#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
KIAA0754	643314	broad.mit.edu	37	1	39878082	39878082	+	Silent	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:39878082T>C	ENST00000530275.1	+	1	1932	c.1737T>C	c.(1735-1737)tgT>tgC	p.C579C	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	579										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAAGTTTGTGATGAGGATG	0.423																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(1735-1737)tgT>tgC		KIAA0754							110.0	107.0	108.0					1																	39878082		1921	4136	6057	SO:0001819	synonymous_variant	643314							g.chr1:39878082T>C			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1737T>C	1.37:g.39878082T>C						MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron	p.C579C	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	1932	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	579					E9PMC2|Q6ZSB2	Silent	SNP	ENST00000530275.1	37	c.1737T>C																																																																																					0.423	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		6	38	0	0	0	0.021553	0	6	38				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000342960.5_Silent_p.L384L|NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		4	34	0	0	0	0.014758	0	4	34				
FBLN1	2192	broad.mit.edu	37	22	45929029	45929029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:45929029G>C	ENST00000327858.6	+	6	726	c.631G>C	c.(631-633)Ggt>Cgt	p.G211R	FBLN1_ENST00000340923.5_Missense_Mutation_p.G211R|FBLN1_ENST00000262722.7_Missense_Mutation_p.G211R|FBLN1_ENST00000348697.2_Missense_Mutation_p.G211R|FBLN1_ENST00000402984.3_Missense_Mutation_p.G249R|FBLN1_ENST00000442170.2_Missense_Mutation_p.G211R	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	211	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCTGTCTGATGGTGTCTCCTG	0.637																																						ENST00000348697.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.(631-633)Ggt>Cgt		fibulin 1							181.0	117.0	139.0					22																	45929029		2203	4300	6503	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45929029G>C		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.631G>C	22.37:g.45929029G>C	ENSP00000331544:p.Gly211Arg					FBLN1_ENST00000402984.3_Missense_Mutation_p.G249R|FBLN1_ENST00000442170.2_Missense_Mutation_p.G211R|FBLN1_ENST00000262722.7_Missense_Mutation_p.G211R|FBLN1_ENST00000340923.5_Missense_Mutation_p.G211R|FBLN1_ENST00000327858.6_Missense_Mutation_p.G211R	p.G211R			P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	6	778	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	211			EGF-like 1.		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.631G>C	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238485	0.79800	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923;ENST00000451475	T;T;T;T;T;T;T	0.75050	-0.9;1.4;1.4;1.4;1.4;1.4;-0.9	5.44	3.24	0.37175	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.350346	0.32703	N	0.005745	T	0.79919	0.4529	M	0.64630	1.985	0.48830	D	0.999718	D;P;P;D	0.61080	0.982;0.93;0.851;0.989	P;P;P;D	0.62955	0.813;0.559;0.646;0.909	T	0.76940	-0.2773	10	0.28530	T	0.3	.	10.5502	0.45083	0.0726:0.1336:0.7938:0.0	.	249;211;211;211	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	R	211;249;211;211;211;211;131	ENSP00000262723:G211R;ENSP00000385521:G249R;ENSP00000262722:G211R;ENSP00000331544:G211R;ENSP00000393812:G211R;ENSP00000342212:G211R;ENSP00000415160:G131R	ENSP00000262722:G211R	G	+	1	0	FBLN1	44307693	1.000000	0.71417	0.811000	0.32455	0.769000	0.43574	4.216000	0.58540	1.294000	0.44707	0.484000	0.47621	GGT		0.637	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		8	35	0	0	0	0.038147	0	8	35				
KLHL4	56062	broad.mit.edu	37	X	86877396	86877396	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chrX:86877396C>A	ENST00000373119.4	+	5	1255	c.1110C>A	c.(1108-1110)taC>taA	p.Y370*	KLHL4_ENST00000373114.4_Nonsense_Mutation_p.Y370*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	370						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						TGCTTTCTTACATCAGACTGC	0.413																																						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.(1108-1110)taC>taA		kelch-like family member 4							157.0	129.0	139.0					X																	86877396		2203	4300	6503	SO:0001587	stop_gained	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86877396C>A	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.1110C>A	X.37:g.86877396C>A	ENSP00000362211:p.Tyr370*					KLHL4_ENST00000373114.4_Nonsense_Mutation_p.Y370*	p.Y370*	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			5	1255	+			370					B2RTW2|Q9Y3J5	Nonsense_Mutation	SNP	ENST00000373119.4	37	c.1110C>A	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.851664	0.91355	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	.	.	.	5.24	-3.55	0.04639	.	0.284143	0.35291	N	0.003303	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	8.7108	0.34382	0.0984:0.4294:0.0:0.4723	.	.	.	.	X	370	.	ENSP00000362206:Y370X	Y	+	3	2	KLHL4	86764052	0.996000	0.38824	0.959000	0.39883	0.847000	0.48162	0.476000	0.22180	-0.774000	0.04590	-0.422000	0.05995	TAC		0.413	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			10	34	1	0	0.00010058	0.093190	0.000106923	10	34				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	44	0	0	0	0.009096	0	3	44				
ELN	2006	broad.mit.edu	37	7	73474268	73474268	+	Silent	SNP	C	C	T	rs200512332		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:73474268C>T	ENST00000252034.7	+	23	1866	c.1467C>T	c.(1465-1467)gtC>gtT	p.V489V	CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000380584.4_Silent_p.V456V|ELN_ENST00000320492.7_Silent_p.V408V|ELN_ENST00000429192.1_Silent_p.V475V|ELN_ENST00000458204.1_Silent_p.V479V|ELN_ENST00000357036.5_Silent_p.V494V|ELN_ENST00000445912.1_Silent_p.V489V|ELN_ENST00000414324.1_Silent_p.V465V|ELN_ENST00000358929.4_Silent_p.V524V|ELN_ENST00000380576.5_Silent_p.V470V|ELN_ENST00000320399.6_Silent_p.V489V|ELN_ENST00000380562.4_Silent_p.V495V|ELN_ENST00000380553.4_Silent_p.V353V|ELN_ENST00000380575.4_Silent_p.V460V	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CTCCTGGTGTCGGTGTGGCTC	0.602			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						C|||	1	0.000199681	0.0	0.0	5008	,	,		13578	0.0		0.0	False		,,,				2504	0.001					ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1465-1467)gtC>gtT		elastin	Rofecoxib(DB00533)						217.0	204.0	209.0					7																	73474268		2203	4300	6503	SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474268C>T		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1467C>T	7.37:g.73474268C>T						ELN_ENST00000380562.4_Silent_p.V495V|ELN_ENST00000380575.4_Silent_p.V460V|ELN_ENST00000458204.1_Silent_p.V479V|ELN_ENST00000445912.1_Silent_p.V489V|ELN_ENST00000380576.5_Silent_p.V470V|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.V475V|ELN_ENST00000414324.1_Silent_p.V465V|ELN_ENST00000380553.4_Silent_p.V353V|ELN_ENST00000380584.4_Silent_p.V456V|ELN_ENST00000358929.4_Silent_p.V524V|ELN_ENST00000357036.5_Silent_p.V494V|ELN_ENST00000320399.6_Silent_p.V489V|ELN_ENST00000320492.7_Silent_p.V408V	p.V489V	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			23	1866	+		Lung NSC(55;0.159)	518			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	c.1467C>T	CCDS5562.2																																																																																				0.602	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		15	174	0	0	0	0.041601	0	15	174				
SI	6476	broad.mit.edu	37	3	164725717	164725717	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:164725717A>G	ENST00000264382.3	-	36	4311	c.4249T>C	c.(4249-4251)Tat>Cat	p.Y1417H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1417	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)	TAAGGTGGATAATTTAGTTCG	0.264										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.(4249-4251)Tat>Cat		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						152.0	156.0	155.0					3																	164725717		2202	4293	6495	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.chr3:164725717A>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.4249T>C	3.37:g.164725717A>G	ENSP00000264382:p.Tyr1417His	HNSCC(35;0.089)					p.Y1417H	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			36	4311	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1417			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4249T>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	1.486	-0.555897	0.03967	.	.	ENSG00000090402	ENST00000264382	D	0.88586	-2.4	4.92	2.27	0.28462	Glycoside hydrolase, superfamily (1);	0.905653	0.09351	N	0.814071	T	0.79644	0.4481	L	0.28608	0.87	0.22185	N	0.999304	B	0.02656	0.0	B	0.10450	0.005	T	0.62324	-0.6878	10	0.14656	T	0.56	.	5.2096	0.15308	0.7251:0.0:0.0853:0.1896	.	1417	P14410	SUIS_HUMAN	H	1417	ENSP00000264382:Y1417H	ENSP00000264382:Y1417H	Y	-	1	0	SI	166208411	0.028000	0.19301	0.549000	0.28204	0.597000	0.36814	0.813000	0.27225	0.769000	0.33313	0.477000	0.44152	TAT		0.264	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		8	75	0	0	0	0.069234	0	8	75				
FMN2	56776	broad.mit.edu	37	1	240492666	240492666	+	Silent	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:240492666C>A	ENST00000319653.9	+	10	4565	c.4335C>A	c.(4333-4335)ccC>ccA	p.P1445P	FMN2_ENST00000545751.1_Silent_p.P41P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1445	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACTAATCCCCAACTTTTCAG	0.363																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(4333-4335)ccC>ccA		formin 2							163.0	152.0	155.0					1																	240492666		2203	4300	6503	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240492666C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4335C>A	1.37:g.240492666C>A						FMN2_ENST00000545751.1_Silent_p.P41P	p.P1445P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		10	4565	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1445			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.4335C>A	CCDS31069.2																																																																																				0.363	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		11	87	1	0	0.000673444	0.069234	0.000709521	11	87				
SOGA3	387104	broad.mit.edu	37	6	127796911	127796911	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:127796911C>T	ENST00000525778.1	-	6	3005	c.2260G>A	c.(2260-2262)Gag>Aag	p.E754K	SOGA3_ENST00000368268.2_Missense_Mutation_p.E754K|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Missense_Mutation_p.E754K|SOGA3_ENST00000556132.1_Missense_Mutation_p.E754K|SOGA3_ENST00000465909.2_Missense_Mutation_p.E754K			Q5TF21	SOGA3_HUMAN	SOGA family member 3	754					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GCGTCGCTCTCGGCGTCGCTG	0.701																																						ENST00000556132.1																			0											c.(2260-2262)Gag>Aag		SOGA family member 3							41.0	48.0	46.0					6																	127796911		2128	4236	6364	SO:0001583	missense	387104					integral to membrane		g.chr6:127796911C>T	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2260G>A	6.37:g.127796911C>T	ENSP00000434570:p.Glu754Lys					SOGA3_ENST00000465909.2_Missense_Mutation_p.E754K|SOGA3_ENST00000481848.2_Missense_Mutation_p.E754K|SOGA3_ENST00000368268.2_Missense_Mutation_p.E754K|SOGA3_ENST00000525778.1_Missense_Mutation_p.E754K	p.E754K	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	3124	-			754						Missense_Mutation	SNP	ENST00000525778.1	37	c.2260G>A	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	34	5.370387	0.95900	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.27663	0.0680	M	0.66939	2.045	0.80722	D	1	P	0.43287	0.802	B	0.40741	0.339	T	0.15093	-1.0449	10	0.56958	D	0.05	-23.7321	18.91	0.92479	0.0:1.0:0.0:0.0	.	754	Q5TF21	CF174_HUMAN	K	754	ENSP00000451768:E754K;ENSP00000357251:E754K;ENSP00000434570:E754K;ENSP00000435559:E754K	ENSP00000435559:E754K	E	-	1	0	C6orf174	127838604	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.614000	0.82996	2.476000	0.83614	0.462000	0.41574	GAG		0.701	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		11	83	0	0	0	0.093190	0	11	83				
