missense_Mutation_p.D409E	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	409					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CAGGCACCTTGTCGGGCGTGG	0.697																																						ENST00000428389.2																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(1489-1491)gaC>gaA		unc-13 homolog A (C. elegans)							24.0	28.0	26.0					19																	17766748		2027	4171	6198	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17766748G>T	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1227C>A	19.37:g.17766748G>T	ENSP00000429562:p.Asp409Glu					UNC13A_ENST00000252773.7_Missense_Mutation_p.D409E|UNC13A_ENST00000551649.1_Missense_Mutation_p.D409E|UNC13A_ENST00000552293.1_Missense_Mutation_p.D409E|UNC13A_ENST00000550896.1_Missense_Mutation_p.D409E|UNC13A_ENST00000519716.2_Missense_Mutation_p.D409E	p.D497E			Q9UPW8	UN13A_HUMAN			11	1490	-			409					E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.1491C>A	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	0.277	-0.988839	0.02162	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.79141	-1.22;-1.24;-1.22;-1.09;-1.09;-1.22	4.25	2.1	0.27182	.	1.724550	0.03627	N	0.237352	T	0.51500	0.1678	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52079	-0.8623	10	0.02654	T	1	-7.495	4.4603	0.11663	0.0:0.6002:0.1905:0.2093	.	409	Q9UPW8	UN13A_HUMAN	E	409;497;409;409;409;409	ENSP00000429562:D409E;ENSP00000400409:D497E;ENSP00000252773:D409E;ENSP00000447236:D409E;ENSP00000447572:D409E;ENSP00000446831:D409E	ENSP00000252773:D409E	D	-	3	2	UNC13A	17627748	0.001000	0.12720	0.089000	0.20774	0.141000	0.21300	-0.971000	0.03806	0.271000	0.22005	-0.347000	0.07816	GAC		0.697	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		5	16	1	0	1.23904e-05	0.000602214	3.37357e-05	5	16				
SLC6A11	6538	broad.mit.edu	37	3	10858101	10858101	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:10858101G>C	ENST00000254488.2	+	1	217	c.151G>C	c.(151-153)Ggc>Cgc	p.G51R	SLC6A11_ENST00000454147.1_Missense_Mutation_p.G51R	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	51					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	CCACGAGCGCGGCCACTGGAA	0.721																																						ENST00000254488.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(151-153)Ggc>Cgc		solute carrier family 6 (neurotransmitter transporter), member 11							39.0	24.0	29.0					3																	10858101		2203	4299	6502	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10858101G>C	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.151G>C	3.37:g.10858101G>C	ENSP00000254488:p.Gly51Arg					SLC6A11_ENST00000454147.1_Missense_Mutation_p.G51R	p.G51R	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	1	217	+			51					B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.151G>C	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837521	0.91117	.	.	ENSG00000132164	ENST00000254488;ENST00000454147	T;T	0.76709	-1.04;-1.04	3.48	3.48	0.39840	.	0.133263	0.50627	D	0.000110	D	0.90431	0.7004	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93099	0.6507	10	0.66056	D	0.02	.	15.1481	0.72674	0.0:0.0:1.0:0.0	.	51	P48066	S6A11_HUMAN	R	51	ENSP00000254488:G51R;ENSP00000404120:G51R	ENSP00000254488:G51R	G	+	1	0	SLC6A11	10833101	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.156000	0.94705	1.774000	0.52232	0.313000	0.20887	GGC		0.721	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		3	4	0	0	0	6.4e-05	0	3	4				
SIPA1L1	26037	broad.mit.edu	37	14	72054795	72054795	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:72054795C>T	ENST00000555818.1	+	2	554	c.206C>T	c.(205-207)cCc>cTc	p.P69L	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P69L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P69L	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	69					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACCTCAACCCCCGGAGTCCCA	0.507																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(205-207)cCc>cTc		signal-induced proliferation-associated 1 like 1							71.0	78.0	76.0					14																	72054795		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72054795C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.206C>T	14.37:g.72054795C>T	ENSP00000450832:p.Pro69Leu					SIPA1L1_ENST00000381232.3_Missense_Mutation_p.P69L|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.P69L	p.P69L	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	554	+			69					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.206C>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.412467	0.42817	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	D;D;D	0.81739	-1.53;-1.5;-1.52	5.48	5.48	0.80851	.	0.055518	0.64402	D	0.000001	D	0.88695	0.6506	L	0.57536	1.79	0.80722	D	1	B;D;B	0.89917	0.279;1.0;0.279	B;D;B	0.91635	0.081;0.999;0.081	D	0.89071	0.3469	10	0.87932	D	0	-20.9216	19.7112	0.96096	0.0:1.0:0.0:0.0	.	69;69;69	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	L	69	ENSP00000370630:P69L;ENSP00000450832:P69L;ENSP00000351352:P69L	ENSP00000351352:P69L	P	+	2	0	SIPA1L1	71124548	1.000000	0.71417	0.902000	0.35471	0.280000	0.26924	6.044000	0.71012	2.722000	0.93159	0.655000	0.94253	CCC		0.507	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		48	20	0	0	0	0.00361006	0	48	20				
INTS7	25896	broad.mit.edu	37	1	212180752	212180752	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:212180752G>A	ENST00000366994.3	-	6	700	c.596C>T	c.(595-597)cCc>cTc	p.P199L	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.P199L|INTS7_ENST00000440600.2_Missense_Mutation_p.P150L|INTS7_ENST00000366993.3_Missense_Mutation_p.P199L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	199					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CTGTAGAATGGGTATCAATTT	0.403																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(595-597)cCc>cTc		integrator complex subunit 7							143.0	123.0	129.0					1																	212180752		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212180752G>A	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.596C>T	1.37:g.212180752G>A	ENSP00000355961:p.Pro199Leu					INTS7_ENST00000366992.3_Missense_Mutation_p.P199L|INTS7_ENST00000366993.3_Missense_Mutation_p.P199L|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Missense_Mutation_p.P150L	p.P199L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	6	700	-			199					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.596C>T	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895966	0.91962	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	6.04	6.04	0.98038	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50871	0.1641	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.43065	-0.9414	10	0.59425	D	0.04	-29.7486	20.5792	0.99380	0.0:0.0:1.0:0.0	.	150;199;199;199	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	L	199;199;199;150	ENSP00000355961:P199L;ENSP00000355960:P199L;ENSP00000355959:P199L;ENSP00000388908:P150L	ENSP00000355959:P199L	P	-	2	0	INTS7	210247375	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	9.136000	0.94489	2.873000	0.98535	0.561000	0.74099	CCC		0.403	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		6	26	0	0	0	0.00116845	0	6	26				
KIF1A	547	broad.mit.edu	37	2	241702653	241702653	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:241702653C>A	ENST00000320389.7	-	20	2010	c.1852G>T	c.(1852-1854)Gac>Tac	p.D618Y	KIF1A_ENST00000498729.2_Missense_Mutation_p.D627Y	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	618					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AAGGCCCAGTCCACAGGCTCA	0.652																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(1879-1881)Gac>Tac		kinesin family member 1A							24.0	26.0	26.0					2																	241702653		2147	4254	6401	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241702653C>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1852G>T	2.37:g.241702653C>A	ENSP00000322791:p.Asp618Tyr					KIF1A_ENST00000320389.7_Missense_Mutation_p.D618Y	p.D627Y	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	21	2125	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	618					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.1879G>T	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688841	0.88639	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.79247	-1.25;-1.25;-1.25	3.93	3.93	0.45458	.	0.000000	0.85682	U	0.000000	D	0.89979	0.6872	M	0.90977	3.165	0.80722	D	1	D;D;D	0.89917	0.997;0.977;1.0	D;P;D	0.72075	0.976;0.839;0.968	D	0.92851	0.6297	10	0.87932	D	0	.	16.3222	0.82954	0.0:1.0:0.0:0.0	.	627;627;618	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	Y	618;627;627;627	ENSP00000322791:D618Y;ENSP00000438388:D627Y;ENSP00000384231:D627Y	ENSP00000322791:D618Y	D	-	1	0	KIF1A	241351326	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.486000	0.81215	1.915000	0.55452	0.467000	0.42956	GAC		0.652	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		9	18	1	0	5.4927e-09	0.000274275	1.62476e-08	9	18				
IFT57	55081	broad.mit.edu	37	3	107938307	107938307	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:107938307C>A	ENST00000264538.3	-	2	572	c.325G>T	c.(325-327)Gat>Tat	p.D109Y		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	109					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TTAGGGTCATCATATTCTTGA	0.408																																						ENST00000264538.3																			0				kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(325-327)Gat>Tat		intraflagellar transport 57 homolog (Chlamydomonas)							141.0	131.0	135.0					3																	107938307		2203	4300	6503	SO:0001583	missense	55081				activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	g.chr3:107938307C>A	AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"""Intraflagellar transport homologs"""	17367	protein-coding gene	gene with protein product		606621	"""estrogen-related receptor beta like 1"", ""intraflagellar transport 57 homolog (Chlamydomonas)"""	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.325G>T	3.37:g.107938307C>A	ENSP00000264538:p.Asp109Tyr						p.D109Y	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)		2	572	-			109					Q96DA9	Missense_Mutation	SNP	ENST00000264538.3	37	c.325G>T	CCDS2951.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.978425	0.92982	.	.	ENSG00000114446	ENST00000264538;ENST00000492106	.	.	.	5.68	5.68	0.88126	.	0.043348	0.85682	D	0.000000	D	0.86573	0.5965	M	0.91510	3.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88507	0.3086	9	0.87932	D	0	.	20.1595	0.98130	0.0:1.0:0.0:0.0	.	109	Q9NWB7	IFT57_HUMAN	Y	109;140	.	ENSP00000264538:D109Y	D	-	1	0	IFT57	109420997	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.624000	0.83124	2.847000	0.97988	0.591000	0.81541	GAT		0.408	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	NM_018010		19	11	1	0	6.94344e-10	0.00074312	2.12743e-09	19	11				
UNC13C	440279	broad.mit.edu	37	15	54586184	54586184	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:54586184G>T	ENST00000260323.11	+	10	3910	c.3910G>T	c.(3910-3912)Gag>Tag	p.E1304*	UNC13C_ENST00000545554.1_Nonsense_Mutation_p.E1304*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E1302*	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1304	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTCAAAAAGGAGTCAGATGA	0.358																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(3910-3912)Gag>Tag		unc-13 homolog C (C. elegans)							207.0	211.0	210.0					15																	54586184		1900	4132	6032	SO:0001587	stop_gained	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54586184G>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.3910G>T	15.37:g.54586184G>T	ENSP00000260323:p.Glu1304*					UNC13C_ENST00000260323.11_Nonsense_Mutation_p.E1304*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.E1302*	p.E1304*			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	10	3910	+			1304			C2 1.		Q0P613|Q8ND48|Q96NP3	Nonsense_Mutation	SNP	ENST00000260323.11	37	c.3910G>T	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	45	11.398704	0.99556	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.91	5.91	0.95273	.	0.050750	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.2934	0.94112	0.0:0.0:1.0:0.0	.	.	.	.	X	1304;1304;1302	.	ENSP00000260323:E1304X	E	+	1	0	UNC13C	52373476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.814000	0.96858	0.650000	0.86243	GAG		0.358	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		61	83	1	0	4.09106e-26	0.00361006	1.49424e-25	61	83				
C10orf35	219738	broad.mit.edu	37	10	71392595	71392595	+	Missense_Mutation	SNP	G	G	T	rs201072929		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:71392595G>T	ENST00000373279.4	+	4	305	c.146G>T	c.(145-147)cGc>cTc	p.R49L	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	49						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CCTGGCCCCCGCCAGCAGCAG	0.602																																						ENST00000373279.4																			0				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						c.(145-147)cGc>cTc		chromosome 10 open reading frame 35							34.0	34.0	34.0					10																	71392595		2203	4300	6503	SO:0001583	missense	219738					integral to membrane		g.chr10:71392595G>T	BC013587	CCDS7295.1	10q22.2	2003-11-21			ENSG00000171224	ENSG00000171224			23519	protein-coding gene	gene with protein product						12477932	Standard	NM_145306		Approved		uc001jpq.4	Q96D05	OTTHUMG00000018383	ENST00000373279.4:c.146G>T	10.37:g.71392595G>T	ENSP00000362376:p.Arg49Leu					C10orf35_ENST00000491890.1_3'UTR	p.R49L	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN			4	305	+			49						Missense_Mutation	SNP	ENST00000373279.4	37	c.146G>T	CCDS7295.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.908668	0.33721	.	.	ENSG00000171224	ENST00000373279;ENST00000421716	.	.	.	4.81	2.76	0.32466	.	0.687800	0.13904	N	0.354705	T	0.27349	0.0671	L	0.29908	0.895	0.28509	N	0.913616	B	0.26195	0.144	B	0.19666	0.026	T	0.16482	-1.0401	9	0.51188	T	0.08	-25.2934	5.5646	0.17163	0.3168:0.0:0.6832:0.0	.	49	Q96D05	CJ035_HUMAN	L	49;91	.	ENSP00000362376:R49L	R	+	2	0	C10orf35	71062601	0.869000	0.29996	0.988000	0.46212	0.350000	0.29205	0.479000	0.22228	1.226000	0.43582	0.561000	0.74099	CGC		0.602	C10orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048454.1	NM_145306		17	19	1	0	1.99824e-07	0.000566183	5.68619e-07	17	19				
LRP2	4036	broad.mit.edu	37	2	170058313	170058313	+	Silent	SNP	G	G	T	rs546544412		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:170058313G>T	ENST00000263816.3	-	44	8562	c.8277C>A	c.(8275-8277)cgC>cgA	p.R2759R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2759	LDL-receptor class A 17. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGTAATCACAGCGGTAAGAGT	0.498																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(8275-8277)cgC>cgA		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						155.0	131.0	139.0					2																	170058313		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170058313G>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8277C>A	2.37:g.170058313G>T							p.R2759R	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	44	8562	-			2759			LDL-receptor class A 17.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.8277C>A	CCDS2232.1																																																																																				0.498	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		17	39	1	0	3.45872e-05	0.00400662	9.29046e-05	17	39				
MYH1	4619	broad.mit.edu	37	17	10395801	10395801	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:10395801C>T	ENST00000226207.5	-	40	5846	c.5752G>A	c.(5752-5754)Gag>Aag	p.E1918K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1918					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ACCTGGGACTCAGCAATGTCA	0.488																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(5752-5754)Gag>Aag		myosin, heavy chain 1, skeletal muscle, adult							190.0	173.0	179.0					17																	10395801		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10395801C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5752G>A	17.37:g.10395801C>T	ENSP00000226207:p.Glu1918Lys					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.E1918K	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			40	5846	-			1918					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.5752G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	35	5.533070	0.96460	.	.	ENSG00000109061	ENST00000226207	D	0.84516	-1.86	4.63	4.63	0.57726	Myosin tail (1);	0.000000	0.40385	U	0.001117	D	0.94945	0.8365	H	0.96208	3.785	0.58432	D	0.999999	D	0.76494	0.999	D	0.76071	0.987	D	0.96517	0.9383	10	0.87932	D	0	.	18.0186	0.89249	0.0:1.0:0.0:0.0	.	1918	P12882	MYH1_HUMAN	K	1918	ENSP00000226207:E1918K	ENSP00000226207:E1918K	E	-	1	0	MYH1	10336526	1.000000	0.71417	0.980000	0.43619	0.989000	0.77384	7.568000	0.82369	2.546000	0.85860	0.655000	0.94253	GAG		0.488	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		62	31	0	0	0	0.00361006	0	62	31				
OR4K5	79317	broad.mit.edu	37	14	20389063	20389063	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:20389063C>T	ENST00000315915.4	+	1	323	c.298C>T	c.(298-300)Caa>Taa	p.Q100*		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	100						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGCATAGCCCAAATTTTCTT	0.413																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(298-300)Caa>Taa		olfactory receptor, family 4, subfamily K, member 5							226.0	242.0	237.0					14																	20389063		2203	4300	6503	SO:0001587	stop_gained	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389063C>T	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.298C>T	14.37:g.20389063C>T	ENSP00000319511:p.Gln100*						p.Q100*	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	323	+	all_cancers(95;0.00108)		100					Q6IFA7	Nonsense_Mutation	SNP	ENST00000315915.4	37	c.298C>T	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	35	5.478771	0.96291	.	.	ENSG00000176281	ENST00000315915	.	.	.	4.41	4.41	0.53225	.	0.000000	0.48286	D	0.000198	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.5138	0.67807	0.0:1.0:0.0:0.0	.	.	.	.	X	100	.	ENSP00000319511:Q100X	Q	+	1	0	OR4K5	19458903	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	5.235000	0.65348	2.269000	0.75478	0.655000	0.94253	CAA		0.413	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		76	44	0	0	0	0.00361006	0	76	44				
IGHD	3495	broad.mit.edu	37	14	106307375	106307375	+	RNA	SNP	G	G	A	rs368781996		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:106307375G>A	ENST00000390556.2	-	0	662							P01880	IGHD_HUMAN	immunoglobulin heavy constant delta						immune response (GO:0006955)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										TTGCTGTGCCGCTCCAGCAGC	0.667																																						ENST00000390556.2																			0															G		1,4233		0,1,2116	20.0	23.0	22.0			-3.7	0.0	14		22	1,8409		0,1,4204	no	intergenic				0,2,6320	AA,AG,GG		0.0119,0.0236,0.0158			106307375	2,12642	2117	4205	6322			3495							g.chr14:106307375G>A	K02875		14q32.33	2012-03-09			ENSG00000211898	ENSG00000211898		"""Immunoglobulins / IGH locus"""	5480	other	immunoglobulin gene	"""immunoglobulin delta"", ""constant region of heavy chain of IgD"""	147170				3922054	Standard	NG_001019		Approved	FLJ00382, FLJ46727, MGC29633	uc001ysj.3	P01880	OTTHUMG00000152538		14.37:g.106307375G>A														0	662	-								Q6P4I8|Q8WU38	RNA	SNP	ENST00000390556.2	37																																																																																						0.667	IGHD-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326652.1	NG_001019		3	2	0	0	0	6.4e-05	0	3	2				
KIAA1377	57562	broad.mit.edu	37	11	101832914	101832914	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:101832914G>T	ENST00000263468.8	+	6	1418	c.1148G>T	c.(1147-1149)tGt>tTt	p.C383F	KIAA1377_ENST00000537689.1_Missense_Mutation_p.C184F	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	383								p.C383S(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GATAAAAAATGTGAAAAGACC	0.398																																						ENST00000263468.8																			1	Substitution - Missense(1)	p.C383S(1)	lung(1)	breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(1147-1149)tGt>tTt		KIAA1377							49.0	53.0	51.0					11																	101832914		2200	4299	6499	SO:0001583	missense	57562						protein binding	g.chr11:101832914G>T	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1148G>T	11.37:g.101832914G>T	ENSP00000263468:p.Cys383Phe					KIAA1377_ENST00000537689.1_Missense_Mutation_p.C184F	p.C383F	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	1418	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	383					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.1148G>T	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	8.034	0.762407	0.15914	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.06294	3.32;3.32	4.94	-6.01	0.02199	.	1.456820	0.03737	N	0.254360	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.12156	0.007	T	0.46005	-0.9222	10	0.54805	T	0.06	1.3193	7.2299	0.26036	0.5037:0.3493:0.147:0.0	.	383	Q9P2H0	K1377_HUMAN	F	383;184	ENSP00000263468:C383F;ENSP00000443184:C184F	ENSP00000263468:C383F	C	+	2	0	KIAA1377	101338124	0.000000	0.05858	0.000000	0.03702	0.847000	0.48162	0.271000	0.18626	-0.773000	0.04596	0.655000	0.94253	TGT		0.398	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		15	29	1	0	0.000308642	0.00316338	0.000809088	15	29				
SNHG14	104472715	broad.mit.edu	37	15	25322231	25322231	+	RNA	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:25322231G>T	ENST00000549804.2	+	0	1243				SNORD116-13_ENST00000384408.1_RNA|SNORD116-11_ENST00000383882.1_RNA|SNORD116-12_ENST00000384468.1_RNA|SNORD116-10_ENST00000363791.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		TACATTCCTTGGAAAGCTGAA	0.438																																						ENST00000549804.2																			0																				145.0	132.0	136.0					15																	25322231		876	1991	2867			104472715							g.chr15:25322231G>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25322231G>T						SNORD116-12_ENST00000384468.1_RNA								0	1243	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.438	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			18	33	1	0	1.56452e-12	0.000958276	5.0115e-12	18	33				
SSFA2	6744	broad.mit.edu	37	2	182783380	182783380	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:182783380C>G	ENST00000431877.2	+	12	3022	c.2843C>G	c.(2842-2844)tCa>tGa	p.S948*	SSFA2_ENST00000320370.7_Nonsense_Mutation_p.S948*|SSFA2_ENST00000409001.1_Nonsense_Mutation_p.S948*|SSFA2_ENST00000428267.2_Nonsense_Mutation_p.S795*|SSFA2_ENST00000409136.1_Nonsense_Mutation_p.S457*	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	948						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACTCAGAAATCATCTGTTCTA	0.313																																						ENST00000431877.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(2842-2844)tCa>tGa		sperm specific antigen 2							148.0	142.0	144.0					2																	182783380		2203	4300	6503	SO:0001587	stop_gained	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182783380C>G	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2843C>G	2.37:g.182783380C>G	ENSP00000388731:p.Ser948*					SSFA2_ENST00000409136.1_Nonsense_Mutation_p.S457*|SSFA2_ENST00000428267.2_Nonsense_Mutation_p.S795*|SSFA2_ENST00000320370.7_Nonsense_Mutation_p.S948*|SSFA2_ENST00000409001.1_Nonsense_Mutation_p.S948*	p.S948*	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		12	3022	+			948					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Nonsense_Mutation	SNP	ENST00000431877.2	37	c.2843C>G	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	C	42	9.291132	0.99127	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	.	.	.	6.11	6.11	0.99139	.	0.565414	0.19756	N	0.106797	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.3386	20.7342	0.99715	0.0:1.0:0.0:0.0	.	.	.	.	X	948;948;948;795;457	.	ENSP00000314669:S948X	S	+	2	0	SSFA2	182491625	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.950000	0.49081	2.906000	0.99361	0.655000	0.94253	TCA		0.313	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		30	46	0	0	0	0.0024448	0	30	46				
OR14J1	442191	broad.mit.edu	37	6	29274874	29274874	+	Silent	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:29274874C>G	ENST00000377160.2	+	1	472	c.408C>G	c.(406-408)ccC>ccG	p.P136P		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TTATGGATCCCCGTGCCTGTA	0.502																																						ENST00000377160.2																			0				endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						c.(406-408)ccC>ccG		olfactory receptor, family 14, subfamily J, member 1							132.0	134.0	133.0					6																	29274874		1511	2708	4219	SO:0001819	synonymous_variant	442191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29274874C>G		CCDS34362.1	6p21.3	2012-08-09	2008-04-02	2008-04-02	ENSG00000204695	ENSG00000204695		"""GPCR / Class A : Olfactory receptors"""	13971	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily U, member 1"""	OR5U1			Standard	NM_030946		Approved	hs6M1-28	uc011dln.2	Q9UGF5	OTTHUMG00000031184	ENST00000377160.2:c.408C>G	6.37:g.29274874C>G							p.P136P	NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN			1	472	+			136					A2BEC2|B0V078|Q5ST27	Silent	SNP	ENST00000377160.2	37	c.408C>G	CCDS34362.1																																																																																				0.502	OR14J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076362.2			58	136	0	0	0	0.00361006	0	58	136				
SPEF2	79925	broad.mit.edu	37	5	35727888	35727888	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:35727888C>A	ENST00000356031.3	+	21	3180	c.3026C>A	c.(3025-3027)tCa>tAa	p.S1009*	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Nonsense_Mutation_p.S1004*	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1009					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGCCAGGATCAGAAGAATGG	0.428																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(3010-3012)tCa>tAa		sperm flagellar 2							128.0	129.0	129.0					5																	35727888		1950	4138	6088	SO:0001587	stop_gained	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35727888C>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3026C>A	5.37:g.35727888C>A	ENSP00000348314:p.Ser1009*					CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.S1009*	p.S1004*			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		21	3011	+	all_lung(31;7.56e-05)		1009					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Nonsense_Mutation	SNP	ENST00000356031.3	37	c.3011C>A	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	39	7.598546	0.98381	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	.	.	.	5.3	2.51	0.30379	.	0.262206	0.31784	N	0.007067	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4983	0.22153	0.0:0.6891:0.1482:0.1628	.	.	.	.	X	1009;1004	.	ENSP00000348314:S1009X	S	+	2	0	SPEF2	35763645	0.944000	0.32072	0.588000	0.28705	0.863000	0.49368	2.067000	0.41461	0.308000	0.22923	-0.142000	0.14014	TCA		0.428	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		93	62	1	0	3.37413e-40	0.00361006	1.3124e-39	93	62				
SLC4A10	57282	broad.mit.edu	37	2	162761344	162761344	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:162761344G>T	ENST00000446997.1	+	14	1769	c.1676G>T	c.(1675-1677)gGt>gTt	p.G559V	SLC4A10_ENST00000415876.2_Missense_Mutation_p.G529V|SLC4A10_ENST00000272716.5_Missense_Mutation_p.G529V|SLC4A10_ENST00000375514.5_Missense_Mutation_p.G540V|SLC4A10_ENST00000421911.1_Missense_Mutation_p.G559V	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	559					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TCTCTCTTTGGTGGACAGCCT	0.393																																						ENST00000375514.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1618-1620)gGt>gTt		solute carrier family 4, sodium bicarbonate transporter, member 10							198.0	188.0	191.0					2																	162761344		1921	4170	6091	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162761344G>T		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1676G>T	2.37:g.162761344G>T	ENSP00000393066:p.Gly559Val					SLC4A10_ENST00000272716.5_Missense_Mutation_p.G529V|SLC4A10_ENST00000421911.1_Missense_Mutation_p.G559V|SLC4A10_ENST00000446997.1_Missense_Mutation_p.G559V|SLC4A10_ENST00000415876.2_Missense_Mutation_p.G529V	p.G540V	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN			14	1906	+			559					B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.1619G>T	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850750	0.71719	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35	5.56	5.56	0.83823	Bicarbonate transporter, C-terminal (1);	0.047557	0.85682	D	0.000000	D	0.86830	0.6027	M	0.75150	2.29	0.80722	D	1	P;P;P	0.47604	0.553;0.553;0.898	B;B;P	0.51516	0.209;0.209;0.672	D	0.88155	0.2853	10	0.87932	D	0	.	19.531	0.95230	0.0:0.0:1.0:0.0	.	540;529;559	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	V	540;529;529;528;559;559;558	ENSP00000364664:G540V;ENSP00000395797:G529V;ENSP00000272716:G529V;ENSP00000393066:G559V;ENSP00000404486:G559V	ENSP00000272716:G529V	G	+	2	0	SLC4A10	162469590	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.928000	0.75846	2.614000	0.88457	0.557000	0.71058	GGT		0.393	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		47	62	1	0	2.55665e-31	0.00361006	9.66203e-31	47	62				
SI	6476	broad.mit.edu	37	3	164741485	164741485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:164741485G>T	ENST00000264382.3	-	26	3034	c.2972C>A	c.(2971-2973)tCa>tAa	p.S991*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	991	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ACCCATGGATGAATAGCGAGC	0.413										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(2971-2973)tCa>tAa		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						128.0	122.0	124.0					3																	164741485		2203	4300	6503	SO:0001587	stop_gained	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164741485G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2972C>A	3.37:g.164741485G>T	ENSP00000264382:p.Ser991*	HNSCC(35;0.089)					p.S991*	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			26	3034	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	991			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Nonsense_Mutation	SNP	ENST00000264382.3	37	c.2972C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	38	7.246845	0.98161	.	.	ENSG00000090402	ENST00000264382	.	.	.	5.23	3.27	0.37495	.	0.475586	0.22067	N	0.065099	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	6.9891	0.24745	0.0998:0.0:0.7266:0.1736	.	.	.	.	X	991	.	ENSP00000264382:S991X	S	-	2	0	SI	166224179	0.005000	0.15991	0.008000	0.14137	0.112000	0.19704	0.884000	0.28214	0.744000	0.32741	0.655000	0.94253	TCA		0.413	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		17	26	1	0	3.45872e-05	0.00400662	9.29046e-05	17	26				
PDE4DIP	9659	broad.mit.edu	37	1	144855862	144855862	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:144855862G>C	ENST00000369354.3	-	41	6880	c.6691C>G	c.(6691-6693)Cat>Gat	p.H2231D	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.H2367D|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.H2316D|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.H2125D|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H2231D|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2231					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGAAGCTCATGAATACCTTTG	0.567			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(7099-7101)Cat>Gat		phosphodiesterase 4D interacting protein							52.0	48.0	50.0					1																	144855862		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144855862G>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6691C>G	1.37:g.144855862G>C	ENSP00000358360:p.His2231Asp					PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.H2231D|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.H2231D|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.H2125D|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.H2316D	p.H2367D			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	44	7137	-			2231					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.7099C>G	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.43|12.43	1.935732|1.935732	0.34189|0.34189	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000530130|ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.|T;T;T;T;T	.|0.01527	.|4.8;4.9;4.9;4.9;4.9	4.57|4.57	3.64|3.64	0.41730|0.41730	.|.	.|.	.|.	.|.	.|.	T|T	0.00906|0.00906	0.0030|0.0030	L|L	0.53249|0.53249	1.67|1.67	0.09310|0.09310	N|N	0.99999|0.99999	.|B;B	.|0.29341	.|0.065;0.242	.|B;B	.|0.21151	.|0.015;0.033	T|T	0.44636|0.44636	-0.9315|-0.9315	5|9	.|0.62326	.|D	.|0.03	.|.	10.1496|10.1496	0.42784|0.42784	0.0:0.0:0.6378:0.3622|0.0:0.0:0.6378:0.3622	.|.	.|2125;2231	.|Q5VU43-3;Q5VU43	.|.;MYOME_HUMAN	L|D	307|2125;2231;2231;2316;2367	.|ENSP00000327209:H2125D;ENSP00000358360:H2231D;ENSP00000358363:H2231D;ENSP00000435654:H2316D;ENSP00000358366:H2367D	.|ENSP00000327209:H2125D	F|H	-|-	3|1	2|0	PDE4DIP|PDE4DIP	143567219|143567219	0.002000|0.002000	0.14202|0.14202	0.003000|0.003000	0.11579|0.11579	0.242000|0.242000	0.25591|0.25591	1.239000|1.239000	0.32719|0.32719	1.022000|1.022000	0.39626|0.39626	0.549000|0.549000	0.68633|0.68633	TTC|CAT		0.567	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		4	52	0	0	0	0.00198382	0	4	52				
TEX13A	56157	broad.mit.edu	37	X	104464080	104464080	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:104464080C>T	ENST00000413579.1	-	5	907	c.796G>A	c.(796-798)Gat>Aat	p.D266N	TEX13A_ENST00000372578.3_Silent_p.E266E|TEX13A_ENST00000372575.1_Silent_p.E266E|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	266							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GACCGGAGATCTCCCTCCTTC	0.552																																						ENST00000413579.1																			0				large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						c.(796-798)Gat>Aat		testis expressed 13A							81.0	82.0	82.0					X																	104464080		2051	4195	6246	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464080C>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.796G>A	X.37:g.104464080C>T	ENSP00000399753:p.Asp266Asn					IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Silent_p.E266E|TEX13A_ENST00000372575.1_Silent_p.E266E|IL1RAPL2_ENST00000344799.4_Intron	p.D266N			Q9BXU3	TX13A_HUMAN			5	907	-			266					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.796G>A		.	.	.	.	.	.	.	.	.	.	C	7.613	0.675202	0.14841	.	.	ENSG00000133149	ENST00000413579	.	.	.	2.94	-1.7	0.08159	.	1.285870	0.05754	N	0.603674	T	0.28532	0.0706	L	0.33485	1.01	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.21075	-1.0256	9	0.15952	T	0.53	.	7.2217	0.25990	0.0:0.3075:0.0:0.6925	.	266	Q9BXU3	TX13A_HUMAN	N	266	.	ENSP00000399753:D266N	D	-	1	0	TEX13A	104350736	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.433000	0.02428	-0.638000	0.05509	-0.305000	0.09177	GAT		0.552	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		27	42	0	0	0	0.000720815	0	27	42				
USH2A	7399	broad.mit.edu	37	1	216040469	216040469	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:216040469C>G	ENST00000307340.3	-	44	9111	c.8725G>C	c.(8725-8727)Ggt>Cgt	p.G2909R	USH2A_ENST00000366943.2_Missense_Mutation_p.G2909R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2909	Fibronectin type-III 15. {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)		GGTGTAAAACCCACACTGTTG	0.398										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.(8725-8727)Ggt>Cgt		Usher syndrome 2A (autosomal recessive, mild)							110.0	96.0	101.0					1																	216040469		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.chr1:216040469C>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.8725G>C	1.37:g.216040469C>G	ENSP00000305941:p.Gly2909Arg	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.G2909R	p.G2909R			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	44	9111	-			2909			Fibronectin type-III 15.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8725G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828759	0.71258	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.64618	-0.11;-0.11	5.72	4.81	0.61882	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44097	D	0.000489	T	0.79587	0.4471	M	0.80183	2.485	0.48511	D	0.999664	D	0.89917	1.0	D	0.97110	1.0	T	0.82317	-0.0517	10	0.62326	D	0.03	.	14.4551	0.67411	0.0:0.9293:0.0:0.0707	.	2909	O75445	USH2A_HUMAN	R	2909	ENSP00000305941:G2909R;ENSP00000355910:G2909R	ENSP00000305941:G2909R	G	-	1	0	USH2A	214107092	1.000000	0.71417	0.981000	0.43875	0.677000	0.39632	4.083000	0.57643	1.422000	0.47177	0.557000	0.71058	GGT		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		20	40	0	0	0	0.00152264	0	20	40				
TMTC3	160418	broad.mit.edu	37	12	88588735	88588735	+	Missense_Mutation	SNP	A	A	T	rs202187635		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:88588735A>T	ENST00000266712.6	+	14	2274	c.2054A>T	c.(2053-2055)aAt>aTt	p.N685I		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	686					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AAAAAGGACAATGAAGCAGAG	0.398																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(2053-2055)aAt>aTt		transmembrane and tetratricopeptide repeat containing 3							111.0	115.0	114.0					12																	88588735		2203	4300	6503	SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88588735A>T		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.2054A>T	12.37:g.88588735A>T	ENSP00000266712:p.Asn685Ile						p.N685I	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			14	2274	+			686					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	c.2054A>T	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.543138	0.27563	.	.	ENSG00000139324	ENST00000266712	T	0.74209	-0.82	5.83	-9.5	0.00584	.	1.385440	0.04349	N	0.355370	T	0.47488	0.1448	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43410	-0.9393	10	0.46703	T	0.11	-3.0E-4	10.5181	0.44903	0.2131:0.2437:0.4934:0.0498	.	685	Q6ZXV5-2	.	I	685	ENSP00000266712:N685I	ENSP00000266712:N685I	N	+	2	0	TMTC3	87112866	0.000000	0.05858	0.002000	0.10522	0.957000	0.61999	-0.441000	0.06879	-1.413000	0.02027	-0.254000	0.11334	AAT		0.398	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		35	13	0	0	0	0.00327116	0	35	13				
ERN2	10595	broad.mit.edu	37	16	23706706	23706706	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:23706706G>C	ENST00000457008.2	-	14	1497	c.1459C>G	c.(1459-1461)Cag>Gag	p.Q487E	ERN2_ENST00000256797.4_Missense_Mutation_p.Q587E					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCCTCAAACTGTCCCCTGGAA	0.597																																						ENST00000256797.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(1759-1761)Cag>Gag		endoplasmic reticulum to nucleus signaling 2							10.0	11.0	11.0					16																	23706706		2185	4275	6460	SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23706706G>C	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.1459C>G	16.37:g.23706706G>C	ENSP00000413812:p.Gln487Glu					ERN2_ENST00000457008.2_Missense_Mutation_p.Q487E	p.Q587E	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	15	1927	-			539			Protein kinase.			Missense_Mutation	SNP	ENST00000457008.2	37	c.1759C>G		.	.	.	.	.	.	.	.	.	.	G	11.57	1.677802	0.29783	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.48522	0.81;0.81	5.65	4.67	0.58626	.	0.248526	0.40222	N	0.001147	T	0.32763	0.0840	N	0.11756	0.17	0.33787	D	0.624973	B;P	0.44877	0.134;0.845	B;P	0.49922	0.031;0.626	T	0.37103	-0.9720	10	0.05525	T	0.97	.	9.5686	0.39414	0.0:0.1552:0.684:0.1608	.	487;539	E7ETG2;A5YM65	.;.	E	587;487	ENSP00000256797:Q587E;ENSP00000413812:Q487E	ENSP00000256797:Q587E	Q	-	1	0	ERN2	23614207	0.825000	0.29262	1.000000	0.80357	0.914000	0.54420	2.202000	0.42743	1.465000	0.48006	0.655000	0.94253	CAG		0.597	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1			9	6	0	0	0	0.000442599	0	9	6				
AKAP13	11214	broad.mit.edu	37	15	86123011	86123011	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:86123011C>T	ENST00000394518.2	+	7	1807	c.1712C>T	c.(1711-1713)tCa>tTa	p.S571L	AKAP13_ENST00000361243.2_Missense_Mutation_p.S571L|RP11-815J21.2_ENST00000561409.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	571					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ACGGAAACTTCACGAAGTCGT	0.443																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(1711-1713)tCa>tTa		A kinase (PRKA) anchor protein 13							80.0	82.0	81.0					15																	86123011		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86123011C>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.1712C>T	15.37:g.86123011C>T	ENSP00000378026:p.Ser571Leu					AKAP13_ENST00000361243.2_Missense_Mutation_p.S571L|RP11-815J21.2_ENST00000561409.1_RNA	p.S571L	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			7	1807	+			571					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.1712C>T	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157791	0.38119	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540	T;T	0.12774	2.65;2.66	5.76	-0.722	0.11184	.	.	.	.	.	T	0.07999	0.0200	L	0.27053	0.805	0.09310	N	1	B;B	0.14438	0.006;0.01	B;B	0.13407	0.004;0.009	T	0.37407	-0.9707	9	0.87932	D	0	.	1.5626	0.02598	0.1417:0.3867:0.2596:0.212	.	571;571	Q12802;Q12802-2	AKP13_HUMAN;.	L	571;571;570;570	ENSP00000354718:S571L;ENSP00000378026:S571L	ENSP00000354718:S571L	S	+	2	0	AKAP13	83924015	0.000000	0.05858	0.001000	0.08648	0.065000	0.16274	-0.116000	0.10724	-0.286000	0.09076	-0.150000	0.13652	TCA		0.443	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		50	70	0	0	0	0.00361006	0	50	70				
EMX2	2018	broad.mit.edu	37	10	119305325	119305325	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:119305325C>G	ENST00000553456.3	+	2	1413	c.589C>G	c.(589-591)Cag>Gag	p.Q197E	EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_Intron	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	197					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		CACGGAAACTCAGGTGACTGC	0.632																																						ENST00000553456.3																			0				endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12						c.(589-591)Cag>Gag		empty spiracles homeobox 2							36.0	37.0	37.0					10																	119305325		2203	4300	6503	SO:0001583	missense	2018					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:119305325C>G	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.589C>G	10.37:g.119305325C>G	ENSP00000450962:p.Gln197Glu					EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_Intron	p.Q197E	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN		all cancers(201;0.0133)	2	1413	+		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)	197					G3V305|Q96NN8|Q9BQF4	Missense_Mutation	SNP	ENST00000553456.3	37	c.589C>G	CCDS7601.1	.	.	.	.	.	.	.	.	.	.	C	35	5.428473	0.96131	.	.	ENSG00000170370	ENST00000369201	.	.	.	5.9	5.9	0.94986	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.85353	0.5677	M	0.90019	3.08	0.80722	D	1	D	0.56287	0.975	D	0.63877	0.919	D	0.87242	0.2267	9	0.87932	D	0	-14.2995	20.2806	0.98513	0.0:1.0:0.0:0.0	.	197	Q04743	EMX2_HUMAN	E	197	.	ENSP00000358202:Q197E	Q	+	1	0	EMX2	119295315	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.818000	0.86416	2.795000	0.96236	0.643000	0.83706	CAG		0.632	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		5	17	0	0	0	0.000602214	0	5	17				
THOC2	57187	broad.mit.edu	37	X	122778702	122778702	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:122778702G>A	ENST00000245838.8	-	14	1518	c.1487C>T	c.(1486-1488)tCt>tTt	p.S496F	THOC2_ENST00000491737.1_Missense_Mutation_p.S381F|THOC2_ENST00000355725.4_Missense_Mutation_p.S496F	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	496					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTCCATCAAAGAAAGAGATGG	0.333																																						ENST00000245838.8																			0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(1486-1488)tCt>tTt		THO complex 2							106.0	94.0	97.0					X																	122778702		1850	4088	5938	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122778702G>A	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1487C>T	X.37:g.122778702G>A	ENSP00000245838:p.Ser496Phe					THOC2_ENST00000355725.4_Missense_Mutation_p.S496F|THOC2_ENST00000491737.1_Missense_Mutation_p.S381F	p.S496F	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN			14	1518	-			496					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.1487C>T	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660759	0.88154	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	6.08	6.08	0.98989	.	0.398787	0.23939	N	0.043071	D	0.83312	0.5227	M	0.83118	2.625	0.80722	D	1	P;P	0.49862	0.771;0.929	B;P	0.62014	0.355;0.897	D	0.84563	0.0651	9	0.72032	D	0.01	-10.9861	19.5098	0.95137	0.0:0.0:1.0:0.0	.	417;496	B4DKZ6;Q8NI27	.;THOC2_HUMAN	F	496;496;381;417	.	ENSP00000245838:S496F	S	-	2	0	THOC2	122606383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.858000	0.99539	2.562000	0.86427	0.600000	0.82982	TCT		0.333	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			27	46	0	0	0	0.000720815	0	27	46				
RAP1GDS1	5910	broad.mit.edu	37	4	99337959	99337959	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:99337959A>T	ENST00000408927.3	+	8	940	c.827A>T	c.(826-828)cAa>cTa	p.Q276L	RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.Q277L|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.Q228L|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.Q277L|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.Q227L|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.Q185L	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	276					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		ATTGTTCAGCAAAAAGTGGAT	0.363			T	NUP98	T-ALL																																	ENST00000408927.3				Dom	yes		4	4q21-q25	5910	T	"""RAP1, GTP-GDP dissociation stimulator 1"""			L	NUP98		T-ALL		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28						c.(826-828)cAa>cTa		RAP1, GTP-GDP dissociation stimulator 1							120.0	117.0	118.0					4																	99337959		1837	4102	5939	SO:0001583	missense	5910						binding|GTPase activator activity	g.chr4:99337959A>T		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.827A>T	4.37:g.99337959A>T	ENSP00000386153:p.Gln276Leu					RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.Q185L|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.Q228L|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.Q277L|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.Q227L|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.Q277L	p.Q276L	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	8	940	+			276					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	c.827A>T	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	A	17.86	3.492101	0.64074	.	.	ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360	T;T;T;T;T;T	0.39406	1.08;1.6;1.08;1.08;1.08;1.08	5.34	5.34	0.76211	Armadillo-like helical (1);Armadillo-type fold (1);	0.233682	0.44483	D	0.000443	T	0.34774	0.0909	L	0.40543	1.245	0.51012	D	0.9999	B;B;B;P;B;B	0.47762	0.349;0.019;0.011;0.9;0.018;0.017	B;B;B;B;B;B	0.38500	0.142;0.033;0.014;0.275;0.013;0.029	T	0.16541	-1.0399	10	0.40728	T	0.16	-2.5594	15.4845	0.75555	1.0:0.0:0.0:0.0	.	185;227;228;276;277;277	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9	.;.;.;GDS1_HUMAN;.;.	L	228;185;276;277;227;277	ENSP00000369503:Q228L;ENSP00000264572:Q185L;ENSP00000386153:Q276L;ENSP00000407157:Q277L;ENSP00000386223:Q227L;ENSP00000340454:Q277L	ENSP00000264572:Q185L	Q	+	2	0	RAP1GDS1	99556982	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.381000	0.90152	2.240000	0.73641	0.533000	0.62120	CAA		0.363	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		22	11	0	0	0	0.00229938	0	22	11				
NOX1	27035	broad.mit.edu	37	X	100125791	100125791	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:100125791C>T	ENST00000372966.3	-	2	263	c.58G>A	c.(58-60)Ggg>Agg	p.G20R	NOX1_ENST00000372964.1_Missense_Mutation_p.G20R|NOX1_ENST00000372960.4_Missense_Mutation_p.G20R|NOX1_ENST00000217885.5_Missense_Mutation_p.G20R	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	20					angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						ACATTCAGCCCTAACCAAACA	0.383																																						ENST00000372966.3																			0				cervix(1)|lung(3)|ovary(1)|skin(2)	7						c.(58-60)Ggg>Agg		NADPH oxidase 1							111.0	97.0	102.0					X																	100125791		2203	4299	6502	SO:0001583	missense	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100125791C>T	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.58G>A	X.37:g.100125791C>T	ENSP00000362057:p.Gly20Arg					NOX1_ENST00000372964.1_Missense_Mutation_p.G20R|NOX1_ENST00000217885.5_Missense_Mutation_p.G20R|NOX1_ENST00000372960.4_Missense_Mutation_p.G20R	p.G20R	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN			2	263	-			20					A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	c.58G>A	CCDS14474.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.165424	0.38217	.	.	ENSG00000007952	ENST00000372966;ENST00000372964;ENST00000372961;ENST00000217885;ENST00000372960	D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84	3.7	2.83	0.33086	.	0.138708	0.46442	D	0.000287	D	0.96929	0.8997	M	0.83223	2.63	0.49299	D	0.999778	D;D;D	0.89917	1.0;0.997;0.996	D;D;D	0.97110	1.0;0.981;0.957	D	0.95162	0.8282	10	0.31617	T	0.26	-10.9562	8.5395	0.33384	0.0:0.8789:0.0:0.1211	.	20;20;20	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	R	20	ENSP00000362057:G20R;ENSP00000362055:G20R;ENSP00000217885:G20R;ENSP00000362051:G20R	ENSP00000217885:G20R	G	-	1	0	NOX1	100012447	0.997000	0.39634	0.679000	0.29978	0.441000	0.31987	4.304000	0.59104	0.924000	0.37069	0.513000	0.50165	GGG		0.383	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		35	61	0	0	0	0.00283554	0	35	61				
LRP2	4036	broad.mit.edu	37	2	170055350	170055350	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:170055350A>G	ENST00000263816.3	-	45	8809	c.8524T>C	c.(8524-8526)Tgt>Cgt	p.C2842R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2842	LDL-receptor class A 19. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TCTCCGTCACACAAATAAACG	0.368																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(8524-8526)Tgt>Cgt		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						128.0	120.0	123.0					2																	170055350		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170055350A>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8524T>C	2.37:g.170055350A>G	ENSP00000263816:p.Cys2842Arg						p.C2842R	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	45	8809	-			2842			LDL-receptor class A 19.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.8524T>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.680397	0.88542	.	.	ENSG00000081479	ENST00000263816	D	0.99741	-6.6	5.96	5.96	0.96718	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96290	0.9213	10	0.87932	D	0	.	16.4277	0.83824	1.0:0.0:0.0:0.0	.	2842	P98164	LRP2_HUMAN	R	2842	ENSP00000263816:C2842R	ENSP00000263816:C2842R	C	-	1	0	LRP2	169763596	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.271000	0.95698	2.279000	0.76181	0.533000	0.62120	TGT		0.368	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		12	28	0	0	0	0.00136819	0	12	28				
RNASEL	6041	broad.mit.edu	37	1	182551297	182551297	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:182551297G>T	ENST00000367559.3	-	4	1916	c.1663C>A	c.(1663-1665)Cca>Aca	p.P555T	RNASEL_ENST00000539397.1_Missense_Mutation_p.P555T|RNASEL_ENST00000444138.1_Missense_Mutation_p.P555T	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	555	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						tcctcatctggagaaagttga	0.488																																						ENST00000367559.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						c.(1663-1665)Cca>Aca		ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)							187.0	171.0	176.0					1																	182551297		2203	4300	6503	SO:0001583	missense	6041				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182551297G>T	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1663C>A	1.37:g.182551297G>T	ENSP00000356530:p.Pro555Thr					RNASEL_ENST00000444138.1_Missense_Mutation_p.P555T|RNASEL_ENST00000539397.1_Missense_Mutation_p.P555T	p.P555T	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN			4	1916	-			555			Protein kinase.		Q5W0L2|Q6AI46	Missense_Mutation	SNP	ENST00000367559.3	37	c.1663C>A	CCDS1347.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100957	0.76983	.	.	ENSG00000135828	ENST00000367559;ENST00000444138;ENST00000539397	T;T;T	0.18657	2.2;2.2;2.2	5.1	3.22	0.36961	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.760748	0.11577	N	0.550158	T	0.46034	0.1372	M	0.82132	2.575	0.26311	N	0.977829	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.20140	-1.0284	10	0.59425	D	0.04	-5.3147	8.1242	0.30988	0.1893:0.0:0.8107:0.0	.	555;555	Q6AI46;Q05823	.;RN5A_HUMAN	T	555	ENSP00000356530:P555T;ENSP00000411147:P555T;ENSP00000440844:P555T	ENSP00000356530:P555T	P	-	1	0	RNASEL	180817920	1.000000	0.71417	0.615000	0.29064	0.706000	0.40770	1.188000	0.32102	0.651000	0.30788	0.650000	0.86243	CCA		0.488	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		47	110	1	0	4.66543e-40	0.00361006	1.8088e-39	47	110				
PIK3C2G	5288	broad.mit.edu	37	12	18658284	18658284	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:18658284G>T	ENST00000266497.5	+	22	3127	c.3089G>T	c.(3088-3090)gGa>gTa	p.G1030V	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.G1071V|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.G1030V			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1030	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|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)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTCATCCTGGGAGTATGTGAC	0.383																																						ENST00000433979.1																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(3088-3090)gGa>gTa		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							125.0	108.0	113.0					12																	18658284		1936	4154	6090	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18658284G>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3089G>T	12.37:g.18658284G>T	ENSP00000266497:p.Gly1030Val					PIK3C2G_ENST00000266497.5_Missense_Mutation_p.G1030V|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.G1071V	p.G1030V	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			23	3205	+		Hepatocellular(102;0.194)	1030			PI3K/PI4K.		A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.3089G>T	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228952	0.79688	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	D;D;D	0.83591	-1.74;-1.74;-1.74	5.33	4.42	0.53409	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.133951	0.49916	D	0.000128	D	0.93210	0.7837	H	0.95260	3.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94349	0.7577	10	0.87932	D	0	-20.1696	13.5581	0.61773	0.0758:0.0:0.9242:0.0	.	1070;1071;1030	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	V	1030;1030;1071	ENSP00000404845:G1030V;ENSP00000266497:G1030V;ENSP00000445381:G1071V	ENSP00000266497:G1030V	G	+	2	0	PIK3C2G	18549551	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.807000	0.86032	2.771000	0.95319	0.650000	0.86243	GGA		0.383	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		22	16	1	0	4.35082e-09	0.00152264	1.30634e-08	22	16				
IQUB	154865	broad.mit.edu	37	7	123092911	123092911	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:123092911C>A	ENST00000466202.1	-	13	2838	c.2262G>T	c.(2260-2262)caG>caT	p.Q754H	IQUB_ENST00000324698.6_Missense_Mutation_p.Q754H	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	754					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GCACTGGAACCTGAGAAAAAT	0.348																																						ENST00000466202.1																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						c.(2260-2262)caG>caT		IQ motif and ubiquitin domain containing							105.0	100.0	101.0					7																	123092911		2203	4300	6503	SO:0001583	missense	154865							g.chr7:123092911C>A	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.2262G>T	7.37:g.123092911C>A	ENSP00000417769:p.Gln754His					IQUB_ENST00000324698.6_Missense_Mutation_p.Q754H	p.Q754H			Q8NA54	IQUB_HUMAN			13	2838	-			754					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.2262G>T	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637838	0.47049	.	.	ENSG00000164675	ENST00000466202;ENST00000324698	T;T	0.31769	1.48;1.48	5.96	-0.938	0.10412	.	0.200988	0.53938	N	0.000046	T	0.21062	0.0507	L	0.43923	1.385	0.80722	D	1	B	0.19445	0.036	B	0.18561	0.022	T	0.03717	-1.1010	10	0.46703	T	0.11	.	6.9291	0.24432	0.1097:0.5952:0.2148:0.0803	.	754	Q8NA54	IQUB_HUMAN	H	754	ENSP00000417769:Q754H;ENSP00000324882:Q754H	ENSP00000324882:Q754H	Q	-	3	2	IQUB	122880147	0.982000	0.34865	0.858000	0.33744	0.956000	0.61745	0.787000	0.26858	-0.157000	0.11059	0.579000	0.79373	CAG		0.348	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		12	5	1	0	1.49906e-05	0.00244969	4.07227e-05	12	5				
SYTL4	94121	broad.mit.edu	37	X	99931173	99931173	+	Splice_Site	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:99931173C>A	ENST00000372989.1	-	19	2199	c.1868G>T	c.(1867-1869)gGg>gTg	p.G623V	RP11-524D16__A.3_ENST00000568809.1_RNA|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000263033.5_Splice_Site_p.G623V|SYTL4_ENST00000454200.2_Splice_Site_p.G625V|SYTL4_ENST00000455616.1_Splice_Site_p.G623V|SYTL4_ENST00000276141.6_Splice_Site_p.G623V	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	623					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ATTACTGATCCCTGAGGAGAA	0.557																																						ENST00000455616.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.e18-1		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						91.0	75.0	80.0					X																	99931173		2203	4300	6503	SO:0001630	splice_region_variant	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99931173C>A		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1868-1G>T	X.37:g.99931173C>A						SYTL4_ENST00000454200.2_Splice_Site_p.G625_splice|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000276141.6_Splice_Site_p.G623_splice|SYTL4_ENST00000263033.5_Splice_Site_p.G623_splice|SYTL4_ENST00000372989.1_Splice_Site_p.G623_splice	p.G623_splice			Q96C24	SYTL4_HUMAN			18	2214	-			623					Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Splice_Site	SNP	ENST00000372989.1	37	c.1867_splice	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923174	0.73213	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96	5.77	5.77	0.91146	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.126182	0.53938	D	0.000049	D	0.84520	0.5490	M	0.64080	1.96	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	D	0.83619	0.0138	9	.	.	.	.	19.0061	0.92851	0.0:1.0:0.0:0.0	.	623	Q96C24	SYTL4_HUMAN	V	623;623;625;623;623	ENSP00000362080:G623V;ENSP00000390252:G623V;ENSP00000403556:G625V;ENSP00000276141:G623V;ENSP00000263033:G623V	.	G	-	2	0	SYTL4	99817829	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.033000	0.57282	2.437000	0.82529	0.538000	0.68166	GGG		0.557	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737	Missense_Mutation	41	63	1	0	2.00842e-17	0.0025221	6.79685e-17	41	63				
MAP3K19	80122	broad.mit.edu	37	2	135739048	135739048	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:135739048A>G	ENST00000375845.3	-	9	3293	c.3263T>C	c.(3262-3264)gTa>gCa	p.V1088A	MAP3K19_ENST00000358371.4_Missense_Mutation_p.V975A|MAP3K19_ENST00000375844.3_Missense_Mutation_p.V270A|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Missense_Mutation_p.V220A|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1088	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CACCTGTTTTACAGCTATTAG	0.353																																						ENST00000375845.3																			0											c.(3262-3264)gTa>gCa		mitogen-activated protein kinase kinase kinase 19							85.0	82.0	83.0					2																	135739048		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135739048A>G	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3263T>C	2.37:g.135739048A>G	ENSP00000365005:p.Val1088Ala					MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.V975A|MAP3K19_ENST00000375844.3_Missense_Mutation_p.V270A|MAP3K19_ENST00000392917.3_Missense_Mutation_p.V220A|MAP3K19_ENST00000392918.3_Intron	p.V1088A	NM_025052.3	NP_079328.3					9	3293	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.3263T>C	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	A	16.48	3.135325	0.56828	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392917;ENST00000437365	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.75	5.75	0.90469	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	0.42294	D	0.000732	T	0.44159	0.1280	L	0.45051	1.395	0.80722	D	1	P;D;P;D	0.63046	0.905;0.98;0.907;0.992	P;P;P;D	0.69307	0.545;0.885;0.514;0.963	T	0.38067	-0.9678	10	0.59425	D	0.04	.	9.6964	0.40161	0.9232:0.0:0.0768:0.0	.	220;975;270;1088	B7ZMH9;Q56UN5-3;Q56UN5-5;Q56UN5	.;.;.;YSK4_HUMAN	A	1088;975;270;220;478	ENSP00000365005:V1088A;ENSP00000351140:V975A;ENSP00000365004:V270A;ENSP00000376649:V220A;ENSP00000392827:V478A	ENSP00000351140:V975A	V	-	2	0	YSK4	135455518	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.345000	0.79337	2.192000	0.70111	0.460000	0.39030	GTA		0.353	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		33	49	0	0	0	0.0024448	0	33	49				
CAPN10	11132	broad.mit.edu	37	2	241534551	241534551	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:241534551C>A	ENST00000391984.2	+	7	1304	c.1108C>A	c.(1108-1110)Cgg>Agg	p.R370R	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Silent_p.R370R|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000391982.2_Silent_p.R370R|CAPN10_ENST00000404753.3_Silent_p.R370R	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	370	Domain III 1.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		ATTCTGGCTGCGGGTCTCAGA	0.672																																						ENST00000391984.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27						c.(1108-1110)Cgg>Agg		calpain 10							65.0	73.0	70.0					2																	241534551		2203	4300	6503	SO:0001819	synonymous_variant	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241534551C>A	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1108C>A	2.37:g.241534551C>A						CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Silent_p.R370R|CAPN10_ENST00000391982.2_Silent_p.R370R|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Silent_p.R370R	p.R370R	NM_023083.3	NP_075571.1	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	7	1304	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	370			Domain III 1.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Silent	SNP	ENST00000391984.2	37	c.1108C>A	CCDS42838.1																																																																																				0.672	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		40	48	1	0	4.01765e-15	0.00222228	1.33328e-14	40	48				
BUB1B	701	broad.mit.edu	37	15	40494809	40494809	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:40494809C>T	ENST00000287598.6	+	14	1843	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*	BUB1B_ENST00000412359.3_Nonsense_Mutation_p.R564*	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	550			R -> Q (in MVA1; heterozygous compound with nonsense mutation; dbSNP:rs28989187). {ECO:0000269|PubMed:15475955}.		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		AGATCCCCCACGAGTTTTAGC	0.398			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"""Mis, N, F, S"""	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(1648-1650)Cga>Tga		BUB1 mitotic checkpoint serine/threonine kinase B							141.0	144.0	143.0					15																	40494809		2203	4300	6503	SO:0001587	stop_gained	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40494809C>T	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.1648C>T	15.37:g.40494809C>T	ENSP00000287598:p.Arg550*					BUB1B_ENST00000412359.3_Nonsense_Mutation_p.R564*	p.R550*	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	14	1843	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	550		R -> Q (in MVA; heterozygous compound with nonsense mutation; dbSNP:rs28989187).			B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Nonsense_Mutation	SNP	ENST00000287598.6	37	c.1648C>T	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.721764	0.89298	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	.	.	.	5.11	2.04	0.26737	.	0.982101	0.08323	N	0.963531	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	1.1167	7.1519	0.25616	0.3386:0.4817:0.1798:0.0	.	.	.	.	X	550;564;501	.	ENSP00000287598:R550X	R	+	1	2	BUB1B	38282101	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.858000	0.27845	0.194000	0.20326	-0.188000	0.12872	CGA		0.398	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			56	89	0	0	0	0.00361006	0	56	89				
AMY2A	279	broad.mit.edu	37	1	104160135	104160135	+	Missense_Mutation	SNP	C	C	T	rs145483775		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:104160135C>T	ENST00000414303.2	+	1	137	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	25					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	ACAACAAGGACGGACATCTAT	0.443													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19334	0.0		0.0	False		,,,				2504	0.0					ENST00000414303.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(73-75)Cgg>Tgg		amylase, alpha 2A (pancreatic)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	C	TRP/ARG	0,4402		0,0,2201	131.0	109.0	116.0		73	-0.4	0.2	1	dbSNP_134	116	5,8543	3.0+/-9.4	1,3,4270	no	missense	AMY2A	NM_000699.2	101	1,3,6471	TT,TC,CC		0.0585,0.0,0.0386	probably-damaging	25/512	104160135	5,12945	2201	4274	6475	SO:0001583	missense	279				carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding	g.chr1:104160135C>T	BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"""amylase, alpha 2A; pancreatic"""	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.73C>T	1.37:g.104160135C>T	ENSP00000397582:p.Arg25Trp						p.R25W	NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	1	137	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	25					B9EJG1|Q9UBH3	Missense_Mutation	SNP	ENST00000414303.2	37	c.73C>T	CCDS783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	12.42|12.42	1.932249|1.932249	0.34096|0.34096	0.0|0.0	5.85E-4|5.85E-4	ENSG00000243480|ENSG00000243480	ENST00000414303;ENST00000393932|ENST00000423678	.|.	.|.	.|.	3.22|3.22	-0.421|-0.421	0.12332|0.12332	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);|.	0.103907|.	0.64402|.	D|.	0.000006|.	T|T	0.69628|0.69628	0.3132|0.3132	M|M	0.90309|0.90309	3.105|3.105	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.70227|.	0.958;0.968|.	T|T	0.74881|0.74881	-0.3513|-0.3513	9|5	0.87932|.	D|.	0|.	.|.	12.0631|12.0631	0.53574|0.53574	0.6644:0.3356:0.0:0.0|0.6644:0.3356:0.0:0.0	.|.	25;25|.	B9EJG1;P04746|.	.;AMYP_HUMAN|.	W|M	25|23	.|.	ENSP00000377509:R25W|.	R|T	+|+	1|2	2|0	AMY2A|AMY2A	103961658|103961658	0.919000|0.919000	0.31177|0.31177	0.182000|0.182000	0.23118|0.23118	0.414000|0.414000	0.31173|0.31173	2.479000|2.479000	0.45197|0.45197	-0.206000|-0.206000	0.10203|0.10203	0.455000|0.455000	0.32223|0.32223	CGG|ACG		0.443	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	NM_000699		64	111	0	0	0	0.00361006	0	64	111				
NLRP3	114548	broad.mit.edu	37	1	247599293	247599293	+	Silent	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:247599293A>G	ENST00000336119.3	+	6	3266	c.2520A>G	c.(2518-2520)acA>acG	p.T840T	NLRP3_ENST00000391828.3_Silent_p.T840T|NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000391827.2_Silent_p.T783T|NLRP3_ENST00000366496.2_Intron|NLRP3_ENST00000348069.2_Intron	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	840					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCTGCCTCACATCAGCATGTT	0.537																																						ENST00000336119.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(2518-2520)acA>acG		NLR family, pyrin domain containing 3							133.0	105.0	114.0					1																	247599293		2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247599293A>G	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2520A>G	1.37:g.247599293A>G						NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000391828.3_Silent_p.T840T|NLRP3_ENST00000366496.2_Intron|NLRP3_ENST00000391827.2_Silent_p.T783T|NLRP3_ENST00000348069.2_Intron	p.T840T	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		6	3266	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	840					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.2520A>G	CCDS1632.1																																																																																				0.537	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		22	48	0	0	0	0.00278032	0	22	48				
ZNF37A	7587	broad.mit.edu	37	10	38407754	38407754	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:38407754T>G	ENST00000361085.5	+	7	2020	c.1675T>G	c.(1675-1677)Tac>Gac	p.Y559D	ZNF37A_ENST00000351773.3_Missense_Mutation_p.Y559D	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	559					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						CGAGGGAAATTACTCTGGGTG	0.353																																						ENST00000351773.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						c.(1675-1677)Tac>Gac		zinc finger protein 37A							35.0	36.0	35.0					10																	38407754		2203	4300	6503	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38407754T>G	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1675T>G	10.37:g.38407754T>G	ENSP00000354377:p.Tyr559Asp					ZNF37A_ENST00000361085.4_Missense_Mutation_p.Y559D	p.Y559D	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN			8	2505	+			559					B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.1675T>G	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	T	0.082	-1.182210	0.01633	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.07021	3.23;3.23	1.56	-1.27	0.09347	.	.	.	.	.	T	0.04588	0.0125	N	0.14661	0.345	0.09310	N	1	B	0.21452	0.056	B	0.14023	0.01	T	0.38436	-0.9661	9	0.72032	D	0.01	.	5.7679	0.18237	0.0:0.344:0.0:0.656	.	559	P17032	ZN37A_HUMAN	D	559	ENSP00000329141:Y559D;ENSP00000354377:Y559D	ENSP00000329141:Y559D	Y	+	1	0	ZNF37A	38447760	0.007000	0.16637	0.009000	0.14445	0.009000	0.06853	0.123000	0.15708	-0.386000	0.07821	-0.326000	0.08463	TAC		0.353	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		3	7	0	0	0	0.000602214	0	3	7				
CIB3	117286	broad.mit.edu	37	19	16275696	16275696	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:16275696C>A	ENST00000269878.4	-	5	424	c.375G>T	c.(373-375)gcG>gcT	p.A125A	CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Silent_p.A76A	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	125	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CCAGGTCCCACGCACAAATGT	0.597																																						ENST00000269878.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(373-375)gcG>gcT		calcium and integrin binding family member 3							113.0	104.0	107.0					19																	16275696		2203	4300	6503	SO:0001819	synonymous_variant	117286						calcium ion binding	g.chr19:16275696C>A	AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"""EF-hand domain containing"""	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.375G>T	19.37:g.16275696C>A						CIB3_ENST00000379859.3_Silent_p.A76A|CIB3_ENST00000541493.1_5'UTR	p.A125A	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN			5	424	-			125			EF-hand 2.		E7EUX1|Q2M1W0|Q6ISP1	Silent	SNP	ENST00000269878.4	37	c.375G>T	CCDS12340.1																																																																																				0.597	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1	NM_054113		28	87	1	0	1.04121e-07	0.000878237	2.99849e-07	28	87				
ZNF702P	79986	broad.mit.edu	37	19	53473080	53473080	+	RNA	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:53473080T>C	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							GAGATGAATTTTGAACAAAGG	0.373																																						ENST00000600068.1																			0																				92.0	86.0	87.0					19																	53473080		876	1989	2865			79986							g.chr19:53473080T>C																													19.37:g.53473080T>C						ZNF702P_ENST00000270443.4_RNA								0	489	-									RNA	SNP	ENST00000600068.1	37																																																																																						0.373	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000463881.1			18	50	0	0	0	0.000958276	0	18	50				
ENPP1	5167	broad.mit.edu	37	6	132203596	132203596	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:132203596G>C	ENST00000360971.2	+	21	2232	c.2212G>C	c.(2212-2214)Ggg>Cgg	p.G738R		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	738	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AGTGAGTTACGGGTTCCTCTC	0.383																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2212-2214)Ggg>Cgg		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)						113.0	117.0	115.0					6																	132203596		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132203596G>C	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2212G>C	6.37:g.132203596G>C	ENSP00000354238:p.Gly738Arg						p.G738R	NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	21	2232	+	Breast(56;0.0505)		738			Nuclease.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.2212G>C	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230152	0.79688	.	.	ENSG00000197594	ENST00000360971	D	0.97138	-4.26	6.16	6.16	0.99307	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	M	0.88450	2.955	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.99285	1.0897	10	0.87932	D	0	-14.6624	18.6329	0.91366	0.0:0.0:1.0:0.0	.	738	P22413	ENPP1_HUMAN	R	738	ENSP00000354238:G738R	ENSP00000354238:G738R	G	+	1	0	ENPP1	132245289	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	6.338000	0.72963	2.937000	0.99478	0.650000	0.86243	GGG		0.383	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			35	56	0	0	0	0.00148497	0	35	56				