SETD9	133383	broad.mit.edu	37	5	56207180	56207180	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:56207180C>A	ENST00000285947.2	+	2	669	c.283C>A	c.(283-285)Caa>Aaa	p.Q95K	SETD9_ENST00000475908.1_3'UTR|SETD9_ENST00000541720.1_Missense_Mutation_p.Q95K|AC008937.3_ENST00000453721.1_RNA	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	95							methyltransferase activity (GO:0008168)										AGTTGAACATCAAGGGGTGAA	0.363																																						ENST00000285947.2																			0											c.(283-285)Caa>Aaa		SET domain containing 9							59.0	57.0	57.0					5																	56207180		2203	4300	6503	SO:0001583	missense	133383							g.chr5:56207180C>A	BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 35"""	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.283C>A	5.37:g.56207180C>A	ENSP00000285947:p.Gln95Lys					SETD9_ENST00000541720.1_Missense_Mutation_p.Q95K|SETD9_ENST00000475908.1_3'UTR	p.Q95K	NM_153706.3	NP_714917.2	Q8NE22	CE035_HUMAN			2	669	+			95					F5H713	Missense_Mutation	SNP	ENST00000285947.2	37	c.283C>A	CCDS3972.1	.	.	.	.	.	.	.	.	.	.	C	1.126	-0.653983	0.03480	.	.	ENSG00000155542	ENST00000285947;ENST00000541720	T;T	0.28895	1.59;1.59	5.57	5.57	0.84162	.	0.596788	0.18142	N	0.150393	T	0.19446	0.0467	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26018	-1.0115	10	0.05959	T	0.93	-9.4778	10.9804	0.47490	0.2003:0.6784:0.1212:0.0	.	95	Q8NE22	CE035_HUMAN	K	95	ENSP00000285947:Q95K;ENSP00000442886:Q95K	ENSP00000285947:Q95K	Q	+	1	0	C5orf35	56242937	0.000000	0.05858	0.663000	0.29738	0.836000	0.47400	0.514000	0.22786	2.640000	0.89533	0.655000	0.94253	CAA		0.363	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132304.2	NM_153706		22	20	1	0	3.10358e-05	0.069288	3.3293e-05	22	20				
MUC17	140453	broad.mit.edu	37	7	100678877	100678877	+	Nonsense_Mutation	SNP	G	G	T	rs71286279		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:100678877G>T	ENST00000306151.4	+	3	4244	c.4180G>T	c.(4180-4182)Gga>Tga	p.G1394*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1394	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTAGTGAAGGAACCACTCC	0.507																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4180-4182)Gga>Tga		mucin 17, cell surface associated							259.0	264.0	262.0					7																	100678877		2203	4300	6503	SO:0001587	stop_gained	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678877G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4180G>T	7.37:g.100678877G>T	ENSP00000302716:p.Gly1394*						p.G1394*	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4244	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1394			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	ENST00000306151.4	37	c.4180G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	39	7.523234	0.98335	.	.	ENSG00000169876	ENST00000306151	.	.	.	0.838	0.838	0.18902	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	5.1494	0.15002	0.0:0.0:1.0:0.0	.	.	.	.	X	1394	.	ENSP00000302716:G1394X	G	+	1	0	MUC17	100465597	0.000000	0.05858	0.003000	0.11579	0.021000	0.10359	-0.665000	0.05286	0.790000	0.33803	0.134000	0.15878	GGA		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		91	272	1	0	4.21773e-46	0.048971	4.83197e-46	91	272				
CGNL1	84952	broad.mit.edu	37	15	57730854	57730854	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:57730854C>T	ENST00000281282.5	+	2	735	c.657C>T	c.(655-657)tgC>tgT	p.C219C		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	219	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TTCGTTTATGCAGCTCCGTGG	0.527																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(655-657)tgC>tgT		cingulin-like 1							122.0	122.0	122.0					15																	57730854		2192	4292	6484	SO:0001819	synonymous_variant	84952					myosin complex|tight junction	motor activity	g.chr15:57730854C>T	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.657C>T	15.37:g.57730854C>T							p.C219C	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	735	+			219			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	ENST00000281282.5	37	c.657C>T	CCDS10161.1																																																																																				0.527	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		18	128	0	0	0	0.049695	0	18	128				
NFRKB	4798	broad.mit.edu	37	11	129748208	129748208	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:129748208G>A	ENST00000446488.3	-	14	1610	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	NFRKB_ENST00000524746.1_Missense_Mutation_p.R503W|NFRKB_ENST00000524794.1_Missense_Mutation_p.R528W|NFRKB_ENST00000304521.5_Missense_Mutation_p.R503W	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	503					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		ACTCACACCCGAGGGACAGGT	0.433																																						ENST00000446488.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(1507-1509)Cgg>Tgg		nuclear factor related to kappaB binding protein							108.0	107.0	107.0					11																	129748208		2201	4297	6498	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129748208G>A		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.1507C>T	11.37:g.129748208G>A	ENSP00000400476:p.Arg503Trp					NFRKB_ENST00000524794.1_Missense_Mutation_p.R528W|NFRKB_ENST00000524746.1_Missense_Mutation_p.R503W|NFRKB_ENST00000304521.5_Missense_Mutation_p.R503W	p.R503W	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	14	1610	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	503					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.1507C>T	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324010	0.60634	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746	.	.	.	5.65	5.65	0.86999	.	0.107177	0.64402	D	0.000009	T	0.77191	0.4094	M	0.69823	2.125	0.46631	D	0.999135	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.948;0.984;0.977	T	0.79196	-0.1903	9	0.87932	D	0	.	13.8229	0.63333	0.0:0.0:0.8378:0.1622	.	503;503;528	Q6P4R8;Q6P4R8-3;Q6P4R8-2	NFRKB_HUMAN;.;.	W	503;503;528;503	.	ENSP00000303800:R503W	R	-	1	2	NFRKB	129253418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.592000	0.53993	2.652000	0.90054	0.650000	0.86243	CGG		0.433	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		19	20	0	0	0	0.062417	0	19	20				
ACTL6B	51412	broad.mit.edu	37	7	100246281	100246281	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:100246281G>A	ENST00000160382.5	-	7	673	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	189					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGACTTGACGATGCCTAGAA	0.597																																						ENST00000160382.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13						c.(565-567)atC>atT		actin-like 6B							75.0	66.0	69.0					7																	100246281		2203	4300	6503	SO:0001819	synonymous_variant	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100246281G>A	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.567C>T	7.37:g.100246281G>A							p.I189I	NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN			7	673	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		189					A4D2D0|O75421	Silent	SNP	ENST00000160382.5	37	c.567C>T	CCDS5702.1																																																																																				0.597	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		9	13	0	0	0	0.058154	0	9	13				
TP53	7157	broad.mit.edu	37	17	7574012	7574012	+	Nonsense_Mutation	SNP	C	C	A	rs17882252	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr17:7574012C>A	ENST00000269305.4	-	10	1204	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.E339*|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_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	339	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		E -> K (in a sporadic cancer; somatic mutation; dbSNP:rs17882252). {ECO:0000269|Ref.12}.|E -> Q (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E339*(14)|p.0?(8)|p.E339fs*8(2)|p.E339Q(1)|p.?(1)|p.F338fs*6(1)|p.F338_E339>L(1)|p.E339fs*13(1)|p.I332fs*5(1)|p.E339K(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)	CGGAACATCTCGAAGCGCTCA	0.537		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"""		31	Substitution - Nonsense(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(2)	p.E339*(14)|p.0?(8)|p.E339fs*8(2)|p.E339Q(1)|p.?(1)|p.F338fs*6(1)|p.F338_E339>L(1)|p.E339fs*13(1)|p.I332fs*5(1)|p.E339K(1)	upper_aerodigestive_tract(5)|breast(5)|liver(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|pancreas(2)|stomach(1)|oesophagus(1)|ovary(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	CM984588	TP53	M	rs17882252	c.(1015-1017)Gag>Tag	Other conserved DNA damage response genes	tumor protein p53							59.0	46.0	51.0					17																	7574012		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574012C>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.1015G>T	17.37:g.7574012C>A	ENSP00000269305:p.Glu339*	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_ENST00000445888.2_Nonsense_Mutation_p.E339*|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron	p.E339*	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	1204	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	339		E -> K (in a sporadic cancer; somatic mutation; dbSNP:rs17882252).|E -> Q (in a sporadic cancer; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1015G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	35	5.547605	0.96488	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	4.44	0.53790	.	0.053822	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-17.4901	10.1064	0.42535	0.0:0.8944:0.0:0.1056	.	.	.	.	X	339;339;328	.	ENSP00000269305:E339X	E	-	1	0	TP53	7514737	0.991000	0.36638	0.794000	0.32065	0.424000	0.31475	2.924000	0.48876	1.194000	0.43101	0.561000	0.74099	GAG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	10	1	0	0.014758	0.014758	0.015411	5	10				
RSBN1	54665	broad.mit.edu	37	1	114354936	114354936	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:114354936C>T	ENST00000261441.5	-	1	162	c.99G>A	c.(97-99)gcG>gcA	p.A33A	RP5-1073O3.2_ENST00000418238.1_RNA|RP5-1073O3.2_ENST00000429398.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	33						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCCCCCGTCCGCGCATCGCG	0.672																																						ENST00000261441.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(97-99)gcG>gcA		round spermatid basic protein 1							23.0	32.0	29.0					1																	114354936		2198	4293	6491	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114354936C>T	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.99G>A	1.37:g.114354936C>T							p.A33A	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	162	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	33					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.99G>A	CCDS862.1																																																																																				0.672	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		4	53	0	0	0	0.014758	0	4	53				