CUBN	8029	broad.mit.edu	37	10	16996484	16996484	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:16996484C>A	ENST00000377833.4	-	32	4824	c.4759G>T	c.(4759-4761)Gct>Tct	p.A1587S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1587	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGGGGTTAGCCAGCTGCTCC	0.532																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(4759-4761)Gct>Tct		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						112.0	88.0	96.0					10																	16996484		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16996484C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4759G>T	10.37:g.16996484C>A	ENSP00000367064:p.Ala1587Ser						p.A1587S	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			32	4824	-			1587			CUB 10.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.4759G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	6.880	0.531774	0.13127	.	.	ENSG00000107611	ENST00000377833	T	0.18016	2.24	5.1	-7.9	0.01169	CUB (5);	1.732140	0.03526	N	0.221768	T	0.05044	0.0135	N	0.03253	-0.375	0.21386	N	0.999708	B	0.02656	0.0	B	0.06405	0.002	T	0.28202	-1.0051	10	0.17832	T	0.49	.	1.6353	0.02740	0.1997:0.2989:0.324:0.1774	.	1587	O60494	CUBN_HUMAN	S	1587	ENSP00000367064:A1587S	ENSP00000367064:A1587S	A	-	1	0	CUBN	17036490	0.009000	0.17119	0.000000	0.03702	0.154000	0.21943	-0.157000	0.10085	-1.157000	0.02815	-0.840000	0.03056	GCT		0.532	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		29	43	1	0	4.59853e-10	0.000878237	1.41257e-09	29	43				
ARHGEF9	23229	broad.mit.edu	37	X	62917154	62917154	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:62917154C>G	ENST00000253401.6	-	4	1212	c.412G>C	c.(412-414)Gac>Cac	p.D138H	ARHGEF9_ENST00000374870.4_Missense_Mutation_p.D36H|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.D117H|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.D85H|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.D136H	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	138	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTGAACATGTCCCTTCTCTTC	0.453																																						ENST00000253401.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						c.(412-414)Gac>Cac		Cdc42 guanine nucleotide exchange factor (GEF) 9							104.0	85.0	91.0					X																	62917154		2203	4300	6503	SO:0001583	missense	23229				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chrX:62917154C>G	AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.412G>C	X.37:g.62917154C>G	ENSP00000253401:p.Asp138His					ARHGEF9_ENST00000374872.1_Missense_Mutation_p.D117H|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.D36H|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.D85H|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.D136H|ARHGEF9_ENST00000495564.1_5'UTR	p.D138H	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN			4	1212	-			138			DH.		A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	ENST00000253401.6	37	c.412G>C	CCDS35315.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492018	0.84962	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	5.59	5.59	0.84812	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.84719	0.5534	M	0.88241	2.94	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.78314	0.991;0.986;0.983	D	0.87606	0.2500	10	0.72032	D	0.01	.	17.019	0.86428	0.0:1.0:0.0:0.0	.	85;136;138	B4DHC7;B1AMR4;O43307	.;.;ARHG9_HUMAN	H	138;136;85;36;117	ENSP00000253401:D138H;ENSP00000364012:D136H;ENSP00000399994:D85H;ENSP00000364004:D36H;ENSP00000364006:D117H	ENSP00000253401:D138H	D	-	1	0	ARHGEF9	62833879	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.296000	0.78790	2.333000	0.79357	0.513000	0.50165	GAC		0.453	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056937.1			21	41	0	0	0	0.00152264	0	21	41				
MAP2	4133	broad.mit.edu	37	2	210545497	210545497	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:210545497C>T	ENST00000360351.4	+	6	906	c.400C>T	c.(400-402)Cct>Tct	p.P134S	MAP2_ENST00000392194.1_Missense_Mutation_p.P134S|MAP2_ENST00000447185.1_Missense_Mutation_p.P134S|MAP2_ENST00000361559.4_Missense_Mutation_p.P134S|MAP2_ENST00000199940.6_Missense_Mutation_p.P134S	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	134					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGCTAATCTGCCTCCTTCTCC	0.433																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(400-402)Cct>Tct		microtubule-associated protein 2	Estramustine(DB01196)						229.0	233.0	231.0					2																	210545497		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210545497C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.400C>T	2.37:g.210545497C>T	ENSP00000353508:p.Pro134Ser					MAP2_ENST00000199940.6_Missense_Mutation_p.P134S|MAP2_ENST00000361559.4_Missense_Mutation_p.P134S|MAP2_ENST00000392194.1_Missense_Mutation_p.P134S|MAP2_ENST00000447185.1_Missense_Mutation_p.P134S	p.P134S	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	6	906	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	134					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.400C>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.881774	0.91740	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185;ENST00000452717	T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.79	5.79	0.91817	.	0.000000	0.56097	D	0.000024	T	0.35624	0.0938	N	0.24115	0.695	0.58432	D	0.999995	D;D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;1.0;0.979	D;D;D;D;D;P	0.91635	0.999;0.998;0.986;0.994;0.998;0.604	T	0.05146	-1.0903	10	0.40728	T	0.16	-14.615	20.0371	0.97565	0.0:1.0:0.0:0.0	.	134;134;135;134;134;134	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	S	134;134;134;134;134;134;60	ENSP00000199940:P134S;ENSP00000353508:P134S;ENSP00000355290:P134S;ENSP00000409969:P134S;ENSP00000376032:P134S;ENSP00000392164:P134S;ENSP00000388824:P60S	ENSP00000199940:P134S	P	+	1	0	MAP2	210253742	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.429000	0.73387	2.734000	0.93682	0.655000	0.94253	CCT		0.433	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		88	147	0	0	0	0.00361006	0	88	147				
FAM199X	139231	broad.mit.edu	37	X	103432977	103432977	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:103432977G>A	ENST00000493442.1	+	5	1152	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	FAM199X_ENST00000299906.5_Intron	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	329										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GAGCGGATTCGGGATTCAAAA	0.398																																						ENST00000493442.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						c.(985-987)cGg>cAg		family with sequence similarity 199, X-linked							96.0	99.0	98.0					X																	103432977		2203	4300	6503	SO:0001583	missense	139231							g.chrX:103432977G>A	BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"""chromosome X open reading frame 39"""	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.986G>A	X.37:g.103432977G>A	ENSP00000417581:p.Arg329Gln					FAM199X_ENST00000299906.5_Intron	p.R329Q	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN			5	1152	+			329					Q8WVP6|Q96AV3	Missense_Mutation	SNP	ENST00000493442.1	37	c.986G>A	CCDS35364.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586329	0.86851	.	.	ENSG00000123575	ENST00000493442	T	0.45276	0.9	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.59770	0.2218	L	0.57536	1.79	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	T	0.58498	-0.7626	9	.	.	.	-8.2675	16.8491	0.85989	0.0:0.0:1.0:0.0	.	329	Q6PEV8	F199X_HUMAN	Q	329	ENSP00000417581:R329Q	.	R	+	2	0	FAM199X	103319633	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.442000	0.97566	2.270000	0.75569	0.506000	0.49869	CGG		0.398	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057764.1	NM_207318		77	133	0	0	0	0.00361006	0	77	133				
FAM171A1	221061	broad.mit.edu	37	10	15255068	15255068	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:15255068G>A	ENST00000378116.4	-	8	2525	c.2519C>T	c.(2518-2520)gCg>gTg	p.A840V	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	840						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGGGGCATCCGCAGTCCGTCT	0.617																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(2518-2520)gCg>gTg		family with sequence similarity 171, member A1							90.0	97.0	94.0					10																	15255068		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15255068G>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2519C>T	10.37:g.15255068G>A	ENSP00000367356:p.Ala840Val						p.A840V	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	2525	-			840					D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.2519C>T	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	G	0.912	-0.718841	0.03182	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.30714	1.52	4.99	1.92	0.25849	.	0.724786	0.13610	N	0.375219	T	0.11196	0.0273	N	0.02539	-0.55	0.09310	N	0.999999	B	0.09022	0.002	B	0.08055	0.003	T	0.28650	-1.0037	10	0.25751	T	0.34	-2.4769	6.9486	0.24532	0.3974:0.0:0.6026:0.0	.	840	Q5VUB5	F1711_HUMAN	V	840;839	ENSP00000367356:A840V	ENSP00000367356:A840V	A	-	2	0	FAM171A1	15295074	0.807000	0.29009	0.002000	0.10522	0.108000	0.19459	1.263000	0.33004	0.692000	0.31613	0.563000	0.77884	GCG		0.617	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		39	83	0	0	0	0.00285205	0	39	83				
TCN1	6947	broad.mit.edu	37	11	59622199	59622199	+	Silent	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:59622199A>G	ENST00000257264.3	-	7	1151	c.1047T>C	c.(1045-1047)aaT>aaC	p.N349N	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	349	Globular C-terminal beta domain.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cobalamin binding (GO:0031419)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCACAGTGACATTGGTGAAAT	0.403																																						ENST00000257264.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1045-1047)aaT>aaC		transcobalamin I (vitamin B12 binding protein, R binder family)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						166.0	152.0	157.0					11																	59622199		2201	4295	6496	SO:0001819	synonymous_variant	6947				cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	g.chr11:59622199A>G	J05068	CCDS7978.1	11q11-q12	2008-07-21			ENSG00000134827	ENSG00000134827			11652	protein-coding gene	gene with protein product	"""haptocorin"", ""haptocorrin"""	189905					Standard	NM_001062		Approved	TCI, TC1	uc001noj.2	P20061	OTTHUMG00000167400	ENST00000257264.3:c.1047T>C	11.37:g.59622199A>G						TCN1_ENST00000532419.1_5'UTR	p.N349N	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN			7	1151	-		all_epithelial(135;0.198)	349					A8KAC5|Q8WV77	Silent	SNP	ENST00000257264.3	37	c.1047T>C	CCDS7978.1																																																																																				0.403	TCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394503.1	NM_001062		36	59	0	0	0	0.00111076	0	36	59				
IGKJ5	28946	broad.mit.edu	37	2	89161166	89161166	+	RNA	SNP	G	G	T	rs189855677	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:89161166G>T	ENST00000390238.2	-	0	0				IGKJ4_ENST00000390239.2_RNA|AC096579.13_ENST00000452230.1_RNA|IGKJ1_ENST00000390242.2_RNA|AC096579.7_ENST00000430694.1_RNA|IGKJ2_ENST00000390241.2_RNA|IGKJ3_ENST00000390240.2_RNA					immunoglobulin kappa joining 5																		ATGTTCCCCAGGACATTTCTG	0.393													G|||	2	0.000399361	0.0	0.0014	5008	,	,		9793	0.001		0.0	False		,,,				2504	0.0					ENST00000430694.1																			0																																																			3514							g.chr2:89161166G>T	J00242		2p11.2	2012-10-05			ENSG00000211593	ENSG00000211593		"""Immunoglobulins / IGK locus"""	5723	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151676		2.37:g.89161166G>T														0	721	-									RNA	SNP	ENST00000390238.2	37																																																																																						0.393	IGKJ5-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_J_gene	IG_J_gene	OTTHUMT00000323474.1	NG_000834		22	29	1	0	1.2644e-06	0.00152264	3.5309e-06	22	29				
COL11A1	1301	broad.mit.edu	37	1	103440441	103440441	+	Splice_Site	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:103440441T>A	ENST00000370096.3	-	36	3067		c.e36-2		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000358392.2_Splice_Site	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGAGGACCCTGGAAATAAAA	0.388																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.e36-2		collagen, type XI, alpha 1							53.0	61.0	58.0					1																	103440441		2203	4300	6503	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103440441T>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2755-2A>T	1.37:g.103440441T>A						COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site		NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	36	3108	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)						B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	ENST00000370096.3	37		CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695054	0.68386	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1613	0.65448	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A1	103213029	1.000000	0.71417	0.937000	0.37676	0.682000	0.39822	7.324000	0.79115	2.025000	0.59659	0.477000	0.44152	.		0.388	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Intron	23	28	0	0	0	0.00332997	0	23	28				
HDAC4	9759	broad.mit.edu	37	2	240029767	240029767	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:240029767C>T	ENST00000345617.3	-	15	2867	c.2076G>A	c.(2074-2076)acG>acA	p.T692T	HDAC4_ENST00000543185.1_Silent_p.T276T|HDAC4_ENST00000541256.1_Silent_p.T666T	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	692	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCCGGAGGCCCGTCTCCTGCA	0.677																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(2074-2076)acG>acA		histone deacetylase 4							29.0	30.0	30.0					2																	240029767		2200	4295	6495	SO:0001819	synonymous_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240029767C>T	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2076G>A	2.37:g.240029767C>T						HDAC4_ENST00000543185.1_Silent_p.T276T|HDAC4_ENST00000541256.1_Silent_p.T666T	p.T692T	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	15	2867	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	692			Histone deacetylase.		Q9UND6	Silent	SNP	ENST00000345617.3	37	c.2076G>A	CCDS2529.1																																																																																				0.677	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		11	20	0	0	0	0.00136819	0	11	20				
MIEF1	54471	broad.mit.edu	37	22	39910115	39910115	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr22:39910115C>T	ENST00000325301.2	+	6	1603	c.1179C>T	c.(1177-1179)gcC>gcT	p.A393A	MIEF1_ENST00000404569.1_Silent_p.A393A|MIEF1_ENST00000402881.1_Silent_p.A393A	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	393					mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)										TCCACTTGGCCCAGGAGGAGG	0.592											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325301.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16						c.(1177-1179)gcC>gcT									77.0	71.0	73.0					22																	39910115		2203	4300	6503	SO:0001819	synonymous_variant	54471					integral to membrane|mitochondrion		g.chr22:39910115C>T	AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.1179C>T	22.37:g.39910115C>T			OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	SMCR7L_ENST00000402881.1_Silent_p.A393A|SMCR7L_ENST00000404569.1_Silent_p.A393A	p.A393A	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN			6	1603	+	Melanoma(58;0.04)		393					Q7L890|Q9BUI3	Silent	SNP	ENST00000325301.2	37	c.1179C>T	CCDS13995.1																																																																																				0.592	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321325.1	NM_019008		21	11	0	0	0	0.00121646	0	21	11				
DCDC1	341019	broad.mit.edu	37	11	30928266	30928266	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:30928266A>G	ENST00000597505.1	-	28	3924	c.3925T>C	c.(3925-3927)Tgt>Cgt	p.C1309R	DCDC1_ENST00000339794.5_Missense_Mutation_p.C388R|DCDC1_ENST00000406071.2_Missense_Mutation_p.C44R			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GAGAGATAACAGTATCCCTAA	0.368																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.(3925-3927)Tgt>Cgt		doublecortin domain containing 1							64.0	60.0	61.0					11																	30928266		2202	4299	6501	SO:0001583	missense	341019				intracellular signal transduction			g.chr11:30928266A>G	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.3925T>C	11.37:g.30928266A>G	ENSP00000472625:p.Cys1309Arg					DCDC1_ENST00000406071.2_Missense_Mutation_p.C44R|DCDC1_ENST00000339794.5_Missense_Mutation_p.C388R	p.C1309R			P59894	DCDC1_HUMAN			28	3924	-	Lung SC(675;0.225)		0					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.3925T>C		.	.	.	.	.	.	.	.	.	.	A	3.096	-0.185758	0.06340	.	.	ENSG00000170959	ENST00000406071;ENST00000339794	T	0.38401	1.14	5.77	3.41	0.39046	.	0.678626	0.13609	N	0.375244	T	0.19765	0.0475	N	0.14661	0.345	0.32877	D	0.509977	B	0.17465	0.022	B	0.15484	0.013	T	0.19192	-1.0313	10	0.31617	T	0.26	-0.4789	5.8608	0.18745	0.7738:0.0:0.0793:0.1469	.	388	Q6ZRR9	DCDC5_HUMAN	R	44;388	ENSP00000341700:C388R	ENSP00000341700:C388R	C	-	1	0	DCDC5	30884842	0.997000	0.39634	0.253000	0.24343	0.041000	0.13682	3.638000	0.54332	0.435000	0.26365	-0.256000	0.11100	TGT		0.368	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		9	15	0	0	0	0.000673444	0	9	15				
ATXN7L3	56970	broad.mit.edu	37	17	42274669	42274669	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:42274669C>A	ENST00000454077.2	-	3	282	c.283G>T	c.(283-285)Gcc>Tcc	p.A95S	ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000389384.4_Missense_Mutation_p.A95S|CTB-175E5.7_ENST00000586560.1_RNA	NM_020218.1	NP_064603.1			ataxin 7-like 3											kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AAGCGGGAGGCGGCAATGCTG	0.592																																						ENST00000389384.4																			0				kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						c.(283-285)Gcc>Tcc		ataxin 7-like 3							81.0	94.0	90.0					17																	42274669		2047	4186	6233	SO:0001583	missense	56970				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding	g.chr17:42274669C>A	AK056002	CCDS42345.1, CCDS45697.1	17q21	2010-03-10			ENSG00000087152	ENSG00000087152			25416	protein-coding gene	gene with protein product						15115762	Standard	NM_001098833		Approved	DKFZp761G2113	uc002ifz.3	Q14CW9		ENST00000454077.2:c.283G>T	17.37:g.42274669C>A	ENSP00000397259:p.Ala95Ser					ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.A95S	p.A95S	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	3	591	-		Breast(137;0.00765)|Prostate(33;0.0181)	95						Missense_Mutation	SNP	ENST00000454077.2	37	c.283G>T	CCDS45697.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644277	0.67244	.	.	ENSG00000087152	ENST00000454077;ENST00000389384	.	.	.	4.75	3.79	0.43588	.	0.000000	0.64402	D	0.000001	T	0.70815	0.3267	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.995	T	0.70938	-0.4736	9	0.49607	T	0.09	.	11.8012	0.52128	0.0:0.9127:0.0:0.0873	.	95;95	Q14CW9;Q14CW9-2	AT7L3_HUMAN;.	S	95	.	ENSP00000374035:A95S	A	-	1	0	ATXN7L3	39630195	1.000000	0.71417	0.955000	0.39395	0.914000	0.54420	7.192000	0.77771	1.005000	0.39183	0.655000	0.94253	GCC		0.592	ATXN7L3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457724.1			74	84	1	0	2.23852e-25	0.00361006	8.07757e-25	74	84				
RP1	6101	broad.mit.edu	37	8	55542017	55542017	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:55542017C>G	ENST00000220676.1	+	4	5723	c.5575C>G	c.(5575-5577)Cag>Gag	p.Q1859E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1859					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGGTAGTCATCAGTCAGAAAG	0.418																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(5575-5577)Cag>Gag		retinitis pigmentosa 1 (autosomal dominant)							128.0	122.0	124.0					8																	55542017		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542017C>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5575C>G	8.37:g.55542017C>G	ENSP00000220676:p.Gln1859Glu						p.Q1859E	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5723	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1859						Missense_Mutation	SNP	ENST00000220676.1	37	c.5575C>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.571479	0.00895	.	.	ENSG00000104237	ENST00000220676	T	0.41758	0.99	5.56	1.34	0.21922	.	1.525810	0.04057	N	0.305779	T	0.26521	0.0648	N	0.08118	0	0.09310	N	1	B	0.26318	0.146	B	0.22152	0.038	T	0.27502	-1.0072	10	0.36615	T	0.2	.	10.5418	0.45037	0.1934:0.6956:0.1111:0.0	.	1859	P56715	RP1_HUMAN	E	1859	ENSP00000220676:Q1859E	ENSP00000220676:Q1859E	Q	+	1	0	RP1	55704570	0.000000	0.05858	0.000000	0.03702	0.527000	0.34593	0.496000	0.22499	-0.047000	0.13423	0.655000	0.94253	CAG		0.418	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		24	20	0	0	0	0.00278032	0	24	20				
SNX17	9784	broad.mit.edu	37	2	27596131	27596131	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:27596131C>A	ENST00000233575.2	+	4	496	c.274C>A	c.(274-276)Ctt>Att	p.L92I	EIF2B4_ENST00000445933.2_5'Flank|SNX17_ENST00000543024.1_De_novo_Start_OutOfFrame|SNX17_ENST00000537606.1_Missense_Mutation_p.L67I|EIF2B4_ENST00000493344.2_5'Flank|SNX17_ENST00000542478.1_De_novo_Start_OutOfFrame|EIF2B4_ENST00000347454.4_5'Flank	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	92	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACCCATTGCTTGGGAGCAG	0.527																																						ENST00000542478.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14								sorting nexin 17							114.0	102.0	106.0					2																	27596131		2203	4300	6503	SO:0001583	missense	9784				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding	g.chr2:27596131C>A	D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.274C>A	2.37:g.27596131C>A	ENSP00000233575:p.Leu92Ile					SNX17_ENST00000233575.2_Missense_Mutation_p.L92I|SNX17_ENST00000537606.1_Missense_Mutation_p.L67I|SNX17_ENST00000543024.1_De_novo_Start_OutOfFrame				Q15036	SNX17_HUMAN			0	301	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							B4DQM7|Q53HN7|Q6IAS3	Translation_Start_Site	SNP	ENST00000233575.2	37		CCDS1750.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916951	0.73098	.	.	ENSG00000115234	ENST00000233575;ENST00000537606	T;T	0.45668	0.89;0.89	4.95	4.95	0.65309	Phox homologous domain (5);	0.275863	0.36778	N	0.002412	T	0.24431	0.0592	N	0.17594	0.5	0.80722	D	1	B;B;B;B	0.25563	0.036;0.057;0.129;0.037	B;B;B;B	0.32342	0.068;0.144;0.103;0.1	T	0.07366	-1.0776	10	0.02654	T	1	-7.0089	10.4852	0.44717	0.0:0.9105:0.0:0.0895	.	67;80;72;92	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	I	92;67	ENSP00000233575:L92I;ENSP00000439208:L67I	ENSP00000233575:L92I	L	+	1	0	SNX17	27449635	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.910000	0.63321	2.567000	0.86603	0.462000	0.41574	CTT		0.527	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215024.1	NM_014748		17	68	1	0	0.000958276	0.000958276	0.00249027	17	68				
GLYAT	10249	broad.mit.edu	37	11	58491896	58491896	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:58491896G>A	ENST00000344743.3	-	2	215	c.74C>T	c.(73-75)tCc>tTc	p.S25F	GLYAT_ENST00000278400.3_Missense_Mutation_p.S25F|GLYAT_ENST00000529732.1_Missense_Mutation_p.S25F	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	25					acyl-CoA metabolic process (GO:0006637)|glycine metabolic process (GO:0006544)|monocarboxylic acid metabolic process (GO:0032787)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glycine N-acyltransferase activity (GO:0047961)|glycine N-benzoyltransferase activity (GO:0047962)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CACCTTTAAGGATGCTGGGAG	0.428																																						ENST00000344743.3																			0				NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						c.(73-75)tCc>tTc		glycine-N-acyltransferase	Glycine(DB00145)						100.0	97.0	98.0					11																	58491896		2201	4295	6496	SO:0001583	missense	10249				acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	g.chr11:58491896G>A	AF023466	CCDS7970.1, CCDS7971.1	11q12.1	2008-03-11					2.3.1.13		13734	protein-coding gene	gene with protein product		607424					Standard	NM_201648		Approved	GAT, ACGNAT	uc001nnb.3	Q6IB77		ENST00000344743.3:c.74C>T	11.37:g.58491896G>A	ENSP00000340200:p.Ser25Phe					GLYAT_ENST00000278400.3_Missense_Mutation_p.S25F|GLYAT_ENST00000529732.1_Missense_Mutation_p.S25F	p.S25F	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN			2	215	-		Breast(21;0.0044)|all_epithelial(135;0.0157)	25					O14833|Q96QK7	Missense_Mutation	SNP	ENST00000344743.3	37	c.74C>T	CCDS7970.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992222	0.35131	.	.	ENSG00000149124	ENST00000344743;ENST00000529732;ENST00000278400	T;T;T	0.25912	1.77;1.77;1.77	4.65	3.74	0.42951	Glycine N-acyltransferase, N-terminal (1);	0.263656	0.36519	N	0.002548	T	0.55657	0.1934	M	0.92507	3.315	0.35490	D	0.798938	D;D	0.89917	1.0;1.0	D;D	0.79108	0.982;0.992	T	0.70952	-0.4732	10	0.87932	D	0	-23.5214	8.7447	0.34578	0.1001:0.0:0.8999:0.0	.	25;25	Q6IB77-2;Q6IB77	.;GLYAT_HUMAN	F	25	ENSP00000340200:S25F;ENSP00000431688:S25F;ENSP00000278400:S25F	ENSP00000278400:S25F	S	-	2	0	GLYAT	58248472	0.989000	0.36119	0.897000	0.35233	0.030000	0.12068	2.630000	0.46494	1.558000	0.49541	0.655000	0.94253	TCC		0.428	GLYAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394593.1			50	82	0	0	0	0.00361006	0	50	82				
GTF2A1L	11036	broad.mit.edu	37	2	48873734	48873734	+	Silent	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:48873734A>G	ENST00000403751.3	+	6	568	c.531A>G	c.(529-531)ccA>ccG	p.P177P	GTF2A1L_ENST00000430487.2_Silent_p.P143P|STON1-GTF2A1L_ENST00000394754.1_Silent_p.P881P|STON1-GTF2A1L_ENST00000402114.2_Silent_p.P881P|STON1-GTF2A1L_ENST00000394751.3_Silent_p.P834P|STON1-GTF2A1L_ENST00000405008.1_Silent_p.P881P|STON1-GTF2A1L_ENST00000309827.2_Silent_p.P881P|LHCGR_ENST00000420913.3_5'UTR	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	177					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATTGAATCCATGGTCTCTTC	0.428																																						ENST00000394754.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91						c.(2641-2643)ccA>ccG									95.0	94.0	94.0					2																	48873734		2203	4300	6503	SO:0001819	synonymous_variant	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48873734A>G	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.531A>G	2.37:g.48873734A>G						LHCGR_ENST00000420913.3_5'UTR|GTF2A1L_ENST00000430487.2_Silent_p.P143P|STON1-GTF2A1L_ENST00000394751.3_Silent_p.P834P|STON1-GTF2A1L_ENST00000402114.2_Silent_p.P881P|GTF2A1L_ENST00000403751.3_Silent_p.P177P|STON1-GTF2A1L_ENST00000405008.1_Silent_p.P881P|STON1-GTF2A1L_ENST00000309827.2_Silent_p.P881P	p.P881P	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		8	2757	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	834					B4DY14|Q53FD9|Q5D050	Silent	SNP	ENST00000403751.3	37	c.2643A>G	CCDS46281.1																																																																																				0.428	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		39	32	0	0	0	0.00428921	0	39	32				
MERTK	10461	broad.mit.edu	37	2	112754924	112754924	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:112754924C>T	ENST00000295408.4	+	10	1732	c.1475C>T	c.(1474-1476)tCa>tTa	p.S492L	MERTK_ENST00000421804.2_Missense_Mutation_p.S492L|MERTK_ENST00000409780.1_Missense_Mutation_p.S316L			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	492					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GCCCCCTCTTCAACTCCGGCG	0.443																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(1474-1476)tCa>tTa		c-mer proto-oncogene tyrosine kinase							197.0	195.0	196.0					2																	112754924		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112754924C>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1475C>T	2.37:g.112754924C>T	ENSP00000295408:p.Ser492Leu					MERTK_ENST00000409780.1_Missense_Mutation_p.S316L|MERTK_ENST00000421804.2_Missense_Mutation_p.S492L	p.S492L			Q12866	MERTK_HUMAN			10	1732	+			492					Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.1475C>T	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076423	0.76415	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.76186	-1.0;-1.0;-0.97	5.85	5.85	0.93711	.	0.000000	0.28521	U	0.015055	D	0.84745	0.5540	M	0.73962	2.25	0.53005	D	0.999967	D	0.76494	0.999	D	0.64042	0.921	D	0.85039	0.0922	10	0.59425	D	0.04	-17.912	16.0324	0.80588	0.0:1.0:0.0:0.0	.	492	Q12866	MERTK_HUMAN	L	492;492;316	ENSP00000295408:S492L;ENSP00000389152:S492L;ENSP00000387277:S316L	ENSP00000295408:S492L	S	+	2	0	MERTK	112471395	0.989000	0.36119	0.199000	0.23439	0.689000	0.40095	4.727000	0.61993	2.932000	0.99384	0.643000	0.83706	TCA		0.443	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			87	165	0	0	0	0.00361006	0	87	165				
OR52E4	390081	broad.mit.edu	37	11	5905604	5905604	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:5905604T>A	ENST00000316987.2	+	1	104	c.82T>A	c.(82-84)Tgg>Agg	p.W28R		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	28						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)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTACATATCTGGATTTCTTT	0.443																																						ENST00000316987.2																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(82-84)Tgg>Agg		olfactory receptor, family 52, subfamily E, member 4							200.0	191.0	194.0					11																	5905604		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5905604T>A	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.82T>A	11.37:g.5905604T>A	ENSP00000321426:p.Trp28Arg						p.W28R	NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	104	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	28					Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.82T>A	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.313915	0.60414	.	.	ENSG00000180974	ENST00000316987	T	0.00321	8.11	5.04	5.04	0.67666	.	0.000000	0.47093	D	0.000248	T	0.01029	0.0034	H	0.95645	3.7	0.46542	D	0.999094	D	0.76494	0.999	D	0.73380	0.98	T	0.49163	-0.8968	10	0.87932	D	0	.	13.727	0.62765	0.0:0.0:0.0:1.0	.	28	Q8NGH9	O52E4_HUMAN	R	28	ENSP00000321426:W28R	ENSP00000321426:W28R	W	+	1	0	OR52E4	5862180	1.000000	0.71417	0.944000	0.38274	0.573000	0.36030	4.877000	0.63086	2.106000	0.64143	0.523000	0.50628	TGG		0.443	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		80	117	0	0	0	0.00361006	0	80	117				
DCC	1630	broad.mit.edu	37	18	50866235	50866235	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:50866235C>A	ENST00000442544.2	+	15	2933	c.2317C>A	c.(2317-2319)Cgt>Agt	p.R773S	DCC_ENST00000412726.1_Missense_Mutation_p.R621S|DCC_ENST00000581580.1_Missense_Mutation_p.R428S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	773	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGAGACAGTGCGTGTGGACAG	0.418																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(2317-2319)Cgt>Agt		deleted in colorectal carcinoma							150.0	126.0	134.0					18																	50866235		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50866235C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2317C>A	18.37:g.50866235C>A	ENSP00000389140:p.Arg773Ser					DCC_ENST00000412726.1_Missense_Mutation_p.R621S|DCC_ENST00000581580.1_Missense_Mutation_p.R428S	p.R773S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	15	2933	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	773			Fibronectin type-III 4.			Missense_Mutation	SNP	ENST00000442544.2	37	c.2317C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.217567	0.39201	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.55234	0.53;0.53	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.58977	0.2160	L	0.41906	1.305	0.50467	D	0.99987	P;P;P	0.45768	0.65;0.65;0.866	P;P;P	0.56398	0.797;0.722;0.761	T	0.60959	-0.7159	10	0.72032	D	0.01	.	12.852	0.57862	0.1633:0.8367:0.0:0.0	.	621;621;773	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	S	773;706;621	ENSP00000389140:R773S;ENSP00000397322:R621S	ENSP00000304146:R706S	R	+	1	0	DCC	49120233	0.655000	0.27376	1.000000	0.80357	0.998000	0.95712	0.967000	0.29344	2.565000	0.86533	0.655000	0.94253	CGT		0.418	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		68	49	1	0	3.13765e-25	0.00361006	1.1288e-24	68	49				
PCDHA2	56146	broad.mit.edu	37	5	140176493	140176493	+	Silent	SNP	C	C	T	rs140366950		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:140176493C>T	ENST00000526136.1	+	1	1944	c.1944C>T	c.(1942-1944)ctC>ctT	p.L648L	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.L648L|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.L648L	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	648	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGCCTACTCGTGCTGGTGA	0.652																																						ENST00000526136.1																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71						c.(1942-1944)ctC>ctT				C	,,,	1,4405	2.1+/-5.4	0,1,2202	77.0	75.0	75.0		,1944,,1944	-2.5	0.0	5	dbSNP_134	75	0,8600		0,0,4300	no	intron,coding-synonymous,intron,coding-synonymous	PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_031411.1,NM_031495.1	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	,648/949,,648/825	140176493	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56146							g.chr5:140176493C>T	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.1944C>T	5.37:g.140176493C>T						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.L648L|PCDHA2_ENST00000378132.1_Silent_p.L648L	p.L648L	NM_018905.2	NP_061728.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1944	+								O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.1944C>T	CCDS54914.1																																																																																				0.652	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3	NM_018905		48	16	0	0	0	0.00361006	0	48	16				
GPR50	9248	broad.mit.edu	37	X	150348250	150348250	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:150348250C>G	ENST00000218316.3	+	2	264	c.195C>G	c.(193-195)atC>atG	p.I65M	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	65					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCAACATCTTCGTGGTCA	0.488																																						ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(193-195)atC>atG		G protein-coupled receptor 50							284.0	275.0	278.0					X																	150348250		2085	4203	6288	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150348250C>G	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.195C>G	X.37:g.150348250C>G	ENSP00000218316:p.Ile65Met						p.I65M	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	264	+	Acute lymphoblastic leukemia(192;6.56e-05)		65					Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.195C>G	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	4.554	0.102888	0.08731	.	.	ENSG00000102195	ENST00000535473;ENST00000218316	T	0.73789	-0.78	4.26	2.47	0.30058	GPCR, rhodopsin-like superfamily (1);	0.105374	0.64402	D	0.000005	T	0.61489	0.2351	L	0.33792	1.035	0.36913	D	0.891004	B;B	0.25743	0.133;0.011	B;B	0.31946	0.138;0.063	T	0.54984	-0.8211	10	0.33141	T	0.24	-7.7515	6.9763	0.24677	0.0:0.7235:0.1725:0.104	.	18;65	F5H1S3;Q13585	.;MTR1L_HUMAN	M	18;65	ENSP00000218316:I65M	ENSP00000218316:I65M	I	+	3	3	GPR50	150098908	1.000000	0.71417	0.853000	0.33588	0.333000	0.28666	2.981000	0.49329	0.237000	0.21200	-0.312000	0.09012	ATC		0.488	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		152	317	0	0	0	0.00361006	0	152	317				
COL27A1	85301	broad.mit.edu	37	9	117071686	117071686	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:117071686C>T	ENST00000356083.3	+	60	5755	c.5364C>T	c.(5362-5364)ttC>ttT	p.F1788F		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1788	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCGTACGCTTCCGGGCCTGGA	0.607																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(5362-5364)ttC>ttT		collagen, type XXVII, alpha 1							74.0	74.0	74.0					9																	117071686		2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117071686C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5364C>T	9.37:g.117071686C>T							p.F1788F	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			60	5755	+			1788			Fibrillar collagen NC1.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.5364C>T	CCDS6802.1																																																																																				0.607	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		46	66	0	0	0	0.00285205	0	46	66				
ANO1	55107	broad.mit.edu	37	11	70033950	70033950	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:70033950T>A	ENST00000355303.5	+	26	3106	c.2801T>A	c.(2800-2802)tTc>tAc	p.F934Y	ANO1_ENST00000531349.1_Missense_Mutation_p.F643Y|ANO1_ENST00000538023.1_Missense_Mutation_p.F934Y|ANO1_ENST00000530676.1_Missense_Mutation_p.F788Y|ANO1_ENST00000398543.2_Missense_Mutation_p.F788Y|ANO1_ENST00000525494.1_3'UTR|ANO1-AS1_ENST00000524987.1_RNA	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	934					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	GTGGAGCTGTTCATGCGGGAG	0.577																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(2800-2802)tTc>tAc		anoctamin 1, calcium activated chloride channel							36.0	47.0	43.0					11																	70033950		2133	4250	6383	SO:0001583	missense	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70033950T>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.2801T>A	11.37:g.70033950T>A	ENSP00000347454:p.Phe934Tyr					ANO1_ENST00000531349.1_Missense_Mutation_p.F643Y|ANO1_ENST00000538023.1_Missense_Mutation_p.F934Y|ANO1_ENST00000530676.1_Missense_Mutation_p.F788Y|ANO1-AS1_ENST00000524987.1_RNA|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000398543.2_Missense_Mutation_p.F788Y	p.F934Y	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			26	3106	+			934					A8KAM3|Q8IYY8|Q8N7V3	Missense_Mutation	SNP	ENST00000355303.5	37	c.2801T>A	CCDS44663.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.641046	0.87859	.	.	ENSG00000131620	ENST00000355303;ENST00000538023;ENST00000398543;ENST00000546327;ENST00000530676;ENST00000531349;ENST00000539321	T;T;T;T;T	0.71698	-0.15;-0.25;-0.59;-0.59;-0.28	4.56	3.38	0.38709	.	0.055505	0.64402	N	0.000001	T	0.72203	0.3431	L	0.29908	0.895	0.47547	D	0.999457	D;D	0.89917	1.0;0.999	D;D	0.73380	0.98;0.968	T	0.67730	-0.5595	9	.	.	.	.	10.1047	0.42526	0.1505:0.0:0.0:0.8495	.	643;934	E9PNA7;Q5XXA6	.;ANO1_HUMAN	Y	934;934;788;692;788;643;261	ENSP00000347454:F934Y;ENSP00000444689:F934Y;ENSP00000381551:F788Y;ENSP00000435797:F788Y;ENSP00000432843:F643Y	.	F	+	2	0	ANO1	69711598	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.966000	0.70395	0.564000	0.29238	0.379000	0.24179	TTC		0.577	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		6	4	0	0	0	0.00116845	0	6	4				
IL27RA	9466	broad.mit.edu	37	19	14163009	14163009	+	Silent	SNP	C	C	A	rs533109463	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:14163009C>A	ENST00000263379.2	+	14	1943	c.1818C>A	c.(1816-1818)acC>acA	p.T606T		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	606					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCCAGGCCACCGCCCCGCTTG	0.662																																					Colon(164;1849 1896 4443 37792 47834)	ENST00000263379.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(1816-1818)acC>acA		interleukin 27 receptor, alpha							24.0	25.0	25.0					19																	14163009		2203	4300	6503	SO:0001819	synonymous_variant	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14163009C>A	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.1818C>A	19.37:g.14163009C>A							p.T606T	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN			14	1943	+			606					A0N0L1|O60624	Silent	SNP	ENST00000263379.2	37	c.1818C>A	CCDS12303.1																																																																																				0.662	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		16	14	1	0	3.52763e-06	0.000566183	9.6929e-06	16	14				
DCAF4L2	138009	broad.mit.edu	37	8	88886016	88886016	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:88886016G>A	ENST00000319675.3	-	1	280	c.184C>T	c.(184-186)Cat>Tat	p.H62Y		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	62										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TCCCAGCTATGAATCTGGACC	0.512																																						ENST00000319675.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(184-186)Cat>Tat		DDB1 and CUL4 associated factor 4-like 2							129.0	119.0	123.0					8																	88886016		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88886016G>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.184C>T	8.37:g.88886016G>A	ENSP00000316496:p.His62Tyr						p.H62Y	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	280	-			62						Missense_Mutation	SNP	ENST00000319675.3	37	c.184C>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	6.232	0.410986	0.11812	.	.	ENSG00000176566	ENST00000319675	T	0.78126	-1.15	1.92	0.997	0.19851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.410508	0.30101	N	0.010409	T	0.49525	0.1562	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37663	-0.9696	10	0.42905	T	0.14	.	4.8635	0.13596	0.2101:0.0:0.7899:0.0	.	62	Q8NA75	DC4L2_HUMAN	Y	62	ENSP00000316496:H62Y	ENSP00000316496:H62Y	H	-	1	0	DCAF4L2	88955132	1.000000	0.71417	0.005000	0.12908	0.018000	0.09664	0.673000	0.25203	-0.061000	0.13110	-0.444000	0.05651	CAT		0.512	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		39	50	0	0	0	0.00148497	0	39	50				
PASD1	139135	broad.mit.edu	37	X	150780162	150780162	+	Silent	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:150780162G>C	ENST00000370357.4	+	4	389	c.144G>C	c.(142-144)ctG>ctC	p.L48L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	48	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TGATTACACTGAGCACAGATG	0.318																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(142-144)ctG>ctC		PAS domain containing 1							261.0	218.0	232.0					X																	150780162		2203	4300	6503	SO:0001819	synonymous_variant	139135					nucleus	signal transducer activity	g.chrX:150780162G>C	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.144G>C	X.37:g.150780162G>C							p.L48L	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			4	389	+	Acute lymphoblastic leukemia(192;6.56e-05)		48			PAS.		Q3MNE0|Q69HD7|Q8N7X9	Silent	SNP	ENST00000370357.4	37	c.144G>C	CCDS35431.1																																																																																				0.318	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		14	75	0	0	0	0.00244969	0	14	75				
PTGER3	5733	broad.mit.edu	37	1	71478100	71478100	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:71478100T>C	ENST00000306666.5	-	2	1175	c.965A>G	c.(964-966)cAg>cGg	p.Q322R	PTGER3_ENST00000370932.2_Missense_Mutation_p.Q322R|PTGER3_ENST00000414819.1_Missense_Mutation_p.Q322R|PTGER3_ENST00000351052.5_Missense_Mutation_p.Q322R|PTGER3_ENST00000460330.1_Missense_Mutation_p.Q322R|PTGER3_ENST00000356595.4_Missense_Mutation_p.Q322R|PTGER3_ENST00000370924.4_Missense_Mutation_p.Q322R|PTGER3_ENST00000354608.5_Missense_Mutation_p.Q322R|PTGER3_ENST00000370931.3_Missense_Mutation_p.Q322R	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	322					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GCATTCTTTCTGCTTCTCCGT	0.398																																						ENST00000370924.4																			0				endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(964-966)cAg>cGg		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)						120.0	113.0	115.0					1																	71478100		2203	4300	6503	SO:0001583	missense	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71478100T>C	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.965A>G	1.37:g.71478100T>C	ENSP00000302313:p.Gln322Arg					PTGER3_ENST00000356595.4_Missense_Mutation_p.Q322R|PTGER3_ENST00000460330.1_Missense_Mutation_p.Q322R|PTGER3_ENST00000370931.3_Missense_Mutation_p.Q322R|PTGER3_ENST00000354608.5_Missense_Mutation_p.Q322R|PTGER3_ENST00000306666.5_Missense_Mutation_p.Q322R|PTGER3_ENST00000414819.1_Missense_Mutation_p.Q322R|PTGER3_ENST00000370932.2_Missense_Mutation_p.Q322R|PTGER3_ENST00000351052.5_Missense_Mutation_p.Q322R	p.Q322R	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN			2	1195	-			322					B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	37	c.965A>G	CCDS657.1	.	.	.	.	.	.	.	.	.	.	T	3.231	-0.157355	0.06544	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.65	1.57	0.23409	GPCR, rhodopsin-like superfamily (1);	1.203760	0.05481	N	0.554835	T	0.23806	0.0576	N	0.03608	-0.345	0.09310	N	1	P;B;P;P;P;B;B;B	0.44344	0.728;0.372;0.692;0.728;0.833;0.321;0.321;0.372	B;B;B;B;B;B;B;B	0.39339	0.167;0.079;0.297;0.167;0.229;0.029;0.047;0.049	T	0.06991	-1.0796	10	0.15499	T	0.54	-6.1741	8.9347	0.35693	0.1139:0.0:0.2422:0.6439	.	322;322;322;322;322;322;322;322	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	R	322	ENSP00000359969:Q322R;ENSP00000359970:Q322R;ENSP00000280208:Q322R;ENSP00000418073:Q322R;ENSP00000346624:Q322R;ENSP00000349003:Q322R;ENSP00000401423:Q322R;ENSP00000302313:Q322R;ENSP00000359962:Q322R	ENSP00000302313:Q322R	Q	-	2	0	PTGER3	71250688	0.557000	0.26546	0.006000	0.13384	0.132000	0.20833	1.328000	0.33758	0.375000	0.24679	0.402000	0.26972	CAG		0.398	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		26	33	0	0	0	0.000720815	0	26	33				
TTN	7273	broad.mit.edu	37	2	179659867	179659867	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:179659867G>T	ENST00000591111.1	-	7	1251	c.1027C>A	c.(1027-1029)Ccc>Acc	p.P343T	TTN_ENST00000589042.1_Missense_Mutation_p.P343T|TTN_ENST00000460472.2_Missense_Mutation_p.P343T|TTN_ENST00000360870.5_Missense_Mutation_p.P343T|TTN_ENST00000359218.5_Missense_Mutation_p.P343T|TTN_ENST00000342175.6_Missense_Mutation_p.P343T|TTN_ENST00000342992.6_Missense_Mutation_p.P343T			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAAGGGGGAGGCACTTCA	0.547																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(1027-1029)Ccc>Acc		titin							101.0	92.0	95.0					2																	179659867		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179659867G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1027C>A	2.37:g.179659867G>T	ENSP00000465570:p.Pro343Thr					TTN_ENST00000342992.6_Missense_Mutation_p.P343T|TTN_ENST00000360870.5_Missense_Mutation_p.P343T|TTN_ENST00000460472.2_Missense_Mutation_p.P343T|TTN_ENST00000342175.6_Missense_Mutation_p.P343T|TTN_ENST00000359218.5_Missense_Mutation_p.P343T|TTN_ENST00000591111.1_Missense_Mutation_p.P343T	p.P343T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		7	1251	-			343					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.1027C>A		.	.	.	.	.	.	.	.	.	.	G	14.74	2.625997	0.46840	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	D;D;D;D;D	0.86562	-2.08;-1.55;-1.63;-1.65;-2.14	6.17	6.17	0.99709	.	.	.	.	.	D	0.93158	0.7821	M	0.61703	1.905	0.46149	D	0.998894	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.997;0.997;0.997;1.0	D	0.92635	0.6119	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	343;343;343;343;343	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	343	ENSP00000343764:P343T;ENSP00000434586:P343T;ENSP00000340554:P343T;ENSP00000352154:P343T;ENSP00000354117:P343T	ENSP00000340554:P343T	P	-	1	0	TTN	179368112	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	9.348000	0.97062	2.941000	0.99782	0.655000	0.94253	CCC		0.547	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		30	46	1	0	1.38854e-25	0.001512	5.05615e-25	30	46				
EYS	346007	broad.mit.edu	37	6	66204788	66204788	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:66204788C>A	ENST00000370621.3	-	4	1042	c.516G>T	c.(514-516)caG>caT	p.Q172H	EYS_ENST00000393380.2_Missense_Mutation_p.Q172H|EYS_ENST00000342421.5_Missense_Mutation_p.Q172H|EYS_ENST00000503581.1_Missense_Mutation_p.Q172H|EYS_ENST00000370618.3_Missense_Mutation_p.Q172H|EYS_ENST00000370616.2_Missense_Mutation_p.Q172H			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	172	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CCTGGCAGAACTGCTGTTTCA	0.453																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(514-516)caG>caT		eyes shut homolog (Drosophila)							69.0	62.0	64.0					6																	66204788		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66204788C>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.516G>T	6.37:g.66204788C>A	ENSP00000359655:p.Gln172His					EYS_ENST00000393380.2_Missense_Mutation_p.Q172H|EYS_ENST00000370621.3_Missense_Mutation_p.Q172H|EYS_ENST00000370618.3_Missense_Mutation_p.Q172H|EYS_ENST00000370616.2_Missense_Mutation_p.Q172H|EYS_ENST00000342421.5_Missense_Mutation_p.Q172H	p.Q172H	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	1053	-			172			EGF-like 1.		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.516G>T		.	.	.	.	.	.	.	.	.	.	C	15.72	2.916708	0.52546	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	4.81	-2.13	0.07144	.	.	.	.	.	T	0.52092	0.1713	N	0.19112	0.55	0.09310	N	0.999999	B;B;B	0.25441	0.01;0.089;0.126	B;B;B	0.24974	0.038;0.057;0.038	T	0.44982	-0.9292	9	0.17832	T	0.49	.	4.2961	0.10902	0.3929:0.369:0.0:0.2381	.	172;172;172	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	H	172	ENSP00000424243:Q172H;ENSP00000359655:Q172H;ENSP00000359650:Q172H;ENSP00000377042:Q172H;ENSP00000341818:Q172H;ENSP00000359652:Q172H	ENSP00000341818:Q172H	Q	-	3	2	EYS	66261509	0.005000	0.15991	0.011000	0.14972	0.998000	0.95712	-1.479000	0.02327	-0.412000	0.07519	0.591000	0.81541	CAG		0.453	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		13	30	1	0	2.68362e-12	0.00136819	8.55047e-12	13	30				
DIRAS3	9077	broad.mit.edu	37	1	68512915	68512915	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:68512915G>A	ENST00000370981.1	-	4	702	c.66C>T	c.(64-66)gcC>gcT	p.A22A	GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.A22A|GNG12-AS1_ENST00000413628.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	22					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGATAAGCAGGGCGGGCAGAA	0.587																																						ENST00000370981.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(64-66)gcC>gcT		DIRAS family, GTP-binding RAS-like 3							30.0	35.0	33.0					1																	68512915		2199	4297	6496	SO:0001819	synonymous_variant	9077				regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:68512915G>A	U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"""ras homolog gene family, member I"""	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.66C>T	1.37:g.68512915G>A						GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.A22A|GNG12-AS1_ENST00000420587.1_RNA	p.A22A			O95661	DIRA3_HUMAN			4	702	-			22					B3KMP3	Silent	SNP	ENST00000370981.1	37	c.66C>T	CCDS641.1																																																																																				0.587	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026354.2	NM_004675		28	38	0	0	0	0.00106085	0	28	38				
C18orf25	147339	broad.mit.edu	37	18	43795987	43795987	+	Silent	SNP	G	G	T	rs190299443		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:43795987G>T	ENST00000282059.6	+	2	515	c.141G>T	c.(139-141)gcG>gcT	p.A47A	C18orf25_ENST00000321319.6_Silent_p.A47A	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	47										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						ATGGTGTAGCGGATTCTACAG	0.458																																						ENST00000282059.6																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						c.(139-141)gcG>gcT		chromosome 18 open reading frame 25							98.0	96.0	97.0					18																	43795987		1911	4126	6037	SO:0001819	synonymous_variant	147339							g.chr18:43795987G>T	AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"""ARKadia-like 1"""					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.141G>T	18.37:g.43795987G>T						C18orf25_ENST00000321319.6_Silent_p.A47A	p.A47A	NM_145055.3	NP_659492.1	Q96B23	CR025_HUMAN			2	515	+			47					A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Silent	SNP	ENST00000282059.6	37	c.141G>T	CCDS42430.1																																																																																				0.458	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	NM_145055		91	25	1	0	6.71967e-41	0.00361006	2.63077e-40	91	25				
AMER1	139285	broad.mit.edu	37	X	63410016	63410016	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:63410016C>T	ENST00000330258.3	-	2	3423	c.3151G>A	c.(3151-3153)Gtg>Atg	p.V1051M	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	1051	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									GGCAGCAGCACATCTCGAGGC	0.612																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(3151-3153)Gtg>Atg		APC membrane recruitment protein 1							27.0	31.0	30.0					X																	63410016		2094	4207	6301	SO:0001583	missense	139285							g.chrX:63410016C>T	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.3151G>A	X.37:g.63410016C>T	ENSP00000329117:p.Val1051Met					AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	p.V1051M	NM_152424.3	NP_689637.3					2	3423	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.3151G>A	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	0.993	-0.693464	0.03303	.	.	ENSG00000184675	ENST00000330258	T	0.46451	0.87	4.72	-2.1	0.07210	.	.	.	.	.	T	0.15609	0.0376	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.20806	-1.0264	8	.	.	.	-1.0939	0.3451	0.00340	0.3481:0.2324:0.1277:0.2918	.	1051	Q5JTC6	F123B_HUMAN	M	1051	ENSP00000329117:V1051M	.	V	-	1	0	FAM123B	63326741	0.000000	0.05858	0.007000	0.13788	0.193000	0.23685	-0.916000	0.04029	-0.367000	0.08052	-1.241000	0.01538	GTG		0.612	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		9	10	0	0	0	0.000274275	0	9	10				
SPTA1	6708	broad.mit.edu	37	1	158655028	158655028	+	Missense_Mutation	SNP	C	C	A	rs374697328		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:158655028C>A	ENST00000368147.4	-	2	314	c.134G>T	c.(133-135)aGg>aTg	p.R45M		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	45			R -> S (in EL2; Clichy). {ECO:0000269|PubMed:2568862}.|R -> T (in EL2; Anastasia). {ECO:0000269|PubMed:7772539}.		actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					cttctgaccccTCTCAGCGAC	0.478																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	GRCh37	CM951193	SPTA1	M		c.(133-135)aGg>aTg		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							117.0	118.0	118.0					1																	158655028		1940	4139	6079	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158655028C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.134G>T	1.37:g.158655028C>A	ENSP00000357129:p.Arg45Met					SPTA1_ENST00000368147.3_Missense_Mutation_p.R45M	p.R45M	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			2	314	-	all_hematologic(112;0.0378)		45		R -> S (in EL2; Clichy).|R -> T (in EL2; Anastasia).			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.134G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548985	0.86127	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50548	0.74;0.74	5.18	5.18	0.71444	.	0.000000	0.35805	N	0.002974	T	0.61299	0.2336	M	0.68593	2.085	0.51767	D	0.999931	D	0.63046	0.992	D	0.68353	0.957	T	0.64170	-0.6470	10	0.87932	D	0	.	17.4478	0.87583	0.0:1.0:0.0:0.0	.	45	P02549	SPTA1_HUMAN	M	45	ENSP00000357130:R45M;ENSP00000357129:R45M	ENSP00000357129:R45M	R	-	2	0	SPTA1	156921652	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.059000	0.76684	2.700000	0.92200	0.467000	0.42956	AGG		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		42	53	1	0	3.43241e-23	0.00222228	1.22747e-22	42	53				
ZNF107	51427	broad.mit.edu	37	7	64168848	64168848	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:64168848T>G	ENST00000395391.1	+	4	3541	c.2166T>G	c.(2164-2166)tgT>tgG	p.C722W	ZNF107_ENST00000423627.1_Missense_Mutation_p.C722W|ZNF107_ENST00000344930.3_Missense_Mutation_p.C722W			Q9UII5	ZN107_HUMAN	zinc finger protein 107	722					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CCTACAAATGTGAAGAATGTG	0.348																																						ENST00000395391.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37						c.(2164-2166)tgT>tgG		zinc finger protein 107							27.0	30.0	29.0					7																	64168848		2200	4295	6495	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64168848T>G	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.2166T>G	7.37:g.64168848T>G	ENSP00000378789:p.Cys722Trp					ZNF107_ENST00000344930.3_Missense_Mutation_p.C722W|ZNF107_ENST00000423627.1_Missense_Mutation_p.C722W	p.C722W			Q9UII5	ZN107_HUMAN			4	3541	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	722						Missense_Mutation	SNP	ENST00000395391.1	37	c.2166T>G	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	16.32	3.090070	0.55968	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	D;D;D	0.85258	-1.96;-1.96;-1.96	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95046	0.8396	H	0.99830	4.82	0.42354	D	0.99238	D	0.89917	1.0	D	0.97110	1.0	D	0.91852	0.5492	8	.	.	.	.	6.2392	0.20780	0.0:0.0:0.0:1.0	.	722	Q9UII5	ZN107_HUMAN	W	722	ENSP00000343443:C722W;ENSP00000400037:C722W;ENSP00000378789:C722W	.	C	+	3	2	ZNF107	63806283	0.004000	0.15560	0.449000	0.26957	0.976000	0.68499	-0.244000	0.08903	0.530000	0.28619	0.260000	0.18958	TGT		0.348	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		10	11	0	0	0	0.000442599	0	10	11				
MAGEC1	9947	broad.mit.edu	37	X	140996136	140996136	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:140996136C>A	ENST00000285879.4	+	4	3232	c.2946C>A	c.(2944-2946)ctC>ctA	p.L982L	MAGEC1_ENST00000406005.2_Silent_p.L49L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	982	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CATTAGACCTCACCTCTGAGG	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2944-2946)ctC>ctA		melanoma antigen family C, 1							117.0	111.0	113.0					X																	140996136		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140996136C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2946C>A	X.37:g.140996136C>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Silent_p.L49L	p.L982L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	3232	+	Acute lymphoblastic leukemia(192;6.56e-05)		982			MAGE.		A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.2946C>A	CCDS35417.1																																																																																				0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		70	127	1	0	2.23852e-25	0.00361006	8.07757e-25	70	127				
COL18A1	80781	broad.mit.edu	37	21	46912603	46912603	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr21:46912603C>A	ENST00000359759.4	+	23	3456	c.3435C>A	c.(3433-3435)ggC>ggA	p.G1145G	COL18A1_ENST00000400337.2_Silent_p.G730G|COL18A1_ENST00000355480.5_Silent_p.G910G			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1145	Triple-helical region 5 (COL5).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TTCCCCAGGGCCGGCCGGGTT	0.701																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(3433-3435)ggC>ggA		collagen, type XVIII, alpha 1							43.0	54.0	51.0					21																	46912603		1979	4143	6122	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46912603C>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3435C>A	21.37:g.46912603C>A						COL18A1_ENST00000355480.5_Silent_p.G910G|COL18A1_ENST00000400337.2_Silent_p.G730G	p.G1145G			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	23	3456	+			1145			Triple-helical region 5 (COL5).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.3435C>A																																																																																					0.701	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			25	48	1	0	7.41945e-09	0.000878237	2.18929e-08	25	48				
OR8B12	219858	broad.mit.edu	37	11	124413188	124413188	+	Silent	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:124413188G>C	ENST00000306842.2	-	1	387	c.363C>G	c.(361-363)cgC>cgG	p.R121R		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TGGCCACGTAGCGGTCATACG	0.507																																						ENST00000306842.2																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(361-363)cgC>cgG		olfactory receptor, family 8, subfamily B, member 12							98.0	86.0	90.0					11																	124413188		2201	4299	6500	SO:0001819	synonymous_variant	219858				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124413188G>C		CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.363C>G	11.37:g.124413188G>C							p.R121R	NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)	1	387	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	121					B2RNF6|Q6IEW8|Q96RC7	Silent	SNP	ENST00000306842.2	37	c.363C>G	CCDS31711.1																																																																																				0.507	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			23	49	0	0	0	0.00332997	0	23	49				
USP10	9100	broad.mit.edu	37	16	84793532	84793532	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:84793532T>G	ENST00000219473.7	+	7	1543	c.1430T>G	c.(1429-1431)gTa>gGa	p.V477G	USP10_ENST00000570191.1_Missense_Mutation_p.V481G	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	477	USP.				autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AATATGCCAGTACCTCCAAAA	0.328																																						ENST00000219473.7																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						c.(1429-1431)gTa>gGa		ubiquitin specific peptidase 10							117.0	108.0	110.0					16																	84793532		1830	4095	5925	SO:0001583	missense	9100				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:84793532T>G	D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"""Ubiquitin-specific peptidases"""	12608	protein-coding gene	gene with protein product		609818	"""ubiquitin specific protease 10"""			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1430T>G	16.37:g.84793532T>G	ENSP00000219473:p.Val477Gly					USP10_ENST00000570191.1_Missense_Mutation_p.V481G	p.V477G	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN			7	1543	+			477					B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Missense_Mutation	SNP	ENST00000219473.7	37	c.1430T>G	CCDS45537.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.676376	0.47886	.	.	ENSG00000103194	ENST00000219473;ENST00000397953	T	0.30182	1.54	5.24	5.24	0.73138	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.551627	0.18991	N	0.125582	T	0.31734	0.0806	L	0.46819	1.47	0.80722	D	1	P;B	0.48230	0.907;0.018	P;B	0.46975	0.533;0.026	T	0.03231	-1.1058	10	0.37606	T	0.19	-10.8927	9.1932	0.37211	0.0:0.0811:0.0:0.9189	.	481;477	Q14694-3;Q14694	.;UBP10_HUMAN	G	477;39	ENSP00000219473:V477G	ENSP00000219473:V477G	V	+	2	0	USP10	83351033	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.612000	0.67681	2.108000	0.64289	0.533000	0.62120	GTA		0.328	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433660.1			27	18	0	0	0	0.00178596	0	27	18				
MICB	4277	broad.mit.edu	37	6	31477636	31477636	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:31477636C>G	ENST00000252229.6	+	6	1181	c.1102C>G	c.(1102-1104)Cag>Gag	p.Q368E	MICB_ENST00000399150.3_Missense_Mutation_p.Q325E|MICB_ENST00000538442.1_Missense_Mutation_p.Q336E	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GCTGGGATTTCAGCCTCTGAT	0.577																																						ENST00000252229.6																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						c.(1102-1104)Cag>Gag		MHC class I polypeptide-related sequence B							103.0	108.0	107.0					6																	31477636		1286	2583	3869	SO:0001583	missense	4277				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31477636C>G		CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.1102C>G	6.37:g.31477636C>G	ENSP00000252229:p.Gln368Glu					MICB_ENST00000538442.1_Missense_Mutation_p.Q336E|MICB_ENST00000399150.3_Missense_Mutation_p.Q325E	p.Q368E	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN			6	1181	+			368						Missense_Mutation	SNP	ENST00000252229.6	37	c.1102C>G	CCDS43449.1	.	.	.	.	.	.	.	.	.	.	N	11.04	1.522244	0.27211	.	.	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.00958	5.5;5.52;5.61	0.865	0.865	0.19074	.	.	.	.	.	T	0.00815	0.0027	L	0.32530	0.975	0.09310	N	1	P;D;P	0.54964	0.811;0.969;0.865	P;D;P	0.64877	0.83;0.93;0.759	T	0.55673	-0.8104	9	0.87932	D	0	.	5.0473	0.14490	0.0:1.0:0.0:0.0	.	336;325;368	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	E	336;325;368	ENSP00000442345:Q336E;ENSP00000382103:Q325E;ENSP00000252229:Q368E	ENSP00000252229:Q368E	Q	+	1	0	MICB	31585615	0.003000	0.15002	0.033000	0.17914	0.075000	0.17131	-0.176000	0.09811	0.759000	0.33084	0.313000	0.20887	CAG		0.577	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931		68	55	0	0	0	0.00361006	0	68	55				
LYPD2	137797	broad.mit.edu	37	8	143832542	143832542	+	Silent	SNP	C	C	A	rs372803897		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:143832542C>A	ENST00000359228.3	-	2	187	c.105G>T	c.(103-105)tcG>tcT	p.S35S		NM_205545.1	NP_991108.1	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2	35	UPAR/Ly6.					anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGACACAGTCCGACACTCCTG	0.652																																						ENST00000359228.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						c.(103-105)tcG>tcT		LY6/PLAUR domain containing 2							223.0	177.0	193.0					8																	143832542		2203	4300	6503	SO:0001819	synonymous_variant	137797					anchored to membrane|plasma membrane		g.chr8:143832542C>A	AY358432	CCDS6388.1	8q24.3	2005-08-30		2005-08-30	ENSG00000197353	ENSG00000197353			25215	protein-coding gene	gene with protein product				LYPDC2		12975309	Standard	NM_205545		Approved	RGTR430, UNQ430	uc003ywz.3	Q6UXB3	OTTHUMG00000164686	ENST00000359228.3:c.105G>T	8.37:g.143832542C>A							p.S35S	NM_205545.1	NP_991108.1	Q6UXB3	LYPD2_HUMAN			2	187	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		35			UPAR/Ly6.		A8K2R6|Q0VD64|Q0VF31	Silent	SNP	ENST00000359228.3	37	c.105G>T	CCDS6388.1																																																																																				0.652	LYPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379742.1	NM_205545		46	61	1	0	1.23713e-20	0.00361006	4.30837e-20	46	61				
PEG3	5178	broad.mit.edu	37	19	57335999	57335999	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:57335999C>T	ENST00000326441.9	-	4	388	c.25G>A	c.(25-27)Gcc>Acc	p.A9T	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.A9T|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000593931.1_5'Flank|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	9					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.A9S(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTTTGGTGGCAGACAAGTGC	0.488																																						ENST00000326441.9																			2	Substitution - Missense(2)	p.A9S(2)	upper_aerodigestive_tract(2)	NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(25-27)Gcc>Acc		paternally expressed 3							59.0	64.0	62.0					19																	57335999		2203	4299	6502	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57335999C>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.25G>A	19.37:g.57335999C>T	ENSP00000326581:p.Ala9Thr					ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000594706.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.A9T|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000391708.3_Intron	p.A9T	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	4	388	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	9					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.25G>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345826	0.41599	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02890	4.12;4.12	4.66	-2.01	0.07410	.	0.864416	0.09648	N	0.774039	T	0.01870	0.0059	N	0.24115	0.695	.	.	.	B	0.06786	0.001	B	0.06405	0.002	T	0.47560	-0.9108	8	.	.	.	-5.5414	3.9716	0.09455	0.1623:0.387:0.0:0.4507	.	9	Q9GZU2	PEG3_HUMAN	T	9	ENSP00000326581:A9T;ENSP00000403051:A9T	.	A	-	1	0	ZIM2	62027811	0.000000	0.05858	0.002000	0.10522	0.924000	0.55760	-0.545000	0.06069	-0.331000	0.08501	0.655000	0.94253	GCC		0.488	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			18	58	0	0	0	0.000566183	0	18	58				
SRGAP1	57522	broad.mit.edu	37	12	64472740	64472740	+	Silent	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:64472740T>C	ENST00000355086.3	+	9	1691	c.1167T>C	c.(1165-1167)gaT>gaC	p.D389D	SRGAP1_ENST00000543397.1_Silent_p.D349D|SRGAP1_ENST00000357825.3_Silent_p.D389D|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	389	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CGATACAAGATATGGTCACCA	0.423																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1165-1167)gaT>gaC		SLIT-ROBO Rho GTPase activating protein 1							113.0	91.0	98.0					12																	64472740		2203	4300	6503	SO:0001819	synonymous_variant	57522				axon guidance	cytosol		g.chr12:64472740T>C	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1167T>C	12.37:g.64472740T>C						SRGAP1_ENST00000543397.1_Silent_p.D349D|SRGAP1_ENST00000357825.3_Silent_p.D389D|RP11-196H14.2_ENST00000535594.1_RNA	p.D389D	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	9	1691	+			389					Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	c.1167T>C	CCDS8967.1																																																																																				0.423	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			39	12	0	0	0	0.00111076	0	39	12				
IRS4	8471	broad.mit.edu	37	X	107977346	107977346	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:107977346G>C	ENST00000372129.2	-	1	2305	c.2229C>G	c.(2227-2229)taC>taG	p.Y743*	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	743	CRK-binding.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						ACATCATCATGTACCCTCTTG	0.458																																						ENST00000372129.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(2227-2229)taC>taG		insulin receptor substrate 4							83.0	84.0	84.0					X																	107977346		2203	4300	6503	SO:0001587	stop_gained	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107977346G>C	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2229C>G	X.37:g.107977346G>C	ENSP00000361202:p.Tyr743*						p.Y743*	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN			1	2305	-			743			CRK-binding.			Nonsense_Mutation	SNP	ENST00000372129.2	37	c.2229C>G	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	38	6.945223	0.97952	.	.	ENSG00000133124	ENST00000372129	.	.	.	5.33	4.47	0.54385	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9635	7.718	0.28715	0.2706:0.0:0.7294:0.0	.	.	.	.	X	743	.	ENSP00000361202:Y743X	Y	-	3	2	IRS4	107864002	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.218000	0.42889	1.212000	0.43366	-0.208000	0.12717	TAC		0.458	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		50	88	0	0	0	0.00361006	0	50	88				
KHK	3795	broad.mit.edu	37	2	27322328	27322328	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:27322328G>T	ENST00000260599.6	+	7	1207	c.694G>T	c.(694-696)Gcc>Tcc	p.A232S	KHK_ENST00000260598.5_Missense_Mutation_p.A232S|CGREF1_ENST00000402550.1_3'UTR|KHK_ENST00000490823.1_3'UTR|CGREF1_ENST00000452318.2_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	232					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)	p.A232S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCGCCGACGCCCTGGGCCC	0.652																																						ENST00000260599.6																			2	Substitution - Missense(2)	p.A232S(2)	lung(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						c.(694-696)Gcc>Tcc		ketohexokinase (fructokinase)							67.0	69.0	68.0					2																	27322328		2203	4300	6503	SO:0001583	missense	3795				fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding	g.chr2:27322328G>T		CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.694G>T	2.37:g.27322328G>T	ENSP00000260599:p.Ala232Ser					CGREF1_ENST00000402550.1_3'UTR|CGREF1_ENST00000452318.2_3'UTR|KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.A232S	p.A232S	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN			7	1207	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		232					Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	37	c.694G>T	CCDS1734.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997530	0.93227	.	.	ENSG00000138030	ENST00000260599;ENST00000260598;ENST00000429697	T;T;T	0.78595	-1.19;-1.19;-0.44	5.29	5.29	0.74685	Carbohydrate/purine kinase (1);	0.000000	0.85682	D	0.000000	D	0.88901	0.6563	M	0.84511	2.7	0.80722	D	1	P;D;P;D	0.89917	0.906;1.0;0.895;1.0	P;D;D;D	0.97110	0.902;1.0;0.909;1.0	D	0.88987	0.3412	10	0.42905	T	0.14	-5.0537	16.4334	0.83861	0.0:0.0:1.0:0.0	.	232;232;232;232	Q53G56;Q6IBK2;P50053-2;P50053	.;.;.;KHK_HUMAN	S	232;232;277	ENSP00000260599:A232S;ENSP00000260598:A232S;ENSP00000404741:A277S	ENSP00000260598:A232S	A	+	1	0	KHK	27175832	1.000000	0.71417	0.951000	0.38953	0.623000	0.37688	9.466000	0.97665	2.469000	0.83416	0.555000	0.69702	GCC		0.652	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1			17	70	1	0	1.56452e-12	0.000958276	5.0115e-12	17	70				