ZNF423	23090	broad.mit.edu	37	16	49672378	49672378	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr16:49672378G>A	ENST00000561648.1	-	4	738	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	ZNF423_ENST00000567169.1_Missense_Mutation_p.R112C|ZNF423_ENST00000535559.1_Missense_Mutation_p.R112C|ZNF423_ENST00000562871.1_Missense_Mutation_p.R169C|ZNF423_ENST00000563137.2_Missense_Mutation_p.R169C|ZNF423_ENST00000562520.1_Missense_Mutation_p.R169C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R229C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	229					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GAGAAGCCGCGCTTGCACACA	0.597																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(685-687)Cgc>Tgc		zinc finger protein 423							65.0	49.0	55.0					16																	49672378		2198	4298	6496	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672378G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.685C>T	16.37:g.49672378G>A	ENSP00000455426:p.Arg229Cys					ZNF423_ENST00000563137.2_Missense_Mutation_p.R169C|ZNF423_ENST00000535559.1_Missense_Mutation_p.R112C|ZNF423_ENST00000562520.1_Missense_Mutation_p.R169C|ZNF423_ENST00000567169.1_Missense_Mutation_p.R112C|ZNF423_ENST00000562871.1_Missense_Mutation_p.R169C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R229C	p.R229C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	738	-		all_cancers(37;0.0155)	229					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.685C>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089046	0.55968	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.19806	2.12;2.12	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.47507	0.1449	M	0.72576	2.205	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.43114	-0.9411	9	.	.	.	.	18.3069	0.90185	0.0:0.0:1.0:0.0	.	229	Q2M1K9	ZN423_HUMAN	C	229;112	ENSP00000262383:R229C;ENSP00000442321:R112C	.	R	-	1	0	ZNF423	48229879	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.497000	0.73674	2.331000	0.79229	0.561000	0.74099	CGC		0.597	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		6	46	0	0	0	0.021553	0	6	46				
PIPSL	266971	broad.mit.edu	37	10	95718642	95718642	+	RNA	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr10:95718642G>A	ENST00000480546.1	-	0	2655					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										ACAGCATTTCGAATGGCTTCA	0.537																																						ENST00000480546.1																			0																																																			266971							g.chr10:95718642G>A	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95718642G>A								NR_002319.2						0	2655	-								Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																						0.537	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		9	36	0	0	0	0.047766	0	9	36				
CHST15	51363	broad.mit.edu	37	10	125804104	125804104	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr10:125804104T>C	ENST00000346248.5	-	3	1520	c.878A>G	c.(877-879)aAg>aGg	p.K293R	CHST15_ENST00000435907.1_Missense_Mutation_p.K293R|CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000421115.1_Missense_Mutation_p.K293R	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	293					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						ACCAAAGCGCTTCCGGGTCCA	0.637																																						ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(877-879)aAg>aGg		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15							27.0	29.0	29.0					10																	125804104		2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125804104T>C	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.878A>G	10.37:g.125804104T>C	ENSP00000333947:p.Lys293Arg					CHST15_ENST00000421115.1_Missense_Mutation_p.K293R|CHST15_ENST00000435907.1_Missense_Mutation_p.K293R	p.K293R	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			3	1520	-			293					O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.878A>G	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.212682	0.79240	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	T;T;T	0.54675	0.56;0.56;0.56	5.65	4.51	0.55191	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.60405	0.2266	L	0.40543	1.245	0.47245	D	0.999365	D;P	0.76494	0.999;0.704	D;B	0.71414	0.973;0.404	T	0.58405	-0.7642	10	0.44086	T	0.13	-25.0992	10.3011	0.43653	0.0:0.0746:0.0:0.9254	.	293;293	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	R	293	ENSP00000333947:K293R;ENSP00000402394:K293R;ENSP00000412477:K293R	ENSP00000333947:K293R	K	-	2	0	CHST15	125794094	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	7.707000	0.84623	0.962000	0.38057	0.533000	0.62120	AAG		0.637	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		7	12	0	0	0	0.029380	0	7	12				
SLC34A1	6569	broad.mit.edu	37	5	176824887	176824887	+	Missense_Mutation	SNP	G	G	A	rs200137299		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:176824887G>A	ENST00000324417.5	+	13	1611	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	507					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CTGGGGAAACGCACGGCCAAG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17541	0.0		0.0	False		,,,				2504	0.0					ENST00000324417.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1519-1521)cGc>cAc		solute carrier family 34 (type II sodium/phosphate contransporter), member 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	131.0	108.0	116.0		1520	4.3	0.9	5		116	0,8600		0,0,4300	no	missense	SLC34A1	NM_003052.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	507/640	176824887	1,13005	2203	4300	6503	SO:0001583	missense	6569				phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr5:176824887G>A	L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1520G>A	5.37:g.176824887G>A	ENSP00000321424:p.Arg507His					SLC34A1_ENST00000513614.1_3'UTR	p.R507H	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1611	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	507					B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	c.1520G>A	CCDS4418.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	5.431	0.264725	0.10294	2.27E-4	0.0	ENSG00000131183	ENST00000324417	T	0.31769	1.48	5.22	4.33	0.51752	.	0.178871	0.48286	D	0.000194	T	0.25419	0.0618	L	0.49126	1.545	0.36431	D	0.864928	B	0.21688	0.059	B	0.11329	0.006	T	0.17198	-1.0377	10	0.39692	T	0.17	-14.7229	7.4012	0.26965	0.0766:0.0:0.6236:0.2998	.	507	Q06495	NPT2A_HUMAN	H	507	ENSP00000321424:R507H	ENSP00000321424:R507H	R	+	2	0	SLC34A1	176757493	0.986000	0.35501	0.909000	0.35828	0.163000	0.22366	3.109000	0.50345	1.148000	0.42385	0.305000	0.20034	CGC		0.607	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1	NM_003052		16	63	0	0	0	0.033300	0	16	63				
ZC3H3	23144	broad.mit.edu	37	8	144589967	144589967	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:144589967G>C	ENST00000262577.5	-	4	1695	c.1664C>G	c.(1663-1665)cCc>cGc	p.P555R		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	555					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CAGGGGGAAGGGCGGGGCGCT	0.667																																						ENST00000262577.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1663-1665)cCc>cGc		zinc finger CCCH-type containing 3							49.0	57.0	54.0					8																	144589967		2202	4300	6502	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144589967G>C	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.1664C>G	8.37:g.144589967G>C	ENSP00000262577:p.Pro555Arg						p.P555R	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		4	1695	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		555					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.1664C>G	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	G	13.29	2.193264	0.38707	.	.	ENSG00000014164	ENST00000262577;ENST00000528401	T	0.03441	3.93	5.73	2.78	0.32641	.	1.149070	0.06425	N	0.723100	T	0.03136	0.0092	N	0.14661	0.345	0.09310	N	1	B	0.24823	0.112	B	0.19148	0.024	T	0.48927	-0.8991	10	0.38643	T	0.18	-7.6458	9.1621	0.37030	0.0:0.1294:0.5605:0.3101	.	555	Q8IXZ2	ZC3H3_HUMAN	R	555;15	ENSP00000262577:P555R	ENSP00000262577:P555R	P	-	2	0	ZC3H3	144661110	0.001000	0.12720	0.000000	0.03702	0.469000	0.32828	0.969000	0.29370	0.230000	0.21059	0.563000	0.77884	CCC		0.667	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		32	45	0	0	0	0.045705	0	32	45				
EVI5	7813	broad.mit.edu	37	1	93167729	93167729	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:93167729C>T	ENST00000370331.1	-	5	749	c.740G>A	c.(739-741)aGt>aAt	p.S247N	EVI5_ENST00000543509.1_Missense_Mutation_p.S247N|EVI5_ENST00000540033.1_Missense_Mutation_p.S247N|RNU4-59P_ENST00000364447.1_RNA	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	247	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TATAAAAGCACTTCCTTGACA	0.308																																						ENST00000370331.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38						c.(739-741)aGt>aAt		ecotropic viral integration site 5							77.0	72.0	74.0					1																	93167729		2203	4299	6502	SO:0001583	missense	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93167729C>T	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.740G>A	1.37:g.93167729C>T	ENSP00000359356:p.Ser247Asn					EVI5_ENST00000540033.1_Missense_Mutation_p.S247N|EVI5_ENST00000543509.1_Missense_Mutation_p.S247N	p.S247N	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	5	749	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	247			Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC.		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	c.740G>A	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373381	0.82573	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.11277	2.79;2.79;2.79	5.61	5.61	0.85477	Rab-GAP/TBC domain (4);	0.074260	0.85682	D	0.000000	T	0.23688	0.0573	M	0.69248	2.105	0.80722	D	1	D;D	0.55605	0.966;0.972	P;P	0.61592	0.825;0.891	T	0.00583	-1.1659	10	0.87932	D	0	-11.0731	19.6275	0.95684	0.0:1.0:0.0:0.0	.	247;247	F5H4R0;O60447	.;EVI5_HUMAN	N	247	ENSP00000359356:S247N;ENSP00000440826:S247N;ENSP00000445019:S247N	ENSP00000359356:S247N	S	-	2	0	EVI5	92940317	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.711000	0.84669	2.654000	0.90174	0.650000	0.86243	AGT		0.308	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		8	34	0	0	0	0.058154	0	8	34				