OPRD1	4985	broad.mit.edu	37	1	29185538	29185538	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:29185538C>G	ENST00000234961.2	+	2	542	c.300C>G	c.(298-300)agC>agG	p.S100R		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	100					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TGGCCACCAGCACGCTGCCTT	0.507																																						ENST00000234961.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(298-300)agC>agG		opioid receptor, delta 1	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)						126.0	120.0	122.0					1																	29185538		2203	4300	6503	SO:0001583	missense	4985				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding	g.chr1:29185538C>G	U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.300C>G	1.37:g.29185538C>G	ENSP00000234961:p.Ser100Arg						p.S100R	NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	2	542	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	100					B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	c.300C>G	CCDS329.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322901	0.81580	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.39592	1.07	4.46	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65903	0.2736	M	0.87038	2.855	0.80722	D	1	P	0.41366	0.747	P	0.57009	0.811	T	0.72023	-0.4415	10	0.72032	D	0.01	.	14.6367	0.68694	0.0:1.0:0.0:0.0	.	100	P41143	OPRD_HUMAN	R	100	ENSP00000234961:S100R	ENSP00000234961:S100R	S	+	3	2	OPRD1	29058125	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.706000	0.54830	2.315000	0.78130	0.462000	0.41574	AGC		0.507	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911		41	85	0	0	0	0.00170553	0	41	85				
HPSE2	60495	broad.mit.edu	37	10	100481443	100481443	+	Silent	SNP	C	C	A	rs200916817		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:100481443C>A	ENST00000370552.3	-	5	986	c.927G>T	c.(925-927)ccG>ccT	p.P309P	HPSE2_ENST00000370549.1_Silent_p.P251P|HPSE2_ENST00000370546.1_Silent_p.P309P|HPSE2_ENST00000404542.1_Silent_p.P197P	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	309					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CATTCTTCCTCGGCCGCCCAA	0.438																																						ENST00000370552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(925-927)ccG>ccT		heparanase 2							55.0	54.0	54.0					10																	100481443		2203	4300	6503	SO:0001819	synonymous_variant	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100481443C>A	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.927G>T	10.37:g.100481443C>A						HPSE2_ENST00000370546.1_Silent_p.P309P|HPSE2_ENST00000370549.1_Silent_p.P251P|HPSE2_ENST00000404542.1_Silent_p.P197P	p.P309P	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	5	986	-			309					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Silent	SNP	ENST00000370552.3	37	c.927G>T	CCDS7477.1																																																																																				0.438	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		14	31	1	0	0.000151284	0.00185496	0.000400086	14	31				
PCSK7	9159	broad.mit.edu	37	11	117093951	117093951	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:117093951A>C	ENST00000320934.3	-	9	1758	c.1128T>G	c.(1126-1128)agT>agG	p.S376R	PCSK7_ENST00000540028.1_Missense_Mutation_p.S17R	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	376	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TGTCCCCACCACTGAAGGTGA	0.577			T	IGH@	MLCLS																																	ENST00000320934.3				Dom	yes		11	11q23.3	9159	T	proprotein convertase subtilisin/kexin type 7			L	IGH@		MLCLS		0				NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16						c.(1126-1128)agT>agG		proprotein convertase subtilisin/kexin type 7							113.0	97.0	103.0					11																	117093951		2201	4296	6497	SO:0001583	missense	9159				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity	g.chr11:117093951A>C	U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.1128T>G	11.37:g.117093951A>C	ENSP00000325917:p.Ser376Arg					PCSK7_ENST00000540028.1_Missense_Mutation_p.S17R	p.S376R	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)	9	1758	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	376			Catalytic.		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	ENST00000320934.3	37	c.1128T>G	CCDS8382.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.381060	0.82792	.	.	ENSG00000160613	ENST00000320934;ENST00000540028;ENST00000543900	D;D	0.87887	-2.31;-2.31	5.33	-6.83	0.01693	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.037685	0.85682	N	0.000000	D	0.93556	0.7943	H	0.95470	3.675	0.50313	D	0.999868	D	0.89917	1.0	D	0.85130	0.997	D	0.92794	0.6251	10	0.87932	D	0	-18.6106	12.9127	0.58189	0.2892:0.1073:0.6035:0.0	.	376	Q16549	PCSK7_HUMAN	R	376;17;376	ENSP00000325917:S376R;ENSP00000441944:S17R	ENSP00000325917:S376R	S	-	3	2	PCSK7	116599161	0.994000	0.37717	0.353000	0.25747	0.996000	0.88848	0.342000	0.19926	-1.602000	0.01599	-0.250000	0.11733	AGT		0.577	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385529.2	NM_004716		42	57	0	0	0	0.0025221	0	42	57				
NDN	4692	broad.mit.edu	37	15	23931741	23931741	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:23931741G>C	ENST00000331837.4	-	1	709	c.624C>G	c.(622-624)agC>agG	p.S208R		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	208	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TCCAGACGGCGCTCTCTCTGG	0.637									Prader-Willi syndrome																													ENST00000331837.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(622-624)agC>agG		necdin, melanoma antigen (MAGE) family member							26.0	26.0	26.0					15																	23931741		2200	4295	6495	SO:0001583	missense	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931741G>C	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.624C>G	15.37:g.23931741G>C	ENSP00000332643:p.Ser208Arg						p.S208R	NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	709	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	208			MAGE.		B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.624C>G	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059580	0.55325	.	.	ENSG00000182636	ENST00000331837	T	0.05025	3.51	3.22	-2.42	0.06542	.	0.509243	0.21276	N	0.077228	T	0.09335	0.0230	L	0.38175	1.15	0.27293	N	0.957788	P	0.43788	0.817	P	0.54856	0.762	T	0.09796	-1.0658	10	0.72032	D	0.01	.	7.8533	0.29468	0.6423:0.0:0.3577:0.0	.	208	Q99608	NECD_HUMAN	R	208	ENSP00000332643:S208R	ENSP00000332643:S208R	S	-	3	2	NDN	21482834	0.017000	0.18338	0.726000	0.30738	0.918000	0.54935	-1.264000	0.02847	-0.551000	0.06175	0.561000	0.74099	AGC		0.637	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		19	27	0	0	0	0.00121646	0	19	27				
SPHKAP	80309	broad.mit.edu	37	2	228884716	228884716	+	Missense_Mutation	SNP	C	C	G	rs145402025		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:228884716C>G	ENST00000392056.3	-	7	900	c.854G>C	c.(853-855)cGa>cCa	p.R285P	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R285P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	285						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCTGGAGATCGTTCTGTTTT	0.443																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(853-855)cGa>cCa		SPHK1 interactor, AKAP domain containing							245.0	257.0	253.0					2																	228884716		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228884716C>G		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.854G>C	2.37:g.228884716C>G	ENSP00000375909:p.Arg285Pro					SPHKAP_ENST00000344657.5_Missense_Mutation_p.R285P	p.R285P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	900	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	285					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.854G>C	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	c	1.952	-0.441073	0.04636	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12465	2.68;2.69	5.6	-0.387	0.12463	.	1.853230	0.02265	N	0.067918	T	0.11110	0.0271	L	0.34521	1.04	0.09310	N	1	P;P	0.43607	0.811;0.812	B;B	0.39419	0.231;0.299	T	0.21143	-1.0254	10	0.30854	T	0.27	.	5.2285	0.15408	0.0:0.3567:0.1517:0.4916	.	285;285	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	P	285	ENSP00000375909:R285P;ENSP00000339886:R285P	ENSP00000339886:R285P	R	-	2	0	SPHKAP	228592960	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.112000	0.10791	-0.145000	0.11294	-0.127000	0.14921	CGA		0.443	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		73	137	0	0	0	0.00361006	0	73	137				
OR9G4	283189	broad.mit.edu	37	11	56511027	56511027	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:56511027C>A	ENST00000302957.3	-	1	260	c.261G>T	c.(259-261)tgG>tgT	p.W87C		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CAGAGGTATACCAGAAATCCA	0.433																																						ENST00000302957.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(259-261)tgG>tgT		olfactory receptor, family 9, subfamily G, member 4							93.0	97.0	96.0					11																	56511027		2201	4296	6497	SO:0001583	missense	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56511027C>A	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.261G>T	11.37:g.56511027C>A	ENSP00000307515:p.Trp87Cys						p.W87C	NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN			1	260	-			87					Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	c.261G>T	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	C	3.538	-0.094277	0.07053	.	.	ENSG00000172457	ENST00000302957	T	0.00525	6.81	5.3	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.207047	0.24580	N	0.037301	T	0.00468	0.0015	N	0.02751	-0.505	0.54753	D	0.999984	D	0.89917	1.0	D	0.85130	0.997	T	0.78303	-0.2256	10	0.02654	T	1	-9.1634	13.9701	0.64235	0.0:0.711:0.289:0.0	.	87	Q8NGQ1	OR9G4_HUMAN	C	87	ENSP00000307515:W87C	ENSP00000307515:W87C	W	-	3	0	OR9G4	56267603	0.713000	0.27926	1.000000	0.80357	0.985000	0.73830	1.108000	0.31123	1.421000	0.47157	0.643000	0.83706	TGG		0.433	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		34	63	1	0	6.90743e-12	0.00375469	2.1834e-11	34	63				
KLHL34	257240	broad.mit.edu	37	X	21674749	21674749	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:21674749G>A	ENST00000379499.2	-	1	1699	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	386						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CCCGCGAGTCGTCGGCCAGGG	0.682																																						ENST00000379499.2																			0				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(1156-1158)gaC>gaT		kelch-like family member 34							24.0	17.0	19.0					X																	21674749		2195	4281	6476	SO:0001819	synonymous_variant	257240							g.chrX:21674749G>A	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.1158C>T	X.37:g.21674749G>A							p.D386D	NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN			1	1699	-			386						Silent	SNP	ENST00000379499.2	37	c.1158C>T	CCDS14199.1																																																																																				0.682	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270		10	6	0	0	0	0.000978159	0	10	6				
HMGB4	127540	broad.mit.edu	37	1	34329945	34329945	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:34329945C>A	ENST00000522796.1	+	4	2058	c.153C>A	c.(151-153)tcC>tcA	p.S51S	HMGB4_ENST00000519684.1_Silent_p.S51S|CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR			Q8WW32	HMGB4_HUMAN	high mobility group box 4	51						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AATGGAGATCCATCTCAAAGC	0.403																																						ENST00000522796.1																			0				NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(151-153)tcC>tcA		high mobility group box 4							112.0	124.0	120.0					1																	34329945		2203	4300	6503	SO:0001819	synonymous_variant	127540					nucleus	DNA binding	g.chr1:34329945C>A		CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"""High-mobility group / Canonical"""	24954	protein-coding gene	gene with protein product			"""high-mobility group box 4"""				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.153C>A	1.37:g.34329945C>A						HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_Silent_p.S51S	p.S51S			B2R4X7	B2R4X7_HUMAN			4	2058	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	51					B2R4X7|Q0QWA4	Silent	SNP	ENST00000522796.1	37	c.153C>A	CCDS30668.1																																																																																				0.403	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375773.1	NM_145205		48	84	1	0	1.61863e-15	0.00361006	5.41652e-15	48	84				
IGKV1D-43	28891	broad.mit.edu	37	2	90249169	90249169	+	RNA	SNP	C	C	A	rs566804001		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:90249169C>A	ENST00000468879.1	+	0	306									immunoglobulin kappa variable 1D-43																		GACAGAGTCACCATCACTTGC	0.473																																						ENST00000468879.1																			0																				140.0	141.0	141.0					2																	90249169		1905	4143	6048			28891							g.chr2:90249169C>A	X72817		2p11.2	2012-10-03			ENSG00000242580	ENSG00000242580		"""Immunoglobulins / IGK locus"""	5758	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151572		2.37:g.90249169C>A														0	306	+									RNA	SNP	ENST00000468879.1	37																																																																																						0.473	IGKV1D-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323147.2	NG_000833		85	125	1	0	9.11151e-29	0.00361006	3.38994e-28	85	125				
ANO7	50636	broad.mit.edu	37	2	242135326	242135326	+	Intron	SNP	C	C	T	rs559274730		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:242135326C>T	ENST00000274979.8	+	4	574				ANO7_ENST00000402530.3_Silent_p.A178A|ANO7_ENST00000402430.3_Intron	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7						calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						ATGACCTTGCCGCATGAGGCC	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18606	0.0		0.0	False		,,,				2504	0.0					ENST00000402530.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(532-534)gcC>gcT		anoctamin 7							62.0	59.0	61.0					2																	242135326		1327	2309	3636	SO:0001627	intron_variant	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242135326C>T	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.471+66C>T	2.37:g.242135326C>T						ANO7_ENST00000402430.3_Intron|ANO7_ENST00000274979.8_Intron	p.A178A	NM_001001666.3	NP_001001666.1	Q6IWH7	ANO7_HUMAN			4	637	+			0					Q6IWH6	Silent	SNP	ENST00000274979.8	37	c.534C>T	CCDS33423.1																																																																																				0.627	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		15	24	0	0	0	0.00244969	0	15	24				
TAS2R13	50838	broad.mit.edu	37	12	11061579	11061579	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:11061579A>G	ENST00000390677.2	-	1	582	c.319T>C	c.(319-321)Tat>Cat	p.Y107H	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	107					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TTGAGCAAATAAAAGATGCTG	0.368																																						ENST00000390677.2																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						c.(319-321)Tat>Cat		taste receptor, type 2, member 13							59.0	64.0	62.0					12																	11061579		2201	4300	6501	SO:0001583	missense	50838				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:11061579A>G	AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.319T>C	12.37:g.11061579A>G	ENSP00000375095:p.Tyr107His					PRR4_ENST00000536668.1_Intron	p.Y107H	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN			1	582	-			107					Q4G0I5|Q502V8|Q645X2	Missense_Mutation	SNP	ENST00000390677.2	37	c.319T>C	CCDS8635.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.239066	0.58995	.	.	ENSG00000212128	ENST00000390677	T	0.37058	1.22	3.3	3.3	0.37823	.	0.000000	0.56097	U	0.000022	T	0.62048	0.2396	M	0.90082	3.085	0.29271	N	0.8707	D	0.89917	1.0	D	0.97110	1.0	T	0.60752	-0.7201	10	0.72032	D	0.01	.	8.228	0.31582	1.0:0.0:0.0:0.0	.	107	Q9NYV9	T2R13_HUMAN	H	107	ENSP00000375095:Y107H	ENSP00000375095:Y107H	Y	-	1	0	TAS2R13	10952846	0.997000	0.39634	0.959000	0.39883	0.992000	0.81027	2.737000	0.47393	1.479000	0.48272	0.533000	0.62120	TAT		0.368	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400229.1			77	33	0	0	0	0.00361006	0	77	33				
STK32B	55351	broad.mit.edu	37	4	5458560	5458560	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:5458560G>A	ENST00000282908.5	+	8	1115	c.693G>A	c.(691-693)acG>acA	p.T231T	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Silent_p.T154T|STK32B_ENST00000510398.1_Silent_p.T184T|RN7SKP275_ENST00000364626.1_RNA	NM_018401.1	NP_060871.1			serine/threonine kinase 32B											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						ACTCGGTCACGCCCATCGATG	0.532																																						ENST00000282908.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						c.(691-693)acG>acA		serine/threonine kinase 32B							105.0	82.0	90.0					4																	5458560		2203	4300	6503	SO:0001819	synonymous_variant	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5458560G>A	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.693G>A	4.37:g.5458560G>A						STK32B_ENST00000510398.1_Silent_p.T184T|STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Silent_p.T154T	p.T231T	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN			8	1115	+			231			Protein kinase.			Silent	SNP	ENST00000282908.5	37	c.693G>A	CCDS3380.1																																																																																				0.532	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		10	6	0	0	0	0.000442599	0	10	6				
ZIM3	114026	broad.mit.edu	37	19	57647112	57647112	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:57647112T>C	ENST00000269834.1	-	5	978	c.593A>G	c.(592-594)cAt>cGt	p.H198R	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCACAGCTATGACATTCAAA	0.438																																						ENST00000269834.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(592-594)cAt>cGt		zinc finger, imprinted 3							162.0	156.0	158.0					19																	57647112		2203	4300	6503	SO:0001583	missense	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57647112T>C	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.593A>G	19.37:g.57647112T>C	ENSP00000269834:p.His198Arg						p.H198R	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	978	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	198					Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.593A>G	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.880040	0.00537	.	.	ENSG00000141946	ENST00000269834	T	0.12984	2.63	2.08	-4.17	0.03857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07369	0.0186	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30001	-0.9993	9	0.25751	T	0.34	.	8.0035	0.30310	0.0:0.1896:0.5144:0.296	.	198	Q96PE6	ZIM3_HUMAN	R	198	ENSP00000269834:H198R	ENSP00000269834:H198R	H	-	2	0	ZIM3	62338924	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.338000	0.00130	-2.923000	0.00303	-2.349000	0.00243	CAT		0.438	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			68	69	0	0	0	0.00361006	0	68	69				
SPECC1	92521	broad.mit.edu	37	17	20224898	20224898	+	IGR	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:20224898C>T	ENST00000395530.2	+	0	8133				U6_ENST00000517027.1_RNA|CCDC144CP_ENST00000340196.4_RNA|AC004702.2_ENST00000580225.1_lincRNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1						cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GCTGCCCGGTCGGGCGACGTC	0.642																																						ENST00000580225.1																			0																																																	SO:0001628	intergenic_variant	348254							g.chr17:20224898C>T	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808		17.37:g.20224898C>T						CCDC144CP_ENST00000340196.4_RNA								0	105	+								B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	RNA	SNP	ENST00000395530.2	37		CCDS42281.1	.	.	.	.	.	.	.	.	.	.	.	0.366	-0.936709	0.02340	.	.	ENSG00000154898	ENST00000340196;ENST00000425519	.	.	.	0.43	-0.86	0.10680	.	.	.	.	.	T	0.14743	0.0356	.	.	.	0.20873	N	0.999837	.	.	.	.	.	.	T	0.27331	-1.0077	3	0.14656	T	0.56	.	.	.	.	.	.	.	.	L	90	.	ENSP00000343605:S90L	S	+	2	0	CCDC144C	20165490	0.342000	0.24809	0.000000	0.03702	0.000000	0.00434	-3.607000	0.00416	-1.685000	0.01441	-1.692000	0.00727	TCG		0.642	SPECC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132368.3	NM_152904		91	79	0	0	0	0.00361006	0	91	79				
LRP1B	53353	broad.mit.edu	37	2	141816540	141816540	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:141816540G>T	ENST00000389484.3	-	9	2291	c.1320C>A	c.(1318-1320)aaC>aaA	p.N440K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	440					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTAAATCGGTTTATCCTTA	0.323										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(1318-1320)aaC>aaA		low density lipoprotein receptor-related protein 1B							103.0	106.0	105.0					2																	141816540		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141816540G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1320C>A	2.37:g.141816540G>T	ENSP00000374135:p.Asn440Lys	TSP Lung(27;0.18)					p.N440K	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	9	2291	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	440					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1320C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035691	0.54896	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.92048	-2.96	5.7	-2.12	0.07165	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.064018	0.64402	U	0.000013	D	0.89438	0.6715	M	0.83603	2.65	0.36270	D	0.855142	P	0.39665	0.682	B	0.32980	0.156	D	0.84781	0.0773	10	0.72032	D	0.01	.	11.3633	0.49657	0.4513:0.0:0.5487:0.0	.	440	Q9NZR2	LRP1B_HUMAN	K	440;378	ENSP00000374135:N440K	ENSP00000374135:N440K	N	-	3	2	LRP1B	141533010	1.000000	0.71417	0.894000	0.35097	0.886000	0.51366	0.719000	0.25881	-0.819000	0.04323	0.462000	0.41574	AAC		0.323	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		23	58	1	0	1.55795e-14	0.00188189	5.09951e-14	23	58				
SHROOM3	57619	broad.mit.edu	37	4	77660612	77660612	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:77660612A>G	ENST00000296043.6	+	5	2239	c.1286A>G	c.(1285-1287)gAg>gGg	p.E429G		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	429					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCATTCATAGAGGAGCAGCTG	0.577																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(1285-1287)gAg>gGg		shroom family member 3							49.0	54.0	52.0					4																	77660612		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77660612A>G	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1286A>G	4.37:g.77660612A>G	ENSP00000296043:p.Glu429Gly						p.E429G	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	2239	+			429					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.1286A>G	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	A	15.72	2.917026	0.52546	.	.	ENSG00000138771	ENST00000296043	T	0.47528	0.84	5.67	5.67	0.87782	.	0.187217	0.37393	N	0.002118	T	0.67078	0.2855	M	0.69823	2.125	0.49798	D	0.999829	D;D;D	0.89917	1.0;0.995;0.995	D;P;P	0.71184	0.972;0.862;0.862	T	0.70970	-0.4727	10	0.87932	D	0	-17.0094	14.4923	0.67660	1.0:0.0:0.0:0.0	.	253;429;207	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	G	429	ENSP00000296043:E429G	ENSP00000296043:E429G	E	+	2	0	SHROOM3	77879636	1.000000	0.71417	0.980000	0.43619	0.046000	0.14306	8.227000	0.89787	2.155000	0.67459	0.460000	0.39030	GAG		0.577	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		21	47	0	0	0	0.00188189	0	21	47				
PROSC	11212	broad.mit.edu	37	8	37623867	37623867	+	Silent	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:37623867T>C	ENST00000328195.3	+	4	380	c.313T>C	c.(313-315)Ttg>Ctg	p.L105L		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	105					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	TGTCAACAAATTGATGGGTAA	0.363																																						ENST00000328195.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7						c.(313-315)Ttg>Ctg		proline synthetase co-transcribed homolog (bacterial)	L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)						134.0	138.0	136.0					8																	37623867		2203	4300	6503	SO:0001819	synonymous_variant	11212						pyridoxal phosphate binding	g.chr8:37623867T>C	AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"""proline synthetase co-transcribed (bacterial homolog)"""				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.313T>C	8.37:g.37623867T>C							p.L105L	NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		4	380	+		Lung NSC(58;0.174)	105					Q6FI94	Silent	SNP	ENST00000328195.3	37	c.313T>C	CCDS6096.1																																																																																				0.363	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376796.1	NM_007198		53	65	0	0	0	0.00361006	0	53	65				
RLIM	51132	broad.mit.edu	37	X	73811496	73811496	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:73811496G>T	ENST00000332687.6	-	4	1872	c.1654C>A	c.(1654-1656)Cag>Aag	p.Q552K	RLIM_ENST00000349225.2_Missense_Mutation_p.Q552K	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	552					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGTCAATCTGTTCTTTGGTG	0.393																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1654-1656)Cag>Aag		ring finger protein, LIM domain interacting							74.0	58.0	64.0					X																	73811496		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811496G>T	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1654C>A	X.37:g.73811496G>T	ENSP00000328059:p.Gln552Lys					RLIM_ENST00000349225.2_Missense_Mutation_p.Q552K	p.Q552K	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1872	-			552					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.1654C>A	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560427	0.65538	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.08984	3.03;3.03	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.29749	0.0743	M	0.70595	2.14	0.80722	D	1	D	0.65815	0.995	D	0.71870	0.975	T	0.01397	-1.1365	10	0.62326	D	0.03	-2.2143	18.3592	0.90370	0.0:0.0:1.0:0.0	.	552	Q9NVW2	RNF12_HUMAN	K	552	ENSP00000328059:Q552K;ENSP00000253571:Q552K	ENSP00000328059:Q552K	Q	-	1	0	RLIM	73728221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	2.275000	0.75901	0.600000	0.82982	CAG		0.393	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		19	32	1	0	7.07596e-05	0.00074312	0.000188378	19	32				
WDR44	54521	broad.mit.edu	37	X	117527102	117527102	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:117527102G>A	ENST00000254029.3	+	4	1089	c.694G>A	c.(694-696)Gtt>Att	p.V232I	WDR44_ENST00000371825.3_Missense_Mutation_p.V232I|WDR44_ENST00000371822.5_Missense_Mutation_p.V207I|WDR44_ENST00000493448.1_3'UTR	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	232	Pro-rich.					endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AAAGAAGCCTGTTCCAGCACG	0.517																																						ENST00000254029.3																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(694-696)Gtt>Att		WD repeat domain 44							115.0	105.0	108.0					X																	117527102		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117527102G>A	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.694G>A	X.37:g.117527102G>A	ENSP00000254029:p.Val232Ile					WDR44_ENST00000371822.5_Missense_Mutation_p.V207I|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.V232I	p.V232I	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN			4	1089	+			232			Pro-rich.		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.694G>A	CCDS14572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.56|13.56	2.272248|2.272248	0.40194|0.40194	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371848|ENST00000371822;ENST00000254029;ENST00000371825	.|T;T;T	.|0.73258	.|-0.73;-0.15;-0.02	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.125660	.|0.56097	.|D	.|0.000036	T|T	0.53045|0.53045	0.1772|0.1772	N|N	0.14661|0.14661	0.345|0.345	0.25274|0.25274	N|N	0.989492|0.989492	.|B;B;B	.|0.26935	.|0.164;0.138;0.083	.|B;B;B	.|0.22753	.|0.041;0.029;0.018	T|T	0.40059|0.40059	-0.9583|-0.9583	5|10	.|0.22706	.|T	.|0.39	-15.5254|-15.5254	14.7428|14.7428	0.69469|0.69469	0.0:0.1411:0.8589:0.0|0.0:0.1411:0.8589:0.0	.|.	.|207;232;232	.|F8W913;Q5JSH3-2;Q5JSH3	.|.;.;WDR44_HUMAN	Y|I	131|207;232;232	.|ENSP00000360887:V207I;ENSP00000254029:V232I;ENSP00000360890:V232I	.|ENSP00000254029:V232I	C|V	+|+	2|1	0|0	WDR44|WDR44	117411130|117411130	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.959000|0.959000	0.62525|0.62525	3.911000|3.911000	0.56378|0.56378	2.301000|2.301000	0.77427|0.77427	0.600000|0.600000	0.82982|0.82982	TGT|GTT		0.517	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		88	130	0	0	0	0.00361006	0	88	130				
DNMT1	1786	broad.mit.edu	37	19	10265725	10265725	+	Silent	SNP	G	G	A	rs75443147	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:10265725G>A	ENST00000340748.4	-	19	1687	c.1452C>T	c.(1450-1452)gcC>gcT	p.A484A	DNMT1_ENST00000540357.1_Silent_p.A484A|DNMT1_ENST00000359526.4_Silent_p.A500A			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	484	DNA replication foci-targeting sequence. {ECO:0000250}.|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GAATGTATTCGGCAAATGCTG	0.532													G|||	43	0.00858626	0.0	0.0	5008	,	,		20399	0.0268		0.005	False		,,,				2504	0.0112					ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(1450-1452)gcC>gcT		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	G	,	2,4404	4.2+/-10.8	0,2,2201	78.0	76.0	77.0		1500,1452	-11.9	0.1	19	dbSNP_131	77	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous	DNMT1	NM_001130823.1,NM_001379.2	,	0,8,6495	AA,AG,GG		0.0698,0.0454,0.0615	,	500/1633,484/1617	10265725	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10265725G>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.1452C>T	19.37:g.10265725G>A						DNMT1_ENST00000359526.4_Silent_p.A500A|DNMT1_ENST00000540357.1_Silent_p.A484A	p.A484A			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		19	1687	-			484			DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	c.1452C>T	CCDS12228.1																																																																																				0.532	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		37	38	0	0	0	0.00170553	0	37	38				
TRIM22	10346	broad.mit.edu	37	11	5730671	5730671	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:5730671G>A	ENST00000379965.3	+	8	1567	c.1290G>A	c.(1288-1290)aaG>aaA	p.K430K	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	430	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		CTGATCCCAAGGTTTTGACTC	0.423																																					GBM(104;491 2336 5222)	ENST00000379965.3																			0				kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23						c.(1288-1290)aaG>aaA		tripartite motif containing 22							96.0	104.0	102.0					11																	5730671		2201	4297	6498	SO:0001819	synonymous_variant	10346				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr11:5730671G>A	X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1290G>A	11.37:g.5730671G>A						TRIM5_ENST00000380027.1_Intron	p.K430K	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)	8	1567	+		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	430			B30.2/SPRY.		Q05CQ0|Q15521	Silent	SNP	ENST00000379965.3	37	c.1290G>A	CCDS41612.1																																																																																				0.423	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143387.2	NM_006074		44	80	0	0	0	0.00321405	0	44	80				
PASD1	139135	broad.mit.edu	37	X	150791486	150791486	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:150791486C>A	ENST00000370357.4	+	7	741	c.496C>A	c.(496-498)Cgg>Agg	p.R166R		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	166						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGGAGGATCGGCTTTATCT	0.502																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(496-498)Cgg>Agg		PAS domain containing 1							281.0	214.0	236.0					X																	150791486		2203	4300	6503	SO:0001819	synonymous_variant	139135					nucleus	signal transducer activity	g.chrX:150791486C>A	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.496C>A	X.37:g.150791486C>A							p.R166R	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			7	741	+	Acute lymphoblastic leukemia(192;6.56e-05)		166					Q3MNE0|Q69HD7|Q8N7X9	Silent	SNP	ENST00000370357.4	37	c.496C>A	CCDS35431.1																																																																																				0.502	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		63	104	1	0	2.53126e-37	0.00361006	9.75065e-37	63	104				
SRCAP	10847	broad.mit.edu	37	16	30749357	30749357	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:30749357G>T	ENST00000262518.4	+	34	8381	c.7996G>T	c.(7996-7998)Gag>Tag	p.E2666*	SRCAP_ENST00000395059.2_Nonsense_Mutation_p.E2604*|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.E2508*|RP11-2C24.4_ENST00000483578.1_lincRNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2666	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCACTTCAGGAGCCACTGGA	0.592																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(7996-7998)Gag>Tag		Snf2-related CREBBP activator protein							63.0	56.0	59.0					16																	30749357		2197	4300	6497	SO:0001587	stop_gained	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30749357G>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7996G>T	16.37:g.30749357G>T	ENSP00000262518:p.Glu2666*					SRCAP_ENST00000395059.2_Nonsense_Mutation_p.E2604*|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.E2508*	p.E2666*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	8381	+			2666			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Nonsense_Mutation	SNP	ENST00000262518.4	37	c.7996G>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	44	10.995550	0.99500	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	.	.	.	4.66	2.63	0.31362	.	0.772781	0.11263	N	0.582353	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-0.7488	8.9633	0.35860	0.0:0.1616:0.6708:0.1676	.	.	.	.	X	2666;2604;2508	.	ENSP00000262518:E2666X	E	+	1	0	SRCAP	30656858	0.991000	0.36638	0.954000	0.39281	0.422000	0.31414	1.363000	0.34159	0.542000	0.28846	0.467000	0.42956	GAG		0.592	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		34	70	1	0	5.91797e-21	0.0024448	2.07302e-20	34	70				
TTN	7273	broad.mit.edu	37	2	179614488	179614488	+	Intron	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:179614488G>T	ENST00000591111.1	-	45	10585				TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S4213R|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAATTGGTGGCTACAATTAA	0.348																																						ENST00000360870.5																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(12637-12639)agC>agA		titin							46.0	51.0	49.0					2																	179614488		2194	4289	6483	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179614488G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+3362C>A	2.37:g.179614488G>T						TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron	p.S4213R	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12861	-			3557					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.12639C>A		.	.	.	.	.	.	.	.	.	.	G	0.652	-0.809151	0.02798	.	.	ENSG00000155657	ENST00000360870	T	0.66815	-0.23	5.84	2.9	0.33743	.	.	.	.	.	T	0.44008	0.1273	L	0.28344	0.845	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.21861	-1.0233	9	0.12103	T	0.63	.	1.4173	0.02304	0.2655:0.1176:0.4102:0.2067	.	4213	Q8WZ42-6	.	R	4213	ENSP00000354117:S4213R	ENSP00000354117:S4213R	S	-	3	2	TTN	179322733	0.000000	0.05858	0.058000	0.19502	0.026000	0.11368	-0.392000	0.07314	0.826000	0.34661	0.655000	0.94253	AGC		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	29	1	0	7.93312e-07	0.00244969	2.22053e-06	14	29				
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488													C|||	539	0.107628	0.0083	0.0692	5008	,	,		20710	0.1776		0.1074	False		,,,				2504	0.1973					ENST00000418868.1																			0																																																			220729							g.chr3:197348668C>G																													3.37:g.197348668C>G								NR_003266.2						0	591	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.488	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	93	0	0	0	0.000602214	0	4	93				
GPR98	84059	broad.mit.edu	37	5	89933676	89933676	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:89933676A>T	ENST00000405460.2	+	11	2247	c.2151A>T	c.(2149-2151)ttA>ttT	p.L717F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	717	Calx-beta 5. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTTGTTTTTATCTGGGCAAA	0.418																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(2149-2151)ttA>ttT		G protein-coupled receptor 98							93.0	85.0	88.0					5																	89933676		1842	4088	5930	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89933676A>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.2151A>T	5.37:g.89933676A>T	ENSP00000384582:p.Leu717Phe						p.L717F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	11	2247	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	717			Calx-beta 5.		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.2151A>T	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.97|14.97	2.695156|2.695156	0.48202|0.48202	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000504142|ENST00000405460;ENST00000296619;ENST00000399043	.|T	.|0.28454	.|1.61	5.46|5.46	0.284|0.284	0.15701|0.15701	.|.	.|0.066837	.|0.56097	.|N	.|0.000026	T|T	0.25865|0.25865	0.0630|0.0630	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|B	.|0.32753	.|0.383	.|B	.|0.28784	.|0.094	T|T	0.03095|0.03095	-1.1073|-1.1073	5|10	.|0.54805	.|T	.|0.06	.|.	5.3043|5.3043	0.15795|0.15795	0.679:0.0:0.2012:0.1198|0.679:0.0:0.2012:0.1198	.|.	.|717	.|Q8WXG9	.|GPR98_HUMAN	F|F	306|717	.|ENSP00000384582:L717F	.|ENSP00000296619:L717F	I|L	+|+	1|3	0|2	GPR98|GPR98	89969432|89969432	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.988000|0.988000	0.76386|0.76386	1.438000|1.438000	0.35002|0.35002	-0.177000|-0.177000	0.10690|0.10690	-0.263000|-0.263000	0.10527|0.10527	ATC|TTA		0.418	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		23	14	0	0	0	0.00332997	0	23	14				
ZNF883	169834	broad.mit.edu	37	9	115760032	115760032	+	lincRNA	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:115760032C>T	ENST00000427548.1	-	0	1781							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CCCTGATGTTCAATTAGGTGT	0.403																																						ENST00000427548.1																			0													zinc finger protein 883							105.0	103.0	104.0					9																	115760032		2141	4268	6409			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115760032C>T	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760032C>T										P0CG24	ZN883_HUMAN			0	1781	-									RNA	SNP	ENST00000427548.1	37																																																																																						0.403	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338		29	45	0	0	0	0.00127121	0	29	45				
HAPLN4	404037	broad.mit.edu	37	19	19368850	19368850	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:19368850G>A	ENST00000291481.7	-	5	1048	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	329	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	ATGGGGTAGCGCGCACTGCCA	0.731																																						ENST00000291481.7																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16						c.(985-987)Cgc>Tgc		hyaluronan and proteoglycan link protein 4							4.0	5.0	5.0					19																	19368850		1992	4002	5994	SO:0001583	missense	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19368850G>A	AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.985C>T	19.37:g.19368850G>A	ENSP00000291481:p.Arg329Cys					AC138430.4_ENST00000586064.2_RNA	p.R329C	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		5	1048	-			329			Link 2.		A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	c.985C>T	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818050	0.90790	.	.	ENSG00000187664	ENST00000291481	T	0.10573	2.86	4.01	4.01	0.46588	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.080005	0.56097	D	0.000027	T	0.45316	0.1336	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63337	-0.6660	10	0.87932	D	0	-13.4298	13.6423	0.62257	0.0:0.0:1.0:0.0	.	329	Q86UW8	HPLN4_HUMAN	C	329	ENSP00000291481:R329C	ENSP00000291481:R329C	R	-	1	0	HAPLN4	19229850	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.258000	0.78371	2.060000	0.61445	0.491000	0.48974	CGC		0.731	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		4	4	0	0	0	0.00024832	0	4	4				
FLG	2312	broad.mit.edu	37	1	152282723	152282723	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:152282723C>T	ENST00000368799.1	-	3	4674	c.4639G>A	c.(4639-4641)Gag>Aag	p.E1547K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1547	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGTTCCTCATTTCTTGTT	0.587									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4639-4641)Gag>Aag		filaggrin							282.0	277.0	279.0					1																	152282723		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282723C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4639G>A	1.37:g.152282723C>T	ENSP00000357789:p.Glu1547Lys					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.E1547K	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4674	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1547			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4639G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	6.979	0.550632	0.13374	.	.	ENSG00000143631	ENST00000368799	T	0.01647	4.71	2.71	-3.81	0.04294	.	.	.	.	.	T	0.00440	0.0014	M	0.63428	1.95	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.50398	-0.8833	9	0.06099	T	0.92	.	1.3055	0.02087	0.1371:0.1576:0.2223:0.483	.	1547	P20930	FILA_HUMAN	K	1547	ENSP00000357789:E1547K	ENSP00000357789:E1547K	E	-	1	0	FLG	150549347	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.365000	0.07573	-0.493000	0.06678	-1.920000	0.00515	GAG		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		168	237	0	0	0	0.00361006	0	168	237				
SF1	7536	broad.mit.edu	37	11	64536570	64536570	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:64536570G>T	ENST00000377390.3	-	8	1148	c.811C>A	c.(811-813)Cgc>Agc	p.R271S	SF1_ENST00000377387.1_Missense_Mutation_p.R396S|SF1_ENST00000377394.3_Missense_Mutation_p.R271S|SF1_ENST00000422298.2_Missense_Mutation_p.R156S|SF1_ENST00000433274.2_Missense_Mutation_p.R245S|SF1_ENST00000227503.9_Missense_Mutation_p.R271S|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000334944.5_Missense_Mutation_p.R271S	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	271					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GTAATGCTGCGGGTCTCTGAG	0.488																																						ENST00000377390.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.(811-813)Cgc>Agc		splicing factor 1							139.0	144.0	142.0					11																	64536570		2201	4297	6498	SO:0001583	missense	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64536570G>T	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.811C>A	11.37:g.64536570G>T	ENSP00000366607:p.Arg271Ser					SF1_ENST00000377394.3_Missense_Mutation_p.R271S|SF1_ENST00000433274.2_Missense_Mutation_p.R245S|SF1_ENST00000227503.9_Missense_Mutation_p.R271S|SF1_ENST00000334944.5_Missense_Mutation_p.R271S|SF1_ENST00000422298.2_Missense_Mutation_p.R156S|SF1_ENST00000377387.1_Missense_Mutation_p.R396S|SF1_ENST00000489544.1_5'UTR	p.R271S	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN			8	1148	-			271					B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.811C>A	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.240189	0.58995	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.78;0.83;0.74;0.78;0.75	5.81	5.81	0.92471	.	0.231473	0.42053	D	0.000774	T	0.33731	0.0873	N	0.12746	0.255	0.58432	D	0.999999	P;B;B;P;P;P	0.51537	0.884;0.079;0.205;0.769;0.851;0.946	B;B;B;B;P;B	0.44811	0.254;0.054;0.104;0.272;0.461;0.438	T	0.15122	-1.0448	10	0.46703	T	0.11	.	12.5139	0.56021	0.0:0.0:0.8333:0.1667	.	156;271;271;271;271;396	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	S	396;271;271;271;271;156;245	ENSP00000366604:R396S;ENSP00000366607:R271S;ENSP00000227503:R271S;ENSP00000366611:R271S;ENSP00000334414:R271S;ENSP00000413084:R156S;ENSP00000396793:R245S	ENSP00000227503:R271S	R	-	1	0	SF1	64293146	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.406000	0.80017	2.752000	0.94435	0.557000	0.71058	CGC		0.488	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		5	212	1	0	0.00198382	0.00198382	0.00513308	5	212				
SDPR	8436	broad.mit.edu	37	2	192701281	192701281	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:192701281C>G	ENST00000304141.4	-	2	975	c.646G>C	c.(646-648)Gaa>Caa	p.E216Q		NM_004657.5	NP_004648.1			serum deprivation response											NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)			GCACTGTCTTCCAGGGCCTCC	0.502																																						ENST00000304141.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23						c.(646-648)Gaa>Caa		serum deprivation response	Phosphatidylserine(DB00144)						102.0	108.0	106.0					2																	192701281		2203	4300	6503	SO:0001583	missense	8436					caveola|cytosol	phosphatidylserine binding|protein binding	g.chr2:192701281C>G	AF085481	CCDS2313.1	2q32-q33	2011-04-20	2009-09-18		ENSG00000168497	ENSG00000168497			10690	protein-coding gene	gene with protein product	"""phosphatidylserine binding protein"""	606728	"""serum deprivation response (phosphatidylserine-binding protein)"", ""serum deprivation response (phosphatidylserine binding protein)"""			10191091, 8241023	Standard	NM_004657		Approved	SDR, PS-p68, cavin-2, CAVIN2	uc002utb.3	O95810	OTTHUMG00000154309	ENST00000304141.4:c.646G>C	2.37:g.192701281C>G	ENSP00000305675:p.Glu216Gln						p.E216Q	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0647)		2	975	-			216						Missense_Mutation	SNP	ENST00000304141.4	37	c.646G>C	CCDS2313.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.919111	0.33908	.	.	ENSG00000168497	ENST00000304141	T	0.66995	-0.24	5.16	4.28	0.50868	.	1.078700	0.07044	N	0.830673	T	0.65585	0.2705	L	0.54323	1.7	0.31768	N	0.632461	B	0.21225	0.053	B	0.15484	0.013	T	0.60627	-0.7226	10	0.40728	T	0.16	-11.6826	14.2565	0.66055	0.0:0.8515:0.1485:0.0	.	216	O95810	SDPR_HUMAN	Q	216	ENSP00000305675:E216Q	ENSP00000305675:E216Q	E	-	1	0	SDPR	192409526	0.943000	0.32029	1.000000	0.80357	0.107000	0.19398	3.543000	0.53633	1.403000	0.46800	0.563000	0.77884	GAA		0.502	SDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334791.2	NM_004657		47	79	0	0	0	0.00361006	0	47	79				
DUOX2	50506	broad.mit.edu	37	15	45402630	45402630	+	Missense_Mutation	SNP	T	T	A	rs573609412		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:45402630T>A	ENST00000603300.1	-	9	1238	c.1036A>T	c.(1036-1038)Atg>Ttg	p.M346L	DUOX2_ENST00000389039.6_Missense_Mutation_p.M346L	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	346	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCTCACCTCATGTAGACACCA	0.577																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(1036-1038)Atg>Ttg		dual oxidase 2							48.0	45.0	46.0					15																	45402630		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45402630T>A	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1036A>T	15.37:g.45402630T>A	ENSP00000475084:p.Met346Leu					DUOX2_ENST00000603300.1_Missense_Mutation_p.M346L	p.M346L			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	9	1421	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	346			Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.1036A>T	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	T	17.61	3.431886	0.62844	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.88	5.88	0.94601	.	0.114545	0.85682	D	0.000000	T	0.42245	0.1194	N	0.17474	0.49	0.49389	D	0.999788	B	0.13145	0.007	B	0.14023	0.01	T	0.28522	-1.0041	9	0.20519	T	0.43	.	15.4605	0.75353	0.0:0.0:0.0:1.0	.	346	Q9NRD8	DUOX2_HUMAN	L	346	.	ENSP00000373691:M346L	M	-	1	0	DUOX2	43189922	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.961000	0.87903	2.251000	0.74343	0.482000	0.46254	ATG		0.577	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		21	21	0	0	0	0.00188189	0	21	21				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	45	0	0	0	0.00024832	0	4	45				
AKAP14	158798	broad.mit.edu	37	X	119037469	119037469	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:119037469C>G	ENST00000371431.3	+	4	455	c.181C>G	c.(181-183)Cct>Gct	p.P61A	AKAP14_ENST00000371422.1_Missense_Mutation_p.P61A|AKAP14_ENST00000371425.4_Missense_Mutation_p.P61A|AKAP14_ENST00000371423.2_Missense_Mutation_p.P61A|AKAP14_ENST00000394594.2_Missense_Mutation_p.P61A|AKAP14_ENST00000334356.2_Missense_Mutation_p.P61A	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	61					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				endometrium(4)|large_intestine(1)|lung(8)	13						GGAGCGAAACCCTTTGAAAAA	0.393																																						ENST00000371431.3																			0				endometrium(4)|large_intestine(1)|lung(8)	13						c.(181-183)Cct>Gct		A kinase (PRKA) anchor protein 14							98.0	80.0	86.0					X																	119037469		2203	4300	6503	SO:0001583	missense	158798					cytoplasm		g.chrX:119037469C>G	AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471		"""A-kinase anchor proteins"""	24061	protein-coding gene	gene with protein product		300462				12475942	Standard	NM_178813		Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.181C>G	X.37:g.119037469C>G	ENSP00000360485:p.Pro61Ala					AKAP14_ENST00000371423.2_Missense_Mutation_p.P61A|AKAP14_ENST00000334356.2_Missense_Mutation_p.P61A|AKAP14_ENST00000394594.2_Missense_Mutation_p.P61A|AKAP14_ENST00000371425.4_Missense_Mutation_p.P61A|AKAP14_ENST00000371422.1_Missense_Mutation_p.P61A	p.P61A	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN			4	455	+			61					A6NNZ0|Q86UN4|Q86UN5	Missense_Mutation	SNP	ENST00000371431.3	37	c.181C>G	CCDS14591.1	.	.	.	.	.	.	.	.	.	.	C	1.794	-0.478854	0.04414	.	.	ENSG00000186471	ENST00000371431;ENST00000371423;ENST00000371425;ENST00000394594;ENST00000371422;ENST00000334356	.	.	.	3.9	0.853	0.19001	.	0.568075	0.16800	N	0.199013	T	0.39009	0.1062	N	0.19112	0.55	0.09310	N	1	D;D;D	0.89917	0.999;0.978;1.0	D;P;D	0.72338	0.953;0.844;0.977	T	0.21211	-1.0252	9	0.56958	D	0.05	-2.7415	8.7077	0.34365	0.6023:0.3977:0.0:0.0	.	61;61;61	A6NNZ0;Q86UN6;Q86UN6-3	.;AKA28_HUMAN;.	A	61	.	ENSP00000334680:P61A	P	+	1	0	AKAP14	118921497	0.000000	0.05858	0.009000	0.14445	0.005000	0.04900	0.138000	0.16016	0.045000	0.15804	0.600000	0.82982	CCT		0.393	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058078.1	NM_178813		11	32	0	0	0	0.000978159	0	11	32				
CYTIP	9595	broad.mit.edu	37	2	158272457	158272457	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:158272457C>A	ENST00000264192.3	-	8	933	c.812G>T	c.(811-813)aGg>aTg	p.R271M	CYTIP_ENST00000540637.1_Missense_Mutation_p.R165M	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	271	Ser-rich.				regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GAAGGCACCCCTGCTGGAGTC	0.532																																						ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(811-813)aGg>aTg		cytohesin 1 interacting protein							87.0	82.0	83.0					2																	158272457		2203	4300	6503	SO:0001583	missense	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158272457C>A	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.812G>T	2.37:g.158272457C>A	ENSP00000264192:p.Arg271Met					CYTIP_ENST00000540637.1_Missense_Mutation_p.R165M	p.R271M	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			8	933	-			271			Ser-rich.		B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	c.812G>T	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937822	0.34189	.	.	ENSG00000115165	ENST00000264192;ENST00000540637	T;T	0.45276	2.2;0.9	5.75	2.52	0.30459	.	0.885605	0.09901	N	0.741055	T	0.39759	0.1090	L	0.57536	1.79	0.09310	N	1	B	0.30709	0.291	B	0.31191	0.125	T	0.33317	-0.9873	10	0.52906	T	0.07	-3.9412	8.9426	0.35740	0.0:0.6669:0.114:0.2191	.	271	O60759	CYTIP_HUMAN	M	271;165	ENSP00000264192:R271M;ENSP00000440801:R165M	ENSP00000264192:R271M	R	-	2	0	CYTIP	157980703	0.000000	0.05858	0.011000	0.14972	0.995000	0.86356	0.128000	0.15810	0.764000	0.33197	0.655000	0.94253	AGG		0.532	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		23	48	1	0	2.98393e-07	0.00278032	8.45095e-07	23	48				
TRA2B	6434	broad.mit.edu	37	3	185636179	185636179	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:185636179C>A	ENST00000453386.2	-	8	1105	c.830G>T	c.(829-831)cGt>cTt	p.R277L	TRA2B_ENST00000382191.4_Missense_Mutation_p.R177L	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	277	Arg/Ser-rich (RS2 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						AGATCTGGAACGTGATCTGTA	0.368																																						ENST00000453386.2																			0				breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						c.(829-831)cGt>cTt		transformer 2 beta homolog (Drosophila)							130.0	126.0	127.0					3																	185636179		2203	4300	6503	SO:0001583	missense	6434				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	g.chr3:185636179C>A	AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.830G>T	3.37:g.185636179C>A	ENSP00000416959:p.Arg277Leu					TRA2B_ENST00000382191.4_Missense_Mutation_p.R177L	p.R277L	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN			8	1105	-			277			Arg/Ser-rich (RS2 domain).		B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	ENST00000453386.2	37	c.830G>T	CCDS33905.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.43|16.43	3.121591|3.121591	0.56613|0.56613	.|.	.|.	ENSG00000136527|ENSG00000136527	ENST00000453386;ENST00000382191|ENST00000259043;ENST00000414862	T;T|.	0.24538|.	1.87;1.85|.	6.17|6.17	4.39|4.39	0.52855|0.52855	.|.	0.107190|.	0.64402|.	D|.	0.000005|.	T|T	0.58821|0.58821	0.2149|0.2149	L|L	0.46819|0.46819	1.47|1.47	0.80722|0.80722	D|D	1|1	B;P|.	0.38677|.	0.385;0.642|.	B;B|.	0.31390|.	0.098;0.129|.	T|T	0.54180|0.54180	-0.8332|-0.8332	10|5	0.15499|.	T|.	0.54|.	5.8282|5.8282	11.8316|11.8316	0.52299|0.52299	0.0:0.8578:0.0:0.1422|0.0:0.8578:0.0:0.1422	.|.	277;277|.	B2RDQ3;P62995|.	.;TRA2B_HUMAN|.	L|F	277;177|116;96	ENSP00000416959:R277L;ENSP00000371626:R177L|.	ENSP00000371626:R177L|.	R|V	-|-	2|1	0|0	TRA2B|TRA2B	187118873|187118873	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.756000|7.756000	0.85195|0.85195	0.938000|0.938000	0.37419|0.37419	0.655000|0.655000	0.94253|0.94253	CGT|GTT		0.368	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593		21	50	1	0	1.96292e-10	0.00152264	6.07644e-10	21	50				
PRKDC	5591	broad.mit.edu	37	8	48697683	48697683	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:48697683C>A	ENST00000314191.2	-	78	11151	c.11095G>T	c.(11095-11097)Gag>Tag	p.E3699*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E3699*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3700					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CCGGGAATCTCCAGCTCATTT	0.453								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(11095-11097)Gag>Tag	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							76.0	72.0	73.0					8																	48697683		1837	4095	5932	SO:0001587	stop_gained	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48697683C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.11095G>T	8.37:g.48697683C>A	ENSP00000313420:p.Glu3699*					PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E3699*	p.E3699*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			78	11151	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	3700					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Nonsense_Mutation	SNP	ENST00000314191.2	37	c.11095G>T		.	.	.	.	.	.	.	.	.	.	C	52	19.864880	0.99924	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	.	.	.	X	3699	.	ENSP00000313420:E3699X	E	-	1	0	PRKDC	48860236	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	7.440000	0.80464	2.735000	0.93741	0.655000	0.94253	GAG		0.453	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		23	32	1	0	3.01185e-09	0.00395357	9.1116e-09	23	32				
PDE4D	5144	broad.mit.edu	37	5	58287799	58287799	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:58287799T>A	ENST00000340635.6	-	8	1223	c.1048A>T	c.(1048-1050)Act>Tct	p.T350S	PDE4D_ENST00000317118.8_Missense_Mutation_p.T59S|PDE4D_ENST00000546160.1_Missense_Mutation_p.T289S|PDE4D_ENST00000503258.1_Missense_Mutation_p.T220S|PDE4D_ENST00000502484.2_Missense_Mutation_p.T289S|PDE4D_ENST00000405755.2_Missense_Mutation_p.T228S|PDE4D_ENST00000360047.5_Missense_Mutation_p.T214S|PDE4D_ENST00000358923.6_Missense_Mutation_p.T48S|PDE4D_ENST00000507116.1_Missense_Mutation_p.T286S	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	350					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TCCTTCTGAGTTGGAGAAGGA	0.318																																						ENST00000340635.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(1048-1050)Act>Tct		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						95.0	81.0	85.0					5																	58287799		1819	4077	5896	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58287799T>A		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.1048A>T	5.37:g.58287799T>A	ENSP00000345502:p.Thr350Ser					PDE4D_ENST00000360047.5_Missense_Mutation_p.T214S|PDE4D_ENST00000405755.2_Missense_Mutation_p.T228S|PDE4D_ENST00000317118.8_Missense_Mutation_p.T59S|PDE4D_ENST00000503258.1_Missense_Mutation_p.T220S|PDE4D_ENST00000507116.1_Missense_Mutation_p.T286S|PDE4D_ENST00000358923.6_Missense_Mutation_p.T48S|PDE4D_ENST00000502484.2_Missense_Mutation_p.T289S|PDE4D_ENST00000546160.1_Missense_Mutation_p.T289S	p.T350S	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	8	1223	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	350					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.1048A>T	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	T	14.25	2.479198	0.44044	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	T;T;T;T;T;T;T;T;T;T	0.66099	-0.17;-0.15;-0.16;0.03;0.02;-0.15;-0.16;-0.16;-0.16;-0.19	5.43	5.43	0.79202	.	0.157619	0.64402	D	0.000020	T	0.62073	0.2398	M	0.80183	2.485	0.37063	D	0.898186	B;B;B;B;B;B;B;B	0.24483	0.073;0.104;0.006;0.002;0.005;0.002;0.017;0.002	B;B;B;B;B;B;B;B	0.22386	0.037;0.039;0.009;0.003;0.02;0.009;0.02;0.034	T	0.65286	-0.6205	10	0.37606	T	0.19	.	10.0268	0.42076	0.0:0.0744:0.0:0.9256	.	289;350;286;213;228;220;125;59	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	S	350;219;214;286;48;59;220;228;289;289;48	ENSP00000345502:T350S;ENSP00000353152:T214S;ENSP00000424852:T286S;ENSP00000351800:T48S;ENSP00000321739:T59S;ENSP00000425605:T220S;ENSP00000384806:T228S;ENSP00000423094:T289S;ENSP00000442734:T289S;ENSP00000421013:T48S	ENSP00000321739:T59S	T	-	1	0	PDE4D	58323556	0.997000	0.39634	0.998000	0.56505	0.994000	0.84299	1.922000	0.40045	2.279000	0.76181	0.533000	0.62120	ACT		0.318	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			7	1	0	0	0	0.00198382	0	7	1				
SORCS3	22986	broad.mit.edu	37	10	107016579	107016579	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:107016579C>T	ENST00000369701.3	+	25	3567	c.3340C>T	c.(3340-3342)Cca>Tca	p.P1114S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1114					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTTCCAAGCTCCATTGGTGGA	0.458																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(3340-3342)Cca>Tca		sortilin-related VPS10 domain containing receptor 3							143.0	119.0	127.0					10																	107016579		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107016579C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3340C>T	10.37:g.107016579C>T	ENSP00000358715:p.Pro1114Ser						p.P1114S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	25	3567	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1114					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.3340C>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436395	0.83885	.	.	ENSG00000156395	ENST00000369701	T	0.14766	2.48	5.93	5.93	0.95920	.	0.055693	0.64402	D	0.000001	T	0.34048	0.0884	L	0.55481	1.735	0.80722	D	1	D	0.69078	0.997	D	0.66602	0.945	T	0.00134	-1.2008	9	.	.	.	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	1114	Q9UPU3	SORC3_HUMAN	S	1114	ENSP00000358715:P1114S	.	P	+	1	0	SORCS3	107006569	1.000000	0.71417	0.989000	0.46669	0.679000	0.39708	7.398000	0.79919	2.826000	0.97356	0.655000	0.94253	CCA		0.458	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		16	10	0	0	0	0.00316338	0	16	10				
OR5L1	219437	broad.mit.edu	37	11	55579555	55579555	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:55579555T>A	ENST00000333973.2	+	1	702	c.613T>A	c.(613-615)Ttg>Atg	p.L205M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GGTGGCCACTTTGAATGAGAG	0.463																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(613-615)Ttg>Atg		olfactory receptor, family 5, subfamily L, member 1							247.0	203.0	218.0					11																	55579555		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579555T>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.613T>A	11.37:g.55579555T>A	ENSP00000335529:p.Leu205Met						p.L205M	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	702	+		all_epithelial(135;0.208)	205					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.613T>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	t	13.19	2.162612	0.38217	.	.	ENSG00000186117	ENST00000333973	T	0.44083	0.93	4.12	-1.44	0.08856	GPCR, rhodopsin-like superfamily (1);	0.235594	0.30347	N	0.009832	T	0.39172	0.1068	L	0.60455	1.87	0.09310	N	1	P	0.40230	0.708	B	0.43916	0.436	T	0.38178	-0.9673	10	0.87932	D	0	-25.2197	8.4262	0.32731	0.0:0.0848:0.5501:0.3651	.	205	Q8NGL2	OR5L1_HUMAN	M	205	ENSP00000335529:L205M	ENSP00000335529:L205M	L	+	1	2	OR5L1	55336131	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.691000	0.05133	-0.285000	0.09089	-0.836000	0.03065	TTG		0.463	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		48	101	0	0	0	0.00321405	0	48	101				
ETS1	2113	broad.mit.edu	37	11	128360449	128360449	+	Silent	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:128360449T>A	ENST00000319397.6	-	2	414	c.105A>T	c.(103-105)ccA>ccT	p.P35P	ETS1_ENST00000392668.4_Silent_p.P79P|ETS1_ENST00000531611.1_Silent_p.P35P|ETS1_ENST00000345075.4_Silent_p.P35P|ETS1_ENST00000526145.2_Silent_p.P35P|ETS1_ENST00000535549.1_Intron	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	35					angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GAGTTAATAGTGGGACATCTG	0.358																																						ENST00000392668.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(235-237)ccA>ccT		v-ets avian erythroblastosis virus E26 oncogene homolog 1							121.0	114.0	117.0					11																	128360449		2201	4297	6498	SO:0001819	synonymous_variant	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128360449T>A		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.105A>T	11.37:g.128360449T>A						ETS1_ENST00000531611.1_Silent_p.P35P|ETS1_ENST00000319397.5_Silent_p.P35P|ETS1_ENST00000345075.4_Silent_p.P35P|ETS1_ENST00000526145.1_Silent_p.P35P|ETS1_ENST00000535549.1_Intron	p.P79P	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	4	305	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	35			PNT.		A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Silent	SNP	ENST00000319397.6	37	c.237A>T	CCDS8475.1																																																																																				0.358	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		15	17	0	0	0	0.00316338	0	15	17				
ENPP7	339221	broad.mit.edu	37	17	77708950	77708950	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:77708950A>G	ENST00000328313.5	+	3	729	c.508A>G	c.(508-510)Acg>Gcg	p.T170A		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CAAAAATGAGACGGAGTGGAG	0.597																																						ENST00000328313.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(508-510)Acg>Gcg		ectonucleotide pyrophosphatase/phosphodiesterase 7							87.0	69.0	75.0					17																	77708950		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77708950A>G	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.508A>G	17.37:g.77708950A>G	ENSP00000332656:p.Thr170Ala						p.T170A	NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	729	+			170						Missense_Mutation	SNP	ENST00000328313.5	37	c.508A>G	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	A	8.651	0.898298	0.17686	.	.	ENSG00000182156	ENST00000328313	T	0.75154	-0.91	4.54	-8.06	0.01102	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.314418	0.32884	N	0.005529	T	0.51652	0.1687	L	0.31804	0.96	0.28404	N	0.918518	B	0.09022	0.002	B	0.17979	0.02	T	0.15178	-1.0446	10	0.35671	T	0.21	-0.0187	7.6772	0.28492	0.4515:0.4184:0.1301:0.0	.	170	Q6UWV6	ENPP7_HUMAN	A	170	ENSP00000332656:T170A	ENSP00000332656:T170A	T	+	1	0	ENPP7	75323545	0.060000	0.20803	0.000000	0.03702	0.428000	0.31595	0.674000	0.25218	-2.110000	0.00837	0.482000	0.46254	ACG		0.597	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		21	31	0	0	0	0.00395357	0	21	31				
POM121L12	285877	broad.mit.edu	37	7	53103797	53103797	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:53103797G>T	ENST00000408890.4	+	1	449	c.433G>T	c.(433-435)Gag>Tag	p.E145*		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	145										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGCGCCCCCTGAGCGTCAGGA	0.711																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(433-435)Gag>Tag		POM121 transmembrane nucleoporin-like 12							19.0	23.0	22.0					7																	53103797		1930	4098	6028	SO:0001587	stop_gained	285877							g.chr7:53103797G>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.433G>T	7.37:g.53103797G>T	ENSP00000386133:p.Glu145*						p.E145*	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	449	+			145					Q8NDI9	Nonsense_Mutation	SNP	ENST00000408890.4	37	c.433G>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301222	0.40694	.	.	ENSG00000221900	ENST00000408890	.	.	.	1.95	-0.149	0.13420	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.4764	0.27378	0.0:0.5353:0.4647:0.0	.	.	.	.	X	145	.	ENSP00000386133:E145X	E	+	1	0	POM121L12	53071291	0.016000	0.18221	0.001000	0.08648	0.003000	0.03518	1.476000	0.35420	-0.030000	0.13804	0.455000	0.32223	GAG		0.711	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		11	24	1	0	1.5842e-08	0.00185496	4.65165e-08	11	24				
TRPM6	140803	broad.mit.edu	37	9	77354822	77354822	+	Missense_Mutation	SNP	C	C	A	rs144713167		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:77354822C>A	ENST00000360774.1	-	34	5541	c.5304G>T	c.(5302-5304)caG>caT	p.Q1768H	TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1772H|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1763H|TRPM6_ENST00000376872.3_Missense_Mutation_p.Q723H|TRPM6_ENST00000451710.3_Missense_Mutation_p.Q1772H|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1763H|TRPM6_ENST00000376871.3_Missense_Mutation_p.Q605H	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1768	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGGACAATACCTGGATCATTG	0.498																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(5314-5316)caG>caT		transient receptor potential cation channel, subfamily M, member 6							101.0	88.0	93.0					9																	77354822		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77354822C>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5304G>T	9.37:g.77354822C>A	ENSP00000354006:p.Gln1768His					TRPM6_ENST00000376871.3_Missense_Mutation_p.Q605H|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1772H|TRPM6_ENST00000360774.1_Missense_Mutation_p.Q1768H|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1763H|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1763H|TRPM6_ENST00000376872.3_Missense_Mutation_p.Q723H	p.Q1772H			Q9BX84	TRPM6_HUMAN			33	5553	-			1768			Alpha-type protein kinase.		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.5316G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971362	0.74246	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000376872;ENST00000376871;ENST00000449912;ENST00000361255;ENST00000376870;ENST00000376864	T;T;T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25;3.25;3.25	5.96	2.11	0.27256	MHCK/EF2 kinase (2);Protein kinase-like domain (1);	0.103270	0.64402	D	0.000002	T	0.16514	0.0397	L	0.33485	1.01	0.48452	D	0.999656	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.85130	0.983;0.988;0.997;0.956;0.98;0.98	T	0.00360	-1.1790	10	0.87932	D	0	.	10.3657	0.44021	0.0:0.6571:0.0:0.3429	.	315;601;719;1768;1763;1763	Q9BX84-7;Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.;.;.;TRPM6_HUMAN;.;.	H	1768;1772;723;605;1763;1763;314;1772	ENSP00000354006:Q1768H;ENSP00000407341:Q1772H;ENSP00000366068:Q723H;ENSP00000366067:Q605H;ENSP00000396672:Q1763H;ENSP00000354962:Q1763H;ENSP00000366060:Q1772H	ENSP00000354006:Q1768H	Q	-	3	2	TRPM6	76544642	1.000000	0.71417	0.999000	0.59377	0.914000	0.54420	1.023000	0.30065	0.135000	0.18707	0.655000	0.94253	CAG		0.498	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		33	53	1	0	2.08457e-15	0.00209593	6.93698e-15	33	53				
NBAS	51594	broad.mit.edu	37	2	15679480	15679480	+	Splice_Site	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:15679480A>T	ENST00000281513.5	-	7	405	c.380T>A	c.(379-381)gTt>gAt	p.V127D	NBAS_ENST00000441750.1_Splice_Site_p.V127D	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	127					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GTCTTTCGGAACTAGAACAAA	0.398																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.e7-1		neuroblastoma amplified sequence							72.0	66.0	68.0					2																	15679480		2203	4300	6503	SO:0001630	splice_region_variant	51594							g.chr2:15679480A>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.380-1T>A	2.37:g.15679480A>T						NBAS_ENST00000441750.1_Splice_Site_p.V127_splice	p.V127_splice	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			7	405	-			127					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Splice_Site	SNP	ENST00000281513.5	37	c.379_splice	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	A	19.59	3.856717	0.71834	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.56941	0.43;0.43	5.78	5.78	0.91487	Quinoprotein amine dehydrogenase, beta chain-like (1);	0.000000	0.85682	D	0.000000	T	0.69070	0.3070	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71761	-0.4495	10	0.87932	D	0	.	16.1095	0.81250	1.0:0.0:0.0:0.0	.	127	A2RRP1	NBAS_HUMAN	D	127	ENSP00000413201:V127D;ENSP00000281513:V127D	ENSP00000281513:V127D	V	-	2	0	NBAS	15596931	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	9.207000	0.95064	2.210000	0.71456	0.482000	0.46254	GTT		0.398	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	Missense_Mutation	5	39	0	0	0	0.000602214	0	5	39				
CTNND2	1501	broad.mit.edu	37	5	11082811	11082811	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:11082811T>C	ENST00000304623.8	-	16	2974	c.2785A>G	c.(2785-2787)Atc>Gtc	p.I929V	CTNND2_ENST00000359640.2_Missense_Mutation_p.I871V|CTNND2_ENST00000511377.1_Missense_Mutation_p.I838V|CTNND2_ENST00000503622.1_Missense_Mutation_p.I592V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.I496V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	929					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AACATACCGATGAGCTCCTTA	0.507																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(2785-2787)Atc>Gtc		catenin (cadherin-associated protein), delta 2							133.0	116.0	122.0					5																	11082811		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11082811T>C	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2785A>G	5.37:g.11082811T>C	ENSP00000307134:p.Ile929Val					CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.I871V|CTNND2_ENST00000503622.1_Missense_Mutation_p.I592V|CTNND2_ENST00000458100.2_Missense_Mutation_p.I496V|CTNND2_ENST00000511377.1_Missense_Mutation_p.I838V	p.I929V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			16	2974	-			929					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2785A>G	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063951	0.76187	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.04	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64394	0.2594	M	0.82323	2.585	0.80722	D	1	P;P;P	0.41947	0.766;0.766;0.734	B;B;P	0.50825	0.314;0.314;0.651	T	0.70952	-0.4732	10	0.87932	D	0	.	15.0808	0.72113	0.0:0.0:0.0:1.0	.	592;521;929	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	V	929;871;838;24;496;592	ENSP00000307134:I929V;ENSP00000352661:I871V;ENSP00000426510:I838V;ENSP00000391155:I496V;ENSP00000426887:I592V	ENSP00000307134:I929V	I	-	1	0	CTNND2	11135811	1.000000	0.71417	0.986000	0.45419	0.599000	0.36880	7.982000	0.88131	2.027000	0.59764	0.460000	0.39030	ATC		0.507	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		137	104	0	0	0	0.00361006	0	137	104				
MAGEC1	9947	broad.mit.edu	37	X	140995682	140995682	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:140995682T>A	ENST00000285879.4	+	4	2778	c.2492T>A	c.(2491-2493)gTg>gAg	p.V831E	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	831										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGTTCTCCTGTGAGCTCCTTC	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(2491-2493)gTg>gAg		melanoma antigen family C, 1							136.0	139.0	138.0					X																	140995682		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995682T>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2492T>A	X.37:g.140995682T>A	ENSP00000285879:p.Val831Glu	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.V831E	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2778	+	Acute lymphoblastic leukemia(192;6.56e-05)		831					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2492T>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	-	4.533	0.098885	0.08681	.	.	ENSG00000155495	ENST00000285879	T	0.02158	4.42	1.42	-2.84	0.05751	.	.	.	.	.	T	0.00967	0.0032	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.47045	-0.9147	9	0.54805	T	0.06	.	0.0712	0.00022	0.2724:0.2503:0.2214:0.2559	.	831	O60732	MAGC1_HUMAN	E	831	ENSP00000285879:V831E	ENSP00000285879:V831E	V	+	2	0	MAGEC1	140823348	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-1.126000	0.03254	-1.880000	0.01125	-1.593000	0.00842	GTG		0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		131	190	0	0	0	0.00361006	0	131	190				
CUBN	8029	broad.mit.edu	37	10	16994277	16994277	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:16994277G>C	ENST00000377833.4	-	33	5032	c.4967C>G	c.(4966-4968)cCa>cGa	p.P1656R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1656	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTACTTACATGGAGGTTGCGC	0.438																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(4966-4968)cCa>cGa		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						204.0	188.0	193.0					10																	16994277		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16994277G>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4967C>G	10.37:g.16994277G>C	ENSP00000367064:p.Pro1656Arg						p.P1656R	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			33	5032	-			1656			CUB 11.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.4967C>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771437	0.69992	.	.	ENSG00000107611	ENST00000377833	T	0.16597	2.33	5.75	5.75	0.90469	CUB (5);	0.364180	0.19985	N	0.101684	T	0.50939	0.1645	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.54043	-0.8352	10	0.59425	D	0.04	.	19.9405	0.97159	0.0:0.0:1.0:0.0	.	1656	O60494	CUBN_HUMAN	R	1656	ENSP00000367064:P1656R	ENSP00000367064:P1656R	P	-	2	0	CUBN	17034283	1.000000	0.71417	0.990000	0.47175	0.448000	0.32197	8.583000	0.90794	2.708000	0.92522	0.655000	0.94253	CCA		0.438	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		21	36	0	0	0	0.00152264	0	21	36				
ZFP91	80829	broad.mit.edu	37	11	58384258	58384258	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:58384258G>A	ENST00000316059.6	+	10	1343	c.1172G>A	c.(1171-1173)cGg>cAg	p.R391Q	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R391Q	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	391					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCAGTGCACCGGATGATTCAC	0.428																																						ENST00000316059.6																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1171-1173)cGg>cAg		ZFP91 zinc finger protein							73.0	69.0	71.0					11																	58384258		2201	4295	6496	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58384258G>A	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1172G>A	11.37:g.58384258G>A	ENSP00000339030:p.Arg391Gln					ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R391Q	p.R391Q	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN			10	1343	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	391					A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.1172G>A	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	34	5.406992	0.96051	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.17691	2.26	5.92	5.92	0.95590	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	T	0.25457	0.0619	N	0.17248	0.465	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.77557	0.99;0.978	T	0.04579	-1.0941	10	0.09590	T	0.72	-10.6068	19.1058	0.93294	0.0:0.0:1.0:0.0	.	391;391	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	Q	391	ENSP00000339030:R391Q	ENSP00000374569:R391Q	R	+	2	0	ZFP91	58140834	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.822000	0.97130	0.650000	0.86243	CGG		0.428	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		13	47	0	0	0	0.00316338	0	13	47				
DNAH8	1769	broad.mit.edu	37	6	38851748	38851748	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:38851748C>A	ENST00000359357.3	+	54	7836	c.7582C>A	c.(7582-7584)Cct>Act	p.P2528T	DNAH8_ENST00000449981.2_Missense_Mutation_p.P2745T|DNAH8_ENST00000441566.1_Missense_Mutation_p.P2492T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2528	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATTAATATGCCTGTGATTAA	0.333																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(7582-7584)Cct>Act		dynein, axonemal, heavy chain 8							97.0	101.0	100.0					6																	38851748		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38851748C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7582C>A	6.37:g.38851748C>A	ENSP00000352312:p.Pro2528Thr					DNAH8_ENST00000441566.1_Missense_Mutation_p.P2492T|DNAH8_ENST00000449981.2_Missense_Mutation_p.P2745T	p.P2528T							54	7836	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.7582C>A		.	.	.	.	.	.	.	.	.	.	C	24.6	4.550933	0.86127	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.63417	-0.04;-0.04;-0.04	4.86	4.86	0.63082	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.89037	0.6601	H	0.99894	4.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94489	0.7700	10	0.87932	D	0	.	18.3394	0.90300	0.0:1.0:0.0:0.0	.	2528	Q96JB1	DYH8_HUMAN	T	2733;2733;2528;2492	ENSP00000333363:P2733T;ENSP00000352312:P2528T;ENSP00000402294:P2492T	ENSP00000333363:P2733T	P	+	1	0	DNAH8	38959726	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.047000	0.71038	2.399000	0.81585	0.555000	0.69702	CCT		0.333	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		12	20	1	0	0.00010058	0.00136819	0.000267172	12	20				
DTX1	1840	broad.mit.edu	37	12	113515335	113515335	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:113515335T>G	ENST00000257600.3	+	2	869	c.366T>G	c.(364-366)gaT>gaG	p.D122E		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	122	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGGCCTACGATATGGACATCT	0.622																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(364-366)gaT>gaG		deltex homolog 1 (Drosophila)							102.0	80.0	87.0					12																	113515335		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113515335T>G	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.366T>G	12.37:g.113515335T>G	ENSP00000257600:p.Asp122Glu						p.D122E	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			2	869	+			122			WWE 2.		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.366T>G	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	T	8.577	0.881366	0.17467	.	.	ENSG00000135144	ENST00000257600	T	0.36157	1.27	3.13	2.21	0.28008	WWE domain (2);WWE domain, subgroup (1);	0.133606	0.47455	D	0.000233	T	0.34513	0.0900	L	0.45352	1.415	0.40375	D	0.979381	D	0.59767	0.986	P	0.55923	0.787	T	0.36407	-0.9749	10	0.08179	T	0.78	-11.4703	6.2807	0.21005	0.0:0.7501:0.0:0.2499	.	122	Q86Y01	DTX1_HUMAN	E	122	ENSP00000257600:D122E	ENSP00000257600:D122E	D	+	3	2	DTX1	111999718	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.418000	0.52721	0.496000	0.27904	-0.483000	0.04790	GAT		0.622	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			8	56	0	0	0	0.000274275	0	8	56				
SMCHD1	23347	broad.mit.edu	37	18	2770009	2770009	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:2770009G>C	ENST00000320876.6	+	39	5207	c.4869G>C	c.(4867-4869)atG>atC	p.M1623I	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.M1623I	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1623					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AGCAACAAATGGCAGCACTTA	0.279																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(4867-4869)atG>atC		structural maintenance of chromosomes flexible hinge domain containing 1							63.0	58.0	59.0					18																	2770009		1796	4073	5869	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2770009G>C	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4869G>C	18.37:g.2770009G>C	ENSP00000326603:p.Met1623Ile					SMCHD1_ENST00000261598.8_Missense_Mutation_p.M1623I|RP11-703M24.5_ENST00000583546.1_RNA	p.M1623I	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			39	5207	+			1623					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.4869G>C	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631486	0.87660	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.26660	1.72;1.74	5.76	5.76	0.90799	.	0.075047	0.85682	D	0.000000	T	0.47967	0.1474	L	0.58669	1.825	0.41639	D	0.989069	P	0.50528	0.936	P	0.61201	0.885	T	0.26849	-1.0091	10	0.49607	T	0.09	-20.1897	19.9694	0.97278	0.0:0.0:1.0:0.0	.	1623	A6NHR9	SMHD1_HUMAN	I	1623	ENSP00000326603:M1623I;ENSP00000261598:M1623I	ENSP00000261598:M1623I	M	+	3	0	SMCHD1	2760009	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.082000	0.76851	2.719000	0.93026	0.655000	0.94253	ATG		0.279	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			14	35	0	0	0	0.00400662	0	14	35				
KIRREL3	84623	broad.mit.edu	37	11	126343309	126343309	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:126343309C>T	ENST00000525144.2	-	5	735	c.486G>A	c.(484-486)gcG>gcA	p.A162A	KIRREL3_ENST00000529097.2_Silent_p.A162A|KIRREL3_ENST00000525704.2_Silent_p.A162A	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	162	Ig-like C2-type 2.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A162A(2)|p.A121A(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GAGGGTCCCCCGCACGCAGGC	0.647																																						ENST00000525144.2																			3	Substitution - coding silent(3)	p.A162A(2)|p.A121A(1)	endometrium(3)	central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(484-486)gcG>gcA		kin of IRRE like 3 (Drosophila)							40.0	45.0	44.0					11																	126343309		2074	4193	6267	SO:0001819	synonymous_variant	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126343309C>T	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.486G>A	11.37:g.126343309C>T						KIRREL3_ENST00000525704.2_Silent_p.A162A|KIRREL3_ENST00000529097.2_Silent_p.A162A	p.A162A	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	5	735	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	162			Ig-like C2-type 2.		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	c.486G>A	CCDS53723.1																																																																																				0.647	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		6	7	0	0	0	0.00198382	0	6	7				
DCAF8L1	139425	broad.mit.edu	37	X	27998027	27998027	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:27998027G>A	ENST00000441525.1	-	1	1539	c.1425C>T	c.(1423-1425)ttC>ttT	p.F475F		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	475										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCCCCTCCATGAACTGGATGA	0.512																																						ENST00000441525.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(1423-1425)ttC>ttT		DDB1 and CUL4 associated factor 8-like 1							52.0	47.0	49.0					X																	27998027		2202	4300	6502	SO:0001819	synonymous_variant	139425							g.chrX:27998027G>A		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1425C>T	X.37:g.27998027G>A							p.F475F	NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN			1	1539	-			475					B3KXX1	Silent	SNP	ENST00000441525.1	37	c.1425C>T	CCDS35222.1																																																																																				0.512	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		15	10	0	0	0	0.00400662	0	15	10				
FKRP	79147	broad.mit.edu	37	19	47259642	47259642	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:47259642G>A	ENST00000318584.5	+	4	1232	c.935G>A	c.(934-936)cGc>cAc	p.R312H	FKRP_ENST00000391909.3_Missense_Mutation_p.R312H|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	312			R -> C (in MDDGC5). {ECO:0000269|PubMed:11741828}.		glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TACGAGGAGCGCTGGACGCCC	0.726																																						ENST00000318584.5																			0				NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(934-936)cGc>cAc		fukutin related protein							3.0	4.0	4.0					19																	47259642		1830	3659	5489	SO:0001583	missense	79147					extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity	g.chr19:47259642G>A	AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.935G>A	19.37:g.47259642G>A	ENSP00000326570:p.Arg312His					FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.R312H	p.R312H	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)	4	1232	+		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	312		R -> C (in MDDGC5).			A8K5G7	Missense_Mutation	SNP	ENST00000318584.5	37	c.935G>A	CCDS12691.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880627	0.51801	.	.	ENSG00000181027	ENST00000391909;ENST00000318584	D;D	0.95656	-3.77;-3.77	4.16	4.16	0.48862	.	0.062472	0.64402	D	0.000002	D	0.96256	0.8779	M	0.65975	2.015	0.52501	D	0.999959	D	0.89917	1.0	D	0.63381	0.914	D	0.95869	0.8889	10	0.72032	D	0.01	-16.4809	9.2248	0.37400	0.1026:0.0:0.8974:0.0	.	312	Q9H9S5	FKRP_HUMAN	H	312	ENSP00000375776:R312H;ENSP00000326570:R312H	ENSP00000326570:R312H	R	+	2	0	FKRP	51951482	1.000000	0.71417	0.998000	0.56505	0.112000	0.19704	7.278000	0.78587	2.148000	0.66965	0.305000	0.20034	CGC		0.726	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301		6	4	0	0	0	0.00198382	0	6	4				
KLK9	284366	broad.mit.edu	37	19	51507039	51507039	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:51507039C>T	ENST00000594211.1	-	4	524	c.524G>A	c.(523-525)tGt>tAt	p.C175Y	KLK8_ENST00000291726.7_5'Flank|KLK8_ENST00000593490.1_5'Flank|KLK8_ENST00000391806.2_5'Flank|KLK8_ENST00000600767.1_5'Flank|KLK8_ENST00000320838.5_5'Flank|KLK8_ENST00000347619.4_5'Flank|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000376832.4_Missense_Mutation_p.C175Y|KLK9_ENST00000250366.6_Missense_Mutation_p.C175Y			Q9UKQ9	KLK9_HUMAN	kallikrein-related peptidase 9	175	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		TGCCCAGTGACAGAGTTTGTT	0.567																																						ENST00000376832.4																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						c.(523-525)tGt>tAt		kallikrein-related peptidase 9							128.0	88.0	101.0					19																	51507039		2203	4300	6503	SO:0001583	missense	284366				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51507039C>T	AF135026	CCDS12816.1	19q13.33	2008-02-05	2006-10-27					"""Kallikreins"""	6370	protein-coding gene	gene with protein product		605504	"""kallikrein 9"""			16800724, 16800723	Standard	NM_012315		Approved	KLK-L3	uc002pux.1	Q9UKQ9		ENST00000594211.1:c.524G>A	19.37:g.51507039C>T	ENSP00000469417:p.Cys175Tyr					CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000594211.1_Missense_Mutation_p.C175Y|KLK9_ENST00000250366.6_Missense_Mutation_p.C175Y	p.C175Y	NM_012315.1	NP_036447.1	Q9UKQ9	KLK9_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)	4	557	-		all_neural(266;0.0652)	175			Peptidase S1.		Q6QA55	Missense_Mutation	SNP	ENST00000594211.1	37	c.524G>A	CCDS12816.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065632	0.55539	.	.	ENSG00000213022	ENST00000376832;ENST00000250366	D;D	0.96992	-4.2;-4.2	4.68	4.68	0.58851	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.98950	0.9643	H	0.98866	4.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98903	1.0777	9	0.87932	D	0	.	15.4784	0.75504	0.0:1.0:0.0:0.0	.	175;175	Q2XQG6;Q9UKQ9	.;KLK9_HUMAN	Y	175	ENSP00000366028:C175Y;ENSP00000250366:C175Y	ENSP00000250366:C175Y	C	-	2	0	KLK9	56198851	0.998000	0.40836	0.967000	0.41034	0.278000	0.26855	3.716000	0.54904	2.598000	0.87819	0.561000	0.74099	TGT		0.567	KLK9-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465226.1	NM_012315		21	35	0	0	0	0.00188189	0	21	35				
MKI67	4288	broad.mit.edu	37	10	129913444	129913444	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:129913444C>T	ENST00000368654.3	-	7	1603	c.1228G>A	c.(1228-1230)Gac>Aac	p.D410N	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	410					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTGGCAGAGTCAGCTGCATCT	0.438																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(1228-1230)Gac>Aac		marker of proliferation Ki-67							87.0	89.0	89.0					10																	129913444		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129913444C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1228G>A	10.37:g.129913444C>T	ENSP00000357643:p.Asp410Asn					MKI67_ENST00000368653.3_Intron	p.D410N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			7	1603	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	410					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.1228G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	0.846	-0.740147	0.03088	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.01474	4.85	4.16	-3.05	0.05396	.	2.609730	0.01101	N	0.005372	T	0.01029	0.0034	N	0.03608	-0.345	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.48399	-0.9039	10	0.87932	D	0	.	1.6358	0.02742	0.1618:0.4031:0.1937:0.2414	.	410	P46013	KI67_HUMAN	N	410	ENSP00000357643:D410N	ENSP00000357643:D410N	D	-	1	0	MKI67	129803434	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-2.291000	0.01147	-0.297000	0.08934	-0.302000	0.09304	GAC		0.438	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		32	58	0	0	0	0.00283554	0	32	58				
GRIN2A	2903	broad.mit.edu	37	16	9857768	9857768	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:9857768G>A	ENST00000396573.2	-	14	3942	c.3633C>T	c.(3631-3633)tcC>tcT	p.S1211S	GRIN2A_ENST00000562109.1_Silent_p.S1211S|GRIN2A_ENST00000404927.2_Silent_p.S1211S|GRIN2A_ENST00000535259.1_Silent_p.S1054S|GRIN2A_ENST00000396575.2_Silent_p.S1211S|GRIN2A_ENST00000330684.3_Silent_p.S1211S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1211					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGCAGTGCGTGGAGTTCTGCC	0.552																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(3631-3633)tcC>tcT		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						280.0	271.0	274.0					16																	9857768		2197	4300	6497	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857768G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3633C>T	16.37:g.9857768G>A						GRIN2A_ENST00000396575.2_Silent_p.S1211S|GRIN2A_ENST00000535259.1_Silent_p.S1054S|GRIN2A_ENST00000562109.1_Silent_p.S1211S|GRIN2A_ENST00000330684.3_Silent_p.S1211S|GRIN2A_ENST00000404927.2_Silent_p.S1211S	p.S1211S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3942	-			1211					O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.3633C>T	CCDS10539.1																																																																																				0.552	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			194	158	0	0	0	0.00361006	0	194	158				
PKHD1	5314	broad.mit.edu	37	6	51484071	51484071	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:51484071C>T	ENST00000371117.3	-	67	12308	c.12033G>A	c.(12031-12033)ctG>ctA	p.L4011L	RP3-335N17.2_ENST00000587000.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA|RP3-335N17.2_ENST00000454361.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	4011					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTGGCCTGCCAGCTGGTATC	0.567																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(12031-12033)ctG>ctA		polycystic kidney and hepatic disease 1 (autosomal recessive)							60.0	56.0	57.0					6																	51484071		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51484071C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.12033G>A	6.37:g.51484071C>T						RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.1_RNA	p.L4011L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			67	12308	-	Lung NSC(77;0.0605)		4011					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.12033G>A	CCDS4935.1																																																																																				0.567	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		30	43	0	0	0	0.00127121	0	30	43				
SON	6651	broad.mit.edu	37	21	34932435	34932435	+	Intron	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr21:34932435T>C	ENST00000356577.4	+	6	7132				SON_ENST00000300278.4_Nonstop_Mutation_p.*2304Q|SON_ENST00000290239.6_Intron|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein						cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ATTTTGGTGGTAGCAAATTTA	0.468																																						ENST00000300278.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(6910-6912)Tag>Cag		SON DNA binding protein							133.0	138.0	136.0					21																	34932435		2203	4300	6503	SO:0001627	intron_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34932435T>C	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6657+354T>C	21.37:g.34932435T>C						SON_ENST00000290239.6_Intron|AP000304.2_ENST00000439593.1_RNA|SON_ENST00000356577.4_Intron|SON_ENST00000381692.2_Intron	p.*2304Q	NM_032195.1	NP_115571.1	P18583	SON_HUMAN			7	6939	+			0					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Nonstop_Mutation	SNP	ENST00000356577.4	37	c.6910T>C	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	T	14.58	2.576868	0.45902	.	.	ENSG00000159140	ENST00000300278	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9101	0.52735	0.0:0.0:0.0:1.0	.	.	.	.	Q	2304	.	.	X	+	1	0	SON	33854305	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.640000	0.54350	2.073000	0.62155	0.383000	0.25322	TAG		0.468	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		3	175	0	0	0	0.000602214	0	3	175				
KLK8	11202	broad.mit.edu	37	19	51503433	51503433	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:51503433G>A	ENST00000600767.1	-	5	801	c.312C>T	c.(310-312)atC>atT	p.I104I	KLK8_ENST00000291726.7_Silent_p.I104I|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000391806.2_Silent_p.I149I|KLK8_ENST00000598195.1_5'Flank|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000347619.4_Intron|CTB-147C22.9_ENST00000594512.1_RNA			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	104	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		AGGGGTGTGGGATGGACTGAA	0.522																																						ENST00000600767.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15						c.(310-312)atC>atT		kallikrein-related peptidase 8							210.0	198.0	202.0					19																	51503433		2203	4300	6503	SO:0001819	synonymous_variant	11202				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51503433G>A	AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6369	protein-coding gene	gene with protein product		605644	"""kallikrein 8 (neuropsin/ovasin)"""	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.312C>T	19.37:g.51503433G>A						KLK8_ENST00000320838.5_Intron|KLK8_ENST00000593490.1_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000291726.7_Silent_p.I104I|KLK8_ENST00000391806.2_Silent_p.I149I	p.I104I			O60259	KLK8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)	5	801	-		all_neural(266;0.026)	104			Peptidase S1.		Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Silent	SNP	ENST00000600767.1	37	c.312C>T	CCDS12813.1																																																																																				0.522	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465032.2	NM_007196		54	62	0	0	0	0.00361006	0	54	62				
STX11	8676	broad.mit.edu	37	6	144507960	144507960	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:144507960G>T	ENST00000367568.4	+	2	379	c.196G>T	c.(196-198)Gga>Tga	p.G66*		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	66					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GAAGCGGCTGGGAAAGCAGAA	0.622									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(196-198)Gga>Tga		syntaxin 11							36.0	34.0	34.0					6																	144507960		2203	4300	6503	SO:0001587	stop_gained	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144507960G>T	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.196G>T	6.37:g.144507960G>T	ENSP00000356540:p.Gly66*						p.G66*	NM_003764.3	NP_003755.2	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	379	+			66					E1P598|O75378|O95148|Q5TCL6	Nonsense_Mutation	SNP	ENST00000367568.4	37	c.196G>T	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630287	0.67015	.	.	ENSG00000135604	ENST00000367568	.	.	.	5.99	5.13	0.70059	.	0.101493	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-21.6092	12.2331	0.54499	0.1396:0.0:0.8604:0.0	.	.	.	.	X	66	.	ENSP00000356540:G66X	G	+	1	0	STX11	144549653	1.000000	0.71417	0.999000	0.59377	0.069000	0.16628	7.707000	0.84623	1.549000	0.49425	-0.136000	0.14681	GGA		0.622	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			12	18	1	0	4.84862e-15	0.000978159	1.6046e-14	12	18				
PRKAR1A	5573	broad.mit.edu	37	17	66511665	66511665	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:66511665G>T	ENST00000589228.1	+	2	253	c.125G>T	c.(124-126)cGa>cTa	p.R42L	PRKAR1A_ENST00000586397.1_Missense_Mutation_p.R42L|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.R42L|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.R42L|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.R42L|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.R42L	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	42	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					TGCACTGCTCGACCTGAGAGA	0.473			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	ENST00000589228.1			yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	"""T, Mis, N, F, S"""	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""			"""E, M"""	RET	"""myxoma, endocrine, papillary thyroid"""	papillary thyroid		0				adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31						c.(124-126)cGa>cTa		protein kinase, cAMP-dependent, regulatory, type I, alpha							74.0	62.0	66.0					17																	66511665		2203	4300	6503	SO:0001583	missense	5573	Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding	g.chr17:66511665G>T		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.125G>T	17.37:g.66511665G>T	ENSP00000464977:p.Arg42Leu					PRKAR1A_ENST00000588188.2_Missense_Mutation_p.R42L|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.R42L|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.R42L|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.R42L|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.R42L	p.R42L	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN			2	253	+	Breast(10;1.64e-13)		42			Dimerization and phosphorylation.		K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	37	c.125G>T	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597952	0.66332	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	5.1	5.1	0.69264	cAMP-dependent protein kinase, regulatory subunit, type I/II alpha/beta (3);	0.000000	0.85682	D	0.000000	T	0.80706	0.4674	M	0.68317	2.08	0.51767	D	0.999935	P;P	0.35844	0.524;0.524	B;B	0.40602	0.334;0.334	T	0.82544	-0.0404	10	0.72032	D	0.01	-16.8484	11.9385	0.52886	0.0801:0.0:0.9199:0.0	.	42;42	B2R5T5;P10644	.;KAP0_HUMAN	L	42	ENSP00000351410:R42L;ENSP00000376475:R42L;ENSP00000376474:R42L;ENSP00000445625:R42L	ENSP00000351410:R42L	R	+	2	0	PRKAR1A	64023260	0.999000	0.42202	0.032000	0.17829	0.890000	0.51754	6.843000	0.75384	2.362000	0.80069	0.650000	0.86243	CGA		0.473	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1			13	17	1	0	4.7546e-09	0.00400662	1.41692e-08	13	17				
KRTAP5-3	387266	broad.mit.edu	37	11	1629195	1629195	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:1629195A>G	ENST00000399685.1	-	1	498	c.421T>C	c.(421-423)Tgt>Cgt	p.C141R		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	141	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GATGACCCACAGCCTGAGGAG	0.632																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(421-423)Tgt>Cgt		keratin associated protein 5-3							87.0	105.0	99.0					11																	1629195		2200	4297	6497	SO:0001583	missense	387266					keratin filament		g.chr11:1629195A>G	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.421T>C	11.37:g.1629195A>G	ENSP00000382592:p.Cys141Arg						p.C141R	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	498	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	141			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.421T>C	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	A	9.739	1.164358	0.21538	.	.	ENSG00000196224	ENST00000399685	T	0.01185	5.21	3.47	3.47	0.39725	.	.	.	.	.	T	0.06188	0.0160	M	0.92077	3.27	0.22034	N	0.999402	D	0.59767	0.986	P	0.53722	0.733	T	0.10154	-1.0642	9	0.87932	D	0	.	10.2451	0.43336	1.0:0.0:0.0:0.0	.	141	Q6L8H2	KRA53_HUMAN	R	141	ENSP00000382592:C141R	ENSP00000382592:C141R	C	-	1	0	KRTAP5-3	1585771	0.898000	0.30612	0.012000	0.15200	0.683000	0.39861	4.093000	0.57714	1.370000	0.46153	0.248000	0.18094	TGT		0.632	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			96	150	0	0	0	0.00361006	0	96	150				
DHX16	8449	broad.mit.edu	37	6	30627269	30627269	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:30627269T>A	ENST00000376442.3	-	12	2182	c.1987A>T	c.(1987-1989)Aca>Tca	p.T663S	DHX16_ENST00000376437.5_Missense_Mutation_p.T182S|DHX16_ENST00000480966.1_5'UTR	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	663	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						CCAGGTGGTGTGGGCTGGAAG	0.582																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(1987-1989)Aca>Tca		DEAH (Asp-Glu-Ala-His) box polypeptide 16							49.0	48.0	48.0					6																	30627269		1510	2708	4218	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30627269T>A	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1987A>T	6.37:g.30627269T>A	ENSP00000365625:p.Thr663Ser					DHX16_ENST00000480966.1_5'UTR|DHX16_ENST00000376437.5_Missense_Mutation_p.T182S	p.T663S	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			12	2182	-			663			Helicase C-terminal.		O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.1987A>T	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.295582	0.81025	.	.	ENSG00000204560	ENST00000376442;ENST00000376437	T;T	0.75050	-0.9;-0.9	4.7	4.7	0.59300	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.79557	0.4466	L	0.57130	1.785	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.988;0.993	D;D;D	0.83275	0.996;0.925;0.949	T	0.81881	-0.0729	10	0.62326	D	0.03	.	13.5695	0.61838	0.0:0.0:0.0:1.0	.	603;663;182	B4DZ28;O60231;Q5SQH5	.;DHX16_HUMAN;.	S	663;182	ENSP00000365625:T663S;ENSP00000365620:T182S	ENSP00000365620:T182S	T	-	1	0	DHX16	30735248	0.995000	0.38212	0.986000	0.45419	0.912000	0.54170	2.069000	0.41481	2.111000	0.64477	0.374000	0.22700	ACA		0.582	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		9	7	0	0	0	0.000442599	0	9	7				
ILDR2	387597	broad.mit.edu	37	1	166927159	166927159	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:166927159G>T	ENST00000271417.3	-	2	281	c.226C>A	c.(226-228)Cgg>Agg	p.R76R	ILDR2_ENST00000525740.1_Silent_p.R76R|ILDR2_ENST00000526687.1_Silent_p.R76R|ILDR2_ENST00000529071.1_Silent_p.R76R|ILDR2_ENST00000528703.1_Silent_p.R76R|ILDR2_ENST00000469934.2_Silent_p.R76R|ILDR2_ENST00000529387.1_Silent_p.R76R	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	76	Ig-like V-type.				cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GATTGGGCCCGGGTAGAGGAC	0.532																																						ENST00000271417.3																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(226-228)Cgg>Agg		immunoglobulin-like domain containing receptor 2							126.0	115.0	119.0					1																	166927159		2203	4300	6503	SO:0001819	synonymous_variant	387597					integral to membrane		g.chr1:166927159G>T	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.226C>A	1.37:g.166927159G>T						ILDR2_ENST00000529387.1_Silent_p.R76R|ILDR2_ENST00000469934.2_Silent_p.R76R|ILDR2_ENST00000526687.1_Silent_p.R76R|ILDR2_ENST00000525740.1_Silent_p.R76R|ILDR2_ENST00000529071.1_Silent_p.R76R|ILDR2_ENST00000528703.1_Silent_p.R76R	p.R76R	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN			2	281	-			76			Ig-like V-type.			Silent	SNP	ENST00000271417.3	37	c.226C>A	CCDS1256.1																																																																																				0.532	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		39	71	1	0	7.05121e-23	0.0025221	2.50663e-22	39	71				
GRM1	2911	broad.mit.edu	37	6	146720539	146720539	+	Silent	SNP	G	G	C	rs114187147	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:146720539G>C	ENST00000282753.1	+	7	2599	c.2364G>C	c.(2362-2364)gcG>gcC	p.A788A	GRM1_ENST00000355289.4_Silent_p.A788A|GRM1_ENST00000507907.1_Silent_p.A788A|GRM1_ENST00000392299.2_Silent_p.A788A|GRM1_ENST00000492807.2_Silent_p.A788A|GRM1_ENST00000361719.2_Silent_p.A788A			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	788					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		AATATATCGCGTTCACCATGT	0.488													C|||	10	0.00199681	0.0076	0.0	5008	,	,		22937	0.0		0.0	False		,,,				2504	0.0					ENST00000392299.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2362-2364)gcG>gcC		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	C	,	46,4360	822.2+/-416.4	0,46,2157	188.0	158.0	168.0		2364,2364	3.6	1.0	6	dbSNP_132	168	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GRM1	NM_000838.3,NM_001114329.1	,	0,46,6457	CC,CG,GG		0.0,1.044,0.3537	,	788/1195,788/907	146720539	46,12960	2203	4300	6503	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720539G>C	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2364G>C	6.37:g.146720539G>C						GRM1_ENST00000355289.4_Silent_p.A788A|GRM1_ENST00000507907.1_Silent_p.A788A|GRM1_ENST00000282753.1_Silent_p.A788A|GRM1_ENST00000361719.2_Silent_p.A788A|GRM1_ENST00000492807.2_Silent_p.A788A	p.A788A			Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2834	+		Ovarian(120;0.0387)	788					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.2364G>C	CCDS5209.1																																																																																				0.488	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		48	73	0	0	0	0.00361006	0	48	73				
CENPI	2491	broad.mit.edu	37	X	100417906	100417906	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:100417906C>T	ENST00000372927.1	+	21	2498	c.2221C>T	c.(2221-2223)Cat>Tat	p.H741Y	CENPI_ENST00000423383.1_Missense_Mutation_p.H741Y|CENPI_ENST00000218507.5_Missense_Mutation_p.H727Y	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	741					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TAGTGTTCATCATTCTTCCAT	0.378																																						ENST00000372927.1																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						c.(2221-2223)Cat>Tat		centromere protein I							124.0	115.0	118.0					X																	100417906		2203	4300	6503	SO:0001583	missense	2491				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	g.chrX:100417906C>T	X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.2221C>T	X.37:g.100417906C>T	ENSP00000362018:p.His741Tyr					CENPI_ENST00000423383.1_Missense_Mutation_p.H741Y|CENPI_ENST00000218507.5_Missense_Mutation_p.H727Y	p.H741Y	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN			21	2498	+			741					Q5JWZ9|Q96ED0	Missense_Mutation	SNP	ENST00000372927.1	37	c.2221C>T	CCDS14479.1	.	.	.	.	.	.	.	.	.	.	c	10.28	1.306942	0.23821	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372927	.	.	.	5.2	4.33	0.51752	.	1.087340	0.06920	N	0.809245	T	0.27663	0.0680	L	0.27053	0.805	0.22292	N	0.999225	P;P	0.37781	0.608;0.608	B;B	0.31016	0.123;0.085	T	0.23261	-1.0193	9	0.62326	D	0.03	0.2864	11.4904	0.50377	0.1798:0.8202:0.0:0.0	.	727;741	B4DZL4;Q92674	.;CENPI_HUMAN	Y	741;727;741	.	ENSP00000218507:H727Y	H	+	1	0	CENPI	100304562	0.329000	0.24696	0.079000	0.20413	0.455000	0.32408	0.754000	0.26390	1.069000	0.40788	0.597000	0.82753	CAT		0.378	CENPI-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057519.1	NM_006733		39	49	0	0	0	0.000953801	0	39	49				
OR8K3	219473	broad.mit.edu	37	11	56086244	56086244	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:56086244C>A	ENST00000312711.1	+	1	462	c.462C>A	c.(460-462)ttC>ttA	p.F154L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATTGCACATTCATTTCTCTTC	0.418																																						ENST00000312711.1																			0				central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(460-462)ttC>ttA		olfactory receptor, family 8, subfamily K, member 3							119.0	119.0	119.0					11																	56086244		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56086244C>A	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.462C>A	11.37:g.56086244C>A	ENSP00000323555:p.Phe154Leu						p.F154L	NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN			1	462	+	Esophageal squamous(21;0.00448)		154					Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.462C>A	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	C	0.940	-0.709989	0.03230	.	.	ENSG00000181689	ENST00000312711	T	0.29142	1.58	4.56	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.421413	0.23039	N	0.052623	T	0.08447	0.0210	N	0.02391	-0.57	0.09310	N	1	B	0.14805	0.011	B	0.20577	0.03	T	0.35919	-0.9769	10	0.02654	T	1	.	2.03	0.03527	0.1501:0.1023:0.1547:0.593	.	154	Q8NH51	OR8K3_HUMAN	L	154	ENSP00000323555:F154L	ENSP00000323555:F154L	F	+	3	2	OR8K3	55842820	0.000000	0.05858	0.077000	0.20336	0.001000	0.01503	-1.820000	0.01714	0.747000	0.32809	-0.242000	0.12053	TTC		0.418	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		45	64	1	0	7.05121e-23	0.0025221	2.50663e-22	45	64				
KLHL1	57626	broad.mit.edu	37	13	70281880	70281880	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr13:70281880C>A	ENST00000377844.4	-	10	2823	c.2064G>T	c.(2062-2064)atG>atT	p.M688I	KLHL1_ENST00000545028.1_Missense_Mutation_p.M495I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	688					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CATCTCTGGGCATACTCAAAG	0.408																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(2062-2064)atG>atT		kelch-like family member 1							129.0	108.0	115.0					13																	70281880		2203	4299	6502	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70281880C>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.2064G>T	13.37:g.70281880C>A	ENSP00000367075:p.Met688Ile					KLHL1_ENST00000545028.1_Missense_Mutation_p.M495I	p.M688I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	10	2823	-		Breast(118;0.000162)	688					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.2064G>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	7.721	0.697213	0.15106	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.65364	-0.15;-0.15	5.43	5.43	0.79202	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	N	0.11106	0.095	0.36422	D	0.864378	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.37776	-0.9691	10	0.06236	T	0.91	.	12.9084	0.58166	0.0:0.9256:0.0:0.0744	.	688;688	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	I	688;495	ENSP00000367075:M688I;ENSP00000439602:M495I	ENSP00000367075:M688I	M	-	3	0	KLHL1	69179881	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.853000	0.39358	2.710000	0.92621	0.650000	0.86243	ATG		0.408	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		29	6	1	0	3.57733e-08	0.00178596	1.0402e-07	29	6				
ZNF273	10793	broad.mit.edu	37	7	64388382	64388382	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:64388382A>G	ENST00000476120.1	+	4	747	c.676A>G	c.(676-678)Aaa>Gaa	p.K226E	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.K161E	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TCAGCATAAGAAAACTGCTAC	0.313																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)	ENST00000476120.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(676-678)Aaa>Gaa		zinc finger protein 273							68.0	75.0	73.0					7																	64388382		2203	4297	6500	SO:0001583	missense	10793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64388382A>G	X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"""Zinc fingers, C2H2-type"", ""-"""	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.676A>G	7.37:g.64388382A>G	ENSP00000418719:p.Lys226Glu					ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.K161E	p.K226E	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN			4	747	+		Lung NSC(55;0.0295)|all_lung(88;0.0691)	226					B3KQZ5|Q6P3V4	Missense_Mutation	SNP	ENST00000476120.1	37	c.676A>G	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	9.009	0.982010	0.18812	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.16324	2.35;2.35	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17492	0.0420	L	0.58354	1.805	0.09310	N	0.999994	B	0.23806	0.091	B	0.29440	0.102	T	0.28554	-1.0040	9	0.52906	T	0.07	.	5.7517	0.18150	1.0:0.0:0.0:0.0	.	226	Q14593	ZN273_HUMAN	E	226;161	ENSP00000418719:K226E;ENSP00000324518:K161E	ENSP00000324518:K161E	K	+	1	0	ZNF273	64025817	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.165000	0.09968	0.175000	0.19841	0.172000	0.16884	AAA		0.313	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1			36	32	0	0	0	0.00148497	0	36	32				
NCKAP1	10787	broad.mit.edu	37	2	183818048	183818048	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:183818048C>A	ENST00000361354.4	-	21	2537	c.2165G>T	c.(2164-2166)gGg>gTg	p.G722V	NCKAP1_ENST00000360982.2_Missense_Mutation_p.G728V	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	722					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CATAGTCATCCCAACAATTGA	0.363																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(2182-2184)gGg>gTg		NCK-associated protein 1							104.0	97.0	99.0					2																	183818048		2203	4300	6503	SO:0001583	missense	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183818048C>A	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.2165G>T	2.37:g.183818048C>A	ENSP00000355348:p.Gly722Val					NCKAP1_ENST00000361354.3_Missense_Mutation_p.G722V	p.G728V	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		22	2941	-			722					O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	ENST00000361354.4	37	c.2183G>T	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723523	0.89298	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.30981	1.51;1.51	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.45657	0.1353	M	0.77820	2.39	0.80722	D	1	P;P	0.46395	0.877;0.851	P;B	0.45232	0.474;0.343	T	0.46020	-0.9221	10	0.51188	T	0.08	-14.9115	20.1551	0.98106	0.0:1.0:0.0:0.0	.	722;728	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	V	722;728	ENSP00000355348:G722V;ENSP00000354251:G728V	ENSP00000354251:G728V	G	-	2	0	NCKAP1	183526293	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.760000	0.94817	0.655000	0.94253	GGG		0.363	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		15	27	1	0	4.7546e-09	0.00400662	1.41692e-08	15	27				
ACADL	33	broad.mit.edu	37	2	211057583	211057583	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:211057583C>A	ENST00000233710.3	-	10	1371	c.1144G>T	c.(1144-1146)Gac>Tac	p.D382Y	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	382					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TGTACACAGTCGTAAGCTACA	0.373																																						ENST00000233710.3																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						c.(1144-1146)Gac>Tac		acyl-CoA dehydrogenase, long chain							94.0	84.0	87.0					2																	211057583		2203	4300	6503	SO:0001583	missense	33				carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity	g.chr2:211057583C>A	M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"""acyl-Coenzyme A dehydrogenase, long chain"""			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.1144G>T	2.37:g.211057583C>A	ENSP00000233710:p.Asp382Tyr					AC006994.2_ENST00000412065.1_RNA	p.D382Y	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)	10	1371	-		Renal(323;0.202)	382					B2R8T3|Q8IUN8	Missense_Mutation	SNP	ENST00000233710.3	37	c.1144G>T	CCDS2389.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714604	0.68730	.	.	ENSG00000115361	ENST00000233710	D	0.96459	-4.02	6.03	4.2	0.49525	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.322527	0.38005	N	0.001846	D	0.95111	0.8416	M	0.73430	2.235	0.28321	N	0.922256	P	0.36577	0.558	B	0.37601	0.254	D	0.92363	0.5899	10	0.87932	D	0	.	10.8969	0.47027	0.0:0.5588:0.3694:0.0718	.	382	P28330	ACADL_HUMAN	Y	382	ENSP00000233710:D382Y	ENSP00000233710:D382Y	D	-	1	0	ACADL	210765828	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.589000	0.46145	1.533000	0.49186	0.655000	0.94253	GAC		0.373	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	NM_001608		8	23	1	0	0.00307968	0.00307968	0.00791729	8	23				
SHROOM4	57477	broad.mit.edu	37	X	50377848	50377848	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:50377848G>C	ENST00000289292.7	-	4	1508	c.1225C>G	c.(1225-1227)Cgc>Ggc	p.R409G	SHROOM4_ENST00000376020.2_Missense_Mutation_p.R409G|SHROOM4_ENST00000460112.3_Missense_Mutation_p.R293G			Q9ULL8	SHRM4_HUMAN	shroom family member 4	409					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCACTATGGCGATGCCCTGTG	0.572																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1225-1227)Cgc>Ggc		shroom family member 4							38.0	25.0	29.0					X																	50377848		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50377848G>C	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.1225C>G	X.37:g.50377848G>C	ENSP00000289292:p.Arg409Gly					SHROOM4_ENST00000460112.3_Missense_Mutation_p.R293G|SHROOM4_ENST00000289292.7_Missense_Mutation_p.R409G	p.R409G	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	1250	-	Ovarian(276;0.236)		409					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.1225C>G	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690626	0.29962	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.46451	0.87;0.87;0.87	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	T	0.60945	0.2308	M	0.65975	2.015	0.44214	D	0.997046	D	0.89917	1.0	D	0.70716	0.97	T	0.60459	-0.7259	10	0.42905	T	0.14	.	14.4688	0.67501	0.0:0.0:1.0:0.0	.	409	Q9ULL8	SHRM4_HUMAN	G	409;409;293	ENSP00000289292:R409G;ENSP00000365188:R409G;ENSP00000421450:R293G	ENSP00000289292:R409G	R	-	1	0	SHROOM4	50394588	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.868000	0.48436	2.392000	0.81423	0.600000	0.82982	CGC		0.572	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		10	5	0	0	0	0.000442599	0	10	5				
RYR2	6262	broad.mit.edu	37	1	237942010	237942010	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:237942010G>T	ENST00000366574.2	+	88	12137	c.11820G>T	c.(11818-11820)ctG>ctT	p.L3940L	RYR2_ENST00000360064.6_Silent_p.L3946L|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Silent_p.L3924L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3940					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAGCAGGCTGTGGGATGCTG	0.443																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(11818-11820)ctG>ctT		ryanodine receptor 2 (cardiac)							109.0	108.0	108.0					1																	237942010		1909	4122	6031	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237942010G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11820G>T	1.37:g.237942010G>T						RYR2_ENST00000542537.1_Silent_p.L3924L|RYR2_ENST00000360064.6_Silent_p.L3946L	p.L3940L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		88	12137	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3940					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.11820G>T	CCDS55691.1																																																																																				0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		27	43	1	0	3.57733e-08	0.00178596	1.0402e-07	27	43				
RBM4	5936	broad.mit.edu	37	11	66407340	66407340	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:66407340G>A	ENST00000409406.1	+	1	935	c.158G>A	c.(157-159)cGc>cAc	p.R53H	RBM4_ENST00000530235.1_Missense_Mutation_p.R53H|RBM4_ENST00000396053.4_Missense_Mutation_p.R53H|RBM4_ENST00000483858.1_Missense_Mutation_p.R53H|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000503028.2_Missense_Mutation_p.R53H|RBM4_ENST00000578778.1_Missense_Mutation_p.R53H|RBM4_ENST00000506523.2_Missense_Mutation_p.R53H|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000532968.1_Missense_Mutation_p.R53H|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000408993.2_Missense_Mutation_p.R53H|RBM4_ENST00000310092.7_Missense_Mutation_p.R53H|RBM4_ENST00000398692.4_Missense_Mutation_p.R53H			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	53	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R53H(1)		endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		GATGCCATACGCAACCTGCAC	0.468																																						ENST00000409406.1																			1	Substitution - Missense(1)	p.R53H(1)	large_intestine(1)	endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(157-159)cGc>cAc		RNA binding motif protein 4							127.0	124.0	125.0					11																	66407340		2200	4292	6492	SO:0001583	missense	5936							g.chr11:66407340G>A	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.158G>A	11.37:g.66407340G>A	ENSP00000386894:p.Arg53His					RBM4_ENST00000532968.1_Missense_Mutation_p.R53H|RBM4_ENST00000310092.7_Missense_Mutation_p.R53H|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000530235.1_Missense_Mutation_p.R53H|RBM4_ENST00000396053.4_Missense_Mutation_p.R53H|RBM4_ENST00000398692.4_Missense_Mutation_p.R53H|RBM4_ENST00000578778.1_Missense_Mutation_p.R53H|RBM4_ENST00000483858.1_Missense_Mutation_p.R53H|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000506523.2_Missense_Mutation_p.R53H|RBM4_ENST00000408993.2_Missense_Mutation_p.R53H|RBM4_ENST00000503028.2_Missense_Mutation_p.R53H	p.R53H						Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)	1	935	+								B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	ENST00000409406.1	37	c.158G>A	CCDS41676.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754948	0.49362	.	.	ENSG00000248643;ENSG00000248643;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933;ENSG00000173933	ENST00000503028;ENST00000514361;ENST00000310092;ENST00000396053;ENST00000408993;ENST00000483858;ENST00000398692;ENST00000510173;ENST00000506523;ENST00000530235;ENST00000532968;ENST00000409406	T;T;T;T;T;T;T;T;T;T;T	0.17370	2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28;2.28	4.81	4.81	0.61882	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.212294	0.42172	U	0.000753	T	0.13756	0.0333	.	.	.	0.38944	D	0.958203	B;B;B;B	0.27286	0.081;0.003;0.105;0.174	B;B;B;B	0.26969	0.016;0.008;0.075;0.03	T	0.06320	-1.0833	9	0.45353	T	0.12	-4.5677	9.4553	0.38751	0.0971:0.0:0.9029:0.0	.	53;53;53;53	E7EQS3;Q9BWF3-3;Q9BWF3;Q9BWF3-2	.;.;RBM4_HUMAN;.	H	53	ENSP00000425760:R53H;ENSP00000309166:R53H;ENSP00000413497:R53H;ENSP00000386561:R53H;ENSP00000435821:R53H;ENSP00000381680:R53H;ENSP00000422301:R53H;ENSP00000423572:R53H;ENSP00000432150:R53H;ENSP00000432020:R53H;ENSP00000386894:R53H	ENSP00000425760:R53H	R	+	2	0	RBM4;RBM14-RBM4	66163916	0.999000	0.42202	0.986000	0.45419	0.993000	0.82548	3.930000	0.56522	2.411000	0.81874	0.549000	0.68633	CGC		0.468	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896		58	116	0	0	0	0.00361006	0	58	116				
PARP11	57097	broad.mit.edu	37	12	3939117	3939117	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:3939117G>T	ENST00000228820.4	-	2	230	c.86C>A	c.(85-87)aCg>aAg	p.T29K	PARP11_ENST00000447133.3_5'UTR|PARP11_ENST00000397096.2_Missense_Mutation_p.T22K|PARP11_ENST00000427057.2_5'UTR	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	22	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GGTATCTGACGTGTCCATGTC	0.413																																						ENST00000228820.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17						c.(85-87)aCg>aAg		poly (ADP-ribose) polymerase family, member 11							180.0	160.0	167.0					12																	3939117		2203	4300	6503	SO:0001583	missense	57097						NAD+ ADP-ribosyltransferase activity	g.chr12:3939117G>T	AF263540	CCDS8523.2, CCDS66281.1	12p13.3	2014-01-28	2004-08-25	2004-08-26	ENSG00000111224	ENSG00000111224		"""Poly (ADP-ribose) polymerases"""	1186	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 6"""	C12orf6		15273990	Standard	NM_001286522		Approved		uc001qml.2	Q9NR21	OTTHUMG00000156442	ENST00000228820.4:c.86C>A	12.37:g.3939117G>T	ENSP00000228820:p.Thr29Lys					PARP11_ENST00000427057.2_5'UTR|PARP11_ENST00000397096.2_Missense_Mutation_p.T22K|PARP11_ENST00000447133.3_5'UTR	p.T29K	NM_020367.4	NP_065100.2	Q9NR21	PAR11_HUMAN	all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)		2	230	-			22			WWE.		B4DRQ0|Q68DS1|Q8N5Y9	Missense_Mutation	SNP	ENST00000228820.4	37	c.86C>A	CCDS8523.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.353574|4.353574	0.82243|0.82243	.|.	.|.	ENSG00000111224|ENSG00000111224	ENST00000450737|ENST00000397096;ENST00000228820	.|T;T	.|0.28666	.|1.6;1.6	5.52|5.52	5.52|5.52	0.82312|0.82312	.|WWE domain (1);	.|0.049144	.|0.85682	.|D	.|0.000000	T|T	0.44138|0.44138	0.1279|0.1279	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.72982	.|0.964;0.979	T|T	0.09164|0.09164	-1.0687|-1.0687	6|10	0.87932|0.30854	D|T	0|0.27	.|.	10.2001|10.2001	0.43077|0.43077	0.0872:0.0:0.9128:0.0|0.0872:0.0:0.9128:0.0	.|.	.|29;22	.|Q9NR21-4;Q9NR21	.|.;PAR11_HUMAN	S|K	8|22;29	.|ENSP00000380284:T22K;ENSP00000228820:T29K	ENSP00000387481:R8S|ENSP00000228820:T29K	R|T	-|-	1|2	0|0	PARP11|PARP11	3809378|3809378	1.000000|1.000000	0.71417|0.71417	0.971000|0.971000	0.41717|0.41717	0.876000|0.876000	0.50452|0.50452	6.956000|6.956000	0.76013|0.76013	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	CGT|ACG		0.413	PARP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344213.1			54	93	1	0	3.07002e-29	0.00361006	1.14576e-28	54	93				
INSC	387755	broad.mit.edu	37	11	15260557	15260557	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:15260557G>C	ENST00000379554.3	+	11	1517	c.1471G>C	c.(1471-1473)Gca>Cca	p.A491P	INSC_ENST00000525218.1_Missense_Mutation_p.A402P|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_Missense_Mutation_p.A444P|INSC_ENST00000379556.3_Missense_Mutation_p.A444P|INSC_ENST00000530161.1_Missense_Mutation_p.A444P|INSC_ENST00000424273.1_Missense_Mutation_p.A402P	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	491					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GCAGAAAGCTGCAGTGACCCT	0.607																																						ENST00000379554.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1471-1473)Gca>Cca		inscuteable homolog (Drosophila)							55.0	57.0	56.0					11																	15260557		2068	4196	6264	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15260557G>C	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1471G>C	11.37:g.15260557G>C	ENSP00000368872:p.Ala491Pro					INSC_ENST00000379556.3_Missense_Mutation_p.A444P|INSC_ENST00000530161.1_Missense_Mutation_p.A444P|INSC_ENST00000528567.1_Missense_Mutation_p.A444P|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000424273.1_Missense_Mutation_p.A402P|INSC_ENST00000525218.1_Missense_Mutation_p.A402P	p.A491P	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN			11	1517	+			491					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.1471G>C	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	G	33	5.234618	0.95207	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48	5.66	5.66	0.87406	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71426	0.3338	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.72404	-0.4304	10	0.72032	D	0.01	-10.0735	19.7365	0.96208	0.0:0.0:1.0:0.0	.	479;402;444;491	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	P	491;444;402;444;444;402	ENSP00000368872:A491P;ENSP00000368874:A444P;ENSP00000389161:A402P;ENSP00000435022:A444P;ENSP00000436194:A444P;ENSP00000436113:A402P	ENSP00000368872:A491P	A	+	1	0	INSC	15217133	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.022000	0.93678	2.672000	0.90937	0.655000	0.94253	GCA		0.607	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		14	27	0	0	0	0.00185496	0	14	27				
ERO1L	30001	broad.mit.edu	37	14	53130549	53130549	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:53130549T>C	ENST00000395686.3	-	8	869	c.646A>G	c.(646-648)Aga>Gga	p.R216G		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	216					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					TTTAAAGGTCTTTTAATTGTC	0.318																																						ENST00000395686.3																		ERO1L/FERMT2(2)	0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12						c.(646-648)Aga>Gga		ERO1-like (S. cerevisiae)							63.0	67.0	65.0					14																	53130549		2202	4300	6502	SO:0001583	missense	30001				chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor	g.chr14:53130549T>C	AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"""ERO1 (S. cerevisiae)-like"""			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.646A>G	14.37:g.53130549T>C	ENSP00000379042:p.Arg216Gly						p.R216G	NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN			8	869	-	Breast(41;0.226)		216					A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Missense_Mutation	SNP	ENST00000395686.3	37	c.646A>G	CCDS9709.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.344389	0.82022	.	.	ENSG00000197930	ENST00000395686	T	0.43688	0.94	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	M	0.74258	2.255	0.80722	D	1	B	0.14012	0.009	B	0.17979	0.02	T	0.38222	-0.9671	10	0.36615	T	0.2	-16.3062	16.0592	0.80826	0.0:0.0:0.0:1.0	.	216	Q96HE7	ERO1A_HUMAN	G	216	ENSP00000379042:R216G	ENSP00000379042:R216G	R	-	1	2	ERO1L	52200299	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.482000	0.45224	2.333000	0.79357	0.533000	0.62120	AGA		0.318	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1	NM_014584		2	14	0	0	0	6.4e-05	0	2	14				
CDH2	1000	broad.mit.edu	37	18	25591835	25591835	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:25591835C>A	ENST00000269141.3	-	4	944	c.521G>T	c.(520-522)gGa>gTa	p.G174V	CDH2_ENST00000399380.3_Missense_Mutation_p.G143V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	174	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGGAAAAGGTCCCCTGGAGTT	0.408																																						ENST00000269141.3																			0				NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(520-522)gGa>gTa		cadherin 2, type 1, N-cadherin (neuronal)							158.0	149.0	152.0					18																	25591835		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25591835C>A	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.521G>T	18.37:g.25591835C>A	ENSP00000269141:p.Gly174Val					CDH2_ENST00000399380.3_Missense_Mutation_p.G143V	p.G174V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			4	944	-			174			Cadherin 1.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.521G>T	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603640	0.87157	.	.	ENSG00000170558	ENST00000269141;ENST00000399380;ENST00000418492;ENST00000430882	T;T;T;T	0.77358	-1.09;-1.09;-1.09;0.11	5.93	5.93	0.95920	Cadherin (2);Cadherin-like (2);	0.105732	0.64402	D	0.000003	D	0.89983	0.6873	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.935;0.994	D	0.90410	0.4409	10	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	143;174	A8MWK3;P19022	.;CADH2_HUMAN	V	174;143;123;89	ENSP00000269141:G174V;ENSP00000382312:G143V;ENSP00000411360:G123V;ENSP00000412120:G89V	ENSP00000269141:G174V	G	-	2	0	CDH2	23845833	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.826000	0.97356	0.655000	0.94253	GGA		0.408	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		45	176	1	0	2.24722e-20	0.00361006	7.80339e-20	45	176				
RUNX1T1	862	broad.mit.edu	37	8	93003886	93003886	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:93003886C>T	ENST00000523629.1	-	7	1426	c.972G>A	c.(970-972)agG>agA	p.R324R	RUNX1T1_ENST00000422361.2_Silent_p.R287R|RUNX1T1_ENST00000520724.1_Silent_p.R287R|RUNX1T1_ENST00000518844.1_Silent_p.R297R|RUNX1T1_ENST00000360348.2_Silent_p.R287R|RUNX1T1_ENST00000396218.1_Silent_p.R297R|RUNX1T1_ENST00000265814.3_Silent_p.R324R|RUNX1T1_ENST00000436581.2_Silent_p.R335R	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	324					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGTTTCTGTCCCTGAGGTCCC	0.512																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(970-972)agG>agA		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							188.0	177.0	181.0					8																	93003886		2203	4300	6503	SO:0001819	synonymous_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93003886C>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.972G>A	8.37:g.93003886C>T						RUNX1T1_ENST00000518844.1_Silent_p.R297R|RUNX1T1_ENST00000422361.2_Silent_p.R287R|RUNX1T1_ENST00000436581.2_Silent_p.R335R|RUNX1T1_ENST00000396218.1_Silent_p.R297R|RUNX1T1_ENST00000360348.2_Silent_p.R287R|RUNX1T1_ENST00000265814.3_Silent_p.R324R|RUNX1T1_ENST00000520724.1_Silent_p.R287R	p.R324R	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		7	1426	-			324					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	c.972G>A	CCDS6256.1																																																																																				0.512	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		51	107	0	0	0	0.00361006	0	51	107				
ZSWIM5	57643	broad.mit.edu	37	1	45506091	45506091	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:45506091G>A	ENST00000359600.5	-	7	1934	c.1729C>T	c.(1729-1731)Ctg>Ttg	p.L577L		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	577						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TAGATTTCCAGTTGCCGCTGC	0.502																																						ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(1729-1731)Ctg>Ttg		zinc finger, SWIM-type containing 5							104.0	95.0	98.0					1																	45506091		1872	4114	5986	SO:0001819	synonymous_variant	57643						zinc ion binding	g.chr1:45506091G>A	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.1729C>T	1.37:g.45506091G>A							p.L577L	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN			7	1934	-	Acute lymphoblastic leukemia(166;0.155)		577					Q5SXQ9	Silent	SNP	ENST00000359600.5	37	c.1729C>T	CCDS41319.1																																																																																				0.502	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		46	46	0	0	0	0.00361006	0	46	46				
DDX18	8886	broad.mit.edu	37	2	118582663	118582663	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:118582663G>T	ENST00000263239.2	+	9	1482	c.1354G>T	c.(1354-1356)Gtc>Ttc	p.V452F		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	452	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.V452I(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGATTTGCCCGTCTTGGCCAT	0.388																																						ENST00000263239.2																			1	Substitution - Missense(1)	p.V452I(1)	prostate(1)	breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1354-1356)Gtc>Ttc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							147.0	146.0	146.0					2																	118582663		2203	4300	6503	SO:0001583	missense	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118582663G>T	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1354G>T	2.37:g.118582663G>T	ENSP00000263239:p.Val452Phe						p.V452F	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN			9	1482	+			452			Helicase C-terminal.		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	c.1354G>T	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725645	0.89298	.	.	ENSG00000088205	ENST00000263239;ENST00000539346;ENST00000415038	T;T	0.77620	-1.11;-1.11	5.17	5.17	0.71159	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.85146	0.5630	L	0.48642	1.525	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.86274	0.1663	10	0.72032	D	0.01	-1.6581	19.0359	0.92978	0.0:0.0:1.0:0.0	.	452	Q9NVP1	DDX18_HUMAN	F	452;191;116	ENSP00000263239:V452F;ENSP00000415604:V116F	ENSP00000263239:V452F	V	+	1	0	DDX18	118299133	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.136000	0.94489	2.583000	0.87209	0.650000	0.86243	GTC		0.388	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		48	70	1	0	2.13883e-14	0.00361006	6.98179e-14	48	70				
ATP7B	540	broad.mit.edu	37	13	52542619	52542619	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr13:52542619C>T	ENST00000242839.4	-	4	1824	c.1668G>A	c.(1666-1668)atG>atA	p.M556I	ATP7B_ENST00000344297.5_Missense_Mutation_p.M556I|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.M445I|ATP7B_ENST00000418097.2_Missense_Mutation_p.M556I|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000448424.2_Missense_Mutation_p.M556I	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	556					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.M556N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CGTAGTCCTCCATGACTGCTG	0.522									Wilson disease																													ENST00000242839.4																			1	Substitution - Missense(1)	p.M556N(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(1666-1668)atG>atA		ATPase, Cu++ transporting, beta polypeptide							98.0	102.0	101.0					13																	52542619		2140	4239	6379	SO:0001583	missense	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52542619C>T	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1668G>A	13.37:g.52542619C>T	ENSP00000242839:p.Met556Ile					ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.M445I|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.M556I|ATP7B_ENST00000344297.5_Missense_Mutation_p.M556I|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.M556I	p.M556I	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	4	1824	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	556					Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.1668G>A	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	6.633	0.485272	0.12641	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000418097	D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11	5.68	5.68	0.88126	Heavy metal-associated domain, HMA (1);	0.156012	0.85682	D	0.000000	T	0.72045	0.3412	N	0.05608	-0.01	0.80722	D	1	B;B;B;B;B;B	0.22541	0.001;0.0;0.071;0.03;0.025;0.001	B;B;B;B;B;B	0.26202	0.005;0.0;0.067;0.021;0.021;0.001	T	0.67237	-0.5721	10	0.02654	T	1	-24.4956	12.6262	0.56630	0.0:0.8821:0.0:0.1179	.	556;556;556;445;556;556	E7ET55;B7ZLR4;F5H748;P35670-3;P35670-2;P35670	.;.;.;.;.;ATP7B_HUMAN	I	556;445;556;556;556	ENSP00000242839:M556I;ENSP00000383217:M445I;ENSP00000342559:M556I;ENSP00000416738:M556I;ENSP00000393343:M556I	ENSP00000242839:M556I	M	-	3	0	ATP7B	51440620	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	2.745000	0.47459	2.702000	0.92279	0.655000	0.94253	ATG		0.522	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		29	6	0	0	0	0.001512	0	29	6				
ZNF764	92595	broad.mit.edu	37	16	30566697	30566697	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:30566697C>T	ENST00000252797.2	-	3	1125	c.1045G>A	c.(1045-1047)Ggc>Agc	p.G349S	ZNF764_ENST00000395091.2_Missense_Mutation_p.G348S|AC002310.13_ENST00000568114.1_Intron	NM_001172679.1|NM_033410.3	NP_001166150.1|NP_219363.2	Q96H86	ZN764_HUMAN	zinc finger protein 764	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						AAGCGGCGGCCGCACTGCGGG	0.736																																						ENST00000395091.2																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(1042-1044)Ggc>Agc		zinc finger protein 764							4.0	5.0	5.0					16																	30566697		2057	4070	6127	SO:0001583	missense	92595				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30566697C>T	BC008821	CCDS10683.1, CCDS54001.1	16p11.2	2013-01-08			ENSG00000169951	ENSG00000169951		"""Zinc fingers, C2H2-type"", ""-"""	28200	protein-coding gene	gene with protein product						12477932	Standard	NM_033410		Approved	MGC13138	uc002dyq.3	Q96H86	OTTHUMG00000132406	ENST00000252797.2:c.1045G>A	16.37:g.30566697C>T	ENSP00000252797:p.Gly349Ser					AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.G349S	p.G348S			Q96H86	ZN764_HUMAN			3	1357	-			349					A8MZF4|B3KSN2|H9KV99|Q9BWS1	Missense_Mutation	SNP	ENST00000252797.2	37	c.1042G>A	CCDS10683.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125471	0.77436	.	.	ENSG00000169951	ENST00000252797;ENST00000395091	T;T	0.64618	-0.11;-0.11	4.77	4.77	0.60923	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39759	N	0.001277	T	0.66237	0.2769	N	0.20304	0.555	0.36646	D	0.877117	D;D	0.76494	0.996;0.999	P;D	0.69824	0.86;0.966	T	0.73688	-0.3904	10	0.59425	D	0.04	-24.1284	15.6653	0.77225	0.0:1.0:0.0:0.0	.	348;349	B3KSN2;Q96H86	.;ZN764_HUMAN	S	349;348	ENSP00000252797:G349S;ENSP00000378526:G348S	ENSP00000252797:G349S	G	-	1	0	ZNF764	30474198	0.377000	0.25106	0.996000	0.52242	0.483000	0.33249	2.190000	0.42630	2.626000	0.88956	0.655000	0.94253	GGC		0.736	ZNF764-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255541.1	NM_033410		7	13	0	0	0	0.00198382	0	7	13				
SLC7A9	11136	broad.mit.edu	37	19	33333131	33333131	+	Silent	SNP	C	C	A	rs368549032		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:33333131C>A	ENST00000023064.4	-	11	1358	c.1167G>T	c.(1165-1167)acG>acT	p.T389T	SLC7A9_ENST00000590341.1_Silent_p.T389T|SLC7A9_ENST00000587772.1_Silent_p.T389T	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	389					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)	p.T389T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GTCCTAGAATCGTCAGGCCAT	0.428																																					GBM(181;1335 2108 9644 44178 46689)	ENST00000023064.4																			1	Substitution - coding silent(1)	p.T389T(1)	lung(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(1165-1167)acG>acT		solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	L-Cystine(DB00138)						98.0	95.0	96.0					19																	33333131		2203	4300	6503	SO:0001819	synonymous_variant	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33333131C>A	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.1167G>T	19.37:g.33333131C>A						SLC7A9_ENST00000587772.1_Silent_p.T389T|SLC7A9_ENST00000590341.1_Silent_p.T389T	p.T389T	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN			11	1358	-	Esophageal squamous(110;0.137)		389					B2R9A6	Silent	SNP	ENST00000023064.4	37	c.1167G>T	CCDS12425.1																																																																																				0.428	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			15	42	1	0	4.7546e-09	0.00400662	1.41692e-08	15	42				
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs201409537		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323																																						ENST00000448984.1																			4	Substitution - Missense(4)	p.S298N(4)	endometrium(2)|kidney(2)	endometrium(3)|kidney(1)|lung(4)	8						c.(892-894)aGt>aAt		tripartite motif containing 49C																																				SO:0001583	missense	642612					intracellular	zinc ion binding	g.chr11:89774252G>A	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.893G>A	11.37:g.89774252G>A	ENSP00000388299:p.Ser298Asn					TRIM49C_ENST00000432771.1_Intron	p.S298N	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN			8	1222	+			298			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000448984.1	37	c.893G>A	CCDS53694.1	.	.	.	.	.	.	.	.	.	.	g	0.625	-0.819420	0.02776	.	.	ENSG00000204449	ENST00000448984	T	0.04809	3.55	0.823	-0.634	0.11516	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.04452	0.0122	L	0.52206	1.635	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.43605	-0.9381	8	.	.	.	.	3.2016	0.06651	0.4432:0.0:0.5568:0.0	rs672762;rs9666958;rs16912727;rs672762	298	P0CI26	T49L2_HUMAN	N	298	ENSP00000388299:S298N	.	S	+	2	0	TRIM49L2	89413900	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-1.058000	0.03482	-0.239000	0.09710	0.305000	0.20034	AGT		0.323	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234		4	45	0	0	0	0.00024832	0	4	45				
CNKSR2	22866	broad.mit.edu	37	X	21670529	21670529	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:21670529G>A	ENST00000379510.3	+	22	3031	c.2995G>A	c.(2995-2997)Gat>Aat	p.D999N	CNKSR2_ENST00000425654.2_Missense_Mutation_p.D969N	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	999					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CCTTTTCTTGGATATCTGTCA	0.393																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2905-2907)Gat>Aat		connector enhancer of kinase suppressor of Ras 2							171.0	142.0	152.0					X																	21670529		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21670529G>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2995G>A	X.37:g.21670529G>A	ENSP00000368824:p.Asp999Asn					CNKSR2_ENST00000379510.3_Missense_Mutation_p.D999N	p.D969N	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			21	3385	+			999					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.2905G>A	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789091	0.31685	.	.	ENSG00000149970	ENST00000425654;ENST00000379510	T;T	0.23754	1.89;1.94	5.8	5.8	0.92144	.	0.056005	0.64402	D	0.000002	T	0.27241	0.0668	L	0.52011	1.625	0.80722	D	1	B;B	0.14012	0.009;0.009	B;B	0.12837	0.008;0.008	T	0.02909	-1.1095	10	0.66056	D	0.02	-12.7822	14.3654	0.66803	0.0749:0.0:0.9251:0.0	.	969;999	B7ZLJ1;Q8WXI2	.;CNKR2_HUMAN	N	969;999	ENSP00000397906:D969N;ENSP00000368824:D999N	ENSP00000368824:D999N	D	+	1	0	CNKSR2	21580450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.198000	0.72106	2.439000	0.82584	0.544000	0.68410	GAT		0.393	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		30	15	0	0	0	0.00209593	0	30	15				