NID1	4811	broad.mit.edu	37	1	236180536	236180536	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:236180536C>T	ENST00000264187.6	-	10	2248	c.2166G>A	c.(2164-2166)ggG>ggA	p.G722G	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	722	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	TTGTGTGGCTCCCACACACTG	0.433																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(2164-2166)ggG>ggA		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						173.0	160.0	165.0					1																	236180536		2203	4300	6503	SO:0001819	synonymous_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236180536C>T	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2166G>A	1.37:g.236180536C>T						NID1_ENST00000366595.3_Intron	p.G722G	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		10	2248	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	722			EGF-like 3; calcium-binding (Potential).		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	c.2166G>A	CCDS1608.1																																																																																				0.433	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		18	93	0	0	0	0.043863	0	18	93				
SCN2A	6326	broad.mit.edu	37	2	166152455	166152455	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:166152455G>A	ENST00000375437.2	+	2	412	c.122G>A	c.(121-123)cGc>cAc	p.R41H	SCN2A_ENST00000375427.2_Missense_Mutation_p.R41H|SCN2A_ENST00000283256.6_Missense_Mutation_p.R41H|SCN2A_ENST00000357398.3_Missense_Mutation_p.R41H	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	41					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAACAGGAACGCAAGGATGAG	0.473																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(121-123)cGc>cAc		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						102.0	91.0	95.0					2																	166152455		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166152455G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.122G>A	2.37:g.166152455G>A	ENSP00000364586:p.Arg41His					SCN2A_ENST00000283256.6_Missense_Mutation_p.R41H|SCN2A_ENST00000375427.2_Missense_Mutation_p.R41H|SCN2A_ENST00000357398.3_Missense_Mutation_p.R41H	p.R41H	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			2	412	+			41					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.122G>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244912	0.22796	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.96300	-3.97;-3.89;-3.89;-3.89;-3.89	5.55	5.55	0.83447	.	1.061420	0.07361	N	0.884086	D	0.91399	0.7286	N	0.11106	0.095	0.44067	D	0.99681	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.0	T	0.77968	-0.2388	10	0.23302	T	0.38	.	12.797	0.57564	0.0744:0.0:0.9256:0.0	.	41;41	Q99250-2;Q99250	.;SCN2A_HUMAN	H	41	ENSP00000406454:R41H;ENSP00000364586:R41H;ENSP00000349973:R41H;ENSP00000283256:R41H;ENSP00000364576:R41H	ENSP00000283256:R41H	R	+	2	0	SCN2A	165860701	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.560000	0.53763	2.619000	0.88677	0.655000	0.94253	CGC		0.473	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		9	19	0	0	0	0.069234	0	9	19				
UBL7	84993	broad.mit.edu	37	15	74740855	74740855	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:74740855C>T	ENST00000567435.1	-	10	1432	c.969G>A	c.(967-969)caG>caA	p.Q323Q	UBL7_ENST00000565335.1_Silent_p.Q323Q|UBL7_ENST00000564488.1_Silent_p.Q323Q|UBL7_ENST00000361351.4_Silent_p.Q323Q|UBL7_ENST00000395081.2_Silent_p.Q323Q			Q96S82	UBL7_HUMAN	ubiquitin-like 7	323										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GAAGGGCATGCTGTAGGGCTT	0.542																																						ENST00000567435.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(967-969)caG>caA		ubiquitin-like 7 (bone marrow stromal cell-derived)							227.0	207.0	214.0					15																	74740855		2197	4296	6493	SO:0001819	synonymous_variant	84993						protein binding	g.chr15:74740855C>T	BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived ubiquitin-like"", "" ubiquitin-like protein SB132"""	609748	"""ubiquitin-like 7 (bone marrow stromal cell-derived)"""			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.969G>A	15.37:g.74740855C>T						UBL7_ENST00000395081.2_Silent_p.Q323Q|UBL7_ENST00000361351.4_Silent_p.Q323Q|UBL7_ENST00000564488.1_Silent_p.Q323Q|UBL7_ENST00000565335.1_Silent_p.Q323Q	p.Q323Q			Q96S82	UBL7_HUMAN			10	1432	-			323					D3DW57|Q96I03	Silent	SNP	ENST00000567435.1	37	c.969G>A	CCDS10263.1																																																																																				0.542	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	NM_032907, NM_201265		23	106	0	0	0	0.062417	0	23	106				
DGKK	139189	broad.mit.edu	37	X	50119144	50119144	+	RNA	SNP	A	A	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chrX:50119144A>T	ENST00000376025.2	-	0	3351							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATGCTGGTGGATCTTGCTCAG	0.478																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							68.0	64.0	65.0					X																	50119144		2017	4164	6181			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50119144A>T	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50119144A>T										Q5KSL6	DGKK_HUMAN			0	3351	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.478	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		6	4	0	0	0	0.029380	0	6	4				
PHLDA2	7262	broad.mit.edu	37	11	2950579	2950579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:2950579C>T	ENST00000314222.4	-	1	106	c.16G>A	c.(16-18)Gag>Aag	p.E6K		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	6					apoptotic process (GO:0006915)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|regulation of gene expression (GO:0010468)|regulation of glycogen metabolic process (GO:0070873)	cytoplasm (GO:0005737)|membrane (GO:0016020)				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGTAGCACCTCGTCGGGGGAT	0.677																																						ENST00000314222.4																			0				central_nervous_system(1)	1						c.(16-18)Gag>Aag		pleckstrin homology-like domain, family A, member 2							12.0	14.0	13.0					11																	2950579		2196	4281	6477	SO:0001583	missense	7262				apoptosis	cytoplasm|membrane		g.chr11:2950579C>T	AF035444	CCDS7741.1	11p15.4	2013-01-10	2003-09-26	2003-10-01	ENSG00000181649	ENSG00000181649		"""Pleckstrin homology (PH) domain containing"""	12385	protein-coding gene	gene with protein product		602131	"""tumor suppressing subtransferable candidate 3"""	TSSC3		9328465, 9403053	Standard	NM_003311		Approved	IPL, BWR1C, HLDA2	uc001lxa.1	Q53GA4	OTTHUMG00000010926	ENST00000314222.4:c.16G>A	11.37:g.2950579C>T	ENSP00000319231:p.Glu6Lys						p.E6K	NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	106	-		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)	6					O00496	Missense_Mutation	SNP	ENST00000314222.4	37	c.16G>A	CCDS7741.1	.	.	.	.	.	.	.	.	.	.	C	8.230	0.804463	0.16467	.	.	ENSG00000181649	ENST00000314222	T	0.39229	1.09	3.51	3.51	0.40186	Pleckstrin homology-type (1);	0.331812	0.27016	U	0.021360	T	0.21509	0.0518	L	0.34521	1.04	0.30131	N	0.804803	P	0.42692	0.787	B	0.32583	0.148	T	0.12967	-1.0527	10	0.07175	T	0.84	-12.9824	8.4901	0.33095	0.0:0.8887:0.0:0.1113	.	6	Q53GA4	PHLA2_HUMAN	K	6	ENSP00000319231:E6K	ENSP00000319231:E6K	E	-	1	0	PHLDA2	2907155	.	.	0.685000	0.30070	0.599000	0.36880	.	.	1.660000	0.50760	0.313000	0.20887	GAG		0.677	PHLDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030116.1	NM_003311		10	8	0	0	0	0.069234	0	10	8				
PKD1	5310	broad.mit.edu	37	16	2158547	2158547	+	Silent	SNP	G	G	A	rs575553075		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr16:2158547G>A	ENST00000262304.4	-	15	6829	c.6621C>T	c.(6619-6621)ccC>ccT	p.P2207P	PKD1_ENST00000423118.1_Silent_p.P2207P|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2207	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGTCCACGCCGGGCAGGGCCA	0.697																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(6619-6621)ccC>ccT		polycystic kidney disease 1 (autosomal dominant)							11.0	12.0	12.0					16																	2158547		2150	4234	6384	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2158547G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6621C>T	16.37:g.2158547G>A						PKD1_ENST00000423118.1_Silent_p.P2207P	p.P2207P	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	6829	-			2207			REJ.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.6621C>T	CCDS32369.1																																																																																				0.697	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	11	0	0	0	0.009096	0	4	11				
RBBP7	5931	broad.mit.edu	37	X	16887237	16887237	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chrX:16887237C>G	ENST00000380087.2	-	2	483	c.123G>C	c.(121-123)tgG>tgC	p.W41C	RBBP7_ENST00000380084.4_Missense_Mutation_p.W85C|RBBP7_ENST00000404022.1_Missense_Mutation_p.W41C			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	41					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TAAGACTGGGCCACTGAAGAG	0.393																																						ENST00000380087.2																			0				biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25						c.(121-123)tgG>tgC		retinoblastoma binding protein 7							122.0	106.0	111.0					X																	16887237		2203	4300	6503	SO:0001583	missense	5931				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	g.chrX:16887237C>G	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.123G>C	X.37:g.16887237C>G	ENSP00000369427:p.Trp41Cys					RBBP7_ENST00000380084.4_Missense_Mutation_p.W85C|RBBP7_ENST00000404022.1_Missense_Mutation_p.W41C	p.W41C			Q16576	RBBP7_HUMAN			2	483	-	Hepatocellular(33;0.0997)		41					Q5JP00	Missense_Mutation	SNP	ENST00000380087.2	37	c.123G>C	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431871	0.83776	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000468092	T;D;T	0.83075	-1.36;-1.68;-1.38	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.94447	0.8213	H	0.98370	4.215	0.80722	D	1	P;D;D	0.61697	0.911;0.968;0.99	P;P;D	0.63957	0.887;0.887;0.92	D	0.96480	0.9355	10	0.66056	D	0.02	-24.198	16.8394	0.85964	0.0:1.0:0.0:0.0	.	41;41;85	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	C	41;85;41;7	ENSP00000369427:W41C;ENSP00000369424:W85C;ENSP00000386068:W41C	ENSP00000369424:W85C	W	-	3	0	RBBP7	16797158	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.287000	0.76781	0.594000	0.82650	TGG		0.393	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893		10	27	0	0	0	0.069234	0	10	27				
LILRA1	11024	broad.mit.edu	37	19	55106360	55106360	+	Missense_Mutation	SNP	G	G	A	rs201715627	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:55106360G>A	ENST00000251372.3	+	4	483	c.301G>A	c.(301-303)Ggt>Agt	p.G101S	LILRA1_ENST00000453777.1_Missense_Mutation_p.G101S|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	101	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGTTTCTACGGTAGCCACAC	0.607													g|||	34	0.00678914	0.0	0.0	5008	,	,		18562	0.002		0.0	False		,,,				2504	0.0327					ENST00000453777.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(301-303)Ggt>Agt		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							85.0	83.0	83.0					19																	55106360		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106360G>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.301G>A	19.37:g.55106360G>A	ENSP00000251372:p.Gly101Ser					LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.G101S|LILRA1_ENST00000473156.1_3'UTR	p.G101S	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	4	471	+			101			Ig-like C2-type 1.		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.301G>A	CCDS12901.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	8.184	0.794451	0.16327	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.00664	5.92;5.92	1.58	-3.16	0.05217	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	8.473480	0.00166	N	0.000000	T	0.00784	0.0026	N	0.04355	-0.22	0.09310	N	1	D;B	0.59767	0.986;0.093	P;B	0.54210	0.745;0.083	T	0.33111	-0.9881	10	0.38643	T	0.18	.	2.1081	0.03696	0.3495:0.0:0.1803:0.4702	.	101;101	O75019-2;O75019	.;LIRA1_HUMAN	S	101	ENSP00000251372:G101S;ENSP00000413715:G101S	ENSP00000251372:G101S	G	+	1	0	LILRA1	59798172	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.095000	0.00044	-0.979000	0.03529	-1.210000	0.01631	GGT		0.607	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		11	52	0	0	0	0.069234	0	11	52				