FSTL5	56884	broad.mit.edu	37	4	162841698	162841698	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:162841698A>T	ENST00000306100.5	-	4	703	c.267T>A	c.(265-267)tgT>tgA	p.C89*	FSTL5_ENST00000427802.2_Nonsense_Mutation_p.C88*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.C88*|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.C88*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	89	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AAAGGTCCATACAGGCACATT	0.458																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(265-267)tgT>tgA		follistatin-like 5							110.0	97.0	102.0					4																	162841698		2203	4300	6503	SO:0001587	stop_gained	56884					extracellular region	calcium ion binding	g.chr4:162841698A>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.267T>A	4.37:g.162841698A>T	ENSP00000305334:p.Cys89*					FSTL5_ENST00000379164.4_Nonsense_Mutation_p.C88*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.C88*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.C88*	p.C89*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	4	703	-	all_hematologic(180;0.24)		89			Kazal-like.		E9PCP6|Q9NSW7|Q9ULF7	Nonsense_Mutation	SNP	ENST00000306100.5	37	c.267T>A	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	A	40	8.033391	0.98621	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	.	.	.	5.86	1.24	0.21308	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0378	0.36298	0.423:0.0:0.577:0.0	.	.	.	.	X	89;88;88;88	.	ENSP00000305334:C89X	C	-	3	2	FSTL5	163061148	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	1.514000	0.35834	0.194000	0.20326	-0.137000	0.14449	TGT		0.458	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		13	5	0	0	0	0.00185496	0	13	5				
ESPL1	9700	broad.mit.edu	37	12	53683319	53683319	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:53683319G>T	ENST00000257934.4	+	22	5145	c.5054G>T	c.(5053-5055)gGc>gTc	p.G1685V	ESPL1_ENST00000552462.1_Missense_Mutation_p.G1685V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1685					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TTGGAATCTGGCCACTTCCCC	0.612																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(5053-5055)gGc>gTc		extra spindle pole bodies homolog 1 (S. cerevisiae)							47.0	50.0	49.0					12																	53683319		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53683319G>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.5054G>T	12.37:g.53683319G>T	ENSP00000257934:p.Gly1685Val					ESPL1_ENST00000552462.1_Missense_Mutation_p.G1685V	p.G1685V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			22	5145	+			1685						Missense_Mutation	SNP	ENST00000257934.4	37	c.5054G>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358702	0.24598	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12361	2.69;2.69	5.26	5.26	0.73747	.	0.338374	0.30492	N	0.009508	T	0.11024	0.0269	L	0.29908	0.895	0.35639	D	0.810829	B	0.19706	0.038	B	0.14023	0.01	T	0.16512	-1.0400	10	0.22706	T	0.39	.	14.2504	0.66016	0.0:0.0:1.0:0.0	.	1685	Q14674	ESPL1_HUMAN	V	1685;1360;1685	ENSP00000257934:G1685V;ENSP00000449831:G1685V	ENSP00000257934:G1685V	G	+	2	0	ESPL1	51969586	0.989000	0.36119	0.142000	0.22268	0.291000	0.27294	2.434000	0.44802	2.735000	0.93741	0.563000	0.77884	GGC		0.612	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		51	14	1	0	5.57489e-27	0.00361006	2.04869e-26	51	14				
ASRGL1	80150	broad.mit.edu	37	11	62124564	62124564	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:62124564C>T	ENST00000415229.2	+	4	654	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	ASRGL1_ENST00000535727.1_Missense_Mutation_p.R19C|ASRGL1_ENST00000301776.5_Missense_Mutation_p.R147C|ASRGL1_ENST00000528206.1_3'UTR	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	147					asparagine catabolic process via L-aspartate (GO:0033345)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	asparaginase activity (GO:0004067)|beta-aspartyl-peptidase activity (GO:0008798)			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	AAACAAAAAGCGCCTGGAAAA	0.433																																						ENST00000415229.2																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(439-441)Cgc>Tgc		asparaginase like 1	L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)						70.0	80.0	76.0					11																	62124564		2202	4299	6501	SO:0001583	missense	80150				asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr11:62124564C>T		CCDS8019.1	11q12.3	2008-07-18			ENSG00000162174	ENSG00000162174			16448	protein-coding gene	gene with protein product	"""asparaginase-like 1 protein"""	609212					Standard	NM_025080		Approved	FLJ22316, ALP1, ALP	uc001ntf.4	Q7L266	OTTHUMG00000167513	ENST00000415229.2:c.439C>T	11.37:g.62124564C>T	ENSP00000400057:p.Arg147Cys					ASRGL1_ENST00000528206.1_3'UTR|ASRGL1_ENST00000301776.5_Missense_Mutation_p.R147C|ASRGL1_ENST00000535727.1_Missense_Mutation_p.R19C	p.R147C	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN			4	654	+			147					B2R7Q0|Q567Q4|Q6P1P0|Q8NI34|Q9H6F7	Missense_Mutation	SNP	ENST00000415229.2	37	c.439C>T	CCDS8019.1	.	.	.	.	.	.	.	.	.	.	c	16.50	3.140258	0.56936	.	.	ENSG00000162174	ENST00000415229;ENST00000535727;ENST00000301776	D;D;D	0.89270	-2.37;-2.49;-2.37	5.77	3.89	0.44902	.	0.542116	0.20330	N	0.094459	D	0.93588	0.7953	M	0.90977	3.165	0.42229	D	0.991885	D	0.65815	0.995	P	0.58970	0.849	D	0.92578	0.6072	10	0.72032	D	0.01	-0.3529	7.1459	0.25583	0.3022:0.6192:0.0:0.0786	.	147	Q7L266	ASGL1_HUMAN	C	147;19;147	ENSP00000400057:R147C;ENSP00000443284:R19C;ENSP00000301776:R147C	ENSP00000301776:R147C	R	+	1	0	ASRGL1	61881140	0.999000	0.42202	0.017000	0.16124	0.664000	0.39144	2.125000	0.42016	0.789000	0.33779	0.552000	0.68991	CGC		0.433	ASRGL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394865.1	NM_001083926		17	28	0	0	0	0.000958276	0	17	28				
FCGBP	8857	broad.mit.edu	37	19	40421289	40421289	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:40421289G>A	ENST00000221347.6	-	5	2639	c.2632C>T	c.(2632-2634)Cgg>Tgg	p.R878W		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	878	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGAAGCGCCGGCCGTCGAAG	0.667																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(2632-2634)Cgg>Tgg		Fc fragment of IgG binding protein							29.0	28.0	28.0					19																	40421289		2202	4300	6502	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40421289G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2632C>T	19.37:g.40421289G>A	ENSP00000221347:p.Arg878Trp						p.R878W	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		5	2639	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		878			VWFD 2.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.2632C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616763	0.66672	.	.	ENSG00000090920	ENST00000221347	T	0.61158	0.13	4.7	2.46	0.29980	von Willebrand factor, type D domain (3);	0.762945	0.11592	N	0.548669	T	0.73659	0.3615	M	0.78916	2.43	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.59867	-0.7373	10	0.46703	T	0.11	.	10.0412	0.42160	0.0:0.1452:0.6939:0.1609	.	878	Q9Y6R7	FCGBP_HUMAN	W	878	ENSP00000221347:R878W	ENSP00000221347:R878W	R	-	1	2	FCGBP	45113129	0.000000	0.05858	0.997000	0.53966	0.996000	0.88848	-0.052000	0.11865	0.464000	0.27142	0.491000	0.48974	CGG		0.667	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		4	9	0	0	0	0.00024832	0	4	9				
MRPS17P9	359760	broad.mit.edu	37	X	118513760	118513760	+	RNA	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:118513760G>C	ENST00000413240.1	-	0	491																											GCTAAAGTGAGAGTGATCAGG	0.413																																						ENST00000413240.1																			0																				95.0	93.0	93.0					X																	118513760		876	1991	2867			359760							g.chrX:118513760G>C																													X.37:g.118513760G>C														0	491	-									RNA	SNP	ENST00000413240.1	37																																																																																						0.413	RP5-1139I1.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000058025.1			28	57	0	0	0	0.000720815	0	28	57				
MAST1	22983	broad.mit.edu	37	19	12958435	12958435	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:12958435C>T	ENST00000251472.4	+	6	537	c.498C>T	c.(496-498)cgC>cgT	p.R166R	MAST1_ENST00000591495.1_Silent_p.R162R	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCCCCGGGCGCTCCCCCTCCT	0.627											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(496-498)cgC>cgT		microtubule associated serine/threonine kinase 1							42.0	45.0	44.0					19																	12958435		2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12958435C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.498C>T	19.37:g.12958435C>T			OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	MAST1_ENST00000591495.1_Silent_p.R162R	p.R166R	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			6	537	+			166						Silent	SNP	ENST00000251472.4	37	c.498C>T	CCDS32921.1																																																																																				0.627	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		29	43	0	0	0	0.001512	0	29	43				
DYSF	8291	broad.mit.edu	37	2	71909661	71909661	+	Splice_Site	SNP	C	C	A	rs370286628		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:71909661C>A	ENST00000258104.3	+	54	6335	c.6058C>A	c.(6058-6060)Cgc>Agc	p.R2020S	DYSF_ENST00000410041.1_Splice_Site_p.R2038S|DYSF_ENST00000409651.1_Splice_Site_p.R2052S|DYSF_ENST00000394120.2_Splice_Site_p.R2021S|DYSF_ENST00000409366.1_Splice_Site_p.R2042S|DYSF_ENST00000410020.3_Splice_Site_p.R2059S|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Splice_Site_p.R2051S|DYSF_ENST00000429174.2_Splice_Site_p.R2041S|DYSF_ENST00000409582.3_Splice_Site_p.R2058S|DYSF_ENST00000409762.1_Splice_Site_p.R2037S|DYSF_ENST00000409744.1_Splice_Site_p.R2028S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2020					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGCTTCCAGGCGCCCCGACAC	0.567																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.e54-1		dysferlin							136.0	113.0	121.0					2																	71909661		2203	4300	6503	SO:0001630	splice_region_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71909661C>A	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.6057-1C>A	2.37:g.71909661C>A						DYSF_ENST00000409744.1_Splice_Site_p.R2028_splice|DYSF_ENST00000429174.2_Splice_Site_p.R2041_splice|DYSF_ENST00000409582.3_Splice_Site_p.R2058_splice|DYSF_ENST00000413539.2_Splice_Site_p.R2051_splice|DYSF_ENST00000410020.3_Splice_Site_p.R2059_splice|DYSF_ENST00000410041.1_Splice_Site_p.R2038_splice|DYSF_ENST00000409762.1_Splice_Site_p.R2037_splice|DYSF_ENST00000409651.1_Splice_Site_p.R2052_splice|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Splice_Site_p.R2042_splice|DYSF_ENST00000394120.2_Splice_Site_p.R2021_splice	p.R2020_splice	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			54	6335	+			2020					A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Splice_Site	SNP	ENST00000258104.3	37	c.6056_splice	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.037864	0.93630	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.89681	-2.55;-2.55;-2.54;-2.52;-2.55;-2.55;-2.55;-2.52;-2.52;-2.53;-2.55	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.95564	0.8558	M	0.90870	3.155	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.999;1.0;1.0;1.0;1.0;0.999;1.0;1.0;0.999;0.999;0.998	D	0.96314	0.9231	10	0.72032	D	0.01	-19.5122	16.3717	0.83364	0.0:1.0:0.0:0.0	.	784;2052;2059;2042;2007;2038;2028;2037;2027;2051;2058;2041;2006;2021;2020	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	S	2051;2037;2058;2041;2020;2052;2021;2028;2042;2059;2038	ENSP00000407046:R2051S;ENSP00000387137:R2037S;ENSP00000386547:R2058S;ENSP00000398305:R2041S;ENSP00000258104:R2020S;ENSP00000386683:R2052S;ENSP00000377678:R2021S;ENSP00000386285:R2028S;ENSP00000386512:R2042S;ENSP00000386881:R2059S;ENSP00000386617:R2038S	ENSP00000258104:R2020S	R	+	1	0	DYSF	71763169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.751000	0.85126	2.514000	0.84764	0.655000	0.94253	CGC		0.567	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	Missense_Mutation	34	99	1	0	1.71298e-08	0.00375469	5.01748e-08	34	99				
ITPR2	3709	broad.mit.edu	37	12	26580957	26580957	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:26580957C>A	ENST00000381340.3	-	49	7250	c.6834G>T	c.(6832-6834)ctG>ctT	p.L2278L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2278					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGAAGAAAAACAGCATAGATG	0.383																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(6832-6834)ctG>ctT		inositol 1,4,5-trisphosphate receptor, type 2							95.0	87.0	90.0					12																	26580957		1848	4099	5947	SO:0001819	synonymous_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26580957C>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6834G>T	12.37:g.26580957C>A							p.L2278L	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			49	7250	-	Colorectal(261;0.0847)		2278					O94773	Silent	SNP	ENST00000381340.3	37	c.6834G>T	CCDS41764.1																																																																																				0.383	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		18	66	1	0	4.35082e-09	0.00152264	1.30634e-08	18	66				
EFEMP2	30008	broad.mit.edu	37	11	65637634	65637634	+	Missense_Mutation	SNP	C	C	T	rs148940436	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:65637634C>T	ENST00000307998.6	-	6	795	c.565G>A	c.(565-567)Gag>Aag	p.E189K	EFEMP2_ENST00000528176.1_Missense_Mutation_p.E189K|EFEMP2_ENST00000532648.1_5'Flank	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	189	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		AAGCCCGGCTCGCACTGGCAG	0.667													C|||	2	0.000399361	0.0	0.0	5008	,	,		15526	0.0		0.002	False		,,,				2504	0.0					ENST00000307998.6																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(565-567)Gag>Aag		EGF containing fibulin-like extracellular matrix protein 2		C	LYS/GLU	0,4402		0,0,2201	39.0	43.0	41.0		565	5.4	1.0	11	dbSNP_134	41	2,8586	2.2+/-6.3	0,2,4292	yes	missense	EFEMP2	NM_016938.4	56	0,2,6493	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	189/444	65637634	2,12988	2201	4294	6495	SO:0001583	missense	30008				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	g.chr11:65637634C>T	AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.565G>A	11.37:g.65637634C>T	ENSP00000309953:p.Glu189Lys					EFEMP2_ENST00000528176.1_Missense_Mutation_p.E189K	p.E189K	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN		READ - Rectum adenocarcinoma(159;0.169)	6	795	-			189			EGF-like 3; calcium-binding (Potential).		A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	ENST00000307998.6	37	c.565G>A	CCDS8116.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	16.50	3.139733	0.56936	0.0	2.33E-4	ENSG00000172638	ENST00000528176;ENST00000307998;ENST00000526624	D;D;D	0.93712	-3.27;-3.27;-2.19	5.36	5.36	0.76844	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.51477	D	0.000097	D	0.88738	0.6518	N	0.16016	0.355	0.58432	D	0.999997	D;D	0.71674	0.998;0.974	P;P	0.50570	0.644;0.595	D	0.85949	0.1463	10	0.06365	T	0.9	.	16.9411	0.86218	0.0:1.0:0.0:0.0	.	189;189	E9PRU1;O95967	.;FBLN4_HUMAN	K	189	ENSP00000434151:E189K;ENSP00000309953:E189K;ENSP00000435419:E189K	ENSP00000309953:E189K	E	-	1	0	EFEMP2	65394210	0.517000	0.26226	0.995000	0.50966	0.994000	0.84299	1.952000	0.40343	2.674000	0.91012	0.561000	0.74099	GAG		0.667	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391047.4	NM_016938		22	31	0	0	0	0.00395357	0	22	31				
SCN3A	6328	broad.mit.edu	37	2	165947639	165947639	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:165947639G>C	ENST00000360093.3	-	28	5515	c.5024C>G	c.(5023-5025)tCc>tGc	p.S1675C	SCN3A_ENST00000540861.1_Missense_Mutation_p.S158C|SCN3A_ENST00000409101.3_Missense_Mutation_p.S1626C|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000283254.7_Missense_Mutation_p.S1675C	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1675					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGCAAAGTTGGACATCCCAAA	0.443																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(5023-5025)tCc>tGc		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						159.0	154.0	156.0					2																	165947639		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165947639G>C	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5024C>G	2.37:g.165947639G>C	ENSP00000353206:p.Ser1675Cys					SCN3A_ENST00000409101.3_Missense_Mutation_p.S1626C|SCN3A_ENST00000283254.7_Missense_Mutation_p.S1675C|SCN3A_ENST00000540861.1_Missense_Mutation_p.S158C|AC013463.2_ENST00000431341.1_RNA	p.S1675C	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			28	5515	-			1675					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.5024C>G		.	.	.	.	.	.	.	.	.	.	G	18.23	3.577372	0.65878	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000009	D	0.99330	0.9765	H	0.94964	3.605	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.995;0.996;0.996	D	0.98880	1.0769	10	0.87932	D	0	.	20.2313	0.98350	0.0:0.0:1.0:0.0	.	1626;1626;1675	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	C	1675;1675;1626;158	ENSP00000353206:S1675C;ENSP00000283254:S1675C;ENSP00000386726:S1626C;ENSP00000439920:S158C	ENSP00000283254:S1675C	S	-	2	0	SCN3A	165655885	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.865000	0.99609	2.784000	0.95788	0.580000	0.79431	TCC		0.443	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		67	99	0	0	0	0.00361006	0	67	99				
IGHV6-1	28385	broad.mit.edu	37	14	106406028	106406028	+	RNA	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:106406028G>A	ENST00000390593.2	-	0	80									immunoglobulin heavy variable 6-1																		GCCCAGCACGGGCAGGAAGAT	0.567																																						ENST00000390593.2																			0																				56.0	59.0	58.0					14																	106406028		1983	4147	6130			28385							g.chr14:106406028G>A	X92224		14q32.33	2012-02-08			ENSG00000211933	ENSG00000211933		"""Immunoglobulins / IGH locus"""	5662	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152324		14.37:g.106406028G>A														0	80	-									RNA	SNP	ENST00000390593.2	37																																																																																						0.567	IGHV6-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325886.1	NG_001019		14	10	0	0	0	0.00316338	0	14	10				
ARHGAP36	158763	broad.mit.edu	37	X	130220538	130220538	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:130220538C>T	ENST00000276211.5	+	11	1730	c.1385C>T	c.(1384-1386)gCa>gTa	p.A462V	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.A450V|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.A326V	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	462					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TTCAGGAGTGCACGCATAAAG	0.453																																						ENST00000276211.5																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(1384-1386)gCa>gTa		Rho GTPase activating protein 36							107.0	93.0	98.0					X																	130220538		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130220538C>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1385C>T	X.37:g.130220538C>T	ENSP00000276211:p.Ala462Val					ARHGAP36_ENST00000370921.1_Missense_Mutation_p.A326V|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.A450V	p.A462V	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			11	1730	+			462					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.1385C>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.985058	0.35036	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.10668	2.85;2.85;2.86;2.86	4.32	3.45	0.39498	.	0.142444	0.32819	N	0.005611	T	0.06005	0.0156	N	0.08118	0	0.33918	D	0.640483	B;P;B	0.37330	0.447;0.59;0.319	B;B;B	0.43536	0.23;0.423;0.176	T	0.34800	-0.9814	10	0.23891	T	0.37	.	4.493	0.11822	0.2234:0.6628:0.0:0.1138	.	431;450;462	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	V	462;450;431;326	ENSP00000276211:A462V;ENSP00000359960:A450V;ENSP00000408515:A431V;ENSP00000359959:A326V	ENSP00000276211:A462V	A	+	2	0	ARHGAP36	130048219	0.816000	0.29132	0.883000	0.34634	0.893000	0.52053	1.232000	0.32636	1.138000	0.42230	0.594000	0.82650	GCA		0.453	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		37	62	0	0	0	0.00327116	0	37	62				
FBXO4	26272	broad.mit.edu	37	5	41939628	41939628	+	Silent	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:41939628A>G	ENST00000281623.3	+	6	1040	c.984A>G	c.(982-984)ttA>ttG	p.L328L	FBXO4_ENST00000509134.1_Intron	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	328					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TGTTGGTTTTATCTTGTATTT	0.393																																						ENST00000281623.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27						c.(982-984)ttA>ttG		F-box protein 4							167.0	175.0	172.0					5																	41939628		2203	4300	6503	SO:0001819	synonymous_variant	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41939628A>G	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.984A>G	5.37:g.41939628A>G						FBXO4_ENST00000509134.1_Intron	p.L328L	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN			6	1040	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	328					Q68CU8|Q86VT8|Q9UK98	Silent	SNP	ENST00000281623.3	37	c.984A>G	CCDS3938.1																																																																																				0.393	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			57	145	0	0	0	0.00361006	0	57	145				
TAF9B	51616	broad.mit.edu	37	X	77392460	77392460	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:77392460G>T	ENST00000341864.5	-	5	527	c.433C>A	c.(433-435)Cga>Aga	p.R145R		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	145					DNA-templated transcription, initiation (GO:0006352)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell growth (GO:0030307)|programmed cell death (GO:0012501)|protein stabilization (GO:0050821)|response to organic cyclic compound (GO:0014070)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						ACACTTAATCGTGGAACTAGT	0.408																																						ENST00000341864.5																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						c.(433-435)Cga>Aga		TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa							154.0	124.0	134.0					X																	77392460		2203	4296	6499	SO:0001819	synonymous_variant	51616				negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding	g.chrX:77392460G>T	AF220509	CCDS35340.1	Xq13.1-q21.1	2010-08-16	2006-01-04	2006-01-04	ENSG00000187325	ENSG00000187325			17306	protein-coding gene	gene with protein product		300754	"""TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa"""	TAF9L		15899866	Standard	XM_005262142		Approved	TAFII31L, DN-7, DN7, TFIID-31	uc004eda.3	Q9HBM6	OTTHUMG00000021887	ENST00000341864.5:c.433C>A	X.37:g.77392460G>T							p.R145R	NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN			5	527	-			145					B2RUZ9|Q9Y2S3	Silent	SNP	ENST00000341864.5	37	c.433C>A	CCDS35340.1																																																																																				0.408	TAF9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057308.1	NM_015975		31	48	1	0	1.21669e-08	0.00327116	3.58132e-08	31	48				
PIWIL3	440822	broad.mit.edu	37	22	25119105	25119105	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr22:25119105C>A	ENST00000332271.5	-	19	2792	c.2376G>T	c.(2374-2376)agG>agT	p.R792S	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.R674S|PIWIL3_ENST00000527701.1_Missense_Mutation_p.R674S	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	792	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACCATTCATTCCTAGTCAACT	0.338																																						ENST00000332271.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2374-2376)agG>agT		piwi-like RNA-mediated gene silencing 3							151.0	144.0	146.0					22																	25119105		2203	4300	6503	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25119105C>A	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.2376G>T	22.37:g.25119105C>A	ENSP00000330031:p.Arg792Ser					PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.R674S|PIWIL3_ENST00000533313.1_Missense_Mutation_p.R674S	p.R792S	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			19	2792	-			792			Piwi.			Missense_Mutation	SNP	ENST00000332271.5	37	c.2376G>T	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.059136	0.55325	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.26957	1.7;1.7;1.7	2.72	2.72	0.32119	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.117673	0.51477	D	0.000086	T	0.35770	0.0943	L	0.35723	1.085	0.43798	D	0.996346	D;B;D	0.76494	0.992;0.025;0.999	D;B;D	0.81914	0.96;0.089;0.995	T	0.04153	-1.0973	10	0.30078	T	0.28	-1.8903	11.6223	0.51126	0.0:1.0:0.0:0.0	.	674;783;792	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	S	792;674;674	ENSP00000330031:R792S;ENSP00000431843:R674S;ENSP00000435718:R674S	ENSP00000330031:R792S	R	-	3	2	PIWIL3	23449105	0.036000	0.19791	0.068000	0.19968	0.261000	0.26267	-0.488000	0.06497	1.847000	0.53656	0.561000	0.74099	AGG		0.338	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		26	8	1	0	5.45727e-16	0.001512	1.83132e-15	26	8				
CTSL3P	392360	broad.mit.edu	37	9	90388441	90388441	+	RNA	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:90388441A>G	ENST00000354530.2	+	0	307					NR_027917.1		Q5NE16	CATL3_HUMAN	cathepsin L family member 3, pseudogene								cysteine-type peptidase activity (GO:0008234)										GACCTGGTGGACTGCTCTAGG	0.468																																						ENST00000354530.2																			0																				149.0	139.0	142.0					9																	90388441		2203	4300	6503			392360							g.chr9:90388441A>G	AJ851862		9q21.33	2013-01-07	2013-01-07	2013-01-07	ENSG00000188029	ENSG00000188029		"""Cathepsins"""	33132	pseudogene	pseudogene			"""cathepsin L family member 3"""	CTSL3		19663681	Standard	NR_027917		Approved	HCTSL-s	uc004apm.1	Q5NE16	OTTHUMG00000020152		9.37:g.90388441A>G								NR_027917.1						0	307	+									RNA	SNP	ENST00000354530.2	37																																																																																						0.468	CTSL3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356542.1	NR_027917		29	40	0	0	0	0.000878237	0	29	40				
CSMD3	114788	broad.mit.edu	37	8	113259248	113259248	+	Splice_Site	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:113259248C>A	ENST00000297405.5	-	64	10467		c.e64+1		CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAATACTTACGTATGCATTC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.e64+1		CUB and Sushi multiple domains 3							100.0	86.0	91.0					8																	113259248		2203	4300	6503	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113259248C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10222+1G>T	8.37:g.113259248C>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site|CSMD3_ENST00000455883.2_Splice_Site		NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			64	10467	-								Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37		CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719710	0.68844	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5998	0.91244	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD3	113328424	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	7.562000	0.82300	2.700000	0.92200	0.467000	0.42956	.		0.378	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Intron	17	35	1	0	1.15088e-07	0.00400662	3.30636e-07	17	35				
PRKD1	5587	broad.mit.edu	37	14	30046533	30046533	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:30046533G>T	ENST00000331968.5	-	18	2879	c.2650C>A	c.(2650-2652)Ctg>Atg	p.L884M	PRKD1_ENST00000415220.2_Missense_Mutation_p.L892M	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	884					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGATTGATCAGGTGTGTGGGG	0.537																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(2650-2652)Ctg>Atg		protein kinase D1							149.0	123.0	132.0					14																	30046533		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30046533G>T		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2650C>A	14.37:g.30046533G>T	ENSP00000333568:p.Leu884Met					PRKD1_ENST00000415220.2_Missense_Mutation_p.L892M	p.L884M	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	18	2879	-	Hepatocellular(127;0.0604)		884					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.2650C>A	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852062	0.51270	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.67345	-0.26;-0.26	6.03	5.13	0.70059	Protein kinase-like domain (1);	0.082650	0.48286	D	0.000196	T	0.68897	0.3051	L	0.54323	1.7	0.46874	D	0.999232	P	0.49185	0.92	P	0.49708	0.62	T	0.66196	-0.5984	10	0.33940	T	0.23	-18.5153	14.727	0.69351	0.0686:0.0:0.9313:0.0	.	884	Q15139	KPCD1_HUMAN	M	884;892	ENSP00000333568:L884M;ENSP00000390535:L892M	ENSP00000333568:L884M	L	-	1	2	PRKD1	29116284	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	3.686000	0.54685	2.861000	0.98227	0.655000	0.94253	CTG		0.537	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		48	19	1	0	7.05377e-20	0.00361006	2.42828e-19	48	19				
PDILT	204474	broad.mit.edu	37	16	20386177	20386177	+	Missense_Mutation	SNP	G	G	C	rs376970505		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:20386177G>C	ENST00000302451.4	-	5	896	c.648C>G	c.(646-648)caC>caG	p.H216Q		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	216					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CAAGGGTGACGTGGAAACGCC	0.438																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(646-648)caC>caG		protein disulfide isomerase-like, testis expressed							182.0	158.0	166.0					16																	20386177		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20386177G>C		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.648C>G	16.37:g.20386177G>C	ENSP00000305465:p.His216Gln						p.H216Q	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			5	896	-			216					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.648C>G	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	G	3.247	-0.154155	0.06585	.	.	ENSG00000169340	ENST00000302451	T	0.21191	2.02	4.71	-9.43	0.00607	Thioredoxin-like fold (2);	0.390642	0.29861	N	0.011007	T	0.14141	0.0342	L	0.50919	1.6	0.09310	N	1	B	0.21225	0.053	B	0.25140	0.058	T	0.05194	-1.0900	10	0.28530	T	0.3	.	11.769	0.51947	0.7089:0.0:0.1922:0.0989	.	216	Q8N807	PDILT_HUMAN	Q	216	ENSP00000305465:H216Q	ENSP00000305465:H216Q	H	-	3	2	PDILT	20293678	0.000000	0.05858	0.003000	0.11579	0.054000	0.15201	-3.295000	0.00523	-2.263000	0.00689	-1.105000	0.02106	CAC		0.438	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		56	41	0	0	0	0.00361006	0	56	41				
HPSE2	60495	broad.mit.edu	37	10	100401623	100401623	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:100401623T>A	ENST00000370552.3	-	7	1138	c.1079A>T	c.(1078-1080)cAg>cTg	p.Q360L	HPSE2_ENST00000370549.1_Missense_Mutation_p.Q302L|HPSE2_ENST00000370546.1_Missense_Mutation_p.Q360L|HPSE2_ENST00000404542.1_Missense_Mutation_p.Q248L	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	360					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TTTCCTAATCTGGTCAGAGAG	0.428																																						ENST00000370552.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1078-1080)cAg>cTg		heparanase 2							192.0	205.0	200.0					10																	100401623		2203	4300	6503	SO:0001583	missense	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100401623T>A	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1079A>T	10.37:g.100401623T>A	ENSP00000359583:p.Gln360Leu					HPSE2_ENST00000370546.1_Missense_Mutation_p.Q360L|HPSE2_ENST00000370549.1_Missense_Mutation_p.Q302L|HPSE2_ENST00000404542.1_Missense_Mutation_p.Q248L	p.Q360L	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	7	1138	-			360					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	c.1079A>T	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.259326	0.80246	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.78	5.78	0.91487	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.062481	0.64402	D	0.000003	T	0.47857	0.1468	L	0.61218	1.895	0.80722	D	1	B;D;D;D	0.63046	0.275;0.974;0.992;0.959	B;P;D;P	0.72982	0.112;0.647;0.979;0.721	T	0.27297	-1.0078	10	0.29301	T	0.29	-10.1943	16.3979	0.83621	0.0:0.0:0.0:1.0	.	248;360;302;360	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	L	360;302;360;248	ENSP00000359583:Q360L;ENSP00000359580:Q302L;ENSP00000359577:Q360L;ENSP00000384384:Q248L	ENSP00000359577:Q360L	Q	-	2	0	HPSE2	100391613	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.264000	0.72527	2.333000	0.79357	0.533000	0.62120	CAG		0.428	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		69	107	0	0	0	0.00361006	0	69	107				
RALGAPA1	253959	broad.mit.edu	37	14	36217955	36217955	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:36217955G>T	ENST00000389698.3	-	10	1477	c.1087C>A	c.(1087-1089)Ccc>Acc	p.P363T	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.P363T|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P363T|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P363T	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	363					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GACTGTTCGGGTTCTGTAGTT	0.363																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1087-1089)Ccc>Acc		Ral GTPase activating protein, alpha subunit 1 (catalytic)							163.0	145.0	151.0					14																	36217955		2203	4300	6503	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36217955G>T	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.1087C>A	14.37:g.36217955G>T	ENSP00000374348:p.Pro363Thr					RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.P363T|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P363T|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P363T	p.P363T			Q6GYQ0	RGPA1_HUMAN			10	1477	-			363					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.1087C>A	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885716	0.72410	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.72	5.72	0.89469	.	0.054461	0.85682	D	0.000000	T	0.81403	0.4815	L	0.51422	1.61	0.58432	D	0.999997	D;D;P;P;P	0.65815	0.971;0.995;0.887;0.734;0.917	P;P;P;P;B	0.56700	0.779;0.804;0.7;0.562;0.37	T	0.75113	-0.3432	10	0.09338	T	0.73	-11.4175	19.8769	0.96880	0.0:0.0:1.0:0.0	.	363;363;363;363;363	Q6GYQ0-6;B9EK38;Q6GYQ0-3;Q6GYQ0-2;Q6GYQ0	.;.;.;.;RGPA1_HUMAN	T	363	ENSP00000374348:P363T;ENSP00000302647:P363T;ENSP00000258840:P363T;ENSP00000371803:P363T;ENSP00000451877:P363T	ENSP00000258840:P363T	P	-	1	0	RALGAPA1	35287706	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.013000	0.57138	2.700000	0.92200	0.655000	0.94253	CCC		0.363	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		13	13	1	0	2.23348e-06	0.00400662	6.17948e-06	13	13				
KLHL4	56062	broad.mit.edu	37	X	86773132	86773132	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:86773132G>T	ENST00000373119.4	+	1	381	c.236G>T	c.(235-237)gGa>gTa	p.G79V	KLHL4_ENST00000373114.4_Missense_Mutation_p.G79V	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	79						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CCAGTGCCAGGACCGGCCCCT	0.498																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(235-237)gGa>gTa		kelch-like family member 4							59.0	53.0	55.0					X																	86773132		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86773132G>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.236G>T	X.37:g.86773132G>T	ENSP00000362211:p.Gly79Val					KLHL4_ENST00000373114.4_Missense_Mutation_p.G79V	p.G79V	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			1	381	+			79					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.236G>T	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	g	13.53	2.265419	0.40095	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.74947	-0.89;-0.86	5.05	3.28	0.37604	.	0.930868	0.09051	N	0.855858	T	0.77538	0.4145	M	0.71581	2.175	0.58432	D	0.999999	P;B	0.52577	0.954;0.303	P;B	0.47744	0.556;0.046	T	0.70278	-0.4916	10	0.51188	T	0.08	.	9.6972	0.40165	0.1714:0.0:0.8286:0.0	.	79;79	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	V	79	ENSP00000362211:G79V;ENSP00000362206:G79V	ENSP00000362206:G79V	G	+	2	0	KLHL4	86659788	1.000000	0.71417	0.385000	0.26158	0.919000	0.55068	5.431000	0.66507	0.524000	0.28502	0.509000	0.49947	GGA		0.498	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			26	41	1	0	1.5548e-18	0.000878237	5.29162e-18	26	41				
VTA1	51534	broad.mit.edu	37	6	142487415	142487415	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:142487415G>A	ENST00000367630.4	+	2	221	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	VTA1_ENST00000367621.1_Intron|VTA1_ENST00000452973.2_Intron	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	55	Interaction with CHMP5.|Interaction with IST1.				endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TAAAACTCCTGAATGTCGCAA	0.299																																						ENST00000367630.4																			0				endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(163-165)Gaa>Aaa		vesicle (multivesicular body) trafficking 1							114.0	116.0	115.0					6																	142487415		2203	4299	6502	SO:0001583	missense	51534				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding	g.chr6:142487415G>A	AF060225	CCDS5197.1, CCDS69214.1, CCDS75531.1	6q24.1	2013-08-05	2013-08-05	2007-04-03	ENSG00000009844	ENSG00000009844			20954	protein-coding gene	gene with protein product		610902	"""chromosome 6 open reading frame 55"", ""Vps20-associated 1 homolog (S. cerevisiae)"""	C6orf55		11489251, 15644320	Standard	NM_001286372		Approved	HSPC228, My012	uc003qiw.3	Q9NP79	OTTHUMG00000015707	ENST00000367630.4:c.163G>A	6.37:g.142487415G>A	ENSP00000356602:p.Glu55Lys					VTA1_ENST00000367621.1_Intron|VTA1_ENST00000452973.2_Intron	p.E55K	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)	2	221	+	Breast(32;0.155)		55			Interaction with CHMP5.|Interaction with IST1.		B4DW55|E1P594|E7ETQ7|Q5TGM1|Q6IAE8|Q9H0R2|Q9H3K9|Q9P0Q0	Missense_Mutation	SNP	ENST00000367630.4	37	c.163G>A	CCDS5197.1	.	.	.	.	.	.	.	.	.	.	G	36	5.632560	0.96682	.	.	ENSG00000009844	ENST00000367630;ENST00000427932	T	0.57107	0.42	5.55	5.55	0.83447	Vacuolar protein sorting-associate Vta1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	M	0.90650	3.135	0.80722	D	1	D	0.54601	0.967	P	0.62014	0.897	T	0.76697	-0.2864	10	0.51188	T	0.08	-19.97	19.4973	0.95079	0.0:0.0:1.0:0.0	.	55	Q9NP79	VTA1_HUMAN	K	55;56	ENSP00000356602:E55K	ENSP00000356602:E55K	E	+	1	0	VTA1	142529108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.609000	0.90898	2.597000	0.87782	0.655000	0.94253	GAA		0.299	VTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042483.2	NM_016485		21	32	0	0	0	0.00229938	0	21	32				
PTPRD	5789	broad.mit.edu	37	9	8485777	8485777	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:8485777G>T	ENST00000381196.4	-	25	3583	c.3040C>A	c.(3040-3042)Ctg>Atg	p.L1014M	PTPRD_ENST00000356435.5_Missense_Mutation_p.L1014M|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.L1001M|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.L1014M|PTPRD_ENST00000358503.5_Missense_Mutation_p.L992M|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1014	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCCACAGGCAGTGTCCTGAAC	0.448										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(3040-3042)Ctg>Atg		protein tyrosine phosphatase, receptor type, D							70.0	66.0	68.0					9																	8485777		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8485777G>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3040C>A	9.37:g.8485777G>T	ENSP00000370593:p.Leu1014Met	TSP Lung(15;0.13)				PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.L1014M|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.L1001M|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.L1014M|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.L992M	p.L1014M	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	25	3583	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1014					B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3040C>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246283	0.22796	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	5.3	5.3	0.74995	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.068716	0.64402	D	0.000011	T	0.32041	0.0816	N	0.02802	-0.49	0.53005	D	0.999964	B;P;B	0.46395	0.021;0.877;0.012	B;B;B	0.41723	0.022;0.365;0.01	T	0.26326	-1.0106	9	.	.	.	.	19.2951	0.94118	0.0:0.0:1.0:0.0	.	1001;1014;1014	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	M	1014;1014;1001;992;1014	ENSP00000370593:L1014M;ENSP00000348812:L1014M;ENSP00000353187:L1001M;ENSP00000351293:L992M;ENSP00000438164:L1014M	.	L	-	1	2	PTPRD	8475777	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.919000	0.87513	2.643000	0.89663	0.655000	0.94253	CTG		0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			13	13	1	0	2.68362e-12	0.00136819	8.55047e-12	13	13				
SPANXN2	494119	broad.mit.edu	37	X	142803752	142803752	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:142803752G>T	ENST00000370498.1	-	1	764	c.11C>A	c.(10-12)cCg>cAg	p.P4Q		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	4										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGAAGTCGGCTGTTCCAT	0.448																																						ENST00000370498.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(10-12)cCg>cAg		SPANX family, member N2							255.0	246.0	249.0					X																	142803752		2203	4300	6503	SO:0001583	missense	494119							g.chrX:142803752G>T		CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.11C>A	X.37:g.142803752G>T	ENSP00000359529:p.Pro4Gln						p.P4Q	NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN			1	764	-	Acute lymphoblastic leukemia(192;6.56e-05)		4					Q0ZNM2	Missense_Mutation	SNP	ENST00000370498.1	37	c.11C>A	CCDS35419.1	.	.	.	.	.	.	.	.	.	.	g	9.735	1.163218	0.21538	.	.	ENSG00000203924	ENST00000370498	T	0.13778	2.56	1.07	-1.76	0.08006	.	.	.	.	.	T	0.28167	0.0695	M	0.73598	2.24	0.09310	N	1	D	0.76494	0.999	D	0.79108	0.992	T	0.13899	-1.0492	9	0.66056	D	0.02	.	2.4665	0.04554	0.2566:0.3157:0.4277:0.0	.	4	Q5MJ10	SPXN2_HUMAN	Q	4	ENSP00000359529:P4Q	ENSP00000359529:P4Q	P	-	2	0	SPANXN2	142631418	0.000000	0.05858	0.003000	0.11579	0.037000	0.13140	0.102000	0.15272	-0.628000	0.05582	0.274000	0.19336	CCG		0.448	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058621.2	NM_001009615		76	154	1	0	1.20873e-29	0.00361006	4.52519e-29	76	154				
XIRP2	129446	broad.mit.edu	37	2	168106105	168106105	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:168106105C>A	ENST00000409195.1	+	9	8292	c.8203C>A	c.(8203-8205)Caa>Aaa	p.Q2735K	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q2513K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q2735K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2560					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCATAAACAGCAATCTGAGAT	0.343																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(8203-8205)Caa>Aaa		xin actin-binding repeat containing 2							75.0	71.0	72.0					2																	168106105		1852	4084	5936	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106105C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8203C>A	2.37:g.168106105C>A	ENSP00000386840:p.Gln2735Lys					XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q2735K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q2513K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	p.Q2735K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	8292	+			2560					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8203C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.481320	0.26598	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02446	4.29;4.29;4.29	5.98	5.98	0.97165	.	0.789333	0.12008	N	0.508155	T	0.05914	0.0154	M	0.65975	2.015	0.38281	D	0.942434	B;B;B	0.24823	0.068;0.112;0.112	B;B;B	0.23852	0.013;0.049;0.049	T	0.23797	-1.0178	10	0.41790	T	0.15	-2.7946	12.5355	0.56140	0.0:0.9231:0.0:0.0769	.	2560;2560;2513	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	2735;2735;2513;149	ENSP00000386840:Q2735K;ENSP00000295237:Q2735K;ENSP00000387255:Q2513K	ENSP00000295237:Q2735K	Q	+	1	0	XIRP2	167814351	0.999000	0.42202	0.074000	0.20217	0.009000	0.06853	1.528000	0.35985	2.838000	0.97847	0.655000	0.94253	CAA		0.343	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		21	39	1	0	2.4624e-09	0.00121646	7.46823e-09	21	39				
IFNA6	3443	broad.mit.edu	37	9	21350709	21350709	+	Missense_Mutation	SNP	T	T	C	rs201824804	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:21350709T>C	ENST00000380210.1	-	1	668	c.178A>G	c.(178-180)Aga>Gga	p.R60G		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	60					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGGGGAAATCTGAAGTCATGT	0.522													T|||	6	0.00119808	0.0	0.0014	5008	,	,		22429	0.0		0.005	False		,,,				2504	0.0					ENST00000380210.1																			0				large_intestine(3)|lung(7)|skin(1)	11						c.(178-180)Aga>Gga		interferon, alpha 6							105.0	106.0	106.0					9																	21350709		2203	4300	6503	SO:0001583	missense	3443				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21350709T>C		CCDS6504.1	9p22	2010-12-10			ENSG00000120235	ENSG00000120235		"""Interferons"""	5427	protein-coding gene	gene with protein product		147566				1385305	Standard	NM_021002		Approved	IFN-alphaK	uc011lni.2	P05013	OTTHUMG00000019676	ENST00000380210.1:c.178A>G	9.37:g.21350709T>C	ENSP00000369558:p.Arg60Gly						p.R60G	NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN		Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	668	-			60					Q5VYQ1	Missense_Mutation	SNP	ENST00000380210.1	37	c.178A>G	CCDS6504.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	T	0.016	-1.535404	0.00942	.	.	ENSG00000120235	ENST00000380210	T	0.03272	3.99	3.78	-7.23	0.01480	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	2.218800	0.01564	N	0.020271	T	0.00967	0.0032	N	0.00707	-1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47005	-0.9150	10	0.02654	T	1	.	5.7333	0.18053	0.0:0.2023:0.4041:0.3936	.	60	P05013	IFNA6_HUMAN	G	60	ENSP00000369558:R60G	ENSP00000369558:R60G	R	-	1	2	IFNA6	21340709	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.106000	0.01338	-0.919000	0.03803	-1.512000	0.00943	AGA		0.522	IFNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051905.1	NM_021002		64	30	0	0	0	0.00361006	0	64	30				
FRG2B	441581	broad.mit.edu	37	10	135440184	135440184	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:135440184C>A	ENST00000425520.1	-	1	115	c.63G>T	c.(61-63)caG>caT	p.Q21H	FRG2B_ENST00000443774.1_Missense_Mutation_p.Q21H	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	21						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGAAAGGGGGCTGGTCAGTGG	0.507																																						ENST00000443774.1																			0				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20						c.(61-63)caG>caT		FSHD region gene 2 family, member B							99.0	127.0	117.0					10																	135440184		2202	4295	6497	SO:0001583	missense	441581					nucleus		g.chr10:135440184C>A	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.63G>T	10.37:g.135440184C>A	ENSP00000401310:p.Gln21His					FRG2B_ENST00000425520.1_Missense_Mutation_p.Q21H	p.Q21H			Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	1	112	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	21					Q5VSQ1	Missense_Mutation	SNP	ENST00000425520.1	37	c.63G>T	CCDS44502.1	.	.	.	.	.	.	.	.	.	.	.	8.103	0.777044	0.16120	.	.	ENSG00000225899	ENST00000443774;ENST00000425520	T;T	0.36699	1.24;1.24	0.109	0.109	0.14578	.	.	.	.	.	T	0.41050	0.1142	L	0.27053	0.805	0.09310	N	1	D	0.60575	0.988	D	0.72338	0.977	T	0.24440	-1.0160	8	0.87932	D	0	-4.297	.	.	.	.	21	Q96QU4	FRG2B_HUMAN	H	21	ENSP00000408343:Q21H;ENSP00000401310:Q21H	ENSP00000401310:Q21H	Q	-	3	2	FRG2B	135290174	0.997000	0.39634	0.047000	0.18901	0.048000	0.14542	0.718000	0.25866	0.181000	0.19994	0.184000	0.17185	CAG		0.507	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		15	170	1	0	5.03518e-11	0.000958276	1.57087e-10	15	170				
TMC2	117532	broad.mit.edu	37	20	2577848	2577848	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr20:2577848C>T	ENST00000358864.1	+	10	1143	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	376					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTGACAACTTCACATTCAGCT	0.507																																						ENST00000358864.1																			0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1126-1128)ttC>ttT		transmembrane channel-like 2							148.0	111.0	123.0					20																	2577848		2203	4300	6503	SO:0001819	synonymous_variant	117532					integral to membrane		g.chr20:2577848C>T	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1128C>T	20.37:g.2577848C>T							p.F376F	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN			10	1143	+			376					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	c.1128C>T	CCDS13029.2																																																																																				0.507	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			18	33	0	0	0	0.000566183	0	18	33				
OR4M2	390538	broad.mit.edu	37	15	22368621	22368621	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:22368621G>T	ENST00000332663.2	+	1	144	c.46G>T	c.(46-48)Ggc>Tgc	p.G16C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGTTCTCACTGGCCTATCCCA	0.333																																						ENST00000332663.2																			0				NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(46-48)Ggc>Tgc		olfactory receptor, family 4, subfamily M, member 2							255.0	225.0	235.0					15																	22368621		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368621G>T	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.46G>T	15.37:g.22368621G>T	ENSP00000329467:p.Gly16Cys					RP11-69H14.6_ENST00000558896.1_RNA	p.G16C	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	144	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	16					B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.46G>T	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	12.97	2.098592	0.37048	.	.	ENSG00000182974	ENST00000332663	T	0.00662	5.93	2.5	2.5	0.30297	.	0.000000	0.48286	D	0.000200	T	0.07007	0.0178	H	0.96833	3.89	0.35191	D	0.773377	D	0.89917	1.0	D	0.91635	0.999	T	0.11131	-1.0600	10	0.87932	D	0	-8.2917	10.8078	0.46529	0.0:0.0:1.0:0.0	.	16	Q8NGB6	OR4M2_HUMAN	C	16	ENSP00000329467:G16C	ENSP00000329467:G16C	G	+	1	0	OR4M2	19869985	1.000000	0.71417	0.999000	0.59377	0.502000	0.33828	7.151000	0.77411	1.422000	0.47177	0.448000	0.29417	GGC		0.333	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			44	135	1	0	1.41504e-22	0.00285205	4.98592e-22	44	135				
DNAH8	1769	broad.mit.edu	37	6	38919096	38919096	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:38919096C>A	ENST00000359357.3	+	80	11854	c.11600C>A	c.(11599-11601)tCt>tAt	p.S3867Y	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.S4084Y|DNAH8_ENST00000441566.1_Missense_Mutation_p.S3831Y			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3867					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTTTTAGGTCTTGGTGCCCA	0.338																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(11599-11601)tCt>tAt		dynein, axonemal, heavy chain 8							86.0	91.0	89.0					6																	38919096		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38919096C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.11600C>A	6.37:g.38919096C>A	ENSP00000352312:p.Ser3867Tyr					RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.S3831Y|DNAH8_ENST00000449981.2_Missense_Mutation_p.S4084Y	p.S3867Y							80	11854	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.11600C>A		.	.	.	.	.	.	.	.	.	.	C	19.04	3.750256	0.69533	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T;T	0.08896	3.04;3.08;3.08;3.08	5.6	5.6	0.85130	Dynein heavy chain (1);	0.254610	0.39020	N	0.001497	T	0.31513	0.0799	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	T	0.31586	-0.9938	10	0.87932	D	0	.	14.7637	0.69623	0.1445:0.8555:0.0:0.0	.	3831;3867	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	Y	4072;4072;3867;3831	ENSP00000415331:S4072Y;ENSP00000333363:S4072Y;ENSP00000352312:S3867Y;ENSP00000402294:S3831Y	ENSP00000333363:S4072Y	S	+	2	0	DNAH8	39027074	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.492000	0.45311	2.791000	0.96007	0.655000	0.94253	TCT		0.338	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		39	61	1	0	9.62906e-15	0.00128727	3.16044e-14	39	61				
EVA1A	84141	broad.mit.edu	37	2	75745218	75745218	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:75745218G>T	ENST00000233712.1	-	3	486	c.49C>A	c.(49-51)Ctc>Atc	p.L17I	EVA1A_ENST00000410010.1_5'Flank|EVA1A_ENST00000393913.3_Missense_Mutation_p.L17I|EVA1A_ENST00000410071.1_Missense_Mutation_p.L17I|EVA1A_ENST00000490746.1_5'UTR|EVA1A_ENST00000410113.1_Missense_Mutation_p.L17I	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	17	Necessary for the localization and biological activity.				apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											ATGTTGCTGAGCAAAGCCATC	0.602																																						ENST00000233712.1																			0											c.(49-51)Ctc>Atc		eva-1 homolog A (C. elegans)							121.0	108.0	112.0					2																	75745218		2203	4300	6503	SO:0001583	missense	84141							g.chr2:75745218G>T	BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.49C>A	2.37:g.75745218G>T	ENSP00000233712:p.Leu17Ile					EVA1A_ENST00000410113.1_Missense_Mutation_p.L17I|EVA1A_ENST00000393913.3_Missense_Mutation_p.L17I|EVA1A_ENST00000410071.1_Missense_Mutation_p.L17I|EVA1A_ENST00000490746.1_5'UTR	p.L17I	NM_032181.2	NP_115557.1					3	486	-								D6W5J3|Q9HC41	Missense_Mutation	SNP	ENST00000233712.1	37	c.49C>A	CCDS1959.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.580328	0.46006	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410071;ENST00000432649;ENST00000452003	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	5.11	4.21	0.49690	.	0.370184	0.31268	N	0.007950	T	0.38081	0.1027	L	0.46885	1.475	0.35450	D	0.795622	B	0.20052	0.041	B	0.14578	0.011	T	0.46233	-0.9206	10	0.44086	T	0.13	-1.7741	8.8523	0.35208	0.1017:0.0:0.8983:0.0	.	17	Q9H8M9	F176A_HUMAN	I	17	ENSP00000377490:L17I;ENSP00000233712:L17I;ENSP00000386435:L17I;ENSP00000386930:L17I;ENSP00000398249:L17I;ENSP00000388105:L17I	ENSP00000233712:L17I	L	-	1	0	FAM176A	75598726	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.108000	0.50337	2.548000	0.85928	0.543000	0.68304	CTC		0.602	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328707.1	NM_032181		40	33	1	0	5.48756e-27	0.00285205	2.0228e-26	40	33				
DOCK2	1794	broad.mit.edu	37	5	169461490	169461490	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:169461490G>A	ENST00000256935.8	+	35	3635	c.3555G>A	c.(3553-3555)ctG>ctA	p.L1185L	DOCK2_ENST00000540750.1_Silent_p.L246L|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.L677L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1185	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAGAAGCTGCTGGATTACC	0.587																																						ENST00000256935.8																			0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(3553-3555)ctG>ctA		dedicator of cytokinesis 2							108.0	104.0	106.0					5																	169461490		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169461490G>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3555G>A	5.37:g.169461490G>A						DOCK2_ENST00000540750.1_Silent_p.L246L|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.L677L	p.L1185L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		35	3635	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1185			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.3555G>A	CCDS4371.1																																																																																				0.587	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		23	13	0	0	0	0.00332997	0	23	13				
MYH8	4626	broad.mit.edu	37	17	10302868	10302868	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:10302868G>C	ENST00000403437.2	-	28	3948	c.3854C>G	c.(3853-3855)aCa>aGa	p.T1285R	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1285					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACCCGCTTCTGTCTGCAGGCG	0.473									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3853-3855)aCa>aGa		myosin, heavy chain 8, skeletal muscle, perinatal							131.0	127.0	128.0					17																	10302868		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10302868G>C		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3854C>G	17.37:g.10302868G>C	ENSP00000384330:p.Thr1285Arg					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.T1285R	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			28	3948	-			1285					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.3854C>G	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318353	0.81469	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.78003	-1.14	5.38	5.38	0.77491	Myosin tail (1);	0.000000	0.42821	U	0.000641	D	0.88295	0.6398	M	0.89904	3.07	0.58432	D	0.999997	P	0.45986	0.87	P	0.52823	0.71	D	0.90161	0.4228	10	0.87932	D	0	.	19.317	0.94218	0.0:0.0:1.0:0.0	.	1285	P13535	MYH8_HUMAN	R	1285	ENSP00000384330:T1285R	ENSP00000252173:T1285R	T	-	2	0	MYH8	10243593	1.000000	0.71417	0.978000	0.43139	0.574000	0.36063	7.690000	0.84178	2.806000	0.96561	0.655000	0.94253	ACA		0.473	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		45	16	0	0	0	0.00361006	0	45	16				
PTPRK	5796	broad.mit.edu	37	6	128385930	128385930	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:128385930T>A	ENST00000368215.3	-	13	2166	c.2167A>T	c.(2167-2169)Acc>Tcc	p.T723S	PTPRK_ENST00000368226.4_Missense_Mutation_p.T723S|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368227.3_Missense_Mutation_p.T723S|PTPRK_ENST00000368213.5_Missense_Mutation_p.T723S|PTPRK_ENST00000532331.1_Missense_Mutation_p.T723S|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Missense_Mutation_p.T723S|PTPRK_ENST00000368210.3_Missense_Mutation_p.T723S			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	723					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ACGCACTGGGTTTTAGTTTCC	0.343																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2167-2169)Acc>Tcc		protein tyrosine phosphatase, receptor type, K							94.0	98.0	97.0					6																	128385930		2203	4300	6503	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128385930T>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2167A>T	6.37:g.128385930T>A	ENSP00000357198:p.Thr723Ser					PTPRK_ENST00000368210.3_Missense_Mutation_p.T723S|PTPRK_ENST00000368207.3_Missense_Mutation_p.T723S|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.T723S|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368213.5_Missense_Mutation_p.T723S|PTPRK_ENST00000532331.1_Missense_Mutation_p.T723S|PTPRK_ENST00000368226.4_Missense_Mutation_p.T723S	p.T723S			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	13	2533	-			723					B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.2167A>T		.	.	.	.	.	.	.	.	.	.	T	19.26	3.792471	0.70452	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	T;T;T;T;T;T;T	0.08896	3.05;3.09;3.1;3.05;3.09;3.04;3.07	5.82	5.82	0.92795	.	0.049070	0.85682	D	0.000000	T	0.02807	0.0084	N	0.22421	0.69	0.46260	D	0.998951	B;B;B;B;B;B	0.31383	0.155;0.215;0.321;0.07;0.067;0.111	B;B;B;B;B;B	0.31946	0.101;0.065;0.138;0.037;0.064;0.135	T	0.49744	-0.8907	10	0.15952	T	0.53	.	16.1832	0.81925	0.0:0.0:0.0:1.0	.	723;723;723;580;723;723	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	S	723;723;723;723;723;723;723;580	ENSP00000357209:T723S;ENSP00000357210:T723S;ENSP00000432973:T723S;ENSP00000357196:T723S;ENSP00000357193:T723S;ENSP00000357198:T723S;ENSP00000357190:T723S	ENSP00000357190:T723S	T	-	1	0	PTPRK	128427623	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.456000	0.80751	2.228000	0.72767	0.533000	0.62120	ACC		0.343	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			17	37	0	0	0	0.00400662	0	17	37				
NTF3	4908	broad.mit.edu	37	12	5604005	5604005	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:5604005G>T	ENST00000331010.6	+	1	708	c.625G>T	c.(625-627)Gat>Tat	p.D209Y	NTF3_ENST00000423158.3_Missense_Mutation_p.D222Y|NTF3_ENST00000535299.1_Intron	NM_002527.4	NP_002518.1	P20783	NTF3_HUMAN	neurotrophin 3	209					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell-cell signaling (GO:0007267)|enteric nervous system development (GO:0048484)|epidermis development (GO:0008544)|glial cell fate determination (GO:0007403)|induction of positive chemotaxis (GO:0050930)|mechanoreceptor differentiation (GO:0042490)|myelination (GO:0042552)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive chemotaxis (GO:0050918)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of synaptic transmission (GO:0050804)|signal transduction (GO:0007165)|smooth muscle cell differentiation (GO:0051145)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular region (GO:0005576)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CAGGGGTATTGATGATAAACA	0.488																																					GBM(194;1104 2182 8339 9578 18493)	ENST00000423158.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						c.(664-666)Gat>Tat		neurotrophin 3							65.0	58.0	60.0					12																	5604005		2203	4300	6503	SO:0001583	missense	4908				signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	g.chr12:5604005G>T		CCDS8538.1, CCDS44806.1	12p13	2014-01-30			ENSG00000185652	ENSG00000185652		"""Endogenous ligands"""	8023	protein-coding gene	gene with protein product		162660				1889806	Standard	NM_002527		Approved	NGF2	uc001qnk.4	P20783	OTTHUMG00000168649	ENST00000331010.6:c.625G>T	12.37:g.5604005G>T	ENSP00000328738:p.Asp209Tyr					NTF3_ENST00000331010.6_Missense_Mutation_p.D209Y|NTF3_ENST00000535299.1_Intron	p.D222Y	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN			2	876	+			209					B7Z1T5|Q6FH50	Missense_Mutation	SNP	ENST00000331010.6	37	c.664G>T	CCDS8538.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910561	0.72983	.	.	ENSG00000185652	ENST00000423158;ENST00000331010	T;T	0.76186	-1.0;-1.0	5.45	5.45	0.79879	Nerve growth factor-related (5);Nerve growth factor conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88051	0.6333	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89621	0.3848	10	0.87932	D	0	-34.8341	18.2818	0.90101	0.0:0.0:1.0:0.0	.	209;222	P20783;B7Z1T5	NTF3_HUMAN;.	Y	222;209	ENSP00000397297:D222Y;ENSP00000328738:D209Y	ENSP00000328738:D209Y	D	+	1	0	NTF3	5474266	1.000000	0.71417	0.971000	0.41717	0.964000	0.63967	9.869000	0.99810	2.583000	0.87209	0.650000	0.86243	GAT		0.488	NTF3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400486.1			99	46	1	0	2.31008e-40	0.00361006	9.01459e-40	99	46				
SORCS1	114815	broad.mit.edu	37	10	108923992	108923992	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:108923992G>T	ENST00000263054.6	-	1	300	c.293C>A	c.(292-294)tCc>tAc	p.S98Y	SORCS1_ENST00000344440.6_Missense_Mutation_p.S98Y	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	98					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AACCGCCATGGATGCCCCAGT	0.726																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(292-294)tCc>tAc		sortilin-related VPS10 domain containing receptor 1							14.0	15.0	15.0					10																	108923992		2191	4282	6473	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923992G>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.293C>A	10.37:g.108923992G>T	ENSP00000263054:p.Ser98Tyr					SORCS1_ENST00000344440.6_Missense_Mutation_p.S98Y	p.S98Y	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	300	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	98					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.293C>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	8.829	0.939413	0.18281	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.18016	2.24;2.26	4.15	1.02	0.19986	.	0.689638	0.12056	N	0.503658	T	0.07324	0.0185	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.22983	0.019;0.078;0.078;0.019;0.032	B;B;B;B;B	0.24155	0.007;0.051;0.016;0.007;0.016	T	0.41645	-0.9497	9	.	.	.	-1.3719	5.6815	0.17778	0.2008:0.1651:0.6342:0.0	.	98;98;98;98;98	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	Y	98	ENSP00000263054:S98Y;ENSP00000345964:S98Y	.	S	-	2	0	SORCS1	108913982	0.026000	0.19158	0.001000	0.08648	0.543000	0.35085	2.090000	0.41682	0.502000	0.28037	0.591000	0.81541	TCC		0.726	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		10	18	1	0	1.76689e-08	0.000442599	5.16278e-08	10	18				
FCRL3	115352	broad.mit.edu	37	1	157665128	157665128	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:157665128T>C	ENST00000368184.3	-	8	1693	c.1402A>G	c.(1402-1404)Agg>Ggg	p.R468G	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.R468G	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	468	Ig-like C2-type 5.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCTGTGACCCTGAGACTCACT	0.488																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(1402-1404)Agg>Ggg		Fc receptor-like 3							181.0	177.0	178.0					1																	157665128		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157665128T>C	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1402A>G	1.37:g.157665128T>C	ENSP00000357167:p.Arg468Gly					FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.R468G	p.R468G	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			8	1693	-	all_hematologic(112;0.0378)		468			Ig-like C2-type 5.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.1402A>G	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.544168	0.27563	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.03413	3.94;3.94	4.72	1.89	0.25635	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.171590	0.02122	N	0.055716	T	0.00666	0.0022	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.11329	0.002;0.001;0.006	T	0.45116	-0.9283	10	0.36615	T	0.2	.	4.2201	0.10554	0.2608:0.0:0.1812:0.558	.	468;373;468	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	G	468	ENSP00000357169:R468G;ENSP00000357167:R468G	ENSP00000292392:R468G	R	-	1	2	FCRL3	155931752	0.148000	0.22702	0.009000	0.14445	0.073000	0.16967	1.136000	0.31467	0.719000	0.32188	0.460000	0.39030	AGG		0.488	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		4	194	0	0	0	0.00024832	0	4	194				
ALAS2	212	broad.mit.edu	37	X	55042056	55042056	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:55042056G>A	ENST00000330807.5	-	8	1260	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C	ALAS2_ENST00000396198.3_Missense_Mutation_p.R362C|ALAS2_ENST00000335854.4_Missense_Mutation_p.R338C|ALAS2_ENST00000498636.1_5'UTR	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	375			R -> C (in XLSA; significantly reduced activity). {ECO:0000269|PubMed:21309041}.		cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)	p.R375C(1)|p.R362C(1)		central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	ATTCCATCACGCTCCCCAATC	0.522																																						ENST00000330807.5																			2	Substitution - Missense(2)	p.R375C(1)|p.R362C(1)	kidney(2)	central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(1123-1125)Cgt>Tgt		aminolevulinate, delta-, synthase 2	Glycine(DB00145)						95.0	83.0	87.0					X																	55042056		2203	4300	6503	SO:0001583	missense	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55042056G>A		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1123C>T	X.37:g.55042056G>A	ENSP00000332369:p.Arg375Cys					ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000335854.4_Missense_Mutation_p.R338C|ALAS2_ENST00000396198.3_Missense_Mutation_p.R362C	p.R375C	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN			8	1260	-			375					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	ENST00000330807.5	37	c.1123C>T	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812052	0.70797	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.91577	-2.87;-2.87;-2.87	5.75	5.75	0.90469	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.96815	0.8960	H	0.96805	3.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	D	0.97583	1.0112	10	0.87932	D	0	-8.2479	12.8942	0.58089	0.0:0.0:0.8374:0.1625	.	338;362;375	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	C	375;362;338	ENSP00000332369:R375C;ENSP00000379501:R362C;ENSP00000337131:R338C	ENSP00000332369:R375C	R	-	1	0	ALAS2	55058781	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.161000	0.64935	2.576000	0.86940	0.594000	0.82650	CGT		0.522	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		28	15	0	0	0	0.000878237	0	28	15				
CEP85L	387119	broad.mit.edu	37	6	118802981	118802981	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:118802981T>A	ENST00000368491.3	-	8	2327	c.1706A>T	c.(1705-1707)cAg>cTg	p.Q569L	CEP85L_ENST00000368488.5_Missense_Mutation_p.Q572L	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	569						centrosome (GO:0005813)|cytoplasm (GO:0005737)											TTTCTTTTTCTGGCATATTAA	0.279																																						ENST00000368491.3																			0											c.(1705-1707)cAg>cTg		centrosomal protein 85kDa-like							61.0	52.0	55.0					6																	118802981		1793	4059	5852	SO:0001583	missense	387119					centrosome		g.chr6:118802981T>A	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.1706A>T	6.37:g.118802981T>A	ENSP00000357477:p.Gln569Leu					CEP85L_ENST00000368488.5_Missense_Mutation_p.Q572L	p.Q569L	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN			8	2327	-			569					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.1706A>T	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	T	10.55	1.380575	0.24944	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604	T;T;T	0.09255	3.0;3.0;3.0	5.05	5.05	0.67936	.	0.068465	0.64402	D	0.000013	T	0.03011	0.0089	L	0.35414	1.06	0.46981	D	0.99927	B;B	0.24186	0.099;0.099	B;B	0.26202	0.067;0.067	T	0.09840	-1.0656	10	0.05436	T	0.98	-11.3922	14.7485	0.69508	0.0:0.0:0.0:1.0	.	572;569	F8W6J2;Q5SZL2	.;CF204_HUMAN	L	569;572;572	ENSP00000357477:Q569L;ENSP00000357474:Q572L;ENSP00000392131:Q572L	ENSP00000357474:Q572L	Q	-	2	0	C6orf204	118909674	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.384000	0.73177	2.017000	0.59298	0.459000	0.35465	CAG		0.279	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		6	15	0	0	0	0.00116845	0	6	15				
PRRT2	112476	broad.mit.edu	37	16	29825272	29825272	+	Intron	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:29825272C>G	ENST00000358758.7	+	2	1162				PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000567659.1_Intron|AC009133.14_ENST00000569981.1_RNA|PAGR1_ENST00000320330.6_5'Flank|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000300797.6_Silent_p.P299P	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2						neuromuscular process controlling posture (GO:0050884)|response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						CCATGGGACCCTAGCCCAGGC	0.597																																						ENST00000300797.6																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						c.(895-897)ccC>ccG		proline-rich transmembrane protein 2							67.0	63.0	64.0					16																	29825272		2197	4300	6497	SO:0001627	intron_variant	112476				response to biotic stimulus	integral to membrane		g.chr16:29825272C>G	BC011405	CCDS10654.1, CCDS58445.1, CCDS58446.1	16p11.2	2014-02-03			ENSG00000167371	ENSG00000167371		"""Proline-rich transmembrane proteins"""	30500	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 1"""	614386	"""infantile convulsions and paroxysmal choreoathetosis"""	ICCA		22101681, 22243967	Standard	NM_145239		Approved	FLJ25513, DKFZp547J199, IFITMD1, FICCA	uc002dud.3	Q7Z6L0	OTTHUMG00000177142	ENST00000358758.7:c.879+18C>G	16.37:g.29825272C>G						PRRT2_ENST00000358758.7_Intron|PRRT2_ENST00000567659.1_Intron|AC009133.20_ENST00000569039.1_RNA	p.P299P			Q7Z6L0	PRRT2_HUMAN			2	1071	+			0					A8K8M8|Q8N2N8|Q8NAQ7|Q8ND36|Q96FA8	Silent	SNP	ENST00000358758.7	37	c.897C>G	CCDS10654.1																																																																																				0.597	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	NM_145239		20	72	0	0	0	0.00152264	0	20	72				
KIAA1467	57613	broad.mit.edu	37	12	13224192	13224192	+	Silent	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr12:13224192T>A	ENST00000197268.8	+	10	1506	c.1386T>A	c.(1384-1386)ggT>ggA	p.G462G		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	462						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TTGTGGATGGTGACTCTGGCT	0.478																																						ENST00000197268.8																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.(1384-1386)ggT>ggA		KIAA1467							149.0	146.0	147.0					12																	13224192		2203	4300	6503	SO:0001819	synonymous_variant	57613					integral to membrane		g.chr12:13224192T>A	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.1386T>A	12.37:g.13224192T>A							p.G462G	NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	10	1506	+		Prostate(47;0.184)	462					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Silent	SNP	ENST00000197268.8	37	c.1386T>A	CCDS31750.1																																																																																				0.478	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		90	247	0	0	0	0.00361006	0	90	247				
APC	324	broad.mit.edu	37	5	112175215	112175215	+	Silent	SNP	A	A	G	rs121913224		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:112175215A>G	ENST00000457016.1	+	16	4304	c.3924A>G	c.(3922-3924)aaA>aaG	p.K1308K	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.K1308K|APC_ENST00000508376.2_Silent_p.K1308K			P25054	APC_HUMAN	adenomatous polyposis coli	1308	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E1309fs*6(50)|p.E1309fs*4(37)|p.I1307fs*6(12)|p.?(1)|p.E1309fs*5(1)|p.K1192fs*3(1)|p.K1308fs*4(1)|p.I1307fs*13(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAGAAATAAAAGAAAAGATTG	0.428		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		104	Deletion - Frameshift(53)|Insertion - Frameshift(50)|Unknown(1)	p.E1309fs*6(50)|p.E1309fs*4(37)|p.I1307fs*6(12)|p.?(1)|p.E1309fs*5(1)|p.K1192fs*3(1)|p.K1308fs*4(1)|p.I1307fs*13(1)	large_intestine(100)|stomach(2)|soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261	GRCh37	CD972006	APC	D		c.(3922-3924)aaA>aaG		adenomatous polyposis coli							53.0	55.0	54.0					5																	112175215		2202	4300	6502	SO:0001819	synonymous_variant	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175215A>G	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3924A>G	5.37:g.112175215A>G		TSP Lung(16;0.13)				APC_ENST00000508376.2_Silent_p.K1308K|APC_ENST00000257430.4_Silent_p.K1308K|CTC-554D6.1_ENST00000520401.1_Intron	p.K1308K			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4304	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1308			Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	c.3924A>G	CCDS4107.1																																																																																				0.428	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		30	6	0	0	0	0.001512	0	30	6				