CECR5	27440	broad.mit.edu	37	22	17619607	17619607	+	Silent	SNP	C	C	A	rs528367507		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:17619607C>A	ENST00000336737.4	-	7	793	c.768G>T	c.(766-768)ctG>ctT	p.L256L	CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Silent_p.L226L	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	256						mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CCAGGCACAGCAGAAAGGTGC	0.537																																						ENST00000336737.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21						c.(766-768)ctG>ctT		cat eye syndrome chromosome region, candidate 5							148.0	137.0	141.0					22																	17619607		2203	4300	6503	SO:0001819	synonymous_variant	27440						hydrolase activity	g.chr22:17619607C>A	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.768G>T	22.37:g.17619607C>A						CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Silent_p.L226L	p.L256L	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN			7	793	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	256					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Silent	SNP	ENST00000336737.4	37	c.768G>T	CCDS33595.1																																																																																				0.537	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		13	121	1	0	9.31168e-06	0.105934	1.0269e-05	13	121				
ABCA4	24	broad.mit.edu	37	1	94496611	94496611	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:94496611G>A	ENST00000370225.3	-	28	4280	c.4194C>T	c.(4192-4194)ggC>ggT	p.G1398G		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1398					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CGGGGTATTCGCCAAAAGGAG	0.512																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(4192-4194)ggC>ggT		ATP-binding cassette, sub-family A (ABC1), member 4							124.0	104.0	111.0					1																	94496611		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94496611G>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.4194C>T	1.37:g.94496611G>A							p.G1398G	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	28	4280	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	1398					O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.4194C>T	CCDS747.1																																																																																				0.512	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		6	23	0	0	0	0.021553	0	6	23				
ATP8A1	10396	broad.mit.edu	37	4	42551058	42551058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr4:42551058C>T	ENST00000381668.5	-	19	1855	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E527K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	542					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTGAGCAATTCATATCTTTCT	0.308																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(1624-1626)Gaa>Aaa		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						82.0	89.0	87.0					4																	42551058		2203	4298	6501	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42551058C>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1624G>A	4.37:g.42551058C>T	ENSP00000371084:p.Glu542Lys					ATP8A1_ENST00000264449.10_Missense_Mutation_p.E527K	p.E542K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			19	1855	-			542					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.1624G>A	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987534	0.93106	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.66638	-0.22;-0.22	5.32	5.32	0.75619	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.058226	0.64402	D	0.000002	T	0.77418	0.4127	L	0.49571	1.57	0.80722	D	1	D;P;P	0.57257	0.979;0.526;0.879	D;P;P	0.71414	0.973;0.72;0.772	T	0.75233	-0.3390	10	0.36615	T	0.2	.	17.5541	0.87885	0.0:1.0:0.0:0.0	.	527;527;542	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	K	542;527	ENSP00000371084:E542K;ENSP00000264449:E527K	ENSP00000264449:E527K	E	-	1	0	ATP8A1	42245815	1.000000	0.71417	0.982000	0.44146	0.847000	0.48162	6.614000	0.74197	2.478000	0.83669	0.591000	0.81541	GAA		0.308	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		9	40	0	0	0	0.047766	0	9	40				
CORO2B	10391	broad.mit.edu	37	15	69003203	69003203	+	Missense_Mutation	SNP	G	G	A	rs543637910	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:69003203G>A	ENST00000566799.1	+	4	495	c.466G>A	c.(466-468)Gct>Act	p.A156T	CORO2B_ENST00000261861.5_Missense_Mutation_p.A151T|CORO2B_ENST00000540068.1_Missense_Mutation_p.A151T|CORO2B_ENST00000543950.1_Missense_Mutation_p.A151T			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	156					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCTGTTCAGCGCTGGCTACGA	0.622																																						ENST00000543950.1																			0				kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(451-453)Gct>Act		coronin, actin binding protein, 2B							38.0	37.0	38.0					15																	69003203		2200	4297	6497	SO:0001583	missense	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:69003203G>A	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.466G>A	15.37:g.69003203G>A	ENSP00000454783:p.Ala156Thr					CORO2B_ENST00000540068.1_Missense_Mutation_p.A151T|CORO2B_ENST00000566799.1_Missense_Mutation_p.A156T|CORO2B_ENST00000261861.5_Missense_Mutation_p.A151T	p.A151T	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN			4	805	+			156					A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	c.451G>A	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375038	0.82682	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.64618	-0.11;-0.11	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.64402	U	0.000019	T	0.63827	0.2544	M	0.75777	2.31	0.80722	D	1	P	0.42735	0.788	B	0.36766	0.232	T	0.70092	-0.4967	10	0.54805	T	0.06	-13.9823	18.5079	0.90904	0.0:0.0:1.0:0.0	.	156	Q9UQ03	COR2B_HUMAN	T	156;151;151	ENSP00000446250:A151T;ENSP00000443819:A151T	ENSP00000261861:A156T	A	+	1	0	CORO2B	66790257	1.000000	0.71417	0.692000	0.30179	0.870000	0.49936	9.366000	0.97143	2.608000	0.88229	0.561000	0.74099	GCT		0.622	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		3	5	0	0	0	0.004672	0	3	5				
LINC00207	388910	broad.mit.edu	37	22	44967270	44967270	+	lincRNA	SNP	C	C	T	rs371234427	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:44967270C>T	ENST00000605505.1	+	0	261					NR_028409.1				long intergenic non-protein coding RNA 207											lung(3)	3						acccactttacggatgaggaa	0.567													C|||	3	0.000599042	0.0008	0.0	5008	,	,		21539	0.0		0.001	False		,,,				2504	0.001					ENST00000605505.1																			0				lung(3)	3										C		0,3986		0,0,1993	55.0	59.0	58.0			0.3	0.0	22	dbSNP_134	58	8,8340		0,8,4166	no	intergenic				0,8,6159	TT,TC,CC		0.0958,0.0,0.0649			44967270	8,12326	1993	4174	6167			388910							g.chr22:44967270C>T	BC144508		22q13.31	2012-10-12	2011-08-11	2011-08-11	ENSG00000187012	ENSG00000187012		"""Long non-coding RNAs"""	37255	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 207"""	NCRNA00207			Standard	NR_028409		Approved		uc021wre.2		OTTHUMG00000150462		22.37:g.44967270C>T								NR_028409.1						0	261	+									RNA	SNP	ENST00000605505.1	37			.	.	.	.	.	.	.	.	.	.	c	2.169	-0.390376	0.04932	0.0	9.58E-4	ENSG00000187012	ENST00000334566	.	.	.	1.34	0.259	0.15583	.	.	.	.	.	T	0.29976	0.0750	.	.	.	0.09310	N	1	B	0.20550	0.046	B	0.12156	0.007	T	0.24835	-1.0149	7	0.87932	D	0	.	6.4535	0.21916	0.0:0.8041:0.0:0.1959	.	47	Q5JZ73	.	M	47	.	ENSP00000334101:T47M	T	+	2	0	NCRNA00207	43345934	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	0.324000	0.19610	-0.222000	0.09958	-1.615000	0.00797	ACG		0.567	LINC00207-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000468439.1	NR_028409		3	12	0	0	0	0.009096	0	3	12				
TTN	7273	broad.mit.edu	37	2	179606565	179606565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:179606565C>T	ENST00000591111.1	-	46	10668	c.10444G>A	c.(10444-10446)Gaa>Aaa	p.E3482K	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E3628K|TTN_ENST00000359218.5_Missense_Mutation_p.E3561K|TTN_ENST00000460472.2_Missense_Mutation_p.E3436K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E3799K|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13805			E -> K (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)	p.E3436K(1)		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)			GACAAAAGTTCAAGTGTTTCA	0.373																																						ENST00000589042.1																			1	Substitution - Missense(1)	p.E3436K(1)	skin(1)	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.(11395-11397)Gaa>Aaa		titin							50.0	47.0	48.0					2																	179606565		1818	4072	5890	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179606565C>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.10444G>A	2.37:g.179606565C>T	ENSP00000465570:p.Glu3482Lys					TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E3482K|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E3561K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3436K|TTN_ENST00000342175.6_Missense_Mutation_p.E3628K	p.E3799K	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)		48	11619	-			3482		S -> Y (in CMD1G).			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.11395G>A		.	.	.	.	.	.	.	.	.	.	C	17.03	3.285552	0.59867	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.63744	0.02;-0.06;0.04	6.16	5.27	0.74061	.	.	.	.	.	T	0.50377	0.1612	L	0.27053	0.805	0.34972	D	0.753233	P;P;P	0.41393	0.748;0.748;0.748	B;B;B	0.34991	0.193;0.193;0.193	T	0.65878	-0.6061	9	0.87932	D	0	.	17.5251	0.87798	0.0:0.8762:0.1238:0.0	.	3436;3561;3628	D3DPF9;E7EQE6;E7ET18	.;.;.	K	3436;3628;3561;3436	ENSP00000434586:E3436K;ENSP00000340554:E3628K;ENSP00000352154:E3561K	ENSP00000340554:E3628K	E	-	1	0	TTN	179314810	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.582000	0.60957	1.582000	0.49881	0.650000	0.86243	GAA		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	12	0	0	0	0.009096	0	4	12				
CNN1	1264	broad.mit.edu	37	19	11651894	11651894	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:11651894G>A	ENST00000252456.2	+	2	278	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	CNN1_ENST00000535659.2_5'UTR|CNN1_ENST00000544952.1_Missense_Mutation_p.A3T|CNN1_ENST00000592923.1_5'UTR|CNN1_ENST00000588468.1_3'UTR	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	23					actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GCCCCAGCTGGCCCAGAAGTA	0.632																																						ENST00000252456.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						c.(67-69)Gcc>Acc		calponin 1, basic, smooth muscle							33.0	28.0	30.0					19																	11651894		2203	4300	6503	SO:0001583	missense	1264				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding	g.chr19:11651894G>A	U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.67G>A	19.37:g.11651894G>A	ENSP00000252456:p.Ala23Thr					CNN1_ENST00000592923.1_5'UTR|CNN1_ENST00000544952.1_Missense_Mutation_p.A3T|CNN1_ENST00000588468.1_3'UTR|CNN1_ENST00000535659.2_5'UTR	p.A23T	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN			2	278	+			23					B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	Missense_Mutation	SNP	ENST00000252456.2	37	c.67G>A	CCDS12263.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815271	0.70912	.	.	ENSG00000130176	ENST00000252456;ENST00000544952	T;T	0.60424	0.19;0.19	5.1	5.1	0.69264	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.62792	0.2457	M	0.85945	2.785	0.80722	D	1	B	0.12013	0.005	B	0.15484	0.013	T	0.61758	-0.6997	10	0.23302	T	0.38	-40.5584	17.2865	0.87143	0.0:0.0:1.0:0.0	.	23	P51911	CNN1_HUMAN	T	23;3	ENSP00000252456:A23T;ENSP00000437470:A3T	ENSP00000252456:A23T	A	+	1	0	CNN1	11512894	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.661000	0.98601	2.378000	0.81104	0.549000	0.68633	GCC		0.632	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458854.1	NM_001299		3	14	0	0	0	0.004672	0	3	14				
MS4A14	84689	broad.mit.edu	37	11	60170536	60170536	+	Splice_Site	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:60170536T>C	ENST00000300187.6	+	4	745		c.e4+2		MS4A14_ENST00000395001.1_Splice_Site|MS4A14_ENST00000531783.1_Splice_Site|MS4A14_ENST00000395005.2_Splice_Site|MS4A14_ENST00000531787.1_Splice_Site	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14							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						CTTTTCATTGTAAGTGGTCTT	0.343																																						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.e4+2		membrane-spanning 4-domains, subfamily A, member 14							173.0	161.0	165.0					11																	60170536		2203	4300	6503	SO:0001630	splice_region_variant	84689					integral to membrane	receptor activity	g.chr11:60170536T>C	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.468+2T>C	11.37:g.60170536T>C						MS4A14_ENST00000531783.1_Splice_Site|MS4A14_ENST00000531787.1_Splice_Site|MS4A14_ENST00000395005.2_Splice_Site|MS4A14_ENST00000395001.1_Splice_Site		NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN			4	745	+								E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Splice_Site	SNP	ENST00000300187.6	37		CCDS31569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.474|9.474	1.096363|1.096363	0.20552|0.20552	.|.	.|.	ENSG00000166928|ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783;ENST00000395001|ENST00000534688	.|.	.|.	.|.	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.8518|10.8518	0.46775|0.46775	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|Q	-1|116	.|.	.|.	.|X	+|+	.|1	.|0	MS4A14|MS4A14	59927112|59927112	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.081000|0.081000	0.17604|0.17604	3.206000|3.206000	0.51098|0.51098	2.109000|2.109000	0.64355|0.64355	0.528000|0.528000	0.53228|0.53228	.|TAA		0.343	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2		Intron	21	57	0	0	0	0.049695	0	21	57				
VPS36	51028	broad.mit.edu	37	13	53007799	53007799	+	Missense_Mutation	SNP	C	C	T	rs35567300		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr13:53007799C>T	ENST00000378060.4	-	6	553	c.526G>A	c.(526-528)Gag>Aag	p.E176K	VPS36_ENST00000480923.1_5'Flank	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	176					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		ACAGTTACCTCAGAAATGTTT	0.343																																						ENST00000378060.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17						c.(526-528)Gag>Aag		vacuolar protein sorting 36 homolog (S. cerevisiae)							149.0	171.0	163.0					13																	53007799		2201	4300	6501	SO:0001583	missense	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:53007799C>T	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.526G>A	13.37:g.53007799C>T	ENSP00000367299:p.Glu176Lys						p.E176K	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	6	553	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	176					A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Missense_Mutation	SNP	ENST00000378060.4	37	c.526G>A	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	15.93	2.979553	0.53827	.	.	ENSG00000136100	ENST00000378060	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.56046	0.1959	L	0.45470	1.425	0.80722	D	1	B	0.18863	0.031	B	0.18871	0.023	T	0.52909	-0.8512	9	0.09590	T	0.72	-7.7966	19.1901	0.93663	0.0:1.0:0.0:0.0	.	176	Q86VN1	VPS36_HUMAN	K	176	.	ENSP00000367299:E176K	E	-	1	0	VPS36	51905800	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.307000	0.78920	2.776000	0.95493	0.655000	0.94253	GAG		0.343	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			3	41	0	0	0	0.009096	0	3	41				
PADI6	353238	broad.mit.edu	37	1	17727771	17727771	+	RNA	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:17727771G>A	ENST00000434762.2	+	0	1973							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AAGGGGACCTGCTGCCTGGAA	0.537																																						ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)						69.0	74.0	73.0					1																	17727771		1914	4140	6054			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17727771G>A	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17727771G>A										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1973	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	SNP	ENST00000434762.2	37																																																																																						0.537	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		4	38	0	0	0	0.014758	0	4	38				
IMMP2L	83943	broad.mit.edu	37	7	110303748	110303748	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:110303748G>A	ENST00000405709.2	-	6	880	c.438C>T	c.(436-438)gcC>gcT	p.A146A	IMMP2L_ENST00000450877.1_Silent_p.A128A|IMMP2L_ENST00000331762.3_Silent_p.A146A|IMMP2L_ENST00000452895.1_Silent_p.A146A|IMMP2L_ENST00000489381.1_5'UTR|IMMP2L_ENST00000415362.1_Silent_p.A146A	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	146					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		GGATATGTGTGGCATGGGCAT	0.418																																						ENST00000405709.2																			0				endometrium(3)|large_intestine(6)|lung(5)	14						c.(436-438)gcC>gcT		IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)							71.0	71.0	71.0					7																	110303748		2203	4300	6503	SO:0001819	synonymous_variant	83943				protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity	g.chr7:110303748G>A	AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"""IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)"", ""IMMP2L intronic transcript 1 (non-protein coding)"""	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.438C>T	7.37:g.110303748G>A						IMMP2L_ENST00000450877.1_Silent_p.A128A|IMMP2L_ENST00000415362.1_Silent_p.A146A|IMMP2L_ENST00000331762.3_Silent_p.A146A|IMMP2L_ENST00000489381.1_5'UTR|IMMP2L_ENST00000452895.1_Silent_p.A146A	p.A146A	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)	6	880	-			146					Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Silent	SNP	ENST00000405709.2	37	c.438C>T	CCDS5753.1																																																																																				0.418	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338109.4	NM_032549		6	48	0	0	0	0.029380	0	6	48				
ERAP1	51752	broad.mit.edu	37	5	96121595	96121595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:96121595C>T	ENST00000443439.2	-	13	1906	c.1840G>A	c.(1840-1842)Gat>Aat	p.D614N	ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000602972.1_RNA|ERAP1_ENST00000296754.3_Missense_Mutation_p.D614N|CTD-2260A17.1_ENST00000512856.1_RNA	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	614					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CATCCATCATCCTCGTAATGC	0.413																																						ENST00000296754.3																			0				endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19						c.(1840-1842)Gat>Aat		endoplasmic reticulum aminopeptidase 1							153.0	122.0	133.0					5																	96121595		2203	4300	6503	SO:0001583	missense	51752				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding	g.chr5:96121595C>T	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.1840G>A	5.37:g.96121595C>T	ENSP00000406304:p.Asp614Asn					CTD-2260A17.1_ENST00000602972.1_RNA|ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA|ERAP1_ENST00000443439.2_Missense_Mutation_p.D614N	p.D614N	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)	13	2097	-		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)	614					O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	ENST00000443439.2	37	c.1840G>A	CCDS47250.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700701	0.48307	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.06371	3.31;3.31	5.77	4.91	0.64330	.	0.232644	0.44483	D	0.000455	T	0.10423	0.0255	M	0.66939	2.045	0.50313	D	0.999864	B;B;B	0.10296	0.0;0.001;0.003	B;B;B	0.12837	0.001;0.008;0.004	T	0.03354	-1.1045	10	0.36615	T	0.2	.	14.7055	0.69186	0.0:0.9299:0.0:0.0701	.	614;614;614	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	N	614	ENSP00000296754:D614N;ENSP00000406304:D614N	ENSP00000296754:D614N	D	-	1	0	ERAP1	96147351	0.783000	0.28701	1.000000	0.80357	0.798000	0.45092	1.947000	0.40293	1.446000	0.47643	-0.254000	0.11334	GAT		0.413	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		4	49	0	0	0	0.009096	0	4	49				
TUB	7275	broad.mit.edu	37	11	8123160	8123160	+	Silent	SNP	C	C	T	rs199733844		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:8123160C>T	ENST00000299506.2	+	12	1664	c.1515C>T	c.(1513-1515)tgC>tgT	p.C505C	TUB_ENST00000305253.4_Silent_p.C560C|TUB_ENST00000534099.1_Silent_p.C511C	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	505					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGCTGGCGTGCGAGTAGAGGC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18374	0.0		0.001	False		,,,				2504	0.0					ENST00000305253.4																			0				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1678-1680)tgC>tgT		tubby bipartite transcription factor		C	,	1,4401	2.1+/-5.4	0,1,2200	98.0	71.0	80.0		1680,1515	-6.7	0.8	11		80	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous	TUB	NM_003320.4,NM_177972.2	,	0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154	,	560/562,505/507	8123160	2,12992	2201	4296	6497	SO:0001819	synonymous_variant	7275				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane		g.chr11:8123160C>T	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.1515C>T	11.37:g.8123160C>T						TUB_ENST00000299506.2_Silent_p.C505C|TUB_ENST00000534099.1_Silent_p.C511C	p.C560C	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)	13	1921	+		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)	505					D3DQU4|O00293|Q6B007	Silent	SNP	ENST00000299506.2	37	c.1680C>T	CCDS7787.1																																																																																				0.597	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385823.1	NM_003320		15	8	0	0	0	0.020292	0	15	8				