PITPNM3	83394	broad.mit.edu	37	17	6377866	6377866	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:6377866G>T	ENST00000262483.8	-	10	1231	c.1144C>A	c.(1144-1146)Ctc>Atc	p.L382I	PITPNM3_ENST00000576664.1_5'Flank|PITPNM3_ENST00000421306.3_Missense_Mutation_p.L346I	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	382					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		ACCTCAGGGAGCTGCGGCCCC	0.667																																						ENST00000262483.8																			0											c.(1144-1146)Ctc>Atc									27.0	24.0	25.0					17																	6377866		2192	4296	6488	SO:0001583	missense	83394							g.chr17:6377866G>T	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1144C>A	17.37:g.6377866G>T	ENSP00000262483:p.Leu382Ile					ACKR6_ENST00000421306.3_Missense_Mutation_p.L346I	p.L382I	NM_031220.3	NP_112497.2					10	1231	-								A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	c.1144C>A	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568777	0.65765	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.49432	0.8;0.78	5.15	4.17	0.49024	.	0.443293	0.24774	N	0.035711	T	0.39118	0.1066	L	0.43152	1.355	0.36321	D	0.858236	B;B	0.15719	0.014;0.009	B;B	0.16722	0.016;0.01	T	0.39143	-0.9628	10	0.34782	T	0.22	-24.9007	10.7572	0.46243	0.0:0.0:0.6543:0.3457	.	346;382	F8WEW5;Q9BZ71	.;PITM3_HUMAN	I	382;346	ENSP00000262483:L382I;ENSP00000407882:L346I	ENSP00000262483:L382I	L	-	1	0	PITPNM3	6318590	0.162000	0.22906	0.789000	0.31954	0.766000	0.43426	0.675000	0.25232	1.114000	0.41781	0.563000	0.77884	CTC		0.667	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		9	3	1	0	0.000274275	0.000274275	0.000722157	9	3				
RB1	5925	broad.mit.edu	37	13	48881512	48881512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr13:48881512G>A	ENST00000267163.4	+	2	372	c.234G>A	c.(232-234)tgG>tgA	p.W78*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	78					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.W78*(3)|p.?(3)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GGTTAACTTGGGAGAAAGTTT	0.323		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		21	Whole gene deletion(15)|Substitution - Nonsense(3)|Unknown(3)	p.0?(15)|p.W78*(3)|p.?(3)	bone(11)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|eye(1)|soft_tissue(1)|endometrium(1)|lung(1)|skin(1)|stomach(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(232-234)tgG>tgA		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						136.0	138.0	137.0					13																	48881512		2203	4299	6502	SO:0001587	stop_gained	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48881512G>A	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.234G>A	13.37:g.48881512G>A	ENSP00000267163:p.Trp78*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.W78*	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	2	372	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	78					A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.234G>A	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	37	5.989199	0.97179	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	4.86	4.86	0.63082	.	0.135639	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2922	13.8493	0.63487	0.0:0.0:1.0:0.0	.	.	.	.	X	57;78	.	ENSP00000267163:W78X	W	+	3	0	RB1	47779513	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.967000	0.49216	2.401000	0.81631	0.650000	0.86243	TGG		0.323	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			50	15	0	0	0	0.00361006	0	50	15				
C8A	731	broad.mit.edu	37	1	57349196	57349196	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:57349196G>T	ENST00000361249.3	+	6	793	c.697G>T	c.(697-699)Gca>Tca	p.A233S		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	233	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TTATGATAATGCAAATGACCT	0.423																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(697-699)Gca>Tca		complement component 8, alpha polypeptide							71.0	74.0	73.0					1																	57349196		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57349196G>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.697G>T	1.37:g.57349196G>T	ENSP00000354458:p.Ala233Ser						p.A233S	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			6	793	+			233			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.697G>T	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593603	0.46214	.	.	ENSG00000157131	ENST00000361249	T	0.74842	-0.88	5.84	2.89	0.33648	Membrane attack complex component/perforin (MACPF) domain (1);	0.680161	0.15809	N	0.243595	T	0.57110	0.2031	L	0.35487	1.065	0.33031	D	0.53015	B	0.24368	0.102	B	0.17433	0.018	T	0.54788	-0.8241	10	0.13108	T	0.6	-2.5412	7.0253	0.24936	0.1369:0.0:0.5759:0.2872	.	233	P07357	CO8A_HUMAN	S	233	ENSP00000354458:A233S	ENSP00000354458:A233S	A	+	1	0	C8A	57121784	0.676000	0.27567	0.683000	0.30040	0.827000	0.46813	0.751000	0.26348	0.834000	0.34852	0.591000	0.81541	GCA		0.423	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		14	45	1	0	0.000308642	0.00316338	0.000809088	14	45				
DPP10	57628	broad.mit.edu	37	2	116534814	116534814	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:116534814C>A	ENST00000410059.1	+	14	1732	c.1252C>A	c.(1252-1254)Ctg>Atg	p.L418M	DPP10_ENST00000393147.2_Missense_Mutation_p.L422M|DPP10_ENST00000409163.1_Missense_Mutation_p.L368M|DPP10_ENST00000310323.8_Missense_Mutation_p.L411M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	418						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CGTGCGGCATCTGACATCAGG	0.378																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1252-1254)Ctg>Atg		dipeptidyl-peptidase 10 (non-functional)							118.0	113.0	115.0					2																	116534814		2203	4299	6502	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116534814C>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1252C>A	2.37:g.116534814C>A	ENSP00000386565:p.Leu418Met					DPP10_ENST00000409163.1_Missense_Mutation_p.L368M|DPP10_ENST00000393147.2_Missense_Mutation_p.L422M|DPP10_ENST00000310323.8_Missense_Mutation_p.L411M	p.L418M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			14	1732	+			418					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1252C>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745421	0.69418	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	4.97	4.09	0.47781	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.64402	D	0.000002	T	0.69878	0.3160	M	0.93062	3.375	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.995;0.999;0.996;0.997	T	0.76661	-0.2877	10	0.72032	D	0.01	-26.2753	11.2999	0.49300	0.0:0.911:0.0:0.089	.	411;422;414;418	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	M	418;368;422;411;368	ENSP00000386565:L418M;ENSP00000387038:L368M;ENSP00000376855:L422M;ENSP00000309066:L411M	ENSP00000309066:L411M	L	+	1	2	DPP10	116251284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.428000	0.34892	1.446000	0.47643	0.655000	0.94253	CTG		0.378	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		9	20	1	0	3.86212e-05	0.000673444	0.000103508	9	20				
UNC5D	137970	broad.mit.edu	37	8	35542267	35542267	+	Splice_Site	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:35542267G>T	ENST00000404895.2	+	6	1247	c.919G>T	c.(919-921)Gtg>Ttg	p.V307L	UNC5D_ENST00000453357.2_Splice_Site_p.V302L|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000416672.1_Splice_Site_p.V307L	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	307					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCTTTGTCCTGGTGAGATATA	0.463																																						ENST00000453357.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.e6+1		unc-5 homolog D (C. elegans)							148.0	133.0	138.0					8																	35542267		2203	4300	6503	SO:0001630	splice_region_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35542267G>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.919+1G>T	8.37:g.35542267G>T						UNC5D_ENST00000404895.2_Splice_Site_p.V307_splice|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000416672.1_Splice_Site_p.V307_splice	p.V302_splice			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	6	960	+			307			TSP type-1 1.		Q8WYP7	Splice_Site	SNP	ENST00000404895.2	37	c.904_splice	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580739	0.65992	.	.	ENSG00000156687	ENST00000404895;ENST00000416672;ENST00000453357	T;T;T	0.21191	2.02;2.02;2.02	5.39	5.39	0.77823	.	0.052997	0.85682	D	0.000000	T	0.37945	0.1022	M	0.87097	2.86	0.80722	D	1	B;P;P	0.49185	0.344;0.899;0.92	B;B;B	0.43889	0.134;0.419;0.435	T	0.45862	-0.9232	10	0.45353	T	0.12	-18.1999	19.5354	0.95251	0.0:0.0:1.0:0.0	.	307;302;307	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	L	307;307;302	ENSP00000385143:V307L;ENSP00000412652:V307L;ENSP00000394303:V302L	ENSP00000385143:V307L	V	+	1	0	UNC5D	35661809	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.009000	0.88606	2.709000	0.92574	0.655000	0.94253	GTG		0.463	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2		Missense_Mutation	24	44	1	0	6.36457e-07	0.00395357	1.78566e-06	24	44				
TECTA	7007	broad.mit.edu	37	11	121032985	121032985	+	Missense_Mutation	SNP	G	G	T	rs370060581		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:121032985G>T	ENST00000392793.1	+	16	5449	c.5178G>T	c.(5176-5178)aaG>aaT	p.K1726N	TECTA_ENST00000264037.2_Missense_Mutation_p.K1726N			O75443	TECTA_HUMAN	tectorin alpha	1726					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACAGCCACAAGAAGTTCCAGC	0.592																																						ENST00000392793.1																		TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(5176-5178)aaG>aaT		tectorin alpha		G	ASN/LYS	1,4405		0,1,2202	48.0	47.0	48.0		5178	2.6	1.0	11		48	0,8598		0,0,4299	no	missense	TECTA	NM_005422.2	94	0,1,6501	TT,TG,GG		0.0,0.0227,0.0077	benign	1726/2156	121032985	1,13003	2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121032985G>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.5178G>T	11.37:g.121032985G>T	ENSP00000376543:p.Lys1726Asn					TECTA_ENST00000264037.2_Missense_Mutation_p.K1726N	p.K1726N			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	16	5449	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1726						Missense_Mutation	SNP	ENST00000392793.1	37	c.5178G>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	9.770	1.172499	0.21704	2.27E-4	0.0	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.76448	-1.02;-1.02	5.54	2.57	0.30868	Uncharacterised domain, cysteine-rich (2);	0.434151	0.25332	N	0.031433	T	0.54775	0.1879	N	0.11870	0.19	0.33957	D	0.645206	B	0.06786	0.001	B	0.10450	0.005	T	0.53739	-0.8396	10	0.17832	T	0.49	.	6.9003	0.24279	0.1865:0.136:0.6775:0.0	.	1726	O75443	TECTA_HUMAN	N	1726	ENSP00000376543:K1726N;ENSP00000264037:K1726N	ENSP00000264037:K1726N	K	+	3	2	TECTA	120538195	0.938000	0.31826	1.000000	0.80357	0.968000	0.65278	0.737000	0.26144	1.293000	0.44690	0.650000	0.86243	AAG		0.592	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		21	37	1	0	1.00905e-13	0.00121646	3.25832e-13	21	37				
TPTE	7179	broad.mit.edu	37	21	10969098	10969098	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr21:10969098G>T	ENST00000361285.4	-	7	479	c.150C>A	c.(148-150)gcC>gcA	p.A50A	TPTE_ENST00000342420.5_Intron|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Intron	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	50					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTGACACCCGGGCTGCTCCTT	0.463																																						ENST00000361285.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(148-150)gcC>gcA		transmembrane phosphatase with tensin homology							220.0	210.0	213.0					21																	10969098		2203	4300	6503	SO:0001819	synonymous_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10969098G>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.150C>A	21.37:g.10969098G>T						TPTE_ENST00000342420.5_Intron|TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Intron	p.A50A	NM_199261.2	NP_954870.2	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	7	479	-			50					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	c.150C>A	CCDS13560.2																																																																																				0.463	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			16	101	1	0	3.41278e-10	0.000566183	1.05374e-09	16	101				
NALCN	259232	broad.mit.edu	37	13	102047697	102047697	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr13:102047697C>A	ENST00000251127.6	-	3	209	c.128G>T	c.(127-129)cGc>cTc	p.R43L	NALCN_ENST00000376200.5_Missense_Mutation_p.R43L|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.R43L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	43					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCACAGATGCGCAGCAAAGA	0.433																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(127-129)cGc>cTc		sodium leak channel, non-selective							123.0	100.0	108.0					13																	102047697		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102047697C>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.128G>T	13.37:g.102047697C>A	ENSP00000251127:p.Arg43Leu					NALCN_ENST00000376200.5_Missense_Mutation_p.R43L|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.R43L	p.R43L	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			3	209	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		43					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.128G>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384989	0.95967	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.96745	-4.11;-4.11;-4.11	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.97436	0.9161	M	0.69823	2.125	0.80722	D	1	D;D	0.57257	0.979;0.979	P;P	0.57204	0.716;0.815	D	0.97366	0.9973	10	0.54805	T	0.06	.	19.7619	0.96323	0.0:1.0:0.0:0.0	.	43;43	F2Z323;Q8IZF0	.;NALCN_HUMAN	L	43	ENSP00000251127:R43L;ENSP00000365367:R43L;ENSP00000365373:R43L	ENSP00000251127:R43L	R	-	2	0	NALCN	100845698	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.487000	0.81328	2.681000	0.91329	0.561000	0.74099	CGC		0.433	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		39	11	1	0	2.35958e-20	0.00222228	8.16989e-20	39	11				
RAPGEF2	9693	broad.mit.edu	37	4	160273853	160273853	+	Silent	SNP	C	C	T	rs372527845	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:160273853C>T	ENST00000264431.4	+	21	3818	c.3399C>T	c.(3397-3399)ccC>ccT	p.P1133P		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1133	Ser-rich.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTTTGGCTCCCAGTGGTACTG	0.378																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(3397-3399)ccC>ccT		Rap guanine nucleotide exchange factor (GEF) 2							96.0	89.0	91.0					4																	160273853		1877	4100	5977	SO:0001819	synonymous_variant	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160273853C>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3399C>T	4.37:g.160273853C>T							p.P1133P	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	21	3818	+	all_hematologic(180;0.24)		1133			Ser-rich.		D3DP27	Silent	SNP	ENST00000264431.4	37	c.3399C>T	CCDS43277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.684|9.684	1.150203|1.150203	0.21371|0.21371	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000510253|ENST00000505026	.|.	.|.	.|.	6.07|6.07	2.03|2.03	0.26663|0.26663	.|.	0.224265|.	0.47852|.	N|.	0.000201|.	T|.	0.44265|.	0.1285|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.24799|.	-1.0150|.	6|.	0.59425|.	D|.	0.04|.	.|.	2.7322|2.7322	0.05230|0.05230	0.1263:0.4765:0.1341:0.2631|0.1263:0.4765:0.1341:0.2631	.|.	.|.	.|.	.|.	L|X	190|68	.|.	ENSP00000421083:P190L|.	P|Q	+|+	2|1	0|0	RAPGEF2|RAPGEF2	160493303|160493303	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.419000|0.419000	0.21247|0.21247	0.389000|0.389000	0.25086|0.25086	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.378	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		22	12	0	0	0	0.00278032	0	22	12				
KCNA3	3738	broad.mit.edu	37	1	111216927	111216927	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:111216927T>C	ENST00000369769.2	-	1	728	c.505A>G	c.(505-507)Atc>Gtc	p.I169V		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	169					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GGCCGGCGGATGCGGCCCCCG	0.632																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(505-507)Atc>Gtc		potassium voltage-gated channel, shaker-related subfamily, member 3							54.0	64.0	60.0					1																	111216927		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216927T>C	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.505A>G	1.37:g.111216927T>C	ENSP00000358784:p.Ile169Val						p.I169V	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	728	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	169					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.505A>G	CCDS828.2	.	.	.	.	.	.	.	.	.	.	T	11.83	1.756485	0.31137	.	.	ENSG00000177272	ENST00000369769	T	0.75704	-0.96	4.8	2.24	0.28232	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.059612	0.64402	U	0.000003	T	0.50326	0.1609	L	0.41236	1.265	0.52099	D	0.999941	B	0.16396	0.017	B	0.24006	0.05	T	0.53613	-0.8414	10	0.54805	T	0.06	.	10.8103	0.46543	0.0:0.0:0.302:0.698	.	169	P22001	KCNA3_HUMAN	V	169	ENSP00000358784:I169V	ENSP00000358784:I169V	I	-	1	0	KCNA3	111018450	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.178000	0.42519	0.660000	0.30964	0.459000	0.35465	ATC		0.632	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		48	68	0	0	0	0.00361006	0	48	68				
TTC13	79573	broad.mit.edu	37	1	231047215	231047215	+	Splice_Site	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:231047215C>T	ENST00000366661.4	-	20	2317		c.e20+1		TTC13_ENST00000414259.1_Splice_Site|TTC13_ENST00000366662.4_Splice_Site	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13											central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATATTACTTACCTGGATCCTC	0.313																																						ENST00000366661.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39						c.e20+1		tetratricopeptide repeat domain 13							32.0	35.0	34.0					1																	231047215		2200	4280	6480	SO:0001630	splice_region_variant	79573						binding	g.chr1:231047215C>T		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.2309+1G>A	1.37:g.231047215C>T						TTC13_ENST00000366662.4_Splice_Site|TTC13_ENST00000414259.1_Splice_Site		NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	20	2317	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)						B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Splice_Site	SNP	ENST00000366661.4	37		CCDS1588.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382193	0.82792	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4157	0.94697	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTC13	229113838	1.000000	0.71417	0.999000	0.59377	0.914000	0.54420	7.178000	0.77657	2.655000	0.90218	0.591000	0.81541	.		0.313	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525	Intron	8	14	0	0	0	0.000274275	0	8	14				
SPTBN5	51332	broad.mit.edu	37	15	42159161	42159161	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:42159161G>A	ENST00000320955.6	-	36	6703	c.6476C>T	c.(6475-6477)aCc>aTc	p.T2159I	MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2159					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCTGACCTGGGTTGCGGCCTG	0.647																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(6475-6477)aCc>aTc		spectrin, beta, non-erythrocytic 5							9.0	13.0	11.0					15																	42159161		2083	4172	6255	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42159161G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.6476C>T	15.37:g.42159161G>A	ENSP00000317790:p.Thr2159Ile						p.T2159I	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	36	6703	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	2159						Missense_Mutation	SNP	ENST00000320955.6	37	c.6476C>T		.	.	.	.	.	.	.	.	.	.	.	10.97	1.502585	0.26949	.	.	ENSG00000137877	ENST00000320955	T	0.35421	1.31	4.61	0.242	0.15498	.	0.830226	0.10530	N	0.663896	T	0.25938	0.0632	L	0.41027	1.25	0.09310	N	1	B	0.18461	0.028	B	0.23275	0.045	T	0.28170	-1.0052	10	0.44086	T	0.13	.	3.8032	0.08767	0.0928:0.2441:0.5147:0.1485	.	2159	Q9NRC6	SPTN5_HUMAN	I	2159	ENSP00000317790:T2159I	ENSP00000317790:T2159I	T	-	2	0	SPTBN5	39946453	0.132000	0.22450	0.052000	0.19188	0.024000	0.10985	0.754000	0.26390	-0.236000	0.09753	0.462000	0.41574	ACC		0.647	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		6	4	0	0	0	0.00198382	0	6	4				
TXNDC5	81567	broad.mit.edu	37	6	7884653	7884653	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:7884653G>A	ENST00000379757.4	-	9	1152	c.1115C>T	c.(1114-1116)gCg>gTg	p.A372V	TXNDC5_ENST00000539054.1_Missense_Mutation_p.A300V|TXNDC5_ENST00000473453.1_Missense_Mutation_p.A264V|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	372	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					CTTGACCCCCGCCAGACCAGG	0.488																																					Ovarian(119;1430 1625 3928 26125 34589)	ENST00000539054.1																			0											c.(898-900)gCg>gTg									125.0	108.0	114.0					6																	7884653		2203	4300	6503	SO:0001583	missense	100526836							g.chr6:7884653G>A	AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.1115C>T	6.37:g.7884653G>A	ENSP00000369081:p.Ala372Val					BLOC1S5-TXNDC5_ENST00000604490.1_Missense_Mutation_p.A264V|TXNDC5_ENST00000379757.4_Missense_Mutation_p.A372V|TXNDC5_ENST00000473453.1_Missense_Mutation_p.A264V	p.A300V							9	898	-								B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Missense_Mutation	SNP	ENST00000379757.4	37	c.899C>T	CCDS4505.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296711	0.40594	.	.	ENSG00000239264	ENST00000539054;ENST00000379757;ENST00000473453	T;T;T	0.22336	1.96;1.96;1.96	5.75	5.75	0.90469	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.251040	0.45126	D	0.000389	T	0.10337	0.0253	L	0.48877	1.53	0.34449	D	0.70051	B;P	0.46706	0.039;0.883	B;B	0.41466	0.009;0.358	T	0.08848	-1.0702	10	0.35671	T	0.21	.	9.7891	0.40695	0.0727:0.1411:0.7862:0.0	.	300;372	Q86UY0;Q8NBS9	.;TXND5_HUMAN	V	300;372;264	ENSP00000442453:A300V;ENSP00000369081:A372V;ENSP00000420784:A264V	ENSP00000442453:A300V	A	-	2	0	TXNDC5	7829652	1.000000	0.71417	0.939000	0.37840	0.358000	0.29455	5.443000	0.66581	2.708000	0.92522	0.650000	0.86243	GCG		0.488	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1	NM_030810		41	104	0	0	0	0.00148497	0	41	104				
ENPP4	22875	broad.mit.edu	37	6	46108938	46108938	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:46108938C>T	ENST00000321037.4	+	3	1206	c.976C>T	c.(976-978)Cta>Tta	p.L326L		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	326					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GACAATTGTGCTAAATGAATC	0.338																																						ENST00000321037.4																			0				central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						c.(976-978)Cta>Tta		ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)							89.0	77.0	81.0					6																	46108938		2203	4298	6501	SO:0001819	synonymous_variant	22875					integral to membrane	hydrolase activity	g.chr6:46108938C>T	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.976C>T	6.37:g.46108938C>T							p.L326L	NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN			3	1206	+			326					A8K5G1|Q7L2N1	Silent	SNP	ENST00000321037.4	37	c.976C>T	CCDS34468.1																																																																																				0.338	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			19	19	0	0	0	0.000958276	0	19	19				
FLI1	2313	broad.mit.edu	37	11	128628193	128628193	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:128628193C>T	ENST00000527786.2	+	2	691	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	FLI1_ENST00000534087.2_Missense_Mutation_p.R35W|FLI1_ENST00000344954.6_Missense_Mutation_p.R35W|FLI1_ENST00000525560.1_5'UTR	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	68					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R68W(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CAACGTCAAGCGGGAGTATGA	0.587			T	EWSR1	Ewing sarcoma																																	ENST00000344954.6				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	1	Substitution - Missense(1)	p.R68W(1)	lung(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(103-105)Cgg>Tgg		Fli-1 proto-oncogene, ETS transcription factor							67.0	71.0	70.0					11																	128628193		2113	4225	6338	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128628193C>T	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.202C>T	11.37:g.128628193C>T	ENSP00000433488:p.Arg68Trp					FLI1_ENST00000534087.1_Missense_Mutation_p.R35W|FLI1_ENST00000525560.1_5'UTR|FLI1_ENST00000429175.2_Missense_Mutation_p.R68W|FLI1_ENST00000527767.2_3'UTR	p.R35W			Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	2	491	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	68					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.103C>T	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729646	0.69074	.	.	ENSG00000151702	ENST00000344954;ENST00000429175;ENST00000534087	T;T;T	0.18502	2.31;2.21;2.31	5.17	1.69	0.24217	.	0.379734	0.28606	N	0.014748	T	0.31638	0.0803	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.69654	0.965;0.676	T	0.09314	-1.0680	10	0.72032	D	0.01	.	15.2185	0.73288	0.499:0.501:0.0:0.0	.	68;35	Q01543;B4DTC6	FLI1_HUMAN;.	W	35;68;35	ENSP00000339627:R35W;ENSP00000399985:R68W;ENSP00000432950:R35W	ENSP00000339627:R35W	R	+	1	2	FLI1	128133403	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.897000	0.28390	0.504000	0.28082	0.561000	0.74099	CGG		0.587	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		8	17	0	0	0	0.000442599	0	8	17				
UBR5	51366	broad.mit.edu	37	8	103297762	103297762	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:103297762G>C	ENST00000520539.1	-	39	6069	c.5463C>G	c.(5461-5463)taC>taG	p.Y1821*	UBR5_ENST00000521922.1_Nonsense_Mutation_p.Y1815*|UBR5_ENST00000519528.1_5'Flank|UBR5_ENST00000220959.4_Nonsense_Mutation_p.Y1821*	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1821					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTGCATCTTGGTAAGTCAATT	0.373																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(5461-5463)taC>taG		ubiquitin protein ligase E3 component n-recognin 5							117.0	112.0	113.0					8																	103297762		2203	4300	6503	SO:0001587	stop_gained	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103297762G>C	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.5463C>G	8.37:g.103297762G>C	ENSP00000429084:p.Tyr1821*					UBR5_ENST00000521922.1_Nonsense_Mutation_p.Y1815*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.Y1821*	p.Y1821*	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		39	6069	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1821					B2RP24|J3KMW7|O94970|Q9NPL3	Nonsense_Mutation	SNP	ENST00000520539.1	37	c.5463C>G	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	48	14.718173	0.99807	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	.	.	.	5.4	1.54	0.23209	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4346	0.44428	0.4052:0.0:0.5948:0.0	.	.	.	.	X	1821;1821;1815	.	ENSP00000220959:Y1821X	Y	-	3	2	UBR5	103366938	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.924000	0.28777	0.345000	0.23873	0.563000	0.77884	TAC		0.373	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		11	69	0	0	0	0.000978159	0	11	69				
SYN2	6854	broad.mit.edu	37	3	12225013	12225013	+	RNA	SNP	A	A	G	rs564221426		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:12225013A>G	ENST00000432424.2	+	0	1682							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						GGGGAGGGGAAAACAGACCCT	0.448																																						ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II																																						6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12225013A>G		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12225013A>G										Q86VA8	Q86VA8_HUMAN			0	1682	+								A8MY98	RNA	SNP	ENST00000432424.2	37																																																																																						0.448	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		7	2	0	0	0	0.00198382	0	7	2				
GABRA2	2555	broad.mit.edu	37	4	46252554	46252554	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:46252554G>C	ENST00000510861.1	-	10	1300	c.1127C>G	c.(1126-1128)cCg>cGg	p.P376R	GABRA2_ENST00000514090.1_Missense_Mutation_p.P376R|GABRA2_ENST00000356504.1_Missense_Mutation_p.P376R|GABRA2_ENST00000381620.4_Missense_Mutation_p.P376R|GABRA2_ENST00000507069.1_Missense_Mutation_p.P436R|GABRA2_ENST00000540012.1_Missense_Mutation_p.P381R			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	376					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TGAAAGATTCGGGGCATAATT	0.418																																						ENST00000510861.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(1126-1128)cCg>cGg		gamma-aminobutyric acid (GABA) A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						124.0	125.0	124.0					4																	46252554		2203	4299	6502	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46252554G>C		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1127C>G	4.37:g.46252554G>C	ENSP00000421828:p.Pro376Arg					GABRA2_ENST00000540012.1_Missense_Mutation_p.P381R|GABRA2_ENST00000381620.4_Missense_Mutation_p.P376R|GABRA2_ENST00000514090.1_Missense_Mutation_p.P376R|GABRA2_ENST00000507069.1_Missense_Mutation_p.P436R|GABRA2_ENST00000356504.1_Missense_Mutation_p.P376R	p.P376R			P47869	GBRA2_HUMAN			10	1300	-			376					A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.1127C>G	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.011830	0.54468	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99;-1.99	5.96	5.96	0.96718	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.89515	0.6737	L	0.48362	1.52	0.52501	D	0.999952	D;B	0.76494	0.999;0.022	D;B	0.68621	0.959;0.017	D	0.85652	0.1283	10	0.22109	T	0.4	.	19.3998	0.94623	0.0:0.0:1.0:0.0	.	381;376	B7Z1H8;P47869	.;GBRA2_HUMAN	R	376;376;376;376;381;436	ENSP00000421828:P376R;ENSP00000421300:P376R;ENSP00000371033:P376R;ENSP00000348897:P376R;ENSP00000444409:P381R;ENSP00000427603:P436R	ENSP00000348897:P376R	P	-	2	0	GABRA2	45947311	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.869000	0.99810	2.827000	0.97445	0.655000	0.94253	CCG		0.418	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			60	35	0	0	0	0.00361006	0	60	35				
SLC36A4	120103	broad.mit.edu	37	11	92895879	92895879	+	Missense_Mutation	SNP	C	C	A	rs76610702	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:92895879C>A	ENST00000326402.4	-	9	1160	c.1030G>T	c.(1030-1032)Gat>Tat	p.D344Y	SLC36A4_ENST00000529184.1_Missense_Mutation_p.D209Y	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	344					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TACCATACATCTTGGGGAAGA	0.303													C|||	10	0.00199681	0.0076	0.0	5008	,	,		16161	0.0		0.0	False		,,,				2504	0.0					ENST00000326402.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1030-1032)Gat>Tat		solute carrier family 36 (proton/amino acid symporter), member 4		C	TYR/ASP	19,4383	25.3+/-52.1	0,19,2182	73.0	70.0	71.0		1030	5.7	0.9	11	dbSNP_131	71	0,8594		0,0,4297	yes	missense	SLC36A4	NM_152313.2	160	0,19,6479	AA,AC,CC		0.0,0.4316,0.1462	possibly-damaging	344/505	92895879	19,12977	2201	4297	6498	SO:0001583	missense	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92895879C>A	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.1030G>T	11.37:g.92895879C>A	ENSP00000317382:p.Asp344Tyr					SLC36A4_ENST00000529184.1_Missense_Mutation_p.D209Y	p.D344Y	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN			9	1160	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	344					Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	c.1030G>T	CCDS8291.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	21.5	4.154737	0.78114	0.004316	0.0	ENSG00000180773	ENST00000326402;ENST00000529184;ENST00000534116	T;T;T	0.02258	4.37;4.37;4.37	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.10165	0.0249	M	0.86343	2.81	0.58432	D	0.999998	D	0.58620	0.983	P	0.59171	0.853	T	0.00063	-1.2154	10	0.72032	D	0.01	-21.9413	19.47	0.94959	0.0:1.0:0.0:0.0	.	344	Q6YBV0	S36A4_HUMAN	Y	344;209;238	ENSP00000317382:D344Y;ENSP00000436570:D209Y;ENSP00000432061:D238Y	ENSP00000317382:D344Y	D	-	1	0	SLC36A4	92535527	1.000000	0.71417	0.930000	0.37139	0.978000	0.69477	3.856000	0.55964	2.706000	0.92434	0.650000	0.86243	GAT		0.303	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			21	23	1	0	2.4624e-09	0.00121646	7.46823e-09	21	23				
SNHG14	104472715	broad.mit.edu	37	15	25463671	25463671	+	RNA	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:25463671C>A	ENST00000424208.1	+	0	2954				SNHG14_ENST00000365067.1_RNA|SNORD115-27_ENST00000364430.1_RNA|SNHG14_ENST00000453082.2_RNA|SNORD115-25_ENST00000362619.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GAAGCTCCAGCCCTTCCTGGT	0.602																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25463671C>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25463671C>A						SNHG14_ENST00000453082.2_RNA		NR_003305.1						0	2954	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.602	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			29	59	1	0	2.48779e-11	0.000878237	7.78167e-11	29	59				
LRGUK	136332	broad.mit.edu	37	7	133884049	133884049	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:133884049G>C	ENST00000285928.2	+	14	1692	c.1623G>C	c.(1621-1623)gaG>gaC	p.E541D		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	541	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AAAAATATGAGGGATATTTGC	0.363																																						ENST00000285928.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(1621-1623)gaG>gaC		leucine-rich repeats and guanylate kinase domain containing							106.0	114.0	112.0					7																	133884049		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133884049G>C	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1623G>C	7.37:g.133884049G>C	ENSP00000285928:p.Glu541Asp						p.E541D	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			14	1692	+			541			Guanylate kinase-like.		Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.1623G>C	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541147	0.65085	.	.	ENSG00000155530	ENST00000285928	T	0.44482	0.92	6.11	1.21	0.21127	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.069446	0.64402	D	0.000011	T	0.57651	0.2068	M	0.85630	2.765	0.25085	N	0.99089	D	0.63046	0.992	P	0.60286	0.872	T	0.50972	-0.8764	10	0.72032	D	0.01	-29.3253	6.6102	0.22747	0.389:0.1124:0.4986:0.0	.	541	Q96M69	LRGUK_HUMAN	D	541	ENSP00000285928:E541D	ENSP00000285928:E541D	E	+	3	2	LRGUK	133534589	0.929000	0.31497	0.996000	0.52242	0.969000	0.65631	-0.044000	0.12023	0.160000	0.19432	-0.136000	0.14681	GAG		0.363	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		39	25	0	0	0	0.00148497	0	39	25				
MUC15	143662	broad.mit.edu	37	11	26587419	26587419	+	5'UTR	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:26587419G>C	ENST00000455601.2	-	0	105				MUC15_ENST00000436318.2_Missense_Mutation_p.P23R|MUC15_ENST00000281268.8_Missense_Mutation_p.P23R|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.P23R|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.P23R	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						AGGCTTCTTTGGTATTGGTTT	0.289																																						ENST00000436318.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(67-69)cCa>cGa		mucin 15, cell surface associated							35.0	36.0	36.0					11																	26587419		2192	4281	6473	SO:0001623	5_prime_UTR_variant	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26587419G>C	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.-14C>G	11.37:g.26587419G>C						ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.P23R|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.P23R|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000455601.2_5'UTR|MUC15_ENST00000281268.8_Missense_Mutation_p.P23R	p.P23R			Q8N387	MUC15_HUMAN			2	201	-			0					B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	c.68C>G	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	G	9.816	1.184430	0.21870	.	.	ENSG00000169550	ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T	0.26223	1.8;1.75;1.8;1.75	3.95	2.03	0.26663	.	.	.	.	.	T	0.13072	0.0317	N	0.14661	0.345	0.09310	N	1	P;B	0.36837	0.571;0.4	B;B	0.34452	0.183;0.082	T	0.16188	-1.0411	9	0.87932	D	0	.	4.7327	0.12974	0.1116:0.0:0.6744:0.2141	.	23;23	F8W945;E9PII6	.;.	R	23	ENSP00000416753:P23R;ENSP00000281268:P23R;ENSP00000431983:P23R;ENSP00000431945:P23R	ENSP00000281268:P23R	P	-	2	0	MUC15	26543995	0.000000	0.05858	0.002000	0.10522	0.099000	0.18886	-0.128000	0.10531	0.605000	0.29947	0.555000	0.69702	CCA		0.289	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		19	29	0	0	0	0.00152264	0	19	29				
RXFP3	51289	broad.mit.edu	37	5	33937868	33937868	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:33937868C>A	ENST00000330120.3	+	1	1378	c.1023C>A	c.(1021-1023)ccC>ccA	p.P341P		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	341					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GTTGGCTGCCCAACCAGGCGC	0.602																																						ENST00000330120.3																			0				endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						c.(1021-1023)ccC>ccA		relaxin/insulin-like family peptide receptor 3							68.0	65.0	66.0					5																	33937868		2203	4300	6503	SO:0001819	synonymous_variant	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937868C>A	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.1023C>A	5.37:g.33937868C>A							p.P341P	NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN			1	1378	+			341					Q14DA5	Silent	SNP	ENST00000330120.3	37	c.1023C>A	CCDS3900.1																																																																																				0.602	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		36	70	1	0	6.90743e-12	0.00375469	2.1834e-11	36	70				
AQP8	343	broad.mit.edu	37	16	25238439	25238439	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:25238439C>T	ENST00000219660.5	+	5	778	c.653C>T	c.(652-654)gCg>gTg	p.A218V	AQP8_ENST00000566125.1_Missense_Mutation_p.A212V	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN	aquaporin 8	218					canalicular bile acid transport (GO:0015722)|cellular response to cAMP (GO:0071320)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	apical part of cell (GO:0045177)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		TTTGGACCTGCGGTGGTGGCC	0.607																																						ENST00000219660.5																			0				NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(652-654)gCg>gTg		aquaporin 8							111.0	95.0	101.0					16																	25238439		2197	4300	6497	SO:0001583	missense	343				cellular response to cAMP	integral to plasma membrane	water channel activity	g.chr16:25238439C>T	BC040630	CCDS10626.1	16p12	2008-02-05			ENSG00000103375	ENSG00000103375		"""Ion channels / Aquaporins"""	642	protein-coding gene	gene with protein product		603750				9806845, 10393433	Standard	NM_001169		Approved		uc002doc.3	O94778	OTTHUMG00000097013	ENST00000219660.5:c.653C>T	16.37:g.25238439C>T	ENSP00000219660:p.Ala218Val					AQP8_ENST00000566125.1_Missense_Mutation_p.A212V	p.A218V	NM_001169.2	NP_001160.2	O94778	AQP8_HUMAN		GBM - Glioblastoma multiforme(48;0.044)	5	778	+			218					Q8IUU3|Q9UIA4	Missense_Mutation	SNP	ENST00000219660.5	37	c.653C>T	CCDS10626.1	.	.	.	.	.	.	.	.	.	.	C	33	5.210943	0.95069	.	.	ENSG00000103375	ENST00000219660	D	0.94232	-3.38	5.52	5.52	0.82312	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.97870	0.9300	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98994	1.0809	10	0.87932	D	0	-11.4688	16.9395	0.86213	0.0:1.0:0.0:0.0	.	218	O94778	AQP8_HUMAN	V	218	ENSP00000219660:A218V	ENSP00000219660:A218V	A	+	2	0	AQP8	25145940	1.000000	0.71417	0.997000	0.53966	0.867000	0.49689	7.170000	0.77587	2.600000	0.87896	0.561000	0.74099	GCG		0.607	AQP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214102.2	NM_001169		32	84	0	0	0	0.00178596	0	32	84				
SPEF2	79925	broad.mit.edu	37	5	35654677	35654677	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:35654677C>A	ENST00000356031.3	+	7	981	c.827C>A	c.(826-828)aCa>aAa	p.T276K	SPEF2_ENST00000440995.2_Missense_Mutation_p.T276K|SPEF2_ENST00000509059.1_Missense_Mutation_p.T276K|SPEF2_ENST00000282469.6_Missense_Mutation_p.T276K	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	276					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCAGGCCAGACAACCACCGAT	0.358																																						ENST00000440995.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(826-828)aCa>aAa		sperm flagellar 2							69.0	70.0	70.0					5																	35654677		2203	4300	6503	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35654677C>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.827C>A	5.37:g.35654677C>A	ENSP00000348314:p.Thr276Lys					SPEF2_ENST00000282469.6_Missense_Mutation_p.T276K|SPEF2_ENST00000356031.3_Missense_Mutation_p.T276K|SPEF2_ENST00000509059.1_Missense_Mutation_p.T276K	p.T276K			Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		7	827	+	all_lung(31;7.56e-05)		276					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.827C>A	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828545	0.32329	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.29655	2.35;2.35;2.35;1.56;2.35	5.72	0.392	0.16288	.	0.678698	0.15393	N	0.264736	T	0.24736	0.0600	L	0.44542	1.39	0.09310	N	0.999997	D;P;B	0.59767	0.986;0.561;0.016	P;B;B	0.50352	0.638;0.262;0.03	T	0.16689	-1.0394	10	0.06236	T	0.91	.	5.7993	0.18403	0.1227:0.4261:0.0:0.4512	.	276;276;276	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	K	276;276;276;219;276	ENSP00000282469:T276K;ENSP00000348314:T276K;ENSP00000421593:T276K;ENSP00000426259:T219K;ENSP00000412125:T276K	ENSP00000282469:T276K	T	+	2	0	SPEF2	35690434	0.035000	0.19736	0.040000	0.18447	0.843000	0.47879	0.270000	0.18607	-0.010000	0.14271	0.655000	0.94253	ACA		0.358	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		21	42	1	0	5.35356e-11	0.00278032	1.66586e-10	21	42				
KRTAP10-3	386682	broad.mit.edu	37	21	45978296	45978296	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr21:45978296C>T	ENST00000391620.1	-	1	347	c.303G>A	c.(301-303)gtG>gtA	p.V101V	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	101	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						agcagacaggcacgcagcagg	0.647																																						ENST00000391620.1																			0				kidney(1)|lung(4)|prostate(1)|skin(1)	7						c.(301-303)gtG>gtA		keratin associated protein 10-3							113.0	110.0	111.0					21																	45978296		2203	4299	6502	SO:0001819	synonymous_variant	386682					keratin filament		g.chr21:45978296C>T	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.303G>A	21.37:g.45978296C>T						TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	p.V101V	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN			1	347	-			101			18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Silent	SNP	ENST00000391620.1	37	c.303G>A	CCDS42956.1																																																																																				0.647	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			71	126	0	0	0	0.00361006	0	71	126				
SDHAP1	255812	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TTTGTCAACATTCGTGACAGA	0.413																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			255812							g.chr3:195698264T>C	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195698264T>C								NR_003264.2						0	1608	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.413	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	100	0	0	0	0.00198382	0	3	100				
LAMA2	3908	broad.mit.edu	37	6	129419489	129419489	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:129419489T>C	ENST00000421865.2	+	4	617	c.568T>C	c.(568-570)Tca>Cca	p.S190P		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	190	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGGCCACCGTCATATGCCAA	0.443																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(568-570)Tca>Cca		laminin, alpha 2							83.0	78.0	80.0					6																	129419489		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129419489T>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.568T>C	6.37:g.129419489T>C	ENSP00000400365:p.Ser190Pro						p.S190P	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	4	617	+			190			Laminin N-terminal.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.568T>C	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.110520	0.77210	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.75704	-0.96	5.34	5.34	0.76211	Laminin, N-terminal (3);	0.071678	0.64402	D	0.000020	T	0.67571	0.2907	L	0.31207	0.915	0.49798	D	0.999826	D;D	0.58620	0.963;0.983	P;P	0.57057	0.741;0.812	T	0.68025	-0.5518	10	0.32370	T	0.25	.	15.6136	0.76748	0.0:0.0:0.0:1.0	.	190;190	A6NF00;P24043	.;LAMA2_HUMAN	P	190	ENSP00000400365:S190P	ENSP00000346769:S190P	S	+	1	0	LAMA2	129461182	0.901000	0.30685	0.279000	0.24732	0.985000	0.73830	2.544000	0.45761	2.158000	0.67659	0.383000	0.25322	TCA		0.443	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			31	40	0	0	0	0.001512	0	31	40				
PFKL	5211	broad.mit.edu	37	21	45732884	45732884	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr21:45732884C>T	ENST00000349048.4	+	5	506	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	PFKL_ENST00000403390.1_Missense_Mutation_p.R198W|PFKL_ENST00000496824.1_3'UTR	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	151	N-terminal catalytic PFK domain 1.		R -> W. {ECO:0000269|PubMed:2533063}.		carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GACTACAGCCCGGACCTACTC	0.647																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(592-594)Cgg>Tgg		phosphofructokinase, liver							124.0	94.0	104.0					21																	45732884		2203	4300	6503	SO:0001583	missense	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45732884C>T		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.451C>T	21.37:g.45732884C>T	ENSP00000269848:p.Arg151Trp					PFKL_ENST00000349048.4_Missense_Mutation_p.R151W|PFKL_ENST00000496824.1_3'UTR	p.R198W			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	6	592	+			151					Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	c.592C>T	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.702295	0.30232	.	.	ENSG00000141959	ENST00000349048;ENST00000381188;ENST00000403390	T;T	0.81415	-1.49;-1.49	4.77	3.87	0.44632	Phosphofructokinase domain (2);	0.621254	0.16874	N	0.195974	D	0.82953	0.5149	L	0.52905	1.665	0.09310	N	0.999996	P;D	0.57571	0.6;0.98	B;P	0.54924	0.246;0.764	T	0.74281	-0.3716	10	0.72032	D	0.01	-30.7775	11.1443	0.48422	0.335:0.665:0.0:0.0	.	151;198	P17858;P17858-2	K6PL_HUMAN;.	W	151;201;198	ENSP00000269848:R151W;ENSP00000384038:R198W	ENSP00000269848:R151W	R	+	1	2	PFKL	44557312	0.007000	0.16637	0.240000	0.24138	0.012000	0.07955	0.227000	0.17795	0.966000	0.38159	0.491000	0.48974	CGG		0.647	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			18	37	0	0	0	0.000566183	0	18	37				
RLIM	51132	broad.mit.edu	37	X	73811508	73811508	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:73811508G>C	ENST00000332687.6	-	4	1860	c.1642C>G	c.(1642-1644)Ctc>Gtc	p.L548V	RLIM_ENST00000349225.2_Missense_Mutation_p.L548V	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	548					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTTTGGTGAGTCCTCTAGGT	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1642-1644)Ctc>Gtc		ring finger protein, LIM domain interacting							67.0	53.0	58.0					X																	73811508		2203	4300	6503	SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811508G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1642C>G	X.37:g.73811508G>C	ENSP00000328059:p.Leu548Val					RLIM_ENST00000349225.2_Missense_Mutation_p.L548V	p.L548V	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1860	-			548					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.1642C>G	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.288724	0.59976	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.12879	2.64;2.64	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.39517	0.1081	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.21042	-1.0257	10	0.66056	D	0.02	-9.9998	18.3592	0.90370	0.0:0.0:1.0:0.0	.	548	Q9NVW2	RNF12_HUMAN	V	548	ENSP00000328059:L548V;ENSP00000253571:L548V	ENSP00000328059:L548V	L	-	1	0	RLIM	73728233	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	2.275000	0.75901	0.600000	0.82982	CTC		0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		17	30	0	0	0	0.00074312	0	17	30				
SLC17A9	63910	broad.mit.edu	37	20	61594696	61594696	+	Missense_Mutation	SNP	C	C	T	rs201329081	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr20:61594696C>T	ENST00000370351.4	+	6	831	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Missense_Mutation_p.R228W	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	234					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCCCTGGAGACGGCTCTTCCG	0.647													C|||	3	0.000599042	0.0	0.0	5008	,	,		16993	0.0		0.0	False		,,,				2504	0.0031					ENST00000370349.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(682-684)Cgg>Tgg		solute carrier family 17 (vesicular nucleotide transporter), member 9		C	TRP/ARG	8,3944		0,8,1968	41.0	45.0	44.0		700	4.9	1.0	20		44	0,8300		0,0,4150	yes	missense	SLC17A9	NM_022082.3	101	0,8,6118	TT,TC,CC		0.0,0.2024,0.0653	possibly-damaging	234/437	61594696	8,12244	1976	4150	6126	SO:0001583	missense	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61594696C>T	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.700C>T	20.37:g.61594696C>T	ENSP00000359376:p.Arg234Trp					SLC17A9_ENST00000370351.4_Missense_Mutation_p.R234W|SLC17A9_ENST00000488738.1_3'UTR	p.R228W			Q9BYT1	S17A9_HUMAN			7	886	+			234		N -> S (in dbSNP:rs2427463).			B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	c.682C>T	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407153	0.62399	0.002024	0.0	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.60299	0.2;0.2	4.86	4.86	0.63082	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.180937	0.48286	D	0.000193	T	0.67924	0.2945	M	0.61703	1.905	0.44603	D	0.997578	D;D;D	0.67145	0.996;0.98;0.99	P;P;P	0.58970	0.849;0.773;0.663	T	0.71279	-0.4640	10	0.66056	D	0.02	.	12.1386	0.53984	0.1712:0.8288:0.0:0.0	.	254;234;228	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	W	234;228	ENSP00000359376:R234W;ENSP00000359374:R228W	ENSP00000359374:R228W	R	+	1	2	SLC17A9	61065141	1.000000	0.71417	1.000000	0.80357	0.459000	0.32528	1.999000	0.40806	2.243000	0.73865	0.313000	0.20887	CGG		0.647	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		16	19	0	0	0	0.000958276	0	16	19				
EPB41L3	23136	broad.mit.edu	37	18	5415942	5415942	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:5415942A>T	ENST00000341928.2	-	13	2282	c.1942T>A	c.(1942-1944)Ttc>Atc	p.F648I	EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.F648I|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000542652.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	648	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGCACTGAGAAGGAGGCAGAC	0.577																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1942-1944)Ttc>Atc		erythrocyte membrane protein band 4.1-like 3							187.0	130.0	149.0					18																	5415942		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5415942A>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1942T>A	18.37:g.5415942A>T	ENSP00000343158:p.Phe648Ile					EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.F648I|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000540638.2_Intron	p.F648I	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			13	2282	-			648			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.1942T>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	A	19.43	3.825348	0.71143	.	.	ENSG00000082397	ENST00000341928;ENST00000342933	T;T	0.81415	-1.49;-1.49	5.37	5.37	0.77165	.	0.129284	0.52532	D	0.000069	T	0.81173	0.4767	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.81890	-0.0725	10	0.39692	T	0.17	.	15.3796	0.74645	1.0:0.0:0.0:0.0	.	648	Q9Y2J2	E41L3_HUMAN	I	648	ENSP00000343158:F648I;ENSP00000341138:F648I	ENSP00000343158:F648I	F	-	1	0	EPB41L3	5405942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.576000	0.82467	2.031000	0.59945	0.460000	0.39030	TTC		0.577	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		29	45	0	0	0	0.000878237	0	29	45				
PCDHGB6	56100	broad.mit.edu	37	5	140788253	140788253	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:140788253A>T	ENST00000520790.1	+	1	484	c.484A>T	c.(484-486)Ata>Tta	p.I162L	PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	162	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCCTGATATAAACATAAA	0.363																																						ENST00000520790.1																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(484-486)Ata>Tta									36.0	37.0	37.0					5																	140788253		1824	4087	5911	SO:0001583	missense	56100							g.chr5:140788253A>T	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.484A>T	5.37:g.140788253A>T	ENSP00000428603:p.Ile162Leu					PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	p.I162L	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	484	+								Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.484A>T	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	a	15.32	2.798500	0.50208	.	.	ENSG00000253305	ENST00000520790	T	0.46451	0.87	5.34	4.21	0.49690	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.31544	0.0800	L	0.35249	1.045	0.20873	N	0.999836	B;P	0.35700	0.372;0.516	B;B	0.39152	0.292;0.281	T	0.23154	-1.0196	9	0.51188	T	0.08	.	3.7602	0.08601	0.5764:0.0:0.1154:0.3082	.	162;162	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	L	162	ENSP00000428603:I162L	ENSP00000428603:I162L	I	+	1	0	PCDHGB6	140768437	0.000000	0.05858	0.992000	0.48379	0.971000	0.66376	0.387000	0.20718	2.024000	0.59613	0.383000	0.25322	ATA		0.363	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		12	5	0	0	0	0.000978159	0	12	5				
COL11A1	1301	broad.mit.edu	37	1	103444277	103444277	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:103444277G>T	ENST00000370096.3	-	35	3053	c.2741C>A	c.(2740-2742)cCt>cAt	p.P914H	COL11A1_ENST00000353414.4_Missense_Mutation_p.P875H|COL11A1_ENST00000512756.1_Missense_Mutation_p.P798H|COL11A1_ENST00000358392.2_Missense_Mutation_p.P926H	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	914	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCACCTGGAGGGCCAGGAGG	0.378																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(2776-2778)cCt>cAt		collagen, type XI, alpha 1							98.0	115.0	109.0					1																	103444277		2200	4299	6499	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103444277G>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2741C>A	1.37:g.103444277G>T	ENSP00000359114:p.Pro914His					COL11A1_ENST00000512756.1_Missense_Mutation_p.P798H|COL11A1_ENST00000370096.3_Missense_Mutation_p.P914H|COL11A1_ENST00000353414.4_Missense_Mutation_p.P875H	p.P926H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	35	3094	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	914		Missing (in STL2; overlapping phenotype with Marshall syndrome).	Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2777C>A	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936485	0.52972	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.96774	-4.12;-4.12;-4.12;-4.12	5.35	5.35	0.76521	.	0.187472	0.46758	D	0.000268	D	0.98239	0.9417	M	0.88241	2.94	0.80722	D	1	D;D;D;D;D	0.76494	0.992;0.995;0.999;0.996;0.985	P;P;D;P;P	0.65874	0.751;0.874;0.939;0.819;0.824	D	0.98768	1.0727	10	0.66056	D	0.02	.	19.0619	0.93096	0.0:0.0:1.0:0.0	.	798;875;926;914;134	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	H	914;926;875;134;798	ENSP00000359114:P914H;ENSP00000351163:P926H;ENSP00000302551:P875H;ENSP00000426533:P798H	ENSP00000302551:P875H	P	-	2	0	COL11A1	103216865	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.407000	0.80029	2.506000	0.84524	0.655000	0.94253	CCT		0.378	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		55	99	1	0	8.4772e-36	0.00361006	3.25503e-35	55	99				
OR8K5	219453	broad.mit.edu	37	11	55927296	55927296	+	Missense_Mutation	SNP	C	C	A	rs199985785		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:55927296C>A	ENST00000313447.1	-	1	497	c.498G>T	c.(496-498)ttG>ttT	p.L166F		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CACAGAAGGTCAATGTAAAAA	0.383																																						ENST00000313447.1																			0				large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(496-498)ttG>ttT		olfactory receptor, family 8, subfamily K, member 5							84.0	85.0	85.0					11																	55927296		2201	4296	6497	SO:0001583	missense	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927296C>A	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.498G>T	11.37:g.55927296C>A	ENSP00000323853:p.Leu166Phe						p.L166F	NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN			1	497	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	166					Q6IFB5	Missense_Mutation	SNP	ENST00000313447.1	37	c.498G>T	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312347	0.40895	.	.	ENSG00000181752	ENST00000313447	T	0.00253	8.43	4.18	-0.374	0.12512	GPCR, rhodopsin-like superfamily (1);	0.476569	0.17759	N	0.162962	T	0.00328	0.0010	M	0.67700	2.07	0.09310	N	1	D	0.69078	0.997	D	0.67382	0.951	T	0.52480	-0.8570	10	0.62326	D	0.03	.	1.5036	0.02482	0.2606:0.4228:0.1361:0.1805	.	166	Q8NH50	OR8K5_HUMAN	F	166	ENSP00000323853:L166F	ENSP00000323853:L166F	L	-	3	2	OR8K5	55683872	0.000000	0.05858	0.002000	0.10522	0.944000	0.59088	-3.379000	0.00491	0.142000	0.18901	0.567000	0.79289	TTG		0.383	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		21	55	1	0	2.27731e-05	0.00188189	6.15849e-05	21	55				
KIAA2022	340533	broad.mit.edu	37	X	73963237	73963237	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:73963237G>T	ENST00000055682.6	-	3	1766	c.1155C>A	c.(1153-1155)ggC>ggA	p.G385G		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	385					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTTCCTCTTTGCCTTTCTTCT	0.458																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(1153-1155)ggC>ggA		KIAA2022							193.0	172.0	179.0					X																	73963237		2203	4300	6503	SO:0001819	synonymous_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963237G>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1155C>A	X.37:g.73963237G>T						KIAA2022_ENST00000055682.5_Silent_p.G385G	p.G385G			Q5QGS0	K2022_HUMAN			3	1806	-			385					A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	c.1155C>A	CCDS35337.1																																																																																				0.458	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		52	153	1	0	1.4374e-25	0.00361006	5.2182e-25	52	153				
ZSCAN21	7589	broad.mit.edu	37	7	99654694	99654694	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:99654694G>A	ENST00000292450.4	+	2	229	c.65G>A	c.(64-66)gGg>gAg	p.G22E	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.G22E|ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.G22E	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	22					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GAGCAGGTGGGGCCTCTGATG	0.537																																						ENST00000292450.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(64-66)gGg>gAg		zinc finger and SCAN domain containing 21							131.0	140.0	137.0					7																	99654694		2203	4300	6503	SO:0001583	missense	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99654694G>A	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.65G>A	7.37:g.99654694G>A	ENSP00000292450:p.Gly22Glu					ZSCAN21_ENST00000543588.1_Missense_Mutation_p.G22E|ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.G22E	p.G22E	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	229	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		22					A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.65G>A	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	G	9.588	1.125271	0.20959	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	T;T;T;T	0.06142	4.11;3.34;4.11;4.14	4.91	4.02	0.46733	.	0.000000	0.40469	N	0.001089	T	0.11324	0.0276	L	0.29908	0.895	0.34498	D	0.705744	B;D	0.71674	0.386;0.998	B;D	0.66351	0.101;0.943	T	0.29579	-1.0007	10	0.27785	T	0.31	.	9.1762	0.37114	0.0986:0.0:0.9014:0.0	.	22;22	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	E	22	ENSP00000441212:G22E;ENSP00000292450:G22E;ENSP00000390960:G22E;ENSP00000404207:G22E	ENSP00000292450:G22E	G	+	2	0	ZSCAN21	99492630	0.991000	0.36638	0.678000	0.29963	0.263000	0.26337	2.765000	0.47621	1.428000	0.47296	0.655000	0.94253	GGG		0.537	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		79	44	0	0	0	0.00361006	0	79	44				
C3orf67	200844	broad.mit.edu	37	3	58817503	58817503	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:58817503T>C	ENST00000482387.1	-	10	1805	c.1709A>G	c.(1708-1710)cAt>cGt	p.H570R	RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.H444R|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	570										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		ACTCAGGCCATGGGAGGTCCC	0.542																																						ENST00000295966.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19						c.(1330-1332)cAt>cGt		chromosome 3 open reading frame 67							203.0	154.0	171.0					3																	58817503		2203	4300	6503	SO:0001583	missense	200844							g.chr3:58817503T>C	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1709A>G	3.37:g.58817503T>C	ENSP00000417122:p.His570Arg					RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.H570R|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA	p.H444R	NM_198463.2	NP_940865.1	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	13	1834	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	452					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.1331A>G		.	.	.	.	.	.	.	.	.	.	T	17.98	3.520006	0.64634	.	.	ENSG00000163689	ENST00000295966;ENST00000482387	T;T	0.21191	2.06;2.02	5.92	3.52	0.40303	.	0.135491	0.51477	D	0.000091	T	0.34832	0.0911	M	0.65498	2.005	0.80722	D	1	D;D	0.61080	0.96;0.989	P;P	0.58873	0.626;0.847	T	0.03043	-1.1079	9	.	.	.	-4.1313	7.8403	0.29395	0.1238:0.0665:0.0:0.8098	.	444;570	Q6ZVT6-2;Q6ZVT6	.;CC067_HUMAN	R	444;570	ENSP00000295966:H444R;ENSP00000417122:H570R	.	H	-	2	0	C3orf67	58792543	1.000000	0.71417	0.882000	0.34594	0.917000	0.54804	3.212000	0.51145	0.487000	0.27698	0.383000	0.25322	CAT		0.542	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		27	13	0	0	0	0.000720815	0	27	13				
OSTN	344901	broad.mit.edu	37	3	190936696	190936696	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:190936696G>A	ENST00000339051.1	+	2	263	c.263G>A	c.(262-264)gGg>gAg	p.G88E	OSTN-AS1_ENST00000430375.1_RNA|OSTN_ENST00000445281.1_Missense_Mutation_p.G88E	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	88					cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|endochondral bone growth (GO:0003416)|negative regulation of glucose import (GO:0046325)|negative regulation of osteoblast differentiation (GO:0045668)|ossification (GO:0001503)|positive regulation of cGMP biosynthetic process (GO:0030828)	extracellular space (GO:0005615)				kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		TCTGGTTTTGGGTCTCCCCTT	0.398																																						ENST00000445281.1																			0				kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13						c.(262-264)gGg>gAg		osteocrin							106.0	106.0	106.0					3																	190936696		2203	4300	6503	SO:0001583	missense	344901				cell differentiation|multicellular organismal development|ossification		hormone activity	g.chr3:190936696G>A	AY398681	CCDS3299.1	3q29	2004-01-22			ENSG00000188729	ENSG00000188729			29961	protein-coding gene	gene with protein product		610280				14523025	Standard	NM_198184		Approved		uc011bsn.2	P61366	OTTHUMG00000156190	ENST00000339051.1:c.263G>A	3.37:g.190936696G>A	ENSP00000342356:p.Gly88Glu					OSTN_ENST00000339051.1_Missense_Mutation_p.G88E|OSTN-AS1_ENST00000430375.1_RNA	p.G88E			P61366	OSTN_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)	3	330	+	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		88					A1A4U3	Missense_Mutation	SNP	ENST00000339051.1	37	c.263G>A	CCDS3299.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080087	0.76528	.	.	ENSG00000188729	ENST00000445281;ENST00000339051	.	.	.	5.68	5.68	0.88126	.	0.116735	0.64402	D	0.000015	T	0.78298	0.4261	M	0.61703	1.905	0.43545	D	0.995844	D	0.89917	1.0	D	0.85130	0.997	T	0.79150	-0.1922	9	0.72032	D	0.01	0.4962	18.7642	0.91865	0.0:0.0:1.0:0.0	.	88	P61366	OSTN_HUMAN	E	88	.	ENSP00000342356:G88E	G	+	2	0	OSTN	192419390	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.605000	0.67634	2.687000	0.91594	0.561000	0.74099	GGG		0.398	OSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343350.1	NM_198184		23	26	0	0	0	0.001512	0	23	26				
ADAMTS19	171019	broad.mit.edu	37	5	129037215	129037215	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:129037215A>T	ENST00000274487.4	+	20	3216	c.3071A>T	c.(3070-3072)aAg>aTg	p.K1024M	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1024	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATTGGGCCCAAGCCCGCCTCT	0.577																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(3070-3072)aAg>aTg		ADAM metallopeptidase with thrombospondin type 1 motif, 19							74.0	66.0	69.0					5																	129037215		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129037215A>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3071A>T	5.37:g.129037215A>T	ENSP00000274487:p.Lys1024Met					ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	p.K1024M	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	20	3216	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	1024			TSP type-1 3.			Missense_Mutation	SNP	ENST00000274487.4	37	c.3071A>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	11.81	1.748544	0.30955	.	.	ENSG00000145808	ENST00000274487	T	0.55760	0.5	4.0	1.54	0.23209	.	0.077706	0.47852	D	0.000206	T	0.66386	0.2784	M	0.79258	2.445	0.44136	D	0.996929	D	0.89917	1.0	D	0.74348	0.983	T	0.63585	-0.6604	9	.	.	.	.	7.0679	0.25161	0.7708:0.149:0.0802:0.0	.	1024	Q8TE59	ATS19_HUMAN	M	1024	ENSP00000274487:K1024M	.	K	+	2	0	ADAMTS19	129065114	1.000000	0.71417	0.333000	0.25482	0.032000	0.12392	3.417000	0.52714	0.332000	0.23536	0.528000	0.53228	AAG		0.577	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		18	17	0	0	0	0.00152264	0	18	17				
ASB1	51665	broad.mit.edu	37	2	239344391	239344391	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:239344391C>T	ENST00000264607.4	+	3	478	c.231C>T	c.(229-231)ctC>ctT	p.L77L	ASB1_ENST00000469885.1_3'UTR|ASB1_ENST00000409297.1_Intron	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	77					intracellular signal transduction (GO:0035556)|male genitalia development (GO:0030539)|negative regulation of cytokine biosynthetic process (GO:0042036)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GTGGCTGGCTCCCCTGCACAC	0.632																																						ENST00000264607.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(229-231)ctC>ctT		ankyrin repeat and SOCS box containing 1							34.0	31.0	32.0					2																	239344391		2203	4300	6503	SO:0001819	synonymous_variant	51665				intracellular signal transduction|negative regulation of cytokine biosynthetic process			g.chr2:239344391C>T	AF156777	CCDS33416.1	2q37	2013-01-10	2011-01-25		ENSG00000065802	ENSG00000065802		"""Ankyrin repeat domain containing"""	16011	protein-coding gene	gene with protein product		605758	"""ankyrin repeat and SOCS box-containing 1"""				Standard	XR_241235		Approved	ASB-1	uc002vyg.3	Q9Y576	OTTHUMG00000152866	ENST00000264607.4:c.231C>T	2.37:g.239344391C>T						ASB1_ENST00000409297.1_Intron|ASB1_ENST00000469885.1_3'UTR	p.L77L	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)	3	478	+		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	77					A6NL50|Q4ZG29|Q9ULS4	Silent	SNP	ENST00000264607.4	37	c.231C>T	CCDS33416.1																																																																																				0.632	ASB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328294.1	NM_001040445		15	23	0	0	0	0.00316338	0	15	23				
PFAS	5198	broad.mit.edu	37	17	8168408	8168408	+	Missense_Mutation	SNP	A	A	T	rs146379979		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:8168408A>T	ENST00000314666.6	+	18	2378	c.2245A>T	c.(2245-2247)Acc>Tcc	p.T749S	PFAS_ENST00000545834.1_Missense_Mutation_p.T325S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	749					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CGAAGCCCTCACCAACCTGGT	0.622																																						ENST00000314666.6																			0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(2245-2247)Acc>Tcc		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						19.0	20.0	20.0					17																	8168408		2201	4299	6500	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8168408A>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2245A>T	17.37:g.8168408A>T	ENSP00000313490:p.Thr749Ser					PFAS_ENST00000545834.1_Missense_Mutation_p.T325S	p.T749S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN			18	2378	+			749					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.2245A>T	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.535190	0.45176	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.34275	1.37;2.06	5.8	5.8	0.92144	PurM, N-terminal-like (1);	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	L	0.53780	1.695	0.80722	D	1	P	0.35612	0.512	B	0.30316	0.114	T	0.24693	-1.0153	10	0.87932	D	0	-27.013	14.1127	0.65132	1.0:0.0:0.0:0.0	.	749	O15067	PUR4_HUMAN	S	325;749;158	ENSP00000441706:T325S;ENSP00000313490:T749S	ENSP00000313490:T749S	T	+	1	0	PFAS	8109133	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	6.579000	0.74036	2.227000	0.72691	0.460000	0.39030	ACC		0.622	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2			16	5	0	0	0	0.000566183	0	16	5				
TRIM68	55128	broad.mit.edu	37	11	4621792	4621792	+	Missense_Mutation	SNP	T	T	C	rs368773254		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:4621792T>C	ENST00000300747.5	-	7	1461	c.1172A>G	c.(1171-1173)tAt>tGt	p.Y391C		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	391	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCAGAATCCATAGTGGGGGGA	0.572																																						ENST00000300747.5																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(1171-1173)tAt>tGt		tripartite motif containing 68		T	CYS/TYR	1,4401	2.1+/-5.4	0,1,2200	72.0	66.0	68.0		1172	4.4	1.0	11		68	0,8596		0,0,4298	no	missense	TRIM68	NM_018073.5	194	0,1,6498	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	391/486	4621792	1,12997	2201	4298	6499	SO:0001583	missense	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4621792T>C	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.1172A>G	11.37:g.4621792T>C	ENSP00000300747:p.Tyr391Cys						p.Y391C	NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	7	1461	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	391			B30.2/SPRY.		A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	c.1172A>G	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.124089	0.37533	2.27E-4	0.0	ENSG00000167333	ENST00000300747;ENST00000544055	T	0.68903	-0.36	5.52	4.39	0.52855	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.143125	0.32836	N	0.005597	T	0.50086	0.1595	L	0.27053	0.805	0.37033	D	0.896791	B	0.21520	0.057	B	0.26094	0.066	T	0.51180	-0.8738	10	0.46703	T	0.11	.	5.1362	0.14935	0.1588:0.0851:0.0:0.7561	.	391	Q6AZZ1	TRI68_HUMAN	C	391;112	ENSP00000300747:Y391C	ENSP00000300747:Y391C	Y	-	2	0	TRIM68	4578368	0.001000	0.12720	0.998000	0.56505	0.837000	0.47467	0.971000	0.29396	1.048000	0.40298	0.459000	0.35465	TAT		0.572	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		18	35	0	0	0	0.00121646	0	18	35				