CLASRP	11129	broad.mit.edu	37	19	45555410	45555410	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:45555410G>C	ENST00000221455.3	+	3	279	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	CLASRP_ENST00000544944.2_Missense_Mutation_p.E61Q|CLASRP_ENST00000391953.4_Intron	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	61					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCTGGCCGCTGAGAGCCCTGT	0.562																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(181-183)Gag>Cag		CLK4-associating serine/arginine rich protein							77.0	70.0	72.0					19																	45555410		2203	4300	6503	SO:0001583	missense	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45555410G>C	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.181G>C	19.37:g.45555410G>C	ENSP00000221455:p.Glu61Gln					CLASRP_ENST00000221455.3_Missense_Mutation_p.E61Q|CLASRP_ENST00000391953.4_Intron	p.E61Q			Q8N2M8	CLASR_HUMAN			2	873	+			61					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	c.181G>C	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702753	0.88924	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000544944	T;T;T	0.27890	1.64;1.64;1.64	5.03	5.03	0.67393	Splicing factor, suppressor of white apricot (1);	0.000000	0.36628	U	0.002499	T	0.48409	0.1498	L	0.46741	1.465	0.80722	D	1	D;D	0.76494	0.993;0.999	P;D	0.73708	0.886;0.981	T	0.38243	-0.9670	10	0.49607	T	0.09	-26.5213	15.9207	0.79570	0.0:0.0:1.0:0.0	.	61;61	F5H0Q6;Q8N2M8	.;CLASR_HUMAN	Q	61	ENSP00000221455:E61Q;ENSP00000375814:E61Q;ENSP00000438702:E61Q	ENSP00000221455:E61Q	E	+	1	0	CLASRP	50247250	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	8.713000	0.91408	2.620000	0.88729	0.655000	0.94253	GAG		0.562	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		4	49	0	0	0	0.009096	0	4	49				
TRA2B	6434	broad.mit.edu	37	3	185644425	185644425	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:185644425C>T	ENST00000453386.2	-	2	409	c.134G>A	c.(133-135)cGt>cAt	p.R45H	TRA2B_ENST00000382191.4_Intron|TRA2B_ENST00000471134.1_5'Flank	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	45	Arg/Ser-rich (RS1 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						TGATCTGGAACGCCTGGAATC	0.488																																						ENST00000453386.2																			0				breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						c.(133-135)cGt>cAt		transformer 2 beta homolog (Drosophila)							125.0	120.0	122.0					3																	185644425		2203	4300	6503	SO:0001583	missense	6434				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	g.chr3:185644425C>T	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.134G>A	3.37:g.185644425C>T	ENSP00000416959:p.Arg45His					TRA2B_ENST00000382191.4_Intron	p.R45H	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN			2	409	-			45			Arg/Ser-rich (RS1 domain).		B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	ENST00000453386.2	37	c.134G>A	CCDS33905.1	.	.	.	.	.	.	.	.	.	.	C	9.465	1.094195	0.20471	.	.	ENSG00000136527	ENST00000453386	T	0.28895	1.59	6.01	5.14	0.70334	.	0.141974	0.64402	D	0.000003	T	0.10380	0.0254	N	0.01576	-0.805	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14144	-1.0483	10	0.08381	T	0.77	-4.8752	10.1948	0.43047	0.0:0.8477:0.0:0.1523	.	45;45	B2RDQ3;P62995	.;TRA2B_HUMAN	H	45	ENSP00000416959:R45H	ENSP00000416959:R45H	R	-	2	0	TRA2B	187127119	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.688000	0.46984	1.558000	0.49541	0.650000	0.86243	CGT		0.488	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593		28	61	0	0	0	0.034045	0	28	61				
SLC17A5	26503	broad.mit.edu	37	6	74331548	74331548	+	Silent	SNP	G	G	A	rs147732875	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:74331548G>A	ENST00000355773.5	-	7	1225	c.957C>T	c.(955-957)atC>atT	p.I319I	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	319					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGAACCTTAGGATCTCCTTCA	0.313																																						ENST00000355773.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(955-957)atC>atT		solute carrier family 17 (acidic sugar transporter), member 5							42.0	43.0	43.0					6																	74331548		2203	4300	6503	SO:0001819	synonymous_variant	26503				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	g.chr6:74331548G>A	AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.957C>T	6.37:g.74331548G>A						SLC17A5_ENST00000393019.3_3'UTR	p.I319I	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN			7	1225	-			319					Q5SZ76|Q8NBR5|Q9UGH0	Silent	SNP	ENST00000355773.5	37	c.957C>T	CCDS4981.1																																																																																				0.313	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041228.1			9	21	0	0	0	0.047766	0	9	21				
CSF1	1435	broad.mit.edu	37	1	110456910	110456910	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:110456910C>T	ENST00000329608.6	+	2	460	c.69C>T	c.(67-69)gtC>gtT	p.V23V	CSF1_ENST00000344188.5_Silent_p.V23V|CSF1_ENST00000420111.2_Silent_p.V23V|CSF1_ENST00000369802.3_Silent_p.V23V|CSF1_ENST00000369801.1_Silent_p.V23V	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	23					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGTTGTTGGTCTGTCTCCTGG	0.587																																						ENST00000329608.6																			0				breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(67-69)gtC>gtT		colony stimulating factor 1 (macrophage)							174.0	162.0	166.0					1																	110456910		2203	4300	6503	SO:0001819	synonymous_variant	1435				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	g.chr1:110456910C>T	BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.69C>T	1.37:g.110456910C>T						CSF1_ENST00000369801.1_Silent_p.V23V|CSF1_ENST00000369802.3_Silent_p.V23V|CSF1_ENST00000344188.5_Silent_p.V23V|CSF1_ENST00000420111.2_Silent_p.V23V	p.V23V	NM_000757.5|NM_172211.3	NP_000748.3|NP_757350.1	P09603	CSF1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)	2	460	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)	23					A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Silent	SNP	ENST00000329608.6	37	c.69C>T	CCDS816.1																																																																																				0.587	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757		16	29	0	0	0	0.024245	0	16	29				
CCDC170	80129	broad.mit.edu	37	6	151857487	151857487	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:151857487C>T	ENST00000239374.7	+	2	191	c.92C>T	c.(91-93)aCg>aTg	p.T31M	CCDC170_ENST00000367290.5_Missense_Mutation_p.T31M|CCDC170_ENST00000544131.1_3'UTR	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	31								p.T31M(1)									GTCCCGGTCACGCGGGAGCAG	0.433																																						ENST00000367290.5																			1	Substitution - Missense(1)	p.T31M(1)	large_intestine(1)								c.(91-93)aCg>aTg		coiled-coil domain containing 170							104.0	97.0	99.0					6																	151857487		1854	4094	5948	SO:0001583	missense	80129							g.chr6:151857487C>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.92C>T	6.37:g.151857487C>T	ENSP00000239374:p.Thr31Met					CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000239374.7_Missense_Mutation_p.T31M	p.T31M			Q8IYT3	CF097_HUMAN			2	181	+			31					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.92C>T	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086199	0.36855	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.11821	2.75;2.74	5.95	3.17	0.36434	.	0.491298	0.22181	N	0.063519	T	0.16257	0.0391	M	0.73962	2.25	0.26952	N	0.966002	D	0.71674	0.998	P	0.59288	0.855	T	0.05451	-1.0884	10	0.87932	D	0	-1.2721	9.129	0.36833	0.0:0.7463:0.1219:0.1318	.	31	Q8IYT3	CF097_HUMAN	M	31	ENSP00000239374:T31M;ENSP00000356259:T31M	ENSP00000239374:T31M	T	+	2	0	C6orf97	151899180	0.675000	0.27558	0.047000	0.18901	0.001000	0.01503	1.302000	0.33459	0.389000	0.25086	-0.157000	0.13467	ACG		0.433	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		5	57	0	0	0	0.021553	0	5	57				
ISLR2	57611	broad.mit.edu	37	15	74426761	74426761	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:74426761C>T	ENST00000361742.3	+	4	2435	c.1666C>T	c.(1666-1668)Cgc>Tgc	p.R556C	ISLR2_ENST00000445793.1_Missense_Mutation_p.R556C|ISLR2_ENST00000565159.1_Missense_Mutation_p.R556C|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000435464.1_Missense_Mutation_p.R556C|ISLR2_ENST00000419208.1_Missense_Mutation_p.R556C|ISLR2_ENST00000453268.2_Missense_Mutation_p.R556C|ISLR2_ENST00000565540.1_Missense_Mutation_p.R556C	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	556					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CTACTGGTTCCGCGGCCTGCG	0.682																																						ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(1666-1668)Cgc>Tgc		immunoglobulin superfamily containing leucine-rich repeat 2							12.0	14.0	13.0					15																	74426761		2165	4232	6397	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74426761C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1666C>T	15.37:g.74426761C>T	ENSP00000355402:p.Arg556Cys					ISLR2_ENST00000565159.1_Missense_Mutation_p.R556C|ISLR2_ENST00000565540.1_Missense_Mutation_p.R556C|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.R556C|ISLR2_ENST00000445793.1_Missense_Mutation_p.R556C|ISLR2_ENST00000435464.1_Missense_Mutation_p.R556C|ISLR2_ENST00000419208.1_Missense_Mutation_p.R556C	p.R556C	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	2435	+			556					A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.1666C>T	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919053	0.73098	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000419208	T;T;T;T;T	0.04758	3.56;3.56;3.56;3.56;3.56	4.73	4.73	0.59995	.	0.210916	0.42548	D	0.000692	T	0.06462	0.0166	N	0.19112	0.55	0.58432	D	0.999999	D	0.69078	0.997	P	0.47981	0.563	T	0.37526	-0.9702	10	0.87932	D	0	.	16.4299	0.83839	0.0:1.0:0.0:0.0	.	556	Q6UXK2	ISLR2_HUMAN	C	556	ENSP00000403244:R556C;ENSP00000355402:R556C;ENSP00000411443:R556C;ENSP00000411834:R556C;ENSP00000408872:R556C	ENSP00000355402:R556C	R	+	1	0	ISLR2	72213814	1.000000	0.71417	1.000000	0.80357	0.658000	0.38924	5.730000	0.68546	2.166000	0.68216	0.313000	0.20887	CGC		0.682	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		4	9	0	0	0	0.009096	0	4	9				
UPF2	26019	broad.mit.edu	37	10	11973704	11973704	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr10:11973704C>G	ENST00000356352.2	-	19	4097	c.3624G>C	c.(3622-3624)gaG>gaC	p.E1208D	UPF2_ENST00000357604.5_Missense_Mutation_p.E1208D|UPF2_ENST00000397053.2_Missense_Mutation_p.E1208D			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1208	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTCTCATCCTCTCTTCTTGTT	0.373																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(3622-3624)gaG>gaC		UPF2 regulator of nonsense transcripts homolog (yeast)							216.0	198.0	204.0					10																	11973704		2203	4300	6503	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:11973704C>G	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.3624G>C	10.37:g.11973704C>G	ENSP00000348708:p.Glu1208Asp					UPF2_ENST00000357604.5_Missense_Mutation_p.E1208D|UPF2_ENST00000397053.2_Missense_Mutation_p.E1208D	p.E1208D			Q9HAU5	RENT2_HUMAN			19	4097	-		Renal(717;0.228)	1208			Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.3624G>C	CCDS7086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.39|16.39	3.109996|3.109996	0.56398|0.56398	.|.	.|.	ENSG00000151461|ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053|ENST00000359268	T;T;T|.	0.63913|.	-0.07;-0.07;-0.07|.	6.08|6.08	-0.863|-0.863	0.10669|0.10669	Up-frameshift suppressor 2 (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.67767|0.67767	0.2928|0.2928	M|M	0.72576|0.72576	2.205|2.205	0.45354|0.45354	D|D	0.99834|0.99834	B|.	0.25809|.	0.135|.	B|.	0.34418|.	0.182|.	T|T	0.67027|0.67027	-0.5774|-0.5774	10|7	0.56958|0.56958	D|D	0.05|0.05	.|.	10.6164|10.6164	0.45454|0.45454	0.0:0.5722:0.0:0.4278|0.0:0.5722:0.0:0.4278	.|.	1208|.	Q9HAU5|.	RENT2_HUMAN|.	D|Q	1208|113	ENSP00000348708:E1208D;ENSP00000350221:E1208D;ENSP00000380244:E1208D|.	ENSP00000348708:E1208D|ENSP00000352213:E113Q	E|E	-|-	3|1	2|0	UPF2|UPF2	12013710|12013710	0.996000|0.996000	0.38824|0.38824	0.983000|0.983000	0.44433|0.44433	0.987000|0.987000	0.75469|0.75469	0.489000|0.489000	0.22387|0.22387	-0.294000|-0.294000	0.08973|0.08973	-0.736000|-0.736000	0.03550|0.03550	GAG|GAG		0.373	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			10	58	0	0	0	0.080935	0	10	58				