GPRASP1	9737	broad.mit.edu	37	X	101912157	101912157	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:101912157C>G	ENST00000361600.5	+	5	4117	c.3316C>G	c.(3316-3318)Cag>Gag	p.Q1106E	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.Q1106E|GPRASP1_ENST00000444152.1_Missense_Mutation_p.Q1106E|GPRASP1_ENST00000537097.1_Missense_Mutation_p.Q1106E	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1106	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCAGCCTGATCAGCCTAGTCC	0.488																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3316-3318)Cag>Gag		G protein-coupled receptor associated sorting protein 1							136.0	126.0	129.0					X																	101912157		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101912157C>G	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3316C>G	X.37:g.101912157C>G	ENSP00000355146:p.Gln1106Glu					RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.Q1106E|GPRASP1_ENST00000415986.1_Missense_Mutation_p.Q1106E|GPRASP1_ENST00000444152.1_Missense_Mutation_p.Q1106E	p.Q1106E	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	4129	+			1106			OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.3316C>G	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	C	3.637	-0.074379	0.07184	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	2.03	1.09	0.20402	.	.	.	.	.	T	0.05777	0.0151	N	0.14661	0.345	0.09310	N	1	D	0.54207	0.965	P	0.47044	0.535	T	0.38693	-0.9649	9	0.24483	T	0.36	.	5.8005	0.18412	0.0:0.6675:0.3325:0.0	.	1106	Q5JY77	GASP1_HUMAN	E	1106	ENSP00000393691:Q1106E;ENSP00000409420:Q1106E;ENSP00000355146:Q1106E;ENSP00000445683:Q1106E	ENSP00000355146:Q1106E	Q	+	1	0	GPRASP1	101798813	0.001000	0.12720	0.178000	0.23040	0.564000	0.35744	-0.245000	0.08890	0.289000	0.22422	0.284000	0.19432	CAG		0.488	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		62	120	0	0	0	0.00361006	0	62	120				
PRAMEF1	65121	broad.mit.edu	37	1	12853591	12853591	+	Missense_Mutation	SNP	C	C	A	rs149382773		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:12853591C>A	ENST00000332296.7	+	2	318	c.215C>A	c.(214-216)aCg>aAg	p.T72K	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	72					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGATGAAGACGCTTCATTTG	0.547																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(214-216)aCg>aAg		PRAME family member 1							73.0	79.0	77.0					1																	12853591		2203	4294	6497	SO:0001583	missense	65121							g.chr1:12853591C>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.215C>A	1.37:g.12853591C>A	ENSP00000332134:p.Thr72Lys						p.T72K	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	318	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	72					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.215C>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	1.098	-0.661979	0.03454	.	.	ENSG00000116721	ENST00000332296	T	0.11169	2.8	1.61	0.67	0.17923	.	4.036270	0.00582	N	0.000330	T	0.16769	0.0403	L	0.45137	1.4	0.09310	N	1	D	0.54207	0.965	P	0.57009	0.811	T	0.36648	-0.9739	10	0.09590	T	0.72	.	4.0246	0.09682	0.0:0.7734:0.0:0.2266	.	72	O95521	PRAM1_HUMAN	K	72	ENSP00000332134:T72K	ENSP00000332134:T72K	T	+	2	0	PRAMEF1	12776178	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-4.013000	0.00313	0.252000	0.21531	-0.336000	0.08194	ACG		0.547	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		59	97	1	0	1.88935e-48	0.00361006	7.42113e-48	59	97				
UNC45B	146862	broad.mit.edu	37	17	33486400	33486400	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:33486400A>G	ENST00000268876.5	+	8	912	c.815A>G	c.(814-816)aAg>aGg	p.K272R	UNC45B_ENST00000394570.2_Missense_Mutation_p.K272R|UNC45B_ENST00000433649.1_Missense_Mutation_p.K272R|UNC45B_ENST00000591048.1_Missense_Mutation_p.K272R|UNC45B_ENST00000378449.1_Missense_Mutation_p.K272R	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	272					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TCAGACACCAAGAAGGACCTG	0.507																																						ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(814-816)aAg>aGg		unc-45 homolog B (C. elegans)							210.0	227.0	221.0					17																	33486400		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33486400A>G	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.815A>G	17.37:g.33486400A>G	ENSP00000268876:p.Lys272Arg					UNC45B_ENST00000433649.1_Missense_Mutation_p.K272R|UNC45B_ENST00000394570.2_Missense_Mutation_p.K272R|UNC45B_ENST00000378449.1_Missense_Mutation_p.K272R|UNC45B_ENST00000591048.1_Missense_Mutation_p.K272R	p.K272R	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			8	912	+		Ovarian(249;0.17)	272					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.815A>G	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	A	18.35	3.605173	0.66445	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.49139	0.79;3.56;0.79;3.12	5.87	4.77	0.60923	Armadillo-like helical (1);Armadillo-type fold (1);	0.313004	0.37715	N	0.001966	T	0.45677	0.1354	L	0.36672	1.1	0.40328	D	0.97889	P;B;B	0.48694	0.914;0.351;0.27	P;B;B	0.49421	0.61;0.19;0.288	T	0.31586	-0.9938	10	0.27785	T	0.31	-36.1795	12.5801	0.56386	0.8612:0.1388:0.0:0.0	.	272;272;272	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	R	272	ENSP00000378071:K272R;ENSP00000268876:K272R;ENSP00000412840:K272R;ENSP00000367710:K272R	ENSP00000268876:K272R	K	+	2	0	UNC45B	30510513	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.828000	0.55753	1.104000	0.41587	0.533000	0.62120	AAG		0.507	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		130	233	0	0	0	0.00361006	0	130	233				
ZNF618	114991	broad.mit.edu	37	9	116764924	116764924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:116764924G>T	ENST00000374126.5	+	6	631	c.532G>T	c.(532-534)Gag>Tag	p.E178*	ZNF618_ENST00000288466.7_Nonsense_Mutation_p.E146*			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CACCTCAGGGGAGGGAGCCTC	0.612																																						ENST00000288466.7																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(436-438)Gag>Tag		zinc finger protein 618							74.0	82.0	79.0					9																	116764924		1952	4144	6096	SO:0001587	stop_gained	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116764924G>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.532G>T	9.37:g.116764924G>T	ENSP00000363241:p.Glu178*					ZNF618_ENST00000374126.5_Nonsense_Mutation_p.E178*	p.E146*	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN			5	535	+			218					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Nonsense_Mutation	SNP	ENST00000374126.5	37	c.436G>T		.	.	.	.	.	.	.	.	.	.	G	36	5.667963	0.96745	.	.	ENSG00000157657	ENST00000374126;ENST00000288466;ENST00000452710;ENST00000374124	.	.	.	5.56	5.56	0.83823	.	0.051572	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-33.9532	15.0344	0.71734	0.0:0.0:1.0:0.0	.	.	.	.	X	178;146;146;146	.	ENSP00000288466:E146X	E	+	1	0	ZNF618	115804745	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.572000	0.67411	2.601000	0.87937	0.655000	0.94253	GAG		0.612	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		27	81	1	0	0.000147802	0.00106085	0.00039174	27	81				
CDH9	1007	broad.mit.edu	37	5	26903843	26903843	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:26903843G>A	ENST00000231021.4	-	6	1074	c.902C>T	c.(901-903)gCa>gTa	p.A301V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	301	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTCCATTTCTGCATTTTCCCC	0.413																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(901-903)gCa>gTa		cadherin 9, type 2 (T1-cadherin)							266.0	231.0	243.0					5																	26903843		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26903843G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.902C>T	5.37:g.26903843G>A	ENSP00000231021:p.Ala301Val						p.A301V	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			6	1074	-			301			Cadherin 3.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.902C>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.300347	0.81136	.	.	ENSG00000113100	ENST00000231021	T	0.41065	1.01	5.74	5.74	0.90152	Cadherin (4);Cadherin-like (1);	0.099999	0.64402	D	0.000002	T	0.77955	0.4208	H	0.97415	4	0.58432	D	0.999995	P	0.48694	0.914	D	0.66196	0.942	D	0.84618	0.0682	9	.	.	.	.	18.906	0.92462	0.0:0.0:1.0:0.0	.	301	Q9ULB4	CADH9_HUMAN	V	301	ENSP00000231021:A301V	.	A	-	2	0	CDH9	26939600	1.000000	0.71417	0.993000	0.49108	0.225000	0.24961	9.720000	0.98763	2.881000	0.98747	0.650000	0.86243	GCA		0.413	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		84	176	0	0	0	0.00361006	0	84	176				
FNDC1	84624	broad.mit.edu	37	6	159677661	159677661	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:159677661G>T	ENST00000297267.9	+	18	5372	c.5172G>T	c.(5170-5172)acG>acT	p.T1724T	FNDC1_ENST00000340366.6_Silent_p.T1661T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1724	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCCCAACACGAGGTACGATG	0.423																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(5170-5172)acG>acT		fibronectin type III domain containing 1							185.0	168.0	173.0					6																	159677661		1941	4152	6093	SO:0001819	synonymous_variant	84624					extracellular region		g.chr6:159677661G>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.5172G>T	6.37:g.159677661G>T						FNDC1_ENST00000340366.6_Silent_p.T1661T	p.T1724T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	18	5372	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1724			Fibronectin type-III 5.		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	c.5172G>T	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	8.757	0.922747	0.18056	.	.	ENSG00000164694	ENST00000329629	.	.	.	5.59	-1.48	0.08745	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.1295	6.1521	0.20318	0.5732:0.1249:0.3018:0.0	.	.	.	.	X	1620	.	.	E	+	1	0	FNDC1	159597651	0.995000	0.38212	0.997000	0.53966	0.861000	0.49209	0.435000	0.21510	-0.516000	0.06470	-0.229000	0.12294	GAG		0.423	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		53	72	1	0	1.38658e-30	0.00361006	5.22364e-30	53	72				
FAM47C	442444	broad.mit.edu	37	X	37027150	37027150	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:37027150C>A	ENST00000358047.3	+	1	719	c.667C>A	c.(667-669)Cgc>Agc	p.R223S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	223										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCCATCTCCGCCCACAGCC	0.657																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(667-669)Cgc>Agc		family with sequence similarity 47, member C							40.0	40.0	40.0					X																	37027150		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027150C>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.667C>A	X.37:g.37027150C>A	ENSP00000367913:p.Arg223Ser						p.R223S	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	719	+			223					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.667C>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	C	7.957	0.746173	0.15710	.	.	ENSG00000198173	ENST00000358047	T	0.20598	2.06	0.96	-1.92	0.07618	.	.	.	.	.	T	0.10208	0.0250	L	0.39898	1.24	0.23720	N	0.997022	P	0.35780	0.52	B	0.25614	0.062	T	0.36383	-0.9750	9	0.07990	T	0.79	.	5.5458	0.17063	0.0:0.7514:0.0:0.2486	.	223	Q5HY64	FA47C_HUMAN	S	223	ENSP00000367913:R223S	ENSP00000367913:R223S	R	+	1	0	FAM47C	36937071	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	-0.568000	0.05909	-1.049000	0.03234	-1.043000	0.02367	CGC		0.657	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		35	23	1	0	1.36239e-07	0.00327116	3.90465e-07	35	23				
LCN1	3933	broad.mit.edu	37	9	138415086	138415086	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:138415086G>C	ENST00000263598.2	+	3	290	c.230G>C	c.(229-231)gGc>gCc	p.G77A	LCN1_ENST00000371781.3_Missense_Mutation_p.G77A	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	77					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		AGGATAAGTGGCCGGTGCCAG	0.637																																						ENST00000263598.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13						c.(229-231)gGc>gCc		lipocalin 1							23.0	29.0	27.0					9																	138415086		2203	4300	6503	SO:0001583	missense	3933				proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	g.chr9:138415086G>C		CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"""Lipocalins"""	6525	protein-coding gene	gene with protein product	"""Von Ebner gland protein"", ""tear lipocalin"", ""lipocalin 1-like 2"", ""tear prealbumin"""	151675	"""lipocalin 1 (protein migrating faster than albumin, tear prealbumin)"", ""lipocalin 1 (tear prealbumin)"""			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.230G>C	9.37:g.138415086G>C	ENSP00000263598:p.Gly77Ala					LCN1_ENST00000371781.3_Missense_Mutation_p.G77A	p.G77A	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)	3	290	+		Myeloproliferative disorder(178;0.0511)	77					Q5T8A1	Missense_Mutation	SNP	ENST00000263598.2	37	c.230G>C	CCDS6991.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413541	0.42817	.	.	ENSG00000160349	ENST00000263598;ENST00000371781	T;T	0.16597	2.33;2.33	3.02	2.08	0.27032	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.39759	N	0.001269	T	0.38214	0.1032	M	0.82517	2.595	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.06534	-1.0821	10	0.54805	T	0.06	.	6.5492	0.22423	0.1411:0.0:0.8589:0.0	.	77	P31025	LCN1_HUMAN	A	77	ENSP00000263598:G77A;ENSP00000360846:G77A	ENSP00000263598:G77A	G	+	2	0	LCN1	137554907	0.005000	0.15991	0.017000	0.16124	0.208000	0.24298	0.162000	0.16501	0.812000	0.34326	0.472000	0.43445	GGC		0.637	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297		11	33	0	0	0	0.000978159	0	11	33				
XIRP1	165904	broad.mit.edu	37	3	39229740	39229740	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:39229740C>A	ENST00000340369.3	-	2	1425	c.1197G>T	c.(1195-1197)gtG>gtT	p.V399V	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.V399V	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	399					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTAGGTGACCCACTTGGACCT	0.592																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(1195-1197)gtG>gtT		xin actin-binding repeat containing 1							146.0	147.0	147.0					3																	39229740		2203	4300	6503	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39229740C>A	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1197G>T	3.37:g.39229740C>A						XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.V399V	p.V399V	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	1425	-			399					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.1197G>T	CCDS2683.1																																																																																				0.592	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		60	53	1	0	1.27862e-28	0.00361006	4.74237e-28	60	53				
PKHD1L1	93035	broad.mit.edu	37	8	110489571	110489571	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:110489571C>T	ENST00000378402.5	+	53	9139	c.9035C>T	c.(9034-9036)cCt>cTt	p.P3012L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3012					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P3014H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GATTGCTTTCCTGTACATCCG	0.408										HNSCC(38;0.096)																												ENST00000378402.5																			1	Substitution - Missense(1)	p.P3014H(1)	lung(1)	NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(9034-9036)cCt>cTt		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							131.0	119.0	123.0					8																	110489571		1882	4107	5989	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110489571C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9035C>T	8.37:g.110489571C>T	ENSP00000367655:p.Pro3012Leu	HNSCC(38;0.096)					p.P3012L	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		53	9139	+			3012					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.9035C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789522	0.70337	.	.	ENSG00000205038	ENST00000378402	D	0.88664	-2.41	5.69	5.69	0.88448	.	0.139395	0.47455	D	0.000221	D	0.87378	0.6162	L	0.58101	1.795	0.45567	D	0.998516	P	0.38395	0.629	B	0.35550	0.205	D	0.88438	0.3040	10	0.72032	D	0.01	.	17.3086	0.87202	0.0:1.0:0.0:0.0	.	3012	Q86WI1	PKHL1_HUMAN	L	3012	ENSP00000367655:P3012L	ENSP00000367655:P3012L	P	+	2	0	PKHD1L1	110558747	0.996000	0.38824	1.000000	0.80357	0.677000	0.39632	4.193000	0.58385	2.685000	0.91497	0.585000	0.79938	CCT		0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		23	33	0	0	0	0.00332997	0	23	33				
HSP90AB1	3326	broad.mit.edu	37	6	44219990	44219990	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:44219990A>T	ENST00000371554.1	+	10	1931	c.1717A>T	c.(1717-1719)Aag>Tag	p.K573*	HSP90AB1_ENST00000371646.5_Nonsense_Mutation_p.K573*|MIR4647_ENST00000583964.1_RNA|HSP90AB1_ENST00000353801.3_Nonsense_Mutation_p.K573*|SLC35B2_ENST00000495706.1_5'Flank			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	573					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AATCTTAGATAAGAAGGTTGA	0.443																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(1717-1719)Aag>Tag		heat shock protein 90kDa alpha (cytosolic), class B member 1							46.0	45.0	46.0					6																	44219990		2203	4295	6498	SO:0001587	stop_gained	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44219990A>T	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.1717A>T	6.37:g.44219990A>T	ENSP00000360609:p.Lys573*					HSP90AB1_ENST00000371646.5_Nonsense_Mutation_p.K573*|HSP90AB1_ENST00000353801.3_Nonsense_Mutation_p.K573*	p.K573*			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		10	1931	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		573					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Nonsense_Mutation	SNP	ENST00000371554.1	37	c.1717A>T	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	A	40	8.105307	0.98657	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.4243	13.8284	0.63366	1.0:0.0:0.0:0.0	.	.	.	.	X	573	.	ENSP00000325875:K573X	K	+	1	0	HSP90AB1	44327968	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.255000	0.95524	1.770000	0.52166	0.455000	0.32223	AAG		0.443	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		19	31	0	0	0	0.000958276	0	19	31				
PCGF5	84333	broad.mit.edu	37	10	93011162	93011162	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:93011162C>G	ENST00000336126.5	+	6	671	c.439C>G	c.(439-441)Cga>Gga	p.R147G	PCGF5_ENST00000543648.1_Missense_Mutation_p.R147G	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	147					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						AGATTGTTTACGAAATAATGG	0.343																																					Colon(178;732 2696 46441 50370)	ENST00000336126.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						c.(439-441)Cga>Gga		polycomb group ring finger 5							130.0	122.0	125.0					10																	93011162		2203	4300	6503	SO:0001583	missense	84333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding	g.chr10:93011162C>G	AL832003	CCDS7413.1	10q23.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000180628	ENSG00000180628		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	28264	protein-coding gene	gene with protein product			"""ring finger protein (C3HC4 type) 159"""	RNF159		8076819	Standard	NM_001256549		Approved	MGC16202	uc001khh.4	Q86SE9	OTTHUMG00000018740	ENST00000336126.5:c.439C>G	10.37:g.93011162C>G	ENSP00000337500:p.Arg147Gly					PCGF5_ENST00000543648.1_Missense_Mutation_p.R147G	p.R147G	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN			6	671	+			147					B7Z892|D3DR33|Q6PK47|Q86TD0	Missense_Mutation	SNP	ENST00000336126.5	37	c.439C>G	CCDS7413.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526360	0.44969	.	.	ENSG00000180628	ENST00000543648;ENST00000336126	T;T	0.46063	0.88;0.88	6.06	5.17	0.71159	.	0.246039	0.42294	D	0.000730	T	0.35913	0.0948	L	0.43923	1.385	0.80722	D	1	B	0.19073	0.033	B	0.11329	0.006	T	0.11299	-1.0593	10	0.20519	T	0.43	-6.9883	15.128	0.72497	0.0:0.9328:0.0:0.0672	.	147	Q86SE9	PCGF5_HUMAN	G	147	ENSP00000445704:R147G;ENSP00000337500:R147G	ENSP00000337500:R147G	R	+	1	2	PCGF5	93001142	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.464000	0.66719	1.578000	0.49821	0.650000	0.86243	CGA		0.343	PCGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049363.1	NM_032373		16	30	0	0	0	0.00316338	0	16	30				
DBX1	120237	broad.mit.edu	37	11	20178181	20178181	+	Intron	SNP	G	G	A	rs570364224		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:20178181G>A	ENST00000524983.2	-	4	961				DBX1_ENST00000227256.3_Missense_Mutation_p.S243F			A6NMT0	DBX1_HUMAN	developing brain homeobox 1						regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GGCTCCGGGGGACGCACGGGG	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11117	0.0		0.0	False		,,,				2504	0.0					ENST00000227256.3																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						c.(727-729)tCc>tTc		developing brain homeobox 1							28.0	38.0	34.0					11																	20178181		2197	4292	6489	SO:0001627	intron_variant	120237				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:20178181G>A			11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.673-62C>T	11.37:g.20178181G>A						DBX1_ENST00000524983.2_Intron	p.S243F	NM_001029865.2	NP_001025036.2	A6NMT0	DBX1_HUMAN			4	727	-			223						Missense_Mutation	SNP	ENST00000524983.2	37	c.728C>T		.	.	.	.	.	.	.	.	.	.	G	8.126	0.782017	0.16189	.	.	ENSG00000109851	ENST00000227256	T	0.62639	0.01	3.46	-3.06	0.05379	.	.	.	.	.	T	0.43634	0.1256	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30966	-0.9960	8	0.62326	D	0.03	0.5195	3.6807	0.08309	0.4575:0.0:0.3702:0.1723	.	243	F8W811	.	F	243	ENSP00000227256:S243F	ENSP00000227256:S243F	S	-	2	0	DBX1	20134757	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.790000	0.04604	-0.768000	0.04626	0.650000	0.86243	TCC		0.627	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865		24	43	0	0	0	0.00395357	0	24	43				
SMR3A	26952	broad.mit.edu	37	4	71232484	71232484	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:71232484C>A	ENST00000226460.4	+	3	274	c.178C>A	c.(178-180)Cca>Aca	p.P60T		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	60	Pro-rich.					extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				ACCCTATGGTCCAGGGAGATT	0.557																																						ENST00000226460.4																			0				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15						c.(178-180)Cca>Aca		submaxillary gland androgen regulated protein 3A							140.0	132.0	135.0					4																	71232484		2203	4300	6503	SO:0001583	missense	26952					extracellular region		g.chr4:71232484C>A	D89501	CCDS34000.1	4q13.3	2009-04-17	2008-02-27	2005-02-07	ENSG00000109208	ENSG00000109208			19216	protein-coding gene	gene with protein product			"""proline rich 5 (salivary)"", ""submaxillary gland androgen regulated protein 3 homolog A (mouse)"""	PROL5		9354371, 17512016	Standard	NM_012390		Approved	PBI, PRL5	uc003hfg.1	Q99954	OTTHUMG00000160839	ENST00000226460.4:c.178C>A	4.37:g.71232484C>A	ENSP00000226460:p.Pro60Thr						p.P60T	NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN			3	274	+		all_hematologic(202;0.196)	60			Pro-rich.			Missense_Mutation	SNP	ENST00000226460.4	37	c.178C>A	CCDS34000.1	.	.	.	.	.	.	.	.	.	.	C	4.673	0.125090	0.08931	.	.	ENSG00000109208	ENST00000226460	T	0.33654	1.4	2.4	2.4	0.29515	.	.	.	.	.	T	0.42291	0.1196	L	0.29908	0.895	0.09310	N	1	D	0.71674	0.998	D	0.68943	0.961	T	0.12400	-1.0549	9	0.42905	T	0.14	.	8.402	0.32592	0.0:1.0:0.0:0.0	.	60	Q99954	SMR3A_HUMAN	T	60	ENSP00000226460:P60T	ENSP00000226460:P60T	P	+	1	0	SMR3A	71267073	0.004000	0.15560	0.046000	0.18839	0.070000	0.16714	0.015000	0.13355	1.664000	0.50801	0.491000	0.48974	CCA		0.557	SMR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362574.1	NM_012390		17	90	1	0	2.35188e-11	0.00074312	7.3758e-11	17	90				
FBXW7	55294	broad.mit.edu	37	4	153247288	153247288	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:153247288C>A	ENST00000281708.4	-	10	2743	c.1514G>T	c.(1513-1515)cGc>cTc	p.R505L	FBXW7_ENST00000603548.1_Missense_Mutation_p.R505L|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329L|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505L|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425L|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505L(7)|p.R505H(5)|p.R266L(1)|p.R266H(1)|p.?(1)|p.R505P(1)|p.R425H(1)|p.R425L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTGAACACAGCGGACTGCTGC	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		18	Substitution - Missense(17)|Unknown(1)	p.R505L(7)|p.R505H(5)|p.R266L(1)|p.R266H(1)|p.?(1)|p.R505P(1)|p.R425H(1)|p.R425L(1)	large_intestine(9)|upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(2)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1513-1515)cGc>cTc		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							169.0	159.0	163.0					4																	153247288		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247288C>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1514G>T	4.37:g.153247288C>A	ENSP00000281708:p.Arg505Leu					FBXW7_ENST00000603548.1_Missense_Mutation_p.R505L|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387L|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425L|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329L|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505L	p.R505L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2743	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	505		R -> L (in an ovarian cancer cell line).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1514G>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004722	0.74932	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	5.72	4.87	0.63330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.62332	0.2419	N	0.13299	0.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.70249	-0.4924	10	0.87932	D	0	-12.0024	16.4274	0.83818	0.1326:0.8674:0.0:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	L	505;387;425;329	ENSP00000281708:R505L;ENSP00000296555:R387L;ENSP00000263981:R425L;ENSP00000377528:R329L	ENSP00000263981:R425L	R	-	2	0	FBXW7	153466738	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	7.744000	0.85034	1.533000	0.49186	-0.188000	0.12872	CGC		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			37	26	1	0	4.11147e-13	0.00375469	1.32407e-12	37	26				
SLC4A5	57835	broad.mit.edu	37	2	74452068	74452068	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:74452068C>A	ENST00000377634.4	-	29	3592	c.3193G>T	c.(3193-3195)Gac>Tac	p.D1065Y	SLC4A5_ENST00000346834.4_Missense_Mutation_p.D968Y|SLC4A5_ENST00000357822.5_Missense_Mutation_p.D1065Y|SLC4A5_ENST00000359484.4_Missense_Mutation_p.D947Y|SLC4A5_ENST00000358683.4_Missense_Mutation_p.D947Y|SLC4A5_ENST00000394019.2_Missense_Mutation_p.D1049Y|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.D968Y|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R989L					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGGCCAGGTCGTGCTGGGAA	0.473																																						ENST00000394019.2																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(3145-3147)Gac>Tac		solute carrier family 4 (sodium bicarbonate cotransporter), member 5							108.0	108.0	108.0					2																	74452068		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74452068C>A	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.3193G>T	2.37:g.74452068C>A	ENSP00000366861:p.Asp1065Tyr					RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R989L|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.D968Y|SLC4A5_ENST00000377634.4_Missense_Mutation_p.D1065Y|SLC4A5_ENST00000359484.4_Missense_Mutation_p.D947Y|SLC4A5_ENST00000358683.4_Missense_Mutation_p.D947Y|SLC4A5_ENST00000357822.5_Missense_Mutation_p.D1065Y|SLC4A5_ENST00000346834.4_Missense_Mutation_p.D968Y	p.D1049Y	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN			28	3542	-			1065						Missense_Mutation	SNP	ENST00000377634.4	37	c.3145G>T	CCDS1936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.65|19.65	3.868162|3.868162	0.72065|0.72065	.|.	.|.	ENSG00000188687|ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634|ENST00000423644	T;T;T;T;T;T;T|T	0.73897|0.71579	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79|-0.58	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.095333|.	0.64402|.	D|.	0.000001|.	T|T	0.80854|0.80854	0.4703|0.4703	M|M	0.73962|0.73962	2.25|2.25	0.36303|0.36303	D|D	0.857146|0.857146	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.993|.	D;D;D;D|.	0.91635|.	0.999;0.997;0.995;0.978|.	D|D	0.85106|0.85106	0.0960|0.0960	10|7	0.87932|0.51188	D|T	0|0.08	.|.	15.7929|15.7929	0.78380|0.78380	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	968;947;1065;1049|.	Q9BY07-4;Q9BY07-7;Q9BY07;Q9BY07-3|.	.;.;S4A5_HUMAN;.|.	Y|L	1049;1070;968;947;947;1065;968;1065|989	ENSP00000377587:D1049Y;ENSP00000251768:D968Y;ENSP00000352461:D947Y;ENSP00000351513:D947Y;ENSP00000350475:D1065Y;ENSP00000366859:D968Y;ENSP00000366861:D1065Y|ENSP00000395804:R989L	ENSP00000251768:D968Y|ENSP00000395804:R989L	D|R	-|-	1|2	0|0	SLC4A5|SLC4A5	74305576|74305576	1.000000|1.000000	0.71417|0.71417	0.979000|0.979000	0.43373|0.43373	0.670000|0.670000	0.39368|0.39368	7.638000|7.638000	0.83328|0.83328	2.580000|2.580000	0.87095|0.87095	0.609000|0.609000	0.83330|0.83330	GAC|CGA		0.473	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			36	95	1	0	2.04263e-09	0.00428921	6.24254e-09	36	95				
PLXNA4	91584	broad.mit.edu	37	7	131831391	131831391	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:131831391G>C	ENST00000359827.3	-	28	5895	c.4933C>G	c.(4933-4935)Ctg>Gtg	p.L1645V	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1645V			Q9HCM2	PLXA4_HUMAN	plexin A4	1645					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCACTCTCCAGGTCAGGAGTG	0.577																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(4933-4935)Ctg>Gtg		plexin A4							175.0	189.0	184.0					7																	131831391		2179	4294	6473	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131831391G>C	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4933C>G	7.37:g.131831391G>C	ENSP00000352882:p.Leu1645Val					PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1645V	p.L1645V			Q9HCM2	PLXA4_HUMAN			28	5895	-			1645					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.4933C>G	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891909	0.72524	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.11712	2.75;2.75	5.8	5.8	0.92144	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.25531	0.0621	L	0.48642	1.525	0.58432	D	0.999999	D	0.55605	0.972	P	0.60609	0.877	T	0.00145	-1.1993	10	0.27785	T	0.31	.	20.0537	0.97638	0.0:0.0:1.0:0.0	.	1645	Q9HCM2	PLXA4_HUMAN	V	1645	ENSP00000323194:L1645V;ENSP00000352882:L1645V	ENSP00000323194:L1645V	L	-	1	2	PLXNA4	131481931	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.610000	0.74178	2.758000	0.94735	0.561000	0.74099	CTG		0.577	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		85	50	0	0	0	0.00361006	0	85	50				
SPAG9	9043	broad.mit.edu	37	17	49074019	49074019	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:49074019C>T	ENST00000262013.7	-	16	2083	c.1875G>A	c.(1873-1875)aaG>aaA	p.K625K	SPAG9_ENST00000505279.1_Silent_p.K615K|SPAG9_ENST00000357122.4_Silent_p.K611K|SPAG9_ENST00000510283.1_Silent_p.K468K	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	625					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			ACTGCTCTCTCTTTTGTTCTC	0.393																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(1873-1875)aaG>aaA		sperm associated antigen 9							166.0	143.0	151.0					17																	49074019		2203	4300	6503	SO:0001819	synonymous_variant	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49074019C>T	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.1875G>A	17.37:g.49074019C>T						SPAG9_ENST00000505279.1_Silent_p.K615K|SPAG9_ENST00000357122.4_Silent_p.K611K|SPAG9_ENST00000510283.1_Silent_p.K468K	p.K625K	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		16	2083	-			625					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Silent	SNP	ENST00000262013.7	37	c.1875G>A	CCDS45740.1																																																																																				0.393	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		12	32	0	0	0	0.00244969	0	12	32				
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I89V(4)	prostate(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)Att>Gtt																																						SO:0001583	missense	284802							g.chr20:29628263A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V	p.I89V							6	645	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.265A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	68	0	0	0	0.000602214	0	3	68				
GPHN	10243	broad.mit.edu	37	14	67389587	67389587	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:67389587G>C	ENST00000315266.5	+	7	1782	c.661G>C	c.(661-663)Gac>Cac	p.D221H	GPHN_ENST00000459628.1_Missense_Mutation_p.D203H|GPHN_ENST00000543237.1_Missense_Mutation_p.D234H|GPHN_ENST00000478722.1_Missense_Mutation_p.D221H|GPHN_ENST00000305960.9_Missense_Mutation_p.D190H|GPHN_ENST00000544752.2_3'UTR	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	221	Interaction with GABARAP. {ECO:0000250}.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AGAGAAGAAAGACAGTGGTGT	0.483			T	MLL	AL																																	ENST00000478722.1				Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		0				large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12						c.(661-663)Gac>Cac		gephyrin							118.0	113.0	115.0					14																	67389587		2203	4300	6503	SO:0001583	missense	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67389587G>C	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.661G>C	14.37:g.67389587G>C	ENSP00000312771:p.Asp221His					GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Missense_Mutation_p.D234H|GPHN_ENST00000459628.1_Missense_Mutation_p.D203H|GPHN_ENST00000315266.5_Missense_Mutation_p.D221H|GPHN_ENST00000305960.9_Missense_Mutation_p.D190H	p.D221H	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	7	1782	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	221			Interaction with GABARAP (By similarity).		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	c.661G>C	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563760	0.86335	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000459628;ENST00000543237;ENST00000305960;ENST00000555456	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	N	0.14661	0.345	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.999;0.99;0.998;0.999	T	0.69435	-0.5146	9	0.56958	D	0.05	-7.1318	17.9676	0.89103	0.0:0.0:1.0:0.0	.	190;234;221;221;203	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2;G3V582	.;.;GEPH_HUMAN;.;.	H	221;221;203;234;190;154	.	ENSP00000303019:D190H	D	+	1	0	GPHN	66459340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.550000	0.98110	2.241000	0.73720	0.650000	0.86243	GAC		0.483	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		38	28	0	0	0	0.00428921	0	38	28				
TCEB3B	51224	broad.mit.edu	37	18	44560256	44560256	+	Silent	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:44560256T>C	ENST00000332567.4	-	1	1732	c.1380A>G	c.(1378-1380)tcA>tcG	p.S460S	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	460					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCCAGAGCTCTGAGAAGACAT	0.592																																						ENST00000332567.4																			0				breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(1378-1380)tcA>tcG		transcription elongation factor B polypeptide 3B (elongin A2)							58.0	66.0	63.0					18																	44560256		2203	4300	6503	SO:0001819	synonymous_variant	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560256T>C	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1380A>G	18.37:g.44560256T>C						KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	p.S460S	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN			1	1732	-			460					Q9P2V9	Silent	SNP	ENST00000332567.4	37	c.1380A>G	CCDS11932.1																																																																																				0.592	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		103	72	0	0	0	0.00361006	0	103	72				
KIAA1024	23251	broad.mit.edu	37	15	79750339	79750339	+	Missense_Mutation	SNP	G	G	T	rs370740873		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:79750339G>T	ENST00000305428.3	+	2	1925	c.1850G>T	c.(1849-1851)cGt>cTt	p.R617L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	617						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TCGGGTGTCCGTGATGAAATC	0.488																																						ENST00000305428.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						c.(1849-1851)cGt>cTt		KIAA1024							76.0	71.0	73.0					15																	79750339		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79750339G>T	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1850G>T	15.37:g.79750339G>T	ENSP00000307461:p.Arg617Leu						p.R617L	NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN			2	1925	+			617					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.1850G>T	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897974	0.72639	.	.	ENSG00000169330	ENST00000305428	T	0.39056	1.1	5.6	5.6	0.85130	.	0.055952	0.64402	D	0.000001	T	0.64438	0.2598	M	0.67953	2.075	0.53688	D	0.999979	D	0.89917	1.0	D	0.73380	0.98	T	0.61816	-0.6985	9	.	.	.	.	19.5936	0.95526	0.0:0.0:1.0:0.0	.	617	Q9UPX6	K1024_HUMAN	L	617	ENSP00000307461:R617L	.	R	+	2	0	KIAA1024	77537394	1.000000	0.71417	0.876000	0.34364	0.985000	0.73830	5.212000	0.65225	2.627000	0.88993	0.591000	0.81541	CGT		0.488	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		32	54	1	0	8.88839e-20	0.00209593	3.05109e-19	32	54				
HCRTR2	3062	broad.mit.edu	37	6	55120039	55120039	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:55120039C>T	ENST00000370862.3	+	3	844	c.508C>T	c.(508-510)Cgt>Tgt	p.R170C		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	170					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAAGCGGGCCCGTAACAGCAT	0.502																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(508-510)Cgt>Tgt		hypocretin (orexin) receptor 2							178.0	148.0	158.0					6																	55120039		2203	4300	6503	SO:0001583	missense	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55120039C>T	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.508C>T	6.37:g.55120039C>T	ENSP00000359899:p.Arg170Cys						p.R170C	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		3	844	+	Lung NSC(77;0.107)|Renal(3;0.122)		170					Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	37	c.508C>T	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611991	0.66558	.	.	ENSG00000137252	ENST00000370862	T	0.38077	1.16	5.19	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.054132	0.64402	D	0.000001	T	0.37839	0.1018	L	0.53671	1.685	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.65140	0.901;0.932	T	0.13202	-1.0518	10	0.38643	T	0.18	.	12.5627	0.56291	0.5125:0.4875:0.0:0.0	.	170;170	Q548Y0;O43614	.;OX2R_HUMAN	C	170	ENSP00000359899:R170C	ENSP00000359899:R170C	R	+	1	0	HCRTR2	55227998	0.981000	0.34729	1.000000	0.80357	0.892000	0.51952	2.591000	0.46163	0.520000	0.28426	0.484000	0.47621	CGT		0.502	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			32	48	0	0	0	0.00283554	0	32	48				
SELE	6401	broad.mit.edu	37	1	169699747	169699747	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:169699747T>C	ENST00000333360.7	-	5	680	c.541A>G	c.(541-543)Aca>Gca	p.T181A	SELE_ENST00000367775.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.T181A|SELE_ENST00000367781.4_Missense_Mutation_p.T181A|SELE_ENST00000367780.4_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.T181A|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367782.4_Missense_Mutation_p.T181A|SELE_ENST00000367774.1_Missense_Mutation_p.T181A|SELE_ENST00000367779.4_Missense_Mutation_p.T181A	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	181	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	TCCAGGGCTGTACAGTTCACA	0.433																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(541-543)Aca>Gca		selectin E							61.0	59.0	59.0					1																	169699747		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169699747T>C	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.541A>G	1.37:g.169699747T>C	ENSP00000331736:p.Thr181Ala					SELE_ENST00000367776.1_Missense_Mutation_p.T181A|SELE_ENST00000367782.4_Missense_Mutation_p.T181A|SELE_ENST00000367775.1_Intron|SELE_ENST00000367774.1_Missense_Mutation_p.T181A|SELE_ENST00000367779.4_Missense_Mutation_p.T181A|SELE_ENST00000367777.1_Missense_Mutation_p.T181A|SELE_ENST00000367780.4_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.T181A|C1orf112_ENST00000498289.1_Intron	p.T181A	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			5	680	-	all_hematologic(923;0.208)		181			Sushi 1.		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.541A>G	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	T	6.965	0.547968	0.13312	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.72	-6.12	0.02124	Complement control module (2);Sushi/SCR/CCP (3);	1.669030	0.03423	N	0.206560	T	0.21962	0.0529	N	0.11064	0.09	0.09310	N	1	B	0.13594	0.008	B	0.18263	0.021	T	0.21280	-1.0250	10	0.44086	T	0.13	0.9017	13.5735	0.61860	0.0:0.3761:0.5249:0.099	.	181	P16581	LYAM2_HUMAN	A	181	ENSP00000356755:T181A;ENSP00000356756:T181A;ENSP00000356753:T181A;ENSP00000331736:T181A;ENSP00000356751:T181A;ENSP00000356750:T181A;ENSP00000356748:T181A	ENSP00000331736:T181A	T	-	1	0	SELE	167966371	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-0.367000	0.07553	-1.098000	0.03038	-1.091000	0.02175	ACA		0.433	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		22	29	0	0	0	0.00188189	0	22	29				
C6orf165	154313	broad.mit.edu	37	6	88127994	88127994	+	Silent	SNP	C	C	A	rs140079201		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:88127994C>A	ENST00000507897.1	+	7	783	c.700C>A	c.(700-702)Cgg>Agg	p.R234R	C6ORF165_ENST00000369562.4_Silent_p.R234R			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	234										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TGAGACTGCCCGGAGCCAGGT	0.488																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(700-702)Cgg>Agg		chromosome 6 open reading frame 165							84.0	75.0	78.0					6																	88127994		2203	4300	6503	SO:0001819	synonymous_variant	154313							g.chr6:88127994C>A	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.700C>A	6.37:g.88127994C>A						C6ORF165_ENST00000369562.4_Silent_p.R234R	p.R234R			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	7	783	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	234					A8K969|E1P507|Q8N9U4	Silent	SNP	ENST00000507897.1	37	c.700C>A	CCDS34498.1																																																																																				0.488	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		22	37	1	0	7.45023e-12	0.00152264	2.34878e-11	22	37				
SPTA1	6708	broad.mit.edu	37	1	158595968	158595968	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:158595968G>T	ENST00000368147.4	-	42	6058	c.5878C>A	c.(5878-5880)Ctt>Att	p.L1960I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1960					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AAGTCACCAAGGTCTGCACCA	0.418																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(5878-5880)Ctt>Att		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							130.0	128.0	129.0					1																	158595968		1910	4121	6031	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158595968G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5878C>A	1.37:g.158595968G>T	ENSP00000357129:p.Leu1960Ile					SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.L1957I	p.L1960I	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			42	6058	-	all_hematologic(112;0.0378)		1960					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5878C>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982192	0.74474	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.58210	0.35;0.35	4.93	4.93	0.64822	.	0.000000	0.29286	N	0.012582	T	0.69160	0.3080	M	0.82716	2.605	0.48696	D	0.999697	D	0.89917	1.0	D	0.97110	1.0	T	0.71167	-0.4672	10	0.48119	T	0.1	.	15.6796	0.77357	0.0:0.0:1.0:0.0	.	1960	P02549	SPTA1_HUMAN	I	1960;1957	ENSP00000357130:L1960I;ENSP00000357129:L1957I	ENSP00000357129:L1957I	L	-	1	0	SPTA1	156862592	1.000000	0.71417	0.982000	0.44146	0.569000	0.35902	7.089000	0.76909	2.557000	0.86248	0.563000	0.77884	CTT		0.418	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		16	29	1	0	3.57192e-18	0.00074312	1.21223e-17	16	29				
CTNNA2	1496	broad.mit.edu	37	2	80846291	80846291	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:80846291A>T	ENST00000402739.4	+	17	2517	c.2512A>T	c.(2512-2514)Acc>Tcc	p.T838S	AC008067.2_ENST00000609950.1_RNA|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000343114.3_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	838					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCAACTTTCTACCCACCTCCC	0.463																																						ENST00000402739.4																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2512-2514)Acc>Tcc		catenin (cadherin-associated protein), alpha 2							16.0	14.0	15.0					2																	80846291		875	1990	2865	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80846291A>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2512A>T	2.37:g.80846291A>T	ENSP00000384638:p.Thr838Ser					CTNNA2_ENST00000343114.3_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron	p.T838S			P26232	CTNA2_HUMAN			17	2517	+			838					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.2512A>T		.	.	.	.	.	.	.	.	.	.	A	7.953	0.745355	0.15710	.	.	ENSG00000066032	ENST00000402739	T	0.35973	1.28	5.87	5.87	0.94306	.	.	.	.	.	T	0.26991	0.0661	.	.	.	0.80722	D	1	B	0.25809	0.135	B	0.25987	0.065	T	0.08638	-1.0712	7	.	.	.	.	12.1547	0.54070	0.8574:0.1426:0.0:0.0	.	838	P26232	CTNA2_HUMAN	S	838	ENSP00000384638:T838S	.	T	+	1	0	CTNNA2	80699802	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.555000	0.60767	2.239000	0.73571	0.528000	0.53228	ACC		0.463	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		8	6	0	0	0	0.000442599	0	8	6				
OTUD7B	56957	broad.mit.edu	37	1	149916498	149916498	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:149916498C>T	ENST00000369135.4	-	12	2084	c.1790G>A	c.(1789-1791)aGc>aAc	p.S597N		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	597					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCTCAGAATGCTCAGGCTCTG	0.557																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1789-1791)aGc>aAc		OTU domain containing 7B							108.0	115.0	112.0					1																	149916498		2095	4225	6320	SO:0001583	missense	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149916498C>T	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1790G>A	1.37:g.149916498C>T	ENSP00000358131:p.Ser597Asn						p.S597N	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		12	2084	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		597					B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	ENST00000369135.4	37	c.1790G>A	CCDS41389.1	.	.	.	.	.	.	.	.	.	.	C	5.444	0.267115	0.10294	.	.	ENSG00000163113	ENST00000369135;ENST00000543330	T	0.29917	1.55	4.81	4.81	0.61882	.	0.082384	0.85682	D	0.000000	T	0.09113	0.0225	N	0.12887	0.27	0.58432	D	0.999992	B	0.06786	0.001	B	0.10450	0.005	T	0.10222	-1.0639	9	.	.	.	-31.5622	17.0493	0.86514	0.0:1.0:0.0:0.0	.	597	Q6GQQ9	OTU7B_HUMAN	N	597	ENSP00000358131:S597N	.	S	-	2	0	OTUD7B	148183122	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.047000	0.30367	2.498000	0.84270	0.557000	0.71058	AGC		0.557	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		21	131	0	0	0	0.00152264	0	21	131				
TUBB8	347688	broad.mit.edu	37	10	93792	93792	+	Silent	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:93792C>A	ENST00000309812.4	-	4	602	c.540G>T	c.(538-540)gtG>gtT	p.V180V	TUBB8_ENST00000447903.2_Silent_p.V108V|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	180					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TGTAGGGCTCCACCACGGTGT	0.517																																					Pancreas(192;2041 3010 9013 18103)	ENST00000447903.2																			0				NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(322-324)gtG>gtT		tubulin, beta 8 class VIII							107.0	96.0	100.0					10																	93792		2203	4295	6498	SO:0001819	synonymous_variant	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93792C>A	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.540G>T	10.37:g.93792C>A						TUBB8_ENST00000309812.4_Silent_p.V180V|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_3'UTR	p.V108V			Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	639	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	180					Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	c.324G>T	CCDS7051.1																																																																																				0.517	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		21	71	1	0	1.06801e-11	0.00178596	3.35821e-11	21	71				
FBXW2	26190	broad.mit.edu	37	9	123550177	123550177	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:123550177C>T	ENST00000608872.1	-	3	547	c.360G>A	c.(358-360)aaG>aaA	p.K120K	FBXW2_ENST00000340778.5_Silent_p.K120K	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	120					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						AATAAACCTTCTTCCAGTGCA	0.443																																						ENST00000373926.3																			0				ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						c.(358-360)aaG>aaA		F-box and WD repeat domain containing 2							113.0	106.0	108.0					9																	123550177		1909	4125	6034	SO:0001819	synonymous_variant	26190				proteolysis		protein binding|ubiquitin-protein ligase activity	g.chr9:123550177C>T	AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13608	protein-coding gene	gene with protein product		609071	"""F-box and WD-40 domain protein 2"""			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.360G>A	9.37:g.123550177C>T						FBXW2_ENST00000340778.5_Silent_p.K120K	p.K120K	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN			3	547	-			120					B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Silent	SNP	ENST00000608872.1	37	c.360G>A	CCDS43872.1																																																																																				0.443	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2			45	55	0	0	0	0.00361006	0	45	55				
LRRC4C	57689	broad.mit.edu	37	11	40137513	40137513	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:40137513G>T	ENST00000278198.2	-	2	2293	c.330C>A	c.(328-330)aaC>aaA	p.N110K	LRRC4C_ENST00000530763.1_Missense_Mutation_p.N110K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.N110K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.N110K			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	110					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TTCTGATATGGTTCCTACTCA	0.453																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(328-330)aaC>aaA		leucine rich repeat containing 4C							80.0	78.0	79.0					11																	40137513		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137513G>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.330C>A	11.37:g.40137513G>T	ENSP00000278198:p.Asn110Lys					LRRC4C_ENST00000530763.1_Missense_Mutation_p.N110K|LRRC4C_ENST00000527150.1_Missense_Mutation_p.N110K|LRRC4C_ENST00000528697.1_Missense_Mutation_p.N110K	p.N110K			Q9HCJ2	LRC4C_HUMAN			2	2293	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	110					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.330C>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.199071	0.38806	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.67	2.32	0.28847	.	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	H	0.98646	4.29	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.48670	-0.9015	10	0.87932	D	0	.	7.1449	0.25577	0.4997:0.0:0.5003:0.0	.	110	Q9HCJ2	LRC4C_HUMAN	K	110	ENSP00000278198:N110K;ENSP00000436976:N110K;ENSP00000437132:N110K;ENSP00000434761:N110K	ENSP00000278198:N110K	N	-	3	2	LRRC4C	40094089	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.453000	0.44970	0.439000	0.26476	0.585000	0.79938	AAC		0.453	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		24	27	1	0	1.9806e-07	0.00229938	5.64942e-07	24	27				
RBP3	5949	broad.mit.edu	37	10	48388466	48388466	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:48388466C>A	ENST00000224600.4	-	1	2525	c.2412G>T	c.(2410-2412)gaG>gaT	p.E804D	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	804	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCTGGCGGGGCTCTGCCTCAA	0.627																																						ENST00000224600.4																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2410-2412)gaG>gaT		retinol binding protein 3, interstitial	Vitamin A(DB00162)						17.0	17.0	17.0					10																	48388466		2197	4294	6491	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388466C>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2412G>T	10.37:g.48388466C>A	ENSP00000224600:p.Glu804Asp						p.E804D	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN			1	2525	-			804			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.2412G>T	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	6.005	0.369358	0.11352	.	.	ENSG00000107618	ENST00000224600	T	0.63417	-0.04	5.21	2.25	0.28309	Interphotoreceptor retinol-binding (2);	0.065278	0.56097	D	0.000021	T	0.56848	0.2013	L	0.43598	1.365	0.40346	D	0.979081	P	0.43938	0.822	P	0.45377	0.478	T	0.54536	-0.8279	10	0.52906	T	0.07	-22.1716	10.7913	0.46434	0.0:0.673:0.0:0.327	.	804	P10745	RET3_HUMAN	D	804	ENSP00000224600:E804D	ENSP00000224600:E804D	E	-	3	2	RBP3	48008472	1.000000	0.71417	0.981000	0.43875	0.246000	0.25737	0.796000	0.26986	-0.028000	0.13850	-1.134000	0.01955	GAG		0.627	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		8	8	1	0	0.00307968	0.00307968	0.00791729	8	8				
KAT7	11143	broad.mit.edu	37	17	47886541	47886541	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:47886541G>A	ENST00000259021.4	+	6	1004	c.724G>A	c.(724-726)Gac>Aac	p.D242N	KAT7_ENST00000509773.1_Intron|KAT7_ENST00000503935.2_Missense_Mutation_p.D86N|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000424009.2_Intron|KAT7_ENST00000454930.2_Missense_Mutation_p.D103N|KAT7_ENST00000435742.2_Intron	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	242					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CAGGCAAGATGACAACAACAG	0.473																																						ENST00000503935.2																			0											c.(256-258)Gac>Aac		K(lysine) acetyltransferase 7							148.0	120.0	129.0					17																	47886541		2203	4300	6503	SO:0001583	missense	11143				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:47886541G>A	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.724G>A	17.37:g.47886541G>A	ENSP00000259021:p.Asp242Asn					KAT7_ENST00000424009.2_Intron|KAT7_ENST00000435742.2_Intron|KAT7_ENST00000259021.4_Missense_Mutation_p.D242N|KAT7_ENST00000454930.2_Missense_Mutation_p.D103N|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000509773.1_Intron	p.D86N			O95251	MYST2_HUMAN			6	1292	+			242					B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	c.256G>A	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255211	0.80135	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000503935	.	.	.	5.8	5.8	0.92144	.	0.256482	0.45867	D	0.000340	T	0.39358	0.1075	N	0.08118	0	0.54753	D	0.999987	B;B	0.30482	0.0;0.281	B;B	0.24269	0.0;0.052	T	0.23762	-1.0179	9	0.27785	T	0.31	-23.0667	19.6588	0.95855	0.0:0.0:1.0:0.0	.	103;242	E7ER15;O95251	.;KAT7_HUMAN	N	242;103;86	.	ENSP00000259021:D242N	D	+	1	0	KAT7	45241540	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.568000	0.90741	2.751000	0.94390	0.650000	0.86243	GAC		0.473	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		15	41	0	0	0	0.00316338	0	15	41				
FN1	2335	broad.mit.edu	37	2	216248799	216248799	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:216248799G>T	ENST00000359671.1	-	29	4830	c.4565C>A	c.(4564-4566)aCt>aAt	p.T1522N	FN1_ENST00000490833.1_5'Flank|FN1_ENST00000443816.1_Missense_Mutation_p.T1522N|FN1_ENST00000432072.2_Missense_Mutation_p.T1613N|FN1_ENST00000356005.4_Missense_Mutation_p.T1522N|FN1_ENST00000357867.4_Missense_Mutation_p.T1522N|FN1_ENST00000336916.4_Missense_Mutation_p.T1522N|FN1_ENST00000323926.6_Missense_Mutation_p.T1613N|FN1_ENST00000354785.4_Missense_Mutation_p.T1613N|FN1_ENST00000446046.1_Missense_Mutation_p.T1522N|FN1_ENST00000345488.5_Missense_Mutation_p.T1522N|FN1_ENST00000357009.2_Missense_Mutation_p.T1522N|FN1_ENST00000421182.1_Missense_Mutation_p.T1522N|FN1_ENST00000346544.3_Missense_Mutation_p.T1522N			P02751	FINC_HUMAN	fibronectin 1	1522	Cell-attachment.|Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TCCACGGCCAGTGACAGCATA	0.498																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(4837-4839)aCt>aAt		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						127.0	117.0	121.0					2																	216248799		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216248799G>T		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.4565C>A	2.37:g.216248799G>T	ENSP00000352696:p.Thr1522Asn					FN1_ENST00000446046.1_Missense_Mutation_p.T1522N|FN1_ENST00000345488.5_Missense_Mutation_p.T1522N|FN1_ENST00000443816.1_Missense_Mutation_p.T1522N|FN1_ENST00000432072.2_Missense_Mutation_p.T1613N|FN1_ENST00000357867.4_Missense_Mutation_p.T1522N|FN1_ENST00000346544.3_Missense_Mutation_p.T1522N|FN1_ENST00000323926.6_Missense_Mutation_p.T1613N|FN1_ENST00000421182.1_Missense_Mutation_p.T1522N|FN1_ENST00000336916.4_Missense_Mutation_p.T1522N|FN1_ENST00000359671.1_Missense_Mutation_p.T1522N|FN1_ENST00000356005.4_Missense_Mutation_p.T1522N|FN1_ENST00000357009.2_Missense_Mutation_p.T1522N	p.T1613N			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	30	5207	-		Renal(323;0.127)	1616			Fibronectin type-III 11.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.4838C>A		.	.	.	.	.	.	.	.	.	.	G	13.94	2.386679	0.42308	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47869	0.83;0.83;1.04;0.83;0.83;1.04;0.83;1.04;1.04;1.04;0.83;0.83;0.83;0.83	5.83	4.04	0.47022	.	0.078270	0.53938	D	0.000058	T	0.52041	0.1710	L	0.33137	0.985	0.22435	N	0.999104	D;D;D;D;D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;0.999;1.0;0.997;0.997;0.999	D;D;D;D;D;D;D;D;D;D	0.91635	0.997;0.995;0.999;0.999;0.999;0.988;0.999;0.997;0.997;0.999	T	0.44967	-0.9293	10	0.08837	T	0.75	.	12.484	0.55861	0.1351:0.0:0.8649:0.0	.	1613;1613;1522;1522;1522;1522;1523;1522;1522;1613	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	N	1522;1613;1522;1522;1613;1523;1522;1522;1522;1522;1522;1522;1613;1522;329	ENSP00000394423:T1522N;ENSP00000323534:T1613N;ENSP00000338200:T1522N;ENSP00000350534:T1522N;ENSP00000346839:T1613N;ENSP00000352696:T1522N;ENSP00000265312:T1522N;ENSP00000273049:T1522N;ENSP00000349509:T1522N;ENSP00000410422:T1522N;ENSP00000415018:T1522N;ENSP00000399538:T1613N;ENSP00000348285:T1522N;ENSP00000416139:T329N	ENSP00000265313:T1523N	T	-	2	0	FN1	215957044	1.000000	0.71417	0.987000	0.45799	0.864000	0.49448	5.303000	0.65738	0.814000	0.34374	0.655000	0.94253	ACT		0.498	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		37	57	1	0	4.46736e-08	0.00111076	1.29586e-07	37	57				
ATMIN	23300	broad.mit.edu	37	16	81069786	81069786	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:81069786A>T	ENST00000299575.4	+	1	335	c.311A>T	c.(310-312)cAc>cTc	p.H104L	RP11-303E16.3_ENST00000566390.1_RNA|ATMIN_ENST00000564241.1_5'Flank|RP11-303E16.3_ENST00000561808.1_RNA	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	104					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CTCAACATGCACCTAGTCAAG	0.741																																						ENST00000299575.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(310-312)cAc>cTc		ATM interactor							10.0	10.0	10.0					16																	81069786		2050	4073	6123	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81069786A>T	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.311A>T	16.37:g.81069786A>T	ENSP00000299575:p.His104Leu						p.H104L	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN			1	335	+			104					A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.311A>T	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	a	28.1	4.890765	0.91889	.	.	ENSG00000166454	ENST00000299575	T	0.65732	-0.17	4.17	2.97	0.34412	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	U	0.000000	T	0.48714	0.1515	L	0.46157	1.445	0.80722	D	1	P	0.39809	0.689	B	0.32393	0.145	T	0.57154	-0.7860	10	0.87932	D	0	0.4327	9.6593	0.39945	0.8441:0.0:0.0:0.1559	.	104	O43313	ATMIN_HUMAN	L	104	ENSP00000299575:H104L	ENSP00000299575:H104L	H	+	2	0	ATMIN	79627287	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.387000	0.79785	1.645000	0.50612	0.358000	0.22013	CAC		0.741	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		12	4	0	0	0	0.00244969	0	12	4				
ZBTB33	10009	broad.mit.edu	37	X	119388366	119388366	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:119388366A>T	ENST00000326624.2	+	2	1324	c.1096A>T	c.(1096-1098)Agt>Tgt	p.S366C	ZBTB33_ENST00000557385.1_Missense_Mutation_p.S366C	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	366					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCAAAATACCAGTTTTGATGG	0.373																																						ENST00000326624.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1096-1098)Agt>Tgt		zinc finger and BTB domain containing 33							137.0	129.0	132.0					X																	119388366		2202	4300	6502	SO:0001583	missense	10009				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	g.chrX:119388366A>T	BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1096A>T	X.37:g.119388366A>T	ENSP00000314153:p.Ser366Cys					ZBTB33_ENST00000557385.1_Missense_Mutation_p.S366C	p.S366C	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN			2	1324	+			366					B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	ENST00000326624.2	37	c.1096A>T	CCDS14596.1	.	.	.	.	.	.	.	.	.	.	A	7.746	0.702411	0.15172	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.10860	2.83;2.83	5.55	0.14	0.14804	.	0.602886	0.18483	N	0.139880	T	0.04272	0.0118	N	0.14661	0.345	0.09310	N	1	B	0.32918	0.39	B	0.28385	0.089	T	0.33777	-0.9855	10	0.72032	D	0.01	-5.5335	0.5256	0.00620	0.3953:0.2332:0.1587:0.2128	.	366	Q86T24	KAISO_HUMAN	C	366	ENSP00000314153:S366C;ENSP00000450969:S366C	ENSP00000314153:S366C	S	+	1	0	ZBTB33;AC002086.1	119272394	0.000000	0.05858	0.228000	0.23943	0.982000	0.71751	0.134000	0.15932	0.280000	0.22209	0.417000	0.27973	AGT		0.373	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		51	96	0	0	0	0.00361006	0	51	96				
ARHGAP36	158763	broad.mit.edu	37	X	130215646	130215646	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:130215646G>T	ENST00000276211.5	+	2	352	c.7G>T	c.(7-9)Ggc>Tgc	p.G3C	ARHGAP36_ENST00000370922.1_Intron|ARHGAP36_ENST00000370921.1_5'Flank	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	3					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CAGAATGGGTGGCTGCATTCC	0.517																																						ENST00000276211.5																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(7-9)Ggc>Tgc		Rho GTPase activating protein 36							114.0	79.0	91.0					X																	130215646		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130215646G>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.7G>T	X.37:g.130215646G>T	ENSP00000276211:p.Gly3Cys					ARHGAP36_ENST00000370922.1_Intron	p.G3C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			2	352	+			3					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.7G>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331748	0.60853	.	.	ENSG00000147256	ENST00000276211	T	0.13307	2.6	4.16	4.16	0.48862	.	0.671538	0.13109	N	0.413137	T	0.14614	0.0353	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	P	0.57283	0.817	T	0.12066	-1.0562	10	0.87932	D	0	.	10.8111	0.46547	0.0:0.0:1.0:0.0	.	3	Q6ZRI8	RHG36_HUMAN	C	3	ENSP00000276211:G3C	ENSP00000276211:G3C	G	+	1	0	ARHGAP36	130043327	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.934000	0.40163	2.315000	0.78130	0.544000	0.68410	GGC		0.517	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		51	74	1	0	4.01344e-20	0.00361006	1.38562e-19	51	74				
SPATA31D5P	347127	broad.mit.edu	37	9	84532119	84532119	+	RNA	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:84532119T>A	ENST00000527857.1	+	0	2141					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		CCAGCGCAGATGGGGCCTGCC	0.488																																						ENST00000527857.1																			0																																																			347127							g.chr9:84532119T>A			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84532119T>A								NR_026851.1						0	2141	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.488	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		16	34	0	0	0	0.00400662	0	16	34				
KNG1	3827	broad.mit.edu	37	3	186450367	186450367	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:186450367G>T	ENST00000265023.4	+	7	1046	c.834G>T	c.(832-834)ctG>ctT	p.L278L	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Silent_p.L278L|KNG1_ENST00000447445.1_Silent_p.L242L|RP11-573D15.8_ENST00000354642.2_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	278	Cystatin kininogen-type 3. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		GCCCAGAGCTGGAGGAGACAC	0.443																																						ENST00000265023.4																			0				endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21						c.(832-834)ctG>ctT		kininogen 1	Ouabain(DB01092)						120.0	118.0	119.0					3																	186450367		2203	4300	6503	SO:0001819	synonymous_variant	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186450367G>T		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.834G>T	3.37:g.186450367G>T						RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Silent_p.L278L|KNG1_ENST00000447445.1_Silent_p.L242L	p.L278L	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	7	1046	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		278			Cystatin 3.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Silent	SNP	ENST00000265023.4	37	c.834G>T	CCDS43183.1																																																																																				0.443	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		10	110	1	0	4.68919e-08	0.000673444	1.35692e-07	10	110				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	94	0	0	0	0.00024832	0	4	94				
OR10C1	442194	broad.mit.edu	37	6	29408338	29408338	+	Silent	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:29408338T>A	ENST00000444197.2	+	1	1256	c.546T>A	c.(544-546)ccT>ccA	p.P182P	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGATCCAGCCTGTCCTGCAGC	0.582																																						ENST00000444197.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(544-546)ccT>ccA		olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)							151.0	161.0	157.0					6																	29408338		1508	2708	4216	SO:0001819	synonymous_variant	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408338T>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.546T>A	6.37:g.29408338T>A						OR11A1_ENST00000377149.1_Intron	p.P182P	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN			1	1256	+			182					Q5SUN7|Q96R18	Silent	SNP	ENST00000444197.2	37	c.546T>A	CCDS34364.1																																																																																				0.582	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			62	168	0	0	0	0.00361006	0	62	168				
IGSF6	10261	broad.mit.edu	37	16	21654459	21654459	+	Missense_Mutation	SNP	C	C	A	rs146422757	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:21654459C>A	ENST00000268389.4	-	5	663	c.602G>T	c.(601-603)cGt>cTt	p.R201L	RNU6-1005P_ENST00000384519.1_RNA|METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron|RNU6-196P_ENST00000384315.1_RNA	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	201					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		CTGAAAAATACGCCGAGCACT	0.328																																						ENST00000268389.4																			0				endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(601-603)cGt>cTt		immunoglobulin superfamily, member 6							84.0	85.0	85.0					16																	21654459		2198	4300	6498	SO:0001583	missense	10261				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr16:21654459C>A	AJ223183	CCDS10599.1	16p12.2	2013-01-11			ENSG00000140749	ENSG00000140749		"""Immunoglobulin superfamily / V-set domain containing"""	5953	protein-coding gene	gene with protein product		606222				9809579	Standard	NM_005849		Approved	DORA	uc002djg.2	O95976	OTTHUMG00000090709	ENST00000268389.4:c.602G>T	16.37:g.21654459C>A	ENSP00000268389:p.Arg201Leu					METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	p.R201L	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN		GBM - Glioblastoma multiforme(48;0.066)	5	663	-			201					Q8WWD8	Missense_Mutation	SNP	ENST00000268389.4	37	c.602G>T	CCDS10599.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299472	0.81136	.	.	ENSG00000140749	ENST00000268389	T	0.26373	1.74	6.06	5.11	0.69529	.	0.238619	0.29956	N	0.010775	T	0.43122	0.1233	L	0.55481	1.735	0.33590	D	0.601007	D	0.89917	1.0	D	0.70227	0.968	T	0.52011	-0.8632	10	0.51188	T	0.08	-3.352	11.6615	0.51349	0.0:0.9171:0.0:0.0829	.	201	O95976	IGSF6_HUMAN	L	201	ENSP00000268389:R201L	ENSP00000268389:R201L	R	-	2	0	IGSF6	21561960	0.982000	0.34865	1.000000	0.80357	0.997000	0.91878	0.777000	0.26718	2.880000	0.98712	0.650000	0.86243	CGT		0.328	IGSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207400.1			64	55	1	0	2.37532e-16	0.00361006	7.99335e-16	64	55				
CRHR2	1395	broad.mit.edu	37	7	30701809	30701809	+	Missense_Mutation	SNP	C	C	A	rs201210851		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr7:30701809C>A	ENST00000471646.1	-	7	1138	c.721G>T	c.(721-723)Gcc>Tcc	p.A241S	CRHR2_ENST00000506074.2_Missense_Mutation_p.A241S|CRHR2_ENST00000348438.4_Missense_Mutation_p.A268S|CRHR2_ENST00000341843.4_Missense_Mutation_p.A227S	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	241					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATGGCCCAGGCGACGATGATG	0.562																																						ENST00000471646.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(721-723)Gcc>Tcc		corticotropin releasing hormone receptor 2							125.0	117.0	119.0					7																	30701809		2203	4300	6503	SO:0001583	missense	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30701809C>A		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.721G>T	7.37:g.30701809C>A	ENSP00000418722:p.Ala241Ser					CRHR2_ENST00000506074.2_Missense_Mutation_p.A241S|CRHR2_ENST00000348438.4_Missense_Mutation_p.A268S|CRHR2_ENST00000341843.4_Missense_Mutation_p.A227S	p.A241S	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN			7	1138	-			241					B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.721G>T	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764443	0.31228	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.05	4.18	0.49190	GPCR, family 2-like (1);	0.270973	0.41712	D	0.000823	T	0.31136	0.0787	L	0.35288	1.05	0.48632	D	0.999683	B;B;P;B;B	0.36315	0.176;0.414;0.547;0.393;0.308	B;B;B;B;B	0.42555	0.303;0.391;0.271;0.201;0.303	T	0.11817	-1.0572	10	0.54805	T	0.06	.	8.0736	0.30704	0.0:0.8221:0.0:0.1779	.	240;241;268;227;241	B3SXT0;B3SXS6;Q13324-2;Q13324-3;Q13324	.;.;.;.;CRFR2_HUMAN	S	241;268;227;241	ENSP00000418722:A241S;ENSP00000340943:A268S;ENSP00000344304:A227S;ENSP00000426498:A241S	ENSP00000344304:A227S	A	-	1	0	CRHR2	30668334	0.984000	0.35163	0.945000	0.38365	0.064000	0.16182	2.601000	0.46249	1.513000	0.48852	-0.126000	0.14955	GCC		0.562	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			35	52	1	0	5.71845e-15	0.00111076	1.88725e-14	35	52				
TUBGCP2	10844	broad.mit.edu	37	10	135106020	135106020	+	Silent	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:135106020G>A	ENST00000252936.3	-	7	1236	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	TUBGCP2_ENST00000368563.2_Silent_p.I399I|TUBGCP2_ENST00000543663.1_Silent_p.I427I|RP11-122K13.12_ENST00000424450.1_RNA|TUBGCP2_ENST00000417178.2_Silent_p.I269I|TUBGCP2_ENST00000368562.1_5'Flank			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	399					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GGTCGTGGATGATGCCCCTGT	0.632																																						ENST00000368563.2																			0				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1195-1197)atC>atT		tubulin, gamma complex associated protein 2							111.0	88.0	96.0					10																	135106020		2203	4300	6503	SO:0001819	synonymous_variant	10844				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	g.chr10:135106020G>A	AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.1197C>T	10.37:g.135106020G>A						TUBGCP2_ENST00000543663.1_Silent_p.I427I|TUBGCP2_ENST00000252936.3_Silent_p.I399I|TUBGCP2_ENST00000417178.2_Silent_p.I269I	p.I399I	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)	8	1553	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	399					B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Silent	SNP	ENST00000252936.3	37	c.1197C>T	CCDS7676.1																																																																																				0.632	TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1			8	19	0	0	0	0.000274275	0	8	19				
AOX1	316	broad.mit.edu	37	2	201476122	201476122	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:201476122T>C	ENST00000374700.2	+	13	1410	c.1169T>C	c.(1168-1170)aTt>aCt	p.I390T	AOX1_ENST00000485106.1_Intron	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	390	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AAACGACAGATTCCTTTAAAT	0.398																																						ENST00000374700.2																			0				breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(1168-1170)aTt>aCt		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						163.0	163.0	163.0					2																	201476122		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201476122T>C	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1169T>C	2.37:g.201476122T>C	ENSP00000363832:p.Ile390Thr					AOX1_ENST00000485106.1_Intron	p.I390T	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			13	1410	+			390			FAD-binding PCMH-type.		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.1169T>C	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.530975	0.64972	.	.	ENSG00000138356	ENST00000374700	T	0.26660	1.72	5.67	5.67	0.87782	FAD-binding, type 2 (2);CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2 (1);Molybdopterin dehydrogenase, FAD-binding (1);	0.265335	0.37304	N	0.002146	T	0.29061	0.0722	L	0.46741	1.465	0.46981	D	0.999276	B	0.21905	0.062	B	0.31337	0.128	T	0.05699	-1.0869	10	0.56958	D	0.05	-22.0323	14.4919	0.67657	0.0:0.0:0.0:1.0	.	390	Q06278	ADO_HUMAN	T	390	ENSP00000363832:I390T	ENSP00000363832:I390T	I	+	2	0	AOX1	201184367	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.687000	0.74552	2.155000	0.67459	0.459000	0.35465	ATT		0.398	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		68	102	0	0	0	0.00361006	0	68	102				
KNSTRN	90417	broad.mit.edu	37	15	40675055	40675055	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:40675055C>A	ENST00000249776.8	+	1	134	c.19C>A	c.(19-21)Ccg>Acg	p.P7T	KNSTRN_ENST00000608100.1_5'Flank|KNSTRN_ENST00000416151.2_Missense_Mutation_p.P7T|KNSTRN_ENST00000448395.2_Missense_Mutation_p.P7T	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		TCCCGAAGCCCCGCCCCTGGA	0.592																																						ENST00000416151.2																			0											c.(19-21)Ccg>Acg		kinetochore-localized astrin/SPAG5 binding protein							18.0	23.0	22.0					15																	40675055		1899	4099	5998	SO:0001583	missense	90417							g.chr15:40675055C>A	AK027408	CCDS42021.1, CCDS45226.1, CCDS45227.1	15q15.1	2013-01-17	2012-12-04	2012-12-04	ENSG00000128944	ENSG00000128944			30767	protein-coding gene	gene with protein product	"""small kinetochore-associated protein"", ""kinetochore-localized astrin-binding protein"", ""TRAF4 associated factor 1"""	614718	"""chromosome 15 open reading frame 23"""	C15orf23		12477932	Standard	NM_033286		Approved	FLJ14502, SKAP, kinastrin, TRAF4AF1	uc001zll.3	Q9Y448	OTTHUMG00000172454	ENST00000249776.8:c.19C>A	15.37:g.40675055C>A	ENSP00000249776:p.Pro7Thr					KNSTRN_ENST00000448395.2_Missense_Mutation_p.P7T|KNSTRN_ENST00000249776.8_Missense_Mutation_p.P7T	p.P7T	NM_001142761.1	NP_001136233.1					1	134	+									Missense_Mutation	SNP	ENST00000249776.8	37	c.19C>A	CCDS42021.1	.	.	.	.	.	.	.	.	.	.	C	5.509	0.278943	0.10458	.	.	ENSG00000128944	ENST00000249776;ENST00000416151;ENST00000448395	T;T;T	0.21361	2.01;2.01;2.01	3.85	-1.72	0.08107	.	1.620070	0.03655	N	0.241622	T	0.09774	0.0240	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.23511	-1.0186	10	0.21540	T	0.41	0.0019	4.2723	0.10792	0.3393:0.3544:0.3062:0.0	.	7;7;7	Q9Y448-2;Q9Y448-3;Q9Y448	.;.;T4AF1_HUMAN	T	7	ENSP00000249776:P7T;ENSP00000391233:P7T;ENSP00000393001:P7T	ENSP00000249776:P7T	P	+	1	0	C15orf23	38462347	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.016000	0.13377	-0.311000	0.08754	-1.053000	0.02334	CCG		0.592	KNSTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418636.1	NM_001142761		10	13	1	0	2.17888e-05	0.000442599	5.90564e-05	10	13				
ABCA8	10351	broad.mit.edu	37	17	66914238	66914238	+	Missense_Mutation	SNP	C	C	T	rs374360241		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr17:66914238C>T	ENST00000269080.2	-	14	2014	c.1877G>A	c.(1876-1878)cGc>cAc	p.R626H	ABCA8_ENST00000586539.1_Missense_Mutation_p.R666H|ABCA8_ENST00000430352.2_Missense_Mutation_p.R666H	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	626	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GAGGATCACGCGGTCTGTTTT	0.458																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(1876-1878)cGc>cAc		ATP-binding cassette, sub-family A (ABC1), member 8		C	HIS/ARG	0,4406		0,0,2203	192.0	151.0	165.0		1877	-3.0	0.0	17		165	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCA8	NM_007168.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	626/1582	66914238	1,13005	2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66914238C>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1877G>A	17.37:g.66914238C>T	ENSP00000269080:p.Arg626His					ABCA8_ENST00000430352.2_Missense_Mutation_p.R666H|ABCA8_ENST00000586539.1_Missense_Mutation_p.R666H	p.R626H	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			14	2014	-	Breast(10;4.56e-13)		626			ABC transporter 1.		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.1877G>A	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	3.235	-0.156575	0.06544	0.0	1.16E-4	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	T;T	0.41065	1.01;1.01	4.26	-2.97	0.05530	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.306262	0.21212	N	0.078300	T	0.38612	0.1047	M	0.77103	2.36	0.22127	N	0.999345	B;B;B;B;B	0.23937	0.094;0.006;0.071;0.011;0.024	B;B;B;B;B	0.24006	0.03;0.009;0.035;0.02;0.05	T	0.39643	-0.9604	10	0.36615	T	0.2	.	10.3828	0.44121	0.0:0.4954:0.0:0.5046	.	605;666;666;666;626	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	H	626;666;605	ENSP00000269080:R626H;ENSP00000402814:R666H	ENSP00000269080:R626H	R	-	2	0	ABCA8	64425833	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.776000	0.26704	-0.379000	0.07906	-0.149000	0.13747	CGC		0.458	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		22	39	0	0	0	0.00332997	0	22	39				
FUT9	10690	broad.mit.edu	37	6	96651555	96651555	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:96651555C>G	ENST00000302103.5	+	3	850	c.524C>G	c.(523-525)aCa>aGa	p.T175R		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	175					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ACGGTAAGCACAAATCCCTTC	0.463																																					Melanoma(98;1369 1476 6592 22940 26587)	ENST00000302103.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34						c.(523-525)aCa>aGa		fucosyltransferase 9 (alpha (1,3) fucosyltransferase)							63.0	59.0	60.0					6																	96651555		2203	4300	6503	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651555C>G	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.524C>G	6.37:g.96651555C>G	ENSP00000302599:p.Thr175Arg						p.T175R	NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	850	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	175					Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.524C>G	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018984	0.35606	.	.	ENSG00000172461	ENST00000302103	T	0.23348	1.91	5.6	5.6	0.85130	.	0.200782	0.52532	D	0.000070	T	0.14313	0.0346	L	0.42008	1.315	0.48901	D	0.999722	B	0.21381	0.055	B	0.28709	0.093	T	0.06607	-1.0817	10	0.17369	T	0.5	-11.2791	18.602	0.91250	0.0:1.0:0.0:0.0	.	175	Q9Y231	FUT9_HUMAN	R	175	ENSP00000302599:T175R	ENSP00000302599:T175R	T	+	2	0	FUT9	96758276	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	2.301000	0.43628	2.643000	0.89663	0.655000	0.94253	ACA		0.463	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		18	38	0	0	0	0.000958276	0	18	38				
CT47B1	643311	broad.mit.edu	37	X	120008943	120008943	+	Silent	SNP	C	C	A	rs139114591		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:120008943C>A	ENST00000371311.3	-	1	836	c.582G>T	c.(580-582)gcG>gcT	p.A194A		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	194										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCTGGACCGACGCAGCCTCCT	0.706																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(580-582)gcG>gcT		cancer/testis antigen family 47, member B1							28.0	27.0	27.0					X																	120008943		692	1589	2281	SO:0001819	synonymous_variant	643311							g.chrX:120008943C>A		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.582G>T	X.37:g.120008943C>A							p.A194A	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	836	-			194					A6NM97	Silent	SNP	ENST00000371311.3	37	c.582G>T	CCDS48161.1																																																																																				0.706	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		38	69	1	0	8.73648e-17	0.00428921	2.94825e-16	38	69				
ODAM	54959	broad.mit.edu	37	4	71068636	71068636	+	Splice_Site	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:71068636T>C	ENST00000396094.2	+	9	858		c.e9+2			NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated						biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						GAAGAGAAGGTAGAGTCATGA	0.353																																						ENST00000396094.2																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						c.e9+2		odontogenic, ameloblast asssociated							58.0	58.0	58.0					4																	71068636		2203	4300	6503	SO:0001630	splice_region_variant	54959				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		g.chr4:71068636T>C	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.810+2T>C	4.37:g.71068636T>C								NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN			9	858	+								Q8WWE5|Q9NWZ9	Splice_Site	SNP	ENST00000396094.2	37		CCDS3536.2	.	.	.	.	.	.	.	.	.	.	T	9.718	1.158937	0.21454	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4526	0.44531	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ODAM	71103225	1.000000	0.71417	0.997000	0.53966	0.182000	0.23217	3.178000	0.50879	2.036000	0.60181	0.533000	0.62120	.		0.353	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855	Intron	13	11	0	0	0	0.00316338	0	13	11				
RP1	6101	broad.mit.edu	37	8	55538955	55538955	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:55538955C>T	ENST00000220676.1	+	4	2661	c.2513C>T	c.(2512-2514)tCt>tTt	p.S838F		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	838					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCACCGCAATCTCAAGCAGAA	0.313																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(2512-2514)tCt>tTt		retinitis pigmentosa 1 (autosomal dominant)							43.0	46.0	45.0					8																	55538955		2200	4298	6498	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538955C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2513C>T	8.37:g.55538955C>T	ENSP00000220676:p.Ser838Phe						p.S838F	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2661	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	838						Missense_Mutation	SNP	ENST00000220676.1	37	c.2513C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	2.234	-0.375351	0.05034	.	.	ENSG00000104237	ENST00000220676	T	0.51574	0.7	5.63	3.81	0.43845	.	0.755119	0.11567	N	0.551155	T	0.32675	0.0837	N	0.22421	0.69	0.09310	N	1	B	0.18741	0.03	B	0.14578	0.011	T	0.21484	-1.0244	10	0.41790	T	0.15	.	7.4736	0.27363	0.0:0.7163:0.1373:0.1464	.	838	P56715	RP1_HUMAN	F	838	ENSP00000220676:S838F	ENSP00000220676:S838F	S	+	2	0	RP1	55701508	0.032000	0.19561	0.018000	0.16275	0.252000	0.25951	0.874000	0.28065	0.693000	0.31634	0.655000	0.94253	TCT		0.313	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		22	32	0	0	0	0.00229938	0	22	32				
ITIH3	3699	broad.mit.edu	37	3	52829637	52829637	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr3:52829637G>T	ENST00000449956.2	+	2	118	c.112G>T	c.(112-114)Ggg>Tgg	p.G38W	ITIH3_ENST00000416872.2_Missense_Mutation_p.G38W	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	38	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCTCCCGGAAGGGGTAAGAAC	0.567																																						ENST00000449956.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(112-114)Ggg>Tgg		inter-alpha-trypsin inhibitor heavy chain 3							26.0	32.0	30.0					3																	52829637		2090	4213	6303	SO:0001583	missense	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52829637G>T		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.112G>T	3.37:g.52829637G>T	ENSP00000415769:p.Gly38Trp					ITIH3_ENST00000416872.2_Missense_Mutation_p.G38W	p.G38W	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	2	118	+			38			VIT.		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	ENST00000449956.2	37	c.112G>T	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.373805	0.61624	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.02837	4.14;4.8	4.17	2.37	0.29283	Vault protein inter-alpha-trypsin (1);Vault protein inter-alpha-trypsin, metazoa (1);	0.950075	0.08821	N	0.888844	T	0.02230	0.0069	N	0.08118	0	0.35467	D	0.796992	P;P	0.51653	0.947;0.911	B;P	0.44359	0.322;0.447	T	0.56475	-0.7973	10	0.66056	D	0.02	-9.1591	6.4221	0.21750	0.2186:0.0:0.7814:0.0	.	38;38	E7ET33;Q06033	.;ITIH3_HUMAN	W	38;38;33;38;38	ENSP00000413922:G38W;ENSP00000415769:G38W	ENSP00000273291:G33W	G	+	1	0	ITIH3	52804677	0.984000	0.35163	0.991000	0.47740	0.958000	0.62258	0.768000	0.26590	0.716000	0.32124	0.591000	0.81541	GGG		0.567	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		5	10	1	0	0.000157383	0.00307968	0.000415298	5	10				
ZW10	9183	broad.mit.edu	37	11	113614600	113614600	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:113614600T>C	ENST00000200135.3	-	10	1579	c.1435A>G	c.(1435-1437)Atc>Gtc	p.I479V		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	479					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GACTCACTGATACGGCATGTG	0.413																																						ENST00000200135.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18						c.(1435-1437)Atc>Gtc		zw10 kinetochore protein							197.0	179.0	185.0					11																	113614600		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113614600T>C	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1435A>G	11.37:g.113614600T>C	ENSP00000200135:p.Ile479Val						p.I479V	NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	10	1579	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	479					A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.1435A>G	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.034119	0.35893	.	.	ENSG00000086827	ENST00000200135	T	0.37058	1.22	5.57	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.30696	0.0773	L	0.53729	1.69	0.58432	D	0.999997	B	0.09022	0.002	B	0.23275	0.045	T	0.07328	-1.0778	10	0.09338	T	0.73	-8.5798	10.3376	0.43858	0.0:0.0778:0.0:0.9222	.	479	O43264	ZW10_HUMAN	V	479	ENSP00000200135:I479V	ENSP00000200135:I479V	I	-	1	0	ZW10	113119810	1.000000	0.71417	0.997000	0.53966	0.682000	0.39822	5.040000	0.64191	0.950000	0.37743	0.377000	0.23210	ATC		0.413	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		30	56	0	0	0	0.001512	0	30	56				
CACNA1B	774	broad.mit.edu	37	9	140901299	140901299	+	Silent	SNP	G	G	A	rs201000167	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:140901299G>A	ENST00000371372.1	+	16	2200	c.2055G>A	c.(2053-2055)tcG>tcA	p.S685S	CACNA1B_ENST00000371363.1_Silent_p.S685S|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Silent_p.S686S|CACNA1B_ENST00000277551.2_Silent_p.S685S|CACNA1B_ENST00000371357.1_Silent_p.S686S	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	685					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GCATGTTCTCGTCCTTTTACT	0.552													G|||	4	0.000798722	0.0	0.0	5008	,	,		20885	0.003		0.0	False		,,,				2504	0.001					ENST00000371372.1																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(2053-2055)tcG>tcA		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)						156.0	155.0	156.0					9																	140901299		2140	4249	6389	SO:0001819	synonymous_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140901299G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.2055G>A	9.37:g.140901299G>A						CACNA1B_ENST00000371357.1_Silent_p.S686S|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Silent_p.S685S|CACNA1B_ENST00000371355.4_Silent_p.S686S|CACNA1B_ENST00000371363.1_Silent_p.S685S	p.S685S	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	16	2200	+	all_cancers(76;0.166)		685					B1AQK5	Silent	SNP	ENST00000371372.1	37	c.2055G>A	CCDS59522.1																																																																																				0.552	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		6	17	0	0	0	0.00198382	0	6	17				
CYP27A1	1593	broad.mit.edu	37	2	219677281	219677281	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:219677281G>T	ENST00000258415.4	+	4	1080	c.653G>T	c.(652-654)tGc>tTc	p.C218F		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	218					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	TCAGCTATTTGCTACATCCTG	0.547																																						ENST00000258415.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26						c.(652-654)tGc>tTc		cytochrome P450, family 27, subfamily A, polypeptide 1	Cholecalciferol(DB00169)						216.0	214.0	215.0					2																	219677281		2203	4300	6503	SO:0001583	missense	1593				bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	g.chr2:219677281G>T	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.653G>T	2.37:g.219677281G>T	ENSP00000258415:p.Cys218Phe						p.C218F	NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	4	1080	+		Renal(207;0.0474)	218					A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	37	c.653G>T	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	G	14.37	2.514646	0.44763	.	.	ENSG00000135929	ENST00000258415;ENST00000411688	T;T	0.69685	-0.42;-0.42	5.91	0.687	0.18020	.	0.542847	0.22706	N	0.056633	T	0.68476	0.3005	M	0.62723	1.935	0.30802	N	0.739788	B	0.25667	0.131	B	0.32393	0.145	T	0.70436	-0.4872	10	0.72032	D	0.01	-12.4566	20.8589	0.99727	0.0:0.7631:0.2369:0.0	.	218	Q02318	CP27A_HUMAN	F	218;124	ENSP00000258415:C218F;ENSP00000392671:C124F	ENSP00000258415:C218F	C	+	2	0	CYP27A1	219385525	0.426000	0.25506	0.993000	0.49108	0.960000	0.62799	0.409000	0.21082	0.102000	0.17638	0.643000	0.83706	TGC		0.547	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			118	155	1	0	7.7863e-71	0.00361006	3.06842e-70	118	155				
GPR158	57512	broad.mit.edu	37	10	25886754	25886754	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr10:25886754G>T	ENST00000376351.3	+	11	2558	c.2199G>T	c.(2197-2199)atG>atT	p.M733I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	733					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.M733I(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAAAGAAGATGATCACAAACA	0.448																																						ENST00000376351.3																			1	Substitution - Missense(1)	p.M733I(1)	urinary_tract(1)	breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(2197-2199)atG>atT		G protein-coupled receptor 158							97.0	111.0	106.0					10																	25886754		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25886754G>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2199G>T	10.37:g.25886754G>T	ENSP00000365529:p.Met733Ile					GPR158_ENST00000490549.1_3'UTR	p.M733I	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			11	2558	+			733					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2199G>T	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.862854	0.71949	.	.	ENSG00000151025	ENST00000376351	T	0.67865	-0.29	5.54	5.54	0.83059	.	0.132073	0.51477	D	0.000083	T	0.81074	0.4747	M	0.62088	1.915	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.81420	-0.0941	10	0.59425	D	0.04	.	19.4771	0.94994	0.0:0.0:1.0:0.0	.	733	Q5T848	GP158_HUMAN	I	733	ENSP00000365529:M733I	ENSP00000365529:M733I	M	+	3	0	GPR158	25926760	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	9.476000	0.97823	2.606000	0.88127	0.650000	0.86243	ATG		0.448	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		34	68	1	0	3.66082e-28	0.00111076	1.3536e-27	34	68				
BCLAF1	9774	broad.mit.edu	37	6	136597402	136597402	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:136597402T>A	ENST00000531224.1	-	5	1513	c.1261A>T	c.(1261-1263)Aaa>Taa	p.K421*	BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.K419*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.K421*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.K419*|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.K419*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	421					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GCAAAACTTTTACCCTGATCT	0.423																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1261-1263)Aaa>Taa		BCL2-associated transcription factor 1							252.0	245.0	247.0					6																	136597402		2203	4300	6503	SO:0001587	stop_gained	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597402T>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1261A>T	6.37:g.136597402T>A	ENSP00000435210:p.Lys421*					BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.K419*|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.K419*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.K419*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.K421*	p.K421*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1513	-	Colorectal(23;0.24)		421					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Nonsense_Mutation	SNP	ENST00000531224.1	37	c.1261A>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	38	6.967585	0.97971	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	.	.	.	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.687	15.465	0.75394	0.0:0.0:0.0:1.0	.	.	.	.	X	421;419;421;419;419;421	.	ENSP00000229446:K419X	K	-	1	0	BCLAF1	136639095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.569000	0.53827	2.115000	0.64714	0.528000	0.53228	AAA		0.423	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		97	225	0	0	0	0.00361006	0	97	225				
KCNH7	90134	broad.mit.edu	37	2	163292054	163292054	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:163292054G>T	ENST00000332142.5	-	8	1707	c.1608C>A	c.(1606-1608)cgC>cgA	p.R536R	KCNH7_ENST00000328032.4_Silent_p.R529R	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	536					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TCCTGGCCACGCGCACAAGAC	0.453																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(1606-1608)cgC>cgA		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						66.0	65.0	65.0					2																	163292054		2203	4300	6503	SO:0001819	synonymous_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163292054G>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1608C>A	2.37:g.163292054G>T						KCNH7_ENST00000328032.4_Silent_p.R529R	p.R536R	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			8	1707	-			536					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	c.1608C>A	CCDS2219.1																																																																																				0.453	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		18	24	1	0	3.52763e-06	0.000566183	9.6929e-06	18	24				
ATP1A2	477	broad.mit.edu	37	1	160097392	160097392	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:160097392C>T	ENST00000361216.3	+	8	888	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R267C	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	267					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGTGATGGGCCGCATAGCTAC	0.592																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(799-801)Cgc>Tgc		ATPase, Na+/K+ transporting, alpha 2 polypeptide							100.0	88.0	92.0					1																	160097392		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160097392C>T	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.799C>T	1.37:g.160097392C>T	ENSP00000354490:p.Arg267Cys					ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.R267C	p.R267C	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		8	888	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		267					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.799C>T	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874373	0.91664	.	.	ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233	D;D	0.91792	-2.91;-2.91	4.89	4.89	0.63831	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.97318	0.9123	H	0.96333	3.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.98559	1.0640	10	0.87932	D	0	.	17.1782	0.86846	0.0:1.0:0.0:0.0	.	112;167;267	B4DHD7;F5GXJ7;P50993	.;.;AT1A2_HUMAN	C	112;267;267	ENSP00000354490:R267C;ENSP00000376066:R267C	ENSP00000354490:R267C	R	+	1	0	ATP1A2	158364016	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.901000	0.63259	2.410000	0.81850	0.561000	0.74099	CGC		0.592	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		31	49	0	0	0	0.001512	0	31	49				
LTB4R	1241	broad.mit.edu	37	14	24785367	24785367	+	Silent	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:24785367G>T	ENST00000396789.4	+	2	2235	c.510G>T	c.(508-510)ccG>ccT	p.P170P	LTB4R_ENST00000396782.2_Silent_p.P170P|LTB4R_ENST00000345363.3_Silent_p.P170P	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	170					cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle contraction (GO:0006936)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)|nucleotide binding (GO:0000166)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		TGTGCTTCCCGCGGTACCCCA	0.622																																						ENST00000396789.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8						c.(508-510)ccG>ccT		leukotriene B4 receptor							71.0	74.0	73.0					14																	24785367		2203	4300	6503	SO:0001819	synonymous_variant	1241				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding	g.chr14:24785367G>T	X98356	CCDS9626.1	14q11.2-q12	2012-08-10			ENSG00000213903	ENSG00000213903		"""GPCR / Class A : Leukotriene receptors"""	6713	protein-coding gene	gene with protein product		601531		P2RY7, GPR16, CMKRL1		8921391, 8702478	Standard	NM_181657		Approved	BLTR, P2Y7, LTB4R1	uc001wos.3	Q15722	OTTHUMG00000029346	ENST00000396789.4:c.510G>T	14.37:g.24785367G>T						LTB4R_ENST00000345363.3_Silent_p.P170P|LTB4R_ENST00000396782.2_Silent_p.P170P	p.P170P	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	2	2235	+			170					Q13305|Q53XV5|Q92641|Q9BSU5	Silent	SNP	ENST00000396789.4	37	c.510G>T	CCDS9626.1																																																																																				0.622	LTB4R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073198.4			39	25	1	0	4.0492e-12	0.00148497	1.28672e-11	39	25				
SERPINA9	327657	broad.mit.edu	37	14	94933495	94933495	+	Missense_Mutation	SNP	C	C	A	rs561114629		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:94933495C>A	ENST00000380365.3	-	3	931	c.853G>T	c.(853-855)Gcc>Tcc	p.A285S	SERPINA9_ENST00000424550.2_Missense_Mutation_p.A154S|SERPINA9_ENST00000539349.1_5'Flank|SERPINA9_ENST00000337425.5_Missense_Mutation_p.A303S|SERPINA9_ENST00000448305.2_Missense_Mutation_p.A205S|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000298845.7_Missense_Mutation_p.A203S|SERPINA9_ENST00000546329.1_Missense_Mutation_p.A267S			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	285					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GCTGACAAGGCCTGTTCCAGT	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		21908	0.0		0.0	False		,,,				2504	0.001					ENST00000337425.5																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21						c.(907-909)Gcc>Tcc		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9							112.0	107.0	109.0					14																	94933495		2010	4193	6203	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94933495C>A	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.853G>T	14.37:g.94933495C>A	ENSP00000369723:p.Ala285Ser					SERPINA9_ENST00000298845.7_Missense_Mutation_p.A203S|SERPINA9_ENST00000424550.2_Missense_Mutation_p.A154S|SERPINA9_ENST00000380365.3_Missense_Mutation_p.A285S|SERPINA9_ENST00000448305.2_Missense_Mutation_p.A205S|SERPINA9_ENST00000546329.1_Missense_Mutation_p.A267S	p.A303S	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	3	981	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	285					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.907G>T		.	.	.	.	.	.	.	.	.	.	C	6.912	0.537925	0.13188	.	.	ENSG00000170054	ENST00000448305;ENST00000298845;ENST00000424550;ENST00000337425;ENST00000380365;ENST00000546329	D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	3.57	0.647	0.17796	Serpin domain (3);	0.441737	0.21005	N	0.081781	T	0.68641	0.3023	N	0.20357	0.565	0.09310	N	1	B;B;B;B;B	0.17038	0.018;0.001;0.001;0.004;0.02	B;B;B;B;B	0.30782	0.085;0.04;0.022;0.054;0.12	T	0.53315	-0.8456	10	0.15952	T	0.53	.	8.659	0.34081	0.0:0.707:0.0:0.293	.	267;285;205;303;203	Q86WD7-4;Q86WD7;Q86WD7-6;Q86WD7-7;Q86WD7-2	.;SPA9_HUMAN;.;.;.	S	205;203;154;303;285;267	ENSP00000414092:A205S;ENSP00000298845:A203S;ENSP00000409012:A154S;ENSP00000337133:A303S;ENSP00000369723:A285S;ENSP00000445476:A267S	ENSP00000298845:A203S	A	-	1	0	SERPINA9	94003248	0.000000	0.05858	0.070000	0.20053	0.972000	0.66771	0.274000	0.18680	0.309000	0.22966	-0.448000	0.05591	GCC		0.537	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		19	20	1	0	8.00594e-06	0.000958276	2.18476e-05	19	20				
MTUS2	23281	broad.mit.edu	37	13	29898764	29898764	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr13:29898764G>T	ENST00000431530.3	+	5	2909	c.2851G>T	c.(2851-2853)Gct>Tct	p.A951S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	941	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.A951T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAAGAAAGATGCTCAGAAAGA	0.378																																						ENST00000431530.3																			1	Substitution - Missense(1)	p.A951T(1)	ovary(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(2851-2853)Gct>Tct		microtubule associated tumor suppressor candidate 2							75.0	64.0	67.0					13																	29898764		1855	4101	5956	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29898764G>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2851G>T	13.37:g.29898764G>T	ENSP00000392057:p.Ala951Ser						p.A951S	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			5	2909	+			941			Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2851G>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	G	2.649	-0.282452	0.05642	.	.	ENSG00000132938	ENST00000431530	T	0.12255	2.7	4.75	0.87	0.19102	.	1.255290	0.05486	N	0.555590	T	0.08088	0.0202	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.18561	0.022	T	0.41502	-0.9505	9	.	.	.	.	4.9449	0.13984	0.0842:0.2632:0.518:0.1346	.	941	Q5JR59	MTUS2_HUMAN	S	951	ENSP00000392057:A951S	.	A	+	1	0	MTUS2	28796764	0.415000	0.25416	0.017000	0.16124	0.266000	0.26442	0.466000	0.22019	-0.273000	0.09246	-1.284000	0.01376	GCT		0.378	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		6	0	1	0	2.0095e-06	0.00198382	5.57263e-06	6	0				
OR8K5	219453	broad.mit.edu	37	11	55927362	55927362	+	Silent	SNP	C	C	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:55927362C>G	ENST00000313447.1	-	1	431	c.432G>C	c.(430-432)ctG>ctC	p.L144L		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L144L(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GAATGCCCACCAGTACATGAC	0.403																																						ENST00000313447.1																			1	Substitution - coding silent(1)	p.L144L(1)	large_intestine(1)	large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(430-432)ctG>ctC		olfactory receptor, family 8, subfamily K, member 5							89.0	90.0	90.0					11																	55927362		2201	4296	6497	SO:0001819	synonymous_variant	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927362C>G	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.432G>C	11.37:g.55927362C>G							p.L144L	NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN			1	431	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	144					Q6IFB5	Silent	SNP	ENST00000313447.1	37	c.432G>C	CCDS31521.1																																																																																				0.403	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		32	71	0	0	0	0.00283554	0	32	71				
RASEF	158158	broad.mit.edu	37	9	85627405	85627405	+	Missense_Mutation	SNP	C	C	T	rs370500066		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:85627405C>T	ENST00000376447.3	-	5	1047	c.787G>A	c.(787-789)Gta>Ata	p.V263I		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	263					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTTGACTTACGCGTTTTGAT	0.333																																						ENST00000376447.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(787-789)Gta>Ata		RAS and EF-hand domain containing		C	ILE/VAL	1,4399		0,1,2199	120.0	99.0	106.0		787	-4.7	0.4	9		106	0,8596		0,0,4298	no	missense	RASEF	NM_152573.2	29	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	benign	263/741	85627405	1,12995	2200	4298	6498	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85627405C>T	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.787G>A	9.37:g.85627405C>T	ENSP00000365630:p.Val263Ile						p.V263I	NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN			5	1047	-			263					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.787G>A	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	C	2.108	-0.404441	0.04832	2.27E-4	0.0	ENSG00000165105	ENST00000376447	T	0.59502	0.26	5.16	-4.66	0.03329	.	0.339698	0.32935	N	0.005466	T	0.11495	0.0280	N	0.00419	-1.52	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38200	-0.9672	10	0.02654	T	1	.	0.9911	0.01457	0.2162:0.2035:0.1113:0.469	.	263	Q8IZ41	RASEF_HUMAN	I	263	ENSP00000365630:V263I	ENSP00000365630:V263I	V	-	1	0	RASEF	84817225	0.001000	0.12720	0.438000	0.26821	0.882000	0.50991	-0.932000	0.03963	-0.519000	0.06444	-1.413000	0.01118	GTA		0.333	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		5	14	0	0	0	0.000602214	0	5	14				
COL11A1	1301	broad.mit.edu	37	1	103461595	103461595	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:103461595G>A	ENST00000370096.3	-	27	2557	c.2245C>T	c.(2245-2247)Ccc>Tcc	p.P749S	COL11A1_ENST00000353414.4_Missense_Mutation_p.P710S|COL11A1_ENST00000512756.1_Missense_Mutation_p.P633S|COL11A1_ENST00000358392.2_Missense_Mutation_p.P761S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	749	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGACCAGGGGGACCCTGAAAT	0.363																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(2281-2283)Ccc>Tcc		collagen, type XI, alpha 1							39.0	44.0	42.0					1																	103461595		2201	4300	6501	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103461595G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2245C>T	1.37:g.103461595G>A	ENSP00000359114:p.Pro749Ser					COL11A1_ENST00000512756.1_Missense_Mutation_p.P633S|COL11A1_ENST00000370096.3_Missense_Mutation_p.P749S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P710S	p.P761S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	27	2598	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	749			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2281C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878738	0.91740	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.98649	-5.05;-5.05;-4.06;-4.06	5.71	5.71	0.89125	.	0.121454	0.56097	D	0.000028	D	0.98267	0.9426	L	0.33093	0.98	0.80722	D	1	D;P;P;P	0.56746	0.977;0.873;0.873;0.799	D;B;B;B	0.66602	0.945;0.356;0.356;0.194	D	0.99331	1.0909	10	0.52906	T	0.07	.	19.8579	0.96771	0.0:0.0:1.0:0.0	.	633;710;761;749	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	S	749;761;710;633	ENSP00000359114:P749S;ENSP00000351163:P761S;ENSP00000302551:P710S;ENSP00000426533:P633S	ENSP00000302551:P710S	P	-	1	0	COL11A1	103234183	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.245000	0.78237	2.687000	0.91594	0.655000	0.94253	CCC		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		28	46	0	0	0	0.001512	0	28	46				
VWA7	80737	broad.mit.edu	37	6	31743183	31743183	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:31743183C>T	ENST00000375688.4	-	4	737	c.537G>A	c.(535-537)tgG>tgA	p.W179*	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Nonsense_Mutation_p.W179*|VWA7_ENST00000375686.3_Nonsense_Mutation_p.W179*			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	179						extracellular region (GO:0005576)											CCAGCTCCACCCAGTTGCTAT	0.587																																						ENST00000375686.3																			0											c.(535-537)tgG>tgA		von Willebrand factor A domain containing 7							73.0	53.0	60.0					6																	31743183		1510	2709	4219	SO:0001587	stop_gained	80737					extracellular region		g.chr6:31743183C>T		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.537G>A	6.37:g.31743183C>T	ENSP00000364840:p.Trp179*					VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Nonsense_Mutation_p.W179*|VWA7_ENST00000447450.1_Nonsense_Mutation_p.W179*	p.W179*	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			4	774	-			179					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Nonsense_Mutation	SNP	ENST00000375688.4	37	c.537G>A	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	C	39	7.820747	0.98507	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	.	.	.	5.67	5.67	0.87782	.	0.181107	0.50627	D	0.000118	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0657	17.2564	0.87057	0.0:1.0:0.0:0.0	.	.	.	.	X	179	.	ENSP00000364838:W179X	W	-	3	0	C6orf27	31851162	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.583000	0.74053	2.676000	0.91093	0.561000	0.74099	TGG		0.587	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		35	20	0	0	0	0.00283554	0	35	20				
COL5A2	1290	broad.mit.edu	37	2	189909940	189909940	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:189909940C>A	ENST00000374866.3	-	47	3602	c.3328G>T	c.(3328-3330)Gga>Tga	p.G1110*		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1110					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAGGTGGTCCTATAGGACCC	0.323																																						ENST00000374866.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(3328-3330)Gga>Tga		collagen, type V, alpha 2							29.0	32.0	31.0					2																	189909940		2202	4300	6502	SO:0001587	stop_gained	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189909940C>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.3328G>T	2.37:g.189909940C>A	ENSP00000364000:p.Gly1110*						p.G1110*	NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		47	3602	-			1110					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Nonsense_Mutation	SNP	ENST00000374866.3	37	c.3328G>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	45	11.291313	0.99542	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.96	5.96	0.96718	.	0.000000	0.52532	D	0.000063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5779	0.87956	0.0:1.0:0.0:0.0	.	.	.	.	X	1110;750	.	ENSP00000364000:G1110X	G	-	1	0	COL5A2	189618185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.536000	0.82023	2.832000	0.97577	0.655000	0.94253	GGA		0.323	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		12	17	1	0	2.62699e-14	0.00316338	8.52881e-14	12	17				
DMD	1756	broad.mit.edu	37	X	32361265	32361265	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:32361265C>A	ENST00000357033.4	-	40	5931	c.5725G>T	c.(5725-5727)Gaa>Taa	p.E1909*	DMD_ENST00000378677.2_Nonsense_Mutation_p.E1905*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1909	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATTTTCCTTTCATCTCTGGGC	0.343																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(5725-5727)Gaa>Taa		dystrophin							85.0	79.0	81.0					X																	32361265		2202	4300	6502	SO:0001587	stop_gained	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32361265C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5725G>T	X.37:g.32361265C>A	ENSP00000354923:p.Glu1909*					DMD_ENST00000378677.2_Nonsense_Mutation_p.E1905*	p.E1909*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			40	5931	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1909			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	c.5725G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	47	13.243019	0.99729	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000493412	.	.	.	6.06	6.06	0.98353	.	0.000000	0.37577	U	0.002031	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	12.8254	0.57716	0.0:0.9242:0.0:0.0758	.	.	.	.	X	1901;568;565;1905;1909;1909;1786;128	.	ENSP00000354923:E1909X	E	-	1	0	DMD	32271186	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.006000	0.63978	2.560000	0.86352	0.594000	0.82650	GAA		0.343	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		25	12	1	0	7.07758e-08	0.000720815	2.04312e-07	25	12				
MUC16	94025	broad.mit.edu	37	19	9064360	9064360	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:9064360C>T	ENST00000397910.4	-	3	23289	c.23086G>A	c.(23086-23088)Gtg>Atg	p.V7696M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7698	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V7696M(2)|p.V3329M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGAGGTCACGGCAGGTAAA	0.582																																						ENST00000397910.4																			3	Substitution - Missense(3)	p.V7696M(2)|p.V3329M(1)	prostate(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(23086-23088)Gtg>Atg		mucin 16, cell surface associated							89.0	97.0	94.0					19																	9064360		2057	4189	6246	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064360C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.23086G>A	19.37:g.9064360C>T	ENSP00000381008:p.Val7696Met						p.V7696M	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	23289	-			7698			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.23086G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	1.467	-0.560793	0.03939	.	.	ENSG00000181143	ENST00000397910	T	0.20069	2.1	2.22	-2.35	0.06684	.	.	.	.	.	T	0.09113	0.0225	N	0.12182	0.205	.	.	.	B	0.06786	0.001	B	0.06405	0.002	T	0.25012	-1.0144	8	0.87932	D	0	.	1.0026	0.01480	0.1728:0.1825:0.1463:0.4985	.	7696	B5ME49	.	M	7696	ENSP00000381008:V7696M	ENSP00000381008:V7696M	V	-	1	0	MUC16	8925360	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.741000	0.00191	-2.163000	0.00783	-2.597000	0.00163	GTG		0.582	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		18	49	0	0	0	0.00152264	0	18	49				
ZNF630	57232	broad.mit.edu	37	X	47918863	47918863	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:47918863T>A	ENST00000409324.3	-	5	1194	c.968A>T	c.(967-969)aAg>aTg	p.K323M	ZNF630_ENST00000442455.3_Missense_Mutation_p.K309M|ZNF630_ENST00000276054.4_Missense_Mutation_p.K199M|ZNF630-AS1_ENST00000436124.1_RNA	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	323					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TCTTCCATACTTAGTACATTC	0.433																																						ENST00000276054.4																			0				endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						c.(595-597)aAg>aTg		zinc finger protein 630							59.0	53.0	55.0					X																	47918863		2194	4291	6485	SO:0001583	missense	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47918863T>A	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.968A>T	X.37:g.47918863T>A	ENSP00000386393:p.Lys323Met					ZNF630_ENST00000409324.3_Missense_Mutation_p.K323M|ZNF630_ENST00000442455.3_Missense_Mutation_p.K309M|ZNF630-AS1_ENST00000436124.1_RNA	p.K199M			Q2M218	ZN630_HUMAN			5	1530	-			323					F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	c.596A>T	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	7.931	0.740652	0.15642	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.35421	1.31;1.31;1.31	2.31	1.01	0.19927	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24624	0.0597	L	0.28344	0.845	0.09310	N	1	B	0.23540	0.087	B	0.28553	0.091	T	0.29852	-0.9998	9	0.87932	D	0	.	5.3307	0.15930	0.2568:0.0:0.0:0.7432	.	323	Q2M218	ZN630_HUMAN	M	309;199;323	ENSP00000393163:K309M;ENSP00000354683:K199M;ENSP00000386393:K323M	ENSP00000354683:K199M	K	-	2	0	ZNF630	47803807	0.000000	0.05858	0.724000	0.30704	0.794000	0.44872	-0.205000	0.09411	0.057000	0.16193	-0.540000	0.04249	AAG		0.433	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		26	7	0	0	0	0.00395357	0	26	7				
GRIA4	2893	broad.mit.edu	37	11	105795455	105795455	+	Silent	SNP	C	C	T			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr11:105795455C>T	ENST00000530497.1	+	11	1807	c.1807C>T	c.(1807-1809)Ctg>Ttg	p.L603L	GRIA4_ENST00000525187.1_Silent_p.L603L|GRIA4_ENST00000282499.5_Silent_p.L603L|GRIA4_ENST00000393127.2_Silent_p.L603L			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	603					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CTGGTTTTCCCTGGGTGCTTT	0.463																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(1807-1809)Ctg>Ttg		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						84.0	73.0	77.0					11																	105795455		2202	4299	6501	SO:0001819	synonymous_variant	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105795455C>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1807C>T	11.37:g.105795455C>T						GRIA4_ENST00000282499.5_Silent_p.L603L|GRIA4_ENST00000525187.1_Silent_p.L603L|GRIA4_ENST00000530497.1_Silent_p.L603L	p.L603L	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	12	2253	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	603					Q86XE8	Silent	SNP	ENST00000530497.1	37	c.1807C>T	CCDS8333.1																																																																																				0.463	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			25	29	0	0	0	0.00395357	0	25	29				
FAM210A	125228	broad.mit.edu	37	18	13681843	13681843	+	Silent	SNP	T	T	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr18:13681843T>A	ENST00000322247.3	-	3	621	c.234A>T	c.(232-234)ccA>ccT	p.P78P	FAM210A_ENST00000402563.1_Silent_p.P78P|FAM210A_ENST00000588475.1_5'UTR	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	78						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											GAAGGACTCCTGGTTGGGGTG	0.488																																						ENST00000322247.3																			0											c.(232-234)ccA>ccT		family with sequence similarity 210, member A							185.0	182.0	183.0					18																	13681843		2203	4300	6503	SO:0001819	synonymous_variant	125228					integral to membrane		g.chr18:13681843T>A	AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 19"""	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.234A>T	18.37:g.13681843T>A						FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Silent_p.P78P	p.P78P	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN			3	621	-			78					D3DUJ4	Silent	SNP	ENST00000322247.3	37	c.234A>T	CCDS11866.1																																																																																				0.488	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1	NM_152352		59	108	0	0	0	0.00361006	0	59	108				
LONRF1	91694	broad.mit.edu	37	8	12586411	12586411	+	Splice_Site	SNP	T	T	G	rs201800084		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr8:12586411T>G	ENST00000398246.3	-	10	2078	c.2009A>C	c.(2008-2010)aAg>aCg	p.K670T	LONRF1_ENST00000525024.1_Splice_Site_p.K96T|LONRF1_ENST00000533751.1_Splice_Site_p.K313T|MIR3926-2_ENST00000578598.1_RNA	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	670	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TTAAAATACCTTAACATCTTC	0.403													T|||	1	0.000199681	0.0	0.0	5008	,	,		21994	0.001		0.0	False		,,,				2504	0.0					ENST00000398246.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.e10+1		LON peptidase N-terminal domain and ring finger 1							150.0	144.0	146.0					8																	12586411		1877	4113	5990	SO:0001630	splice_region_variant	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12586411T>G	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.2010+1A>C	8.37:g.12586411T>G						LONRF1_ENST00000533751.1_Splice_Site_p.K313_splice|LONRF1_ENST00000525024.1_Splice_Site_p.K96_splice	p.K670_splice	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	10	2078	-			670			Lon.		B4DM29|B4DU84|Q8TEA0|Q9BSV1	Splice_Site	SNP	ENST00000398246.3	37	c.2010_splice	CCDS5987.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	18.53	3.643118	0.67244	.	.	ENSG00000154359	ENST00000398246;ENST00000525024;ENST00000533751;ENST00000524526	D;T;D	0.85955	-2.05;-1.42;-1.52	5.04	5.04	0.67666	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.196222	0.53938	D	0.000052	D	0.91446	0.7300	M	0.78801	2.425	0.49915	D	0.999837	D;D	0.63880	0.991;0.993	P;D	0.66497	0.908;0.944	D	0.91704	0.5376	10	0.48119	T	0.1	-10.1204	15.4855	0.75564	0.0:0.0:0.0:1.0	.	659;670	Q17RB8-2;Q17RB8	.;LONF1_HUMAN	T	670;96;313;273	ENSP00000381298:K670T;ENSP00000432130:K313T;ENSP00000433327:K273T	ENSP00000381298:K670T	K	-	2	0	LONRF1	12630782	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	4.811000	0.62606	2.206000	0.71126	0.455000	0.32223	AAG		0.403	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271	Missense_Mutation	28	47	0	0	0	0.000878237	0	28	47				
PRAMEF18	391003	broad.mit.edu	37	1	13474788	13474788	+	Frame_Shift_Del	DEL	G	G	-	rs200939483	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:13474788delG	ENST00000376126.2	-	3	1340	c.1341delC	c.(1339-1341)cccfs	p.P447fs		NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN	PRAME family member 18	447					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					lung(2)|ovary(1)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGATCCTGTTGGGCTCCCTTA	0.562																																						ENST00000376126.2																			0				lung(2)|ovary(1)	3						c.(1339-1341)ccfs		PRAME family member 18							1.0	2.0	2.0					1																	13474788		1025	2320	3345	SO:0001589	frameshift_variant	391003							g.chr1:13474788delG			1p36.21	2013-01-17			ENSG00000204491			"""-"""	30693	protein-coding gene	gene with protein product							Standard			Approved	OTTHUMG00000002932		Q5VWM3	OTTHUMG00000002932	ENST00000376126.2:c.1341delC	1.37:g.13474788delG	ENSP00000365294:p.Pro447fs						p.P447fs	NM_001099850.1	NP_001093320.1	Q5VWM3	PRA18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1340	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	447						Frame_Shift_Del	DEL	ENST00000376126.2	37	c.1341delC	CCDS41258.1																																																																																				0.562	PRAMEF18-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008177.2	NM_001099850		3	6						3	6	---	---	---	---
AK5	26289	broad.mit.edu	37	1	77752660	77752660	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:77752660delA	ENST00000354567.2	+	2	358	c.95delA	c.(94-96)gaafs	p.E32fs	AK5_ENST00000344720.5_Frame_Shift_Del_p.E6fs|AK5_ENST00000317704.4_3'UTR	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	32					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						TCTAAGCCCGAAGATCCAGTA	0.338																																						ENST00000344720.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						c.(16-18)gafs		adenylate kinase 5							77.0	80.0	79.0					1																	77752660		2203	4300	6503	SO:0001589	frameshift_variant	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:77752660delA	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.95delA	1.37:g.77752660delA	ENSP00000346577:p.Glu32fs					AK5_ENST00000354567.2_Frame_Shift_Del_p.E32fs|AK5_ENST00000317704.4_3'UTR	p.E6fs	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN			2	1043	+			32					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Frame_Shift_Del	DEL	ENST00000354567.2	37	c.17delA	CCDS675.1																																																																																				0.338	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858		32	36						32	36	---	---	---	---
OR11L1	391189	broad.mit.edu	37	1	248004498	248004499	+	Frame_Shift_Ins	INS	-	-	A	rs147783465	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr1:248004498_248004499insA	ENST00000355784.2	-	1	755_756	c.700_701insT	c.(700-702)cggfs	p.R234fs		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	234						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R234Q(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGTCTTTCTCCGGCCAGAGGTG	0.505																																						ENST00000355784.2																			1	Substitution - Missense(1)	p.R234Q(1)	lung(1)	NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(700-702)gagfs		olfactory receptor, family 11, subfamily L, member 1																																				SO:0001589	frameshift_variant	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004498_248004499insA	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.700_701insT	1.37:g.248004498_248004499insA	ENSP00000348033:p.Arg234fs						p.E234fs	NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	755_756	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		234						Frame_Shift_Ins	INS	ENST00000355784.2	37	c.700_701insT	CCDS31098.1																																																																																				0.505	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		21	65						21	65	---	---	---	---
PTH2R	5746	broad.mit.edu	37	2	209308142	209308142	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:209308142delC	ENST00000272847.2	+	6	792	c.579delC	c.(577-579)agcfs	p.S193fs	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	193					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	GAGCTACAAGCATCTTTGTCA	0.398																																						ENST00000272847.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(577-579)agfs		parathyroid hormone 2 receptor							127.0	115.0	119.0					2																	209308142		2203	4300	6503	SO:0001589	frameshift_variant	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209308142delC	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.579delC	2.37:g.209308142delC	ENSP00000272847:p.Ser193fs					PTH2R_ENST00000413482.1_3'UTR	p.S193fs	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	6	792	+			193					Q8N429	Frame_Shift_Del	DEL	ENST00000272847.2	37	c.579delC	CCDS2383.1																																																																																				0.398	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		24	33						24	33	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216271041	216271041	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr2:216271041delG	ENST00000359671.1	-	19	3171	c.2906delC	c.(2905-2907)cctfs	p.P969fs	FN1_ENST00000443816.1_Frame_Shift_Del_p.P969fs|FN1_ENST00000432072.2_Frame_Shift_Del_p.P969fs|FN1_ENST00000356005.4_Frame_Shift_Del_p.P969fs|FN1_ENST00000357867.4_Frame_Shift_Del_p.P969fs|FN1_ENST00000336916.4_Frame_Shift_Del_p.P969fs|FN1_ENST00000323926.6_Frame_Shift_Del_p.P969fs|FN1_ENST00000354785.4_Frame_Shift_Del_p.P969fs|FN1_ENST00000446046.1_Frame_Shift_Del_p.P969fs|FN1_ENST00000345488.5_Frame_Shift_Del_p.P969fs|FN1_ENST00000357009.2_Frame_Shift_Del_p.P969fs|FN1_ENST00000421182.1_Frame_Shift_Del_p.P969fs|FN1_ENST00000346544.3_Frame_Shift_Del_p.P969fs			P02751	FINC_HUMAN	fibronectin 1	969	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GGTGACCCCAGGGGACAGCCC	0.567																																						ENST00000354785.4																		FN1/ALK(2)	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109						c.(2905-2907)ctfs		fibronectin 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						60.0	63.0	62.0					2																	216271041		2203	4300	6503	SO:0001589	frameshift_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216271041delG		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2906delC	2.37:g.216271041delG	ENSP00000352696:p.Pro969fs					FN1_ENST00000446046.1_Frame_Shift_Del_p.P969fs|FN1_ENST00000345488.5_Frame_Shift_Del_p.P969fs|FN1_ENST00000336916.4_Frame_Shift_Del_p.P969fs|FN1_ENST00000346544.3_Frame_Shift_Del_p.P969fs|FN1_ENST00000359671.1_Frame_Shift_Del_p.P969fs|FN1_ENST00000323926.6_Frame_Shift_Del_p.P969fs|FN1_ENST00000357867.4_Frame_Shift_Del_p.P969fs|FN1_ENST00000357009.2_Frame_Shift_Del_p.P969fs|FN1_ENST00000421182.1_Frame_Shift_Del_p.P969fs|FN1_ENST00000432072.2_Frame_Shift_Del_p.P969fs|FN1_ENST00000356005.4_Frame_Shift_Del_p.P969fs|FN1_ENST00000443816.1_Frame_Shift_Del_p.P969fs	p.P969fs			P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	19	3275	-		Renal(323;0.127)	969			Fibronectin type-III 4.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Frame_Shift_Del	DEL	ENST00000359671.1	37	c.2906delC																																																																																					0.567	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		27	51						27	51	---	---	---	---
PDHA2	5161	broad.mit.edu	37	4	96762121	96762121	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:96762121delG	ENST00000295266.4	+	1	883	c.820delG	c.(820-822)ggafs	p.G274fs		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	274					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CTGTAGATCTGGAAAGGGGCC	0.458																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(820-822)gafs		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						118.0	120.0	119.0					4																	96762121		2203	4300	6503	SO:0001589	frameshift_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762121delG		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.820delG	4.37:g.96762121delG	ENSP00000295266:p.Gly274fs						p.G274fs	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	883	+		Hepatocellular(203;0.114)	274					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Frame_Shift_Del	DEL	ENST00000295266.4	37	c.820delG	CCDS3644.1																																																																																				0.458	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			39	17						39	17	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187557372	187557372	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr4:187557372delA	ENST00000441802.2	-	6	4199	c.3990delT	c.(3988-3990)aatfs	p.N1330fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1330	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.		N -> S (in dbSNP:rs874111).		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						GAGGGCGACCATTGTCAACTG	0.428										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.(3988-3990)aafs		FAT atypical cadherin 1							78.0	74.0	75.0					4																	187557372		1936	4143	6079	SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187557372delA	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.3990delT	4.37:g.187557372delA	ENSP00000406229:p.Asn1330fs	HNSCC(5;0.00058)					p.N1330fs	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			6	4199	-			1330		N -> S (in dbSNP:rs874111).	Cadherin 11.			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.3990delT	CCDS47177.1																																																																																				0.428	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		24	12						24	12	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176675268	176675269	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr5:176675268_176675269insA	ENST00000439151.2	+	11	4629_4630	c.4584_4585insA	c.(4585-4587)aaafs	p.K1529fs	NSD1_ENST00000361032.4_Frame_Shift_Ins_p.K1426fs|NSD1_ENST00000354179.4_Frame_Shift_Ins_p.K1260fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.K1260fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1529					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGCCTGCCTCTAAAAAAATGCA	0.495			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(4582-4587)tcaaaafs		nuclear receptor binding SET domain protein 1																																				SO:0001589	frameshift_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176675268_176675269insA	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4591dupA	5.37:g.176675275_176675275dupA	ENSP00000395929:p.Lys1529fs	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Frame_Shift_Ins_p.SK1425fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.SK1259fs|NSD1_ENST00000354179.4_Frame_Shift_Ins_p.SK1259fs	p.SK1528fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	11	4629_4630	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1528					Q96PD8|Q96RN7	Frame_Shift_Ins	INS	ENST00000439151.2	37	c.4584_4585insA	CCDS4412.1																																																																																				0.495	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		10	10						10	10	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7568065	7568066	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:7568065_7568066insC	ENST00000379802.3	+	10	1533_1534	c.1192_1193insC	c.(1192-1194)tccfs	p.S398fs	DSP_ENST00000418664.2_Frame_Shift_Ins_p.S398fs	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	398	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		GCTCCAGGACTCCATCAGGAAG	0.515																																						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.(1192-1194)catfs		desmoplakin																																				SO:0001589	frameshift_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7568065_7568066insC	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.1194dupC	6.37:g.7568067_7568067dupC	ENSP00000369129:p.Ser398fs					DSP_ENST00000418664.2_Frame_Shift_Ins_p.H398fs	p.H398fs	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	10	1533_1534	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	398			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Frame_Shift_Ins	INS	ENST00000379802.3	37	c.1192_1193insC	CCDS4501.1																																																																																				0.515	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		16	51						16	51	---	---	---	---
BAI3	577	broad.mit.edu	37	6	70092801	70092802	+	Frame_Shift_Ins	INS	-	-	G	rs148278852		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:70092801_70092802insG	ENST00000370598.1	+	31	5175_5176	c.4354_4355insG	c.(4354-4356)cggfs	p.R1452fs	BAI3_ENST00000546190.1_Frame_Shift_Ins_p.R416fs|BAI3_ENST00000238918.8_Frame_Shift_Ins_p.R658fs	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1452					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R1452W(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGACAGATTTCGGGATATACCA	0.386																																						ENST00000370598.1																			1	Substitution - Missense(1)	p.R1452W(1)	large_intestine(1)	NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(4354-4356)ggafs		brain-specific angiogenesis inhibitor 3																																				SO:0001589	frameshift_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70092801_70092802insG	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.4357dupG	6.37:g.70092804_70092804dupG	ENSP00000359630:p.Arg1452fs					BAI3_ENST00000238918.8_Frame_Shift_Ins_p.G658fs|BAI3_ENST00000546190.1_Frame_Shift_Ins_p.G416fs	p.G1452fs	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			31	5175_5176	+		all_lung(197;0.212)	1452					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Frame_Shift_Ins	INS	ENST00000370598.1	37	c.4354_4355insG	CCDS4968.1																																																																																				0.386	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			10	20						10	20	---	---	---	---
MAS1	4142	broad.mit.edu	37	6	160328115	160328115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr6:160328115delC	ENST00000252660.4	+	1	142	c.128delC	c.(127-129)tccfs	p.S43fs		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	43					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		ATGAGCATCTCCCCAGTGGGG	0.522																																						ENST00000252660.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(127-129)tcfs		MAS1 oncogene							193.0	187.0	189.0					6																	160328115		2203	4300	6503	SO:0001589	frameshift_variant	4142				anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity	g.chr6:160328115delC	M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"""GPCR / Class A : Orphans"""	6899	protein-coding gene	gene with protein product		165180	"""MAS1 oncogene"""				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.128delC	6.37:g.160328115delC	ENSP00000252660:p.Ser43fs						p.S43fs	NM_002377.2	NP_002368.1	P04201	MAS_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)	1	142	+		Breast(66;0.000776)|Ovarian(120;0.0303)	43					E1P5B3|Q2TBC9|Q6FG47	Frame_Shift_Del	DEL	ENST00000252660.4	37	c.128delC	CCDS5272.1																																																																																				0.522	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042930.2	NM_002377		44	71						44	71	---	---	---	---
LOC440173	440173	broad.mit.edu	37	9	89626452	89626453	+	lincRNA	INS	-	-	T	rs539907679	byFrequency	TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr9:89626452_89626453insT	ENST00000602579.1	-	0	256					NR_027471.1																						tttgttttttgttttttgtttt	0.45													?|TTTTTT|TTTTTTT|unsure	5	0.000998403	0.0038	0.0	5008	,	,		15990	0.0		0.0	False		,,,				2504	0.0					ENST00000602579.1																			0																																																			440173							g.chr9:89626452_89626453insT																													9.37:g.89626458_89626458dupT								NR_027471.1						0	256	-									RNA	INS	ENST00000602579.1	37																																																																																						0.450	RP11-276H19.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000052931.2			4	7						4	7	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47342647	47342647	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr14:47342647delC	ENST00000399232.2	-	14	2898	c.2534delG	c.(2533-2535)ggafs	p.G845fs	MDGA2_ENST00000399222.3_Frame_Shift_Del_p.G47fs|MDGA2_ENST00000439988.3_Frame_Shift_Del_p.G914fs|MDGA2_ENST00000357362.3_Frame_Shift_Del_p.G616fs|MDGA2_ENST00000426342.1_Frame_Shift_Del_p.G616fs	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	845	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TATATGTTGTCCATACATGTG	0.343																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1846-1848)gafs		MAM domain containing glycosylphosphatidylinositol anchor 2							114.0	108.0	110.0					14																	47342647		1839	4084	5923	SO:0001589	frameshift_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47342647delC	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2534delG	14.37:g.47342647delC	ENSP00000382178:p.Gly845fs					MDGA2_ENST00000399232.2_Frame_Shift_Del_p.G914fs|MDGA2_ENST00000439988.2_Frame_Shift_Del_p.G845fs|MDGA2_ENST00000399222.3_Frame_Shift_Del_p.G47fs|MDGA2_ENST00000357362.3_Frame_Shift_Del_p.G616fs	p.G616fs	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			14	2593	-			845			Ig-like 6.		F6W3S7|J3KPX6	Frame_Shift_Del	DEL	ENST00000399232.2	37	c.1847delG																																																																																					0.343	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		37	21						37	21	---	---	---	---
LOC101927079	101927079	broad.mit.edu	37	15	22333261	22333261	+	RNA	DEL	C	C	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:22333261delC	ENST00000558896.1	+	0	583																											CTATGTTGAGCCCCCTCATCT	0.398																																						ENST00000558896.1																			0																																																			101927079							g.chr15:22333261delC																													15.37:g.22333261delC														0	583	+									RNA	DEL	ENST00000558896.1	37																																																																																						0.398	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			18	49						18	49	---	---	---	---
FAN1	22909	broad.mit.edu	37	15	31214472	31214473	+	Frame_Shift_Del	DEL	AG	AG	-	rs574197731		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:31214472_31214473delAG	ENST00000362065.4	+	8	2378_2379	c.2087_2088delAG	c.(2086-2088)cagfs	p.Q696fs	FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	696					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CTTTTGTCTCAGAGAATTTATT	0.426								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(2086-2088)cfs	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1																																				SO:0001589	frameshift_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31214472_31214473delAG		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2087_2088delAG	15.37:g.31214474_31214475delAG	ENSP00000354497:p.Gln696fs					FAN1_ENST00000568145.1_3'UTR	p.Q696fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			8	2378_2379	+			696					A8K4M2|Q86WU8	Frame_Shift_Del	DEL	ENST00000362065.4	37	c.2087_2088delAG	CCDS32186.1																																																																																				0.426	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		39	48						39	48	---	---	---	---
COPS2	9318	broad.mit.edu	37	15	49420932	49420946	+	In_Frame_Del	DEL	ACATCAGCTACATCT	ACATCAGCTACATCT	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr15:49420932_49420946delACATCAGCTACATCT	ENST00000388901.5	-	12	1213_1227	c.1140_1154delAGATGTAGCTGATGT	c.(1138-1155)atagatgtagctgatgtg>atg	p.380_385IDVADV>M	COPS2_ENST00000542928.1_In_Frame_Del_p.316_321IDVADV>M|COPS2_ENST00000299259.6_In_Frame_Del_p.387_392IDVADV>M	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	380	PCI.				cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CAAGCTCTCCACATCAGCTACATCTATGTTTAACT	0.284																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)	ENST00000388901.5																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18						c.(1138-1155)atg>at		COP9 signalosome subunit 2																																				SO:0001651	inframe_deletion	9318				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity	g.chr15:49420932_49420946delACATCAGCTACATCT	AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"""COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"""			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.1140_1154delAGATGTAGCTGATGT	15.37:g.49420932_49420946delACATCAGCTACATCT	ENSP00000373553:p.Ile380_Val385delinsMet					COPS2_ENST00000299259.6_In_Frame_Del_p.IDVADV387del|COPS2_ENST00000542928.1_In_Frame_Del_p.IDVADV316del	p.IDVADV380del	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)	12	1213_1227	-		all_lung(180;0.0428)	380			PCI.		O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	In_Frame_Del	DEL	ENST00000388901.5	37	c.1140_1154delAGATGTAGCTGATGT	CCDS32235.1																																																																																				0.284	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1	NM_004236		14	125						14	125	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		20	379						20	379	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22941167	22941167	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr19:22941167delC	ENST00000596209.1	-	4	1634	c.1544delG	c.(1543-1545)ggcfs	p.G515fs	ZNF99_ENST00000397104.3_Frame_Shift_Del_p.G424fs	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAAGCTTTGCCACATTCTTC	0.338																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1270-1272)gcfs		zinc finger protein 99							38.0	39.0	39.0					19																	22941167		2050	4212	6262	SO:0001589	frameshift_variant	7652							g.chr19:22941167delC	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1544delG	19.37:g.22941167delC	ENSP00000472969:p.Gly515fs					ZNF99_ENST00000596209.1_Frame_Shift_Del_p.G515fs	p.G424fs							5	1270	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Frame_Shift_Del	DEL	ENST00000596209.1	37	c.1271delG	CCDS59369.1																																																																																				0.338	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		29	33						29	33	---	---	---	---
TBC1D10A	83874	broad.mit.edu	37	22	30688801	30688803	+	In_Frame_Del	DEL	CGC	CGC	-	rs376106240|rs375338376		TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chr22:30688801_30688803delCGC	ENST00000215790.7	-	9	1252_1254	c.1088_1090delGCG	c.(1087-1092)cgcgaa>caa	p.363_364RE>Q	TBC1D10A_ENST00000403362.1_In_Frame_Del_p.275_276RE>Q|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_In_Frame_Del_p.370_371RE>Q	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	363					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						ATGAGGTGTTCGCGCTCAATCTG	0.635																																						ENST00000215790.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(1087-1092)caa>c		TBC1 domain family, member 10A																																				SO:0001651	inframe_deletion	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30688801_30688803delCGC	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.1088_1090delGCG	22.37:g.30688801_30688803delCGC	ENSP00000215790:p.Arg363_Glu364delinsGln					TBC1D10A_ENST00000403362.1_In_Frame_Del_p.RE275del|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_In_Frame_Del_p.RE370del	p.RE363del	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN			9	1252_1254	-			363					B3KXT8|O76053|Q20WK7|Q543A2	In_Frame_Del	DEL	ENST00000215790.7	37	c.1088_1090delGCG	CCDS13874.1																																																																																				0.635	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		24	12						24	12	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70468637	70468638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CR-7398-01A-11D-2012-08	TCGA-CR-7398-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12c391dc-3138-4e73-bdc7-b06512dd0fa7	b36e8d02-d1c2-4cfe-879f-05e2dd5e2032	g.chrX:70468637_70468638insG	ENST00000353904.2	-	9	1822_1823	c.1635_1636insC	c.(1633-1638)ccctgcfs	p.C546fs	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Frame_Shift_Ins_p.C548fs|ZMYM3_ENST00000373998.1_Frame_Shift_Ins_p.C546fs|ZMYM3_ENST00000314425.5_Frame_Shift_Ins_p.C546fs|ZMYM3_ENST00000373984.3_Frame_Shift_Ins_p.C548fs	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	546					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CAGAAGCTGCAGGGTCGGGGAG	0.559																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1633-1638)ccgcagfs		zinc finger, MYM-type 3																																				SO:0001589	frameshift_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70468637_70468638insG	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1636dupC	X.37:g.70468640_70468640dupG	ENSP00000343909:p.Cys546fs					ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Frame_Shift_Ins_p.Q546fs|ZMYM3_ENST00000373988.1_Frame_Shift_Ins_p.Q548fs|ZMYM3_ENST00000353904.2_Frame_Shift_Ins_p.Q546fs|ZMYM3_ENST00000373984.3_Frame_Shift_Ins_p.Q548fs	p.Q546fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			9	2332_2333	-	Renal(35;0.156)		546					D3DVV3|O15089|Q96E26	Frame_Shift_Ins	INS	ENST00000353904.2	37	c.1635_1636insC	CCDS14409.1																																																																																				0.559	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		7	12						7	12	---	---	---	---