BRINP3	339479	broad.mit.edu	37	1	190203579	190203579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:190203579C>T	ENST00000367462.3	-	5	878	c.647G>A	c.(646-648)gGc>gAc	p.G216D	BRINP3_ENST00000534846.1_Missense_Mutation_p.G114D	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	216	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GTTACTGCAGCCAAGAGGACC	0.378																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(646-648)gGc>gAc									135.0	117.0	123.0					1																	190203579		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190203579C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.647G>A	1.37:g.190203579C>T	ENSP00000356432:p.Gly216Asp					FAM5C_ENST00000534846.1_Missense_Mutation_p.G114D|FAM5C_ENST00000484105.1_5'UTR	p.G216D	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			5	878	-	Prostate(682;0.198)		216					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.647G>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158763	0.78226	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.26660	1.98;1.72	5.87	5.87	0.94306	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.52071	-0.8624	10	0.87932	D	0	.	17.6929	0.88273	0.0:1.0:0.0:0.0	.	114;216	B7Z260;Q76B58	.;FAM5C_HUMAN	D	216;114	ENSP00000356432:G216D;ENSP00000438022:G114D	ENSP00000356432:G216D	G	-	2	0	FAM5C	188470202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.706000	0.84615	2.775000	0.95449	0.650000	0.86243	GGC		0.378	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		9	51	0	0	0	0.069234	0	9	51				
AKAP2	11217	broad.mit.edu	37	9	112900135	112900135	+	Missense_Mutation	SNP	G	G	A	rs142423891		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:112900135G>A	ENST00000259318.7	+	2	1825	c.1618G>A	c.(1618-1620)Gtc>Atc	p.V540I	PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.V771I|AKAP2_ENST00000434623.2_Missense_Mutation_p.V629I|AKAP2_ENST00000555236.1_Missense_Mutation_p.V771I|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.V771I|AKAP2_ENST00000510514.5_Missense_Mutation_p.V771I|AKAP2_ENST00000374525.1_Missense_Mutation_p.V629I	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	540										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						AGGAGAAGGCGTCTCCAAGTC	0.532																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2311-2313)Gtc>Atc				G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	75.0	71.0	72.0		1885,1618,1885,2311,2311	5.1	0.9	9	dbSNP_134	72	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense	AKAP2,PALM2-AKAP2	NM_001004065.4,NM_001136562.2,NM_001198656.1,NM_007203.4,NM_147150.2	29,29,29,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign,benign,benign	629/949,540/860,629/962,771/1104,771/1091	112900135	2,13004	2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112900135G>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1618G>A	9.37:g.112900135G>A	ENSP00000259318:p.Val540Ile					AKAP2_ENST00000259318.7_Missense_Mutation_p.V540I|AKAP2_ENST00000374525.1_Missense_Mutation_p.V629I|AKAP2_ENST00000555236.1_Missense_Mutation_p.V771I|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.V771I|AKAP2_ENST00000434623.2_Missense_Mutation_p.V629I|AKAP2_ENST00000510514.5_Missense_Mutation_p.V771I	p.V771I	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	2491	+			540					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.2311G>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	9.464	1.093858	0.20471	0.0	2.33E-4	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.46819	2.21;2.2;2.21;2.2;1.46;0.86;0.87;1.46	5.96	5.07	0.68467	.	0.439078	0.23935	N	0.043118	T	0.27241	0.0668	N	0.14661	0.345	0.23645	N	0.997213	B;B;B;B;B;B;B;B	0.21309	0.004;0.004;0.007;0.016;0.009;0.03;0.054;0.008	B;B;B;B;B;B;B;B	0.13407	0.002;0.003;0.003;0.009;0.004;0.007;0.007;0.003	T	0.15723	-1.0427	10	0.11182	T	0.66	-18.9163	10.4934	0.44764	0.1625:0.0:0.8375:0.0	.	540;629;623;629;630;771;771;589	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	I	771;771;771;771;629;629;589;540	ENSP00000363654:V771I;ENSP00000305861:V771I;ENSP00000451476:V771I;ENSP00000421522:V771I;ENSP00000404782:V629I;ENSP00000363649:V629I;ENSP00000419268:V589I;ENSP00000259318:V540I	ENSP00000259318:V540I	V	+	1	0	PALM2-AKAP2;AKAP2	111939956	0.796000	0.28864	0.950000	0.38849	0.901000	0.52897	1.402000	0.34600	1.511000	0.48818	0.655000	0.94253	GTC		0.532	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		5	46	0	0	0	0.014758	0	5	46				
RBBP7	5931	broad.mit.edu	37	X	16887232	16887232	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chrX:16887232C>A	ENST00000380087.2	-	2	488	c.128G>T	c.(127-129)aGt>aTt	p.S43I	RBBP7_ENST00000380084.4_Missense_Mutation_p.S87I|RBBP7_ENST00000404022.1_Missense_Mutation_p.S43I			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	43					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					AACGGTAAGACTGGGCCACTG	0.403																																						ENST00000380087.2																			0				biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25						c.(127-129)aGt>aTt		retinoblastoma binding protein 7							119.0	103.0	108.0					X																	16887232		2203	4300	6503	SO:0001583	missense	5931				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	g.chrX:16887232C>A	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.128G>T	X.37:g.16887232C>A	ENSP00000369427:p.Ser43Ile					RBBP7_ENST00000380084.4_Missense_Mutation_p.S87I|RBBP7_ENST00000404022.1_Missense_Mutation_p.S43I	p.S43I			Q16576	RBBP7_HUMAN			2	488	-	Hepatocellular(33;0.0997)		43					Q5JP00	Missense_Mutation	SNP	ENST00000380087.2	37	c.128G>T	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132480	0.94473	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000468092	T;T;T	0.79845	-1.02;-1.31;-1.0	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.93802	0.8018	H	0.97896	4.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.996	D	0.96083	0.9055	10	0.87932	D	0	-13.0947	16.8394	0.85964	0.0:1.0:0.0:0.0	.	43;43;87	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	I	43;87;43;9	ENSP00000369427:S43I;ENSP00000369424:S87I;ENSP00000386068:S43I	ENSP00000369424:S87I	S	-	2	0	RBBP7	16797153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.287000	0.76781	0.594000	0.82650	AGT		0.403	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893		8	28	1	0	1.12685e-05	0.047766	1.23119e-05	8	28				
DPPA4	55211	broad.mit.edu	37	3	109049479	109049479	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:109049479T>G	ENST00000335658.6	-	5	625	c.571A>C	c.(571-573)Aca>Cca	p.T191P	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	191					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						ACCACAACTGTATTAACTCCC	0.562																																						ENST00000335658.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(571-573)Aca>Cca		developmental pluripotency associated 4							71.0	76.0	74.0					3																	109049479		2203	4300	6503	SO:0001583	missense	55211					nucleus	protein binding	g.chr3:109049479T>G	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.571A>C	3.37:g.109049479T>G	ENSP00000335306:p.Thr191Pro					DPPA4_ENST00000478791.1_5'UTR	p.T191P	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN			5	625	-			191					A8K4M7|Q9H9N5|Q9NVI6	Missense_Mutation	SNP	ENST00000335658.6	37	c.571A>C	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118280	0.77323	.	.	ENSG00000121570	ENST00000335658	T	0.57273	0.41	4.25	0.414	0.16406	.	0.678117	0.13499	N	0.383404	T	0.60170	0.2248	M	0.70275	2.135	0.09310	N	1	D;D	0.60575	0.985;0.988	P;P	0.60012	0.867;0.796	T	0.49322	-0.8952	9	.	.	.	-0.6236	3.42	0.07389	0.0:0.2414:0.2031:0.5555	.	181;191	B7Z5Q7;Q7L190	.;DPPA4_HUMAN	P	191	ENSP00000335306:T191P	.	T	-	1	0	DPPA4	110532169	0.008000	0.16893	0.000000	0.03702	0.867000	0.49689	1.401000	0.34589	0.065000	0.16485	0.383000	0.25322	ACA		0.562	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		43	35	0	0	0	0.039052	0	43	35				
GLO1	2739	broad.mit.edu	37	6	38670758	38670758	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:38670758G>A	ENST00000373365.4	-	1	159	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S		NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	25					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	TTGGTACTGGGGTCCGCGTCG	0.711																																						ENST00000373365.4																			0				lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6						c.(73-75)Ccc>Tcc		glyoxalase I	Glutathione(DB00143)						15.0	17.0	16.0					6																	38670758		2198	4292	6490	SO:0001583	missense	2739				anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding	g.chr6:38670758G>A	L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"""glyoxalase domain containing 1"""	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.73C>T	6.37:g.38670758G>A	ENSP00000362463:p.Pro25Ser						p.P25S	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN			1	159	-			25					B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Missense_Mutation	SNP	ENST00000373365.4	37	c.73C>T	CCDS4837.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639396	0.67244	.	.	ENSG00000124767	ENST00000373365	T	0.28666	1.6	5.65	5.65	0.86999	.	0.050126	0.85682	D	0.000000	T	0.09512	0.0234	N	0.08118	0	0.51767	D	0.999934	B	0.18863	0.031	B	0.17433	0.018	T	0.06391	-1.0829	10	0.41790	T	0.15	-12.3174	15.093	0.72211	0.0:0.0:1.0:0.0	.	25	Q04760	LGUL_HUMAN	S	25	ENSP00000362463:P25S	ENSP00000362463:P25S	P	-	1	0	GLO1	38778736	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.140000	0.58031	2.941000	0.99782	0.655000	0.94253	CCC		0.711	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2	NM_006708		3	23	0	0	0	0.009096	0	3	23				
TRIM36	55521	broad.mit.edu	37	5	114499269	114499269	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:114499269G>C	ENST00000282369.3	-	2	365	c.244C>G	c.(244-246)Cga>Gga	p.R82G	TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000513154.1_Missense_Mutation_p.R70G	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	82					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AGCCGAAGTCGAGGACTGCTT	0.453																																						ENST00000513154.1																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(208-210)Cga>Gga		tripartite motif containing 36							139.0	131.0	134.0					5																	114499269		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114499269G>C	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.244C>G	5.37:g.114499269G>C	ENSP00000282369:p.Arg82Gly					TRIM36_ENST00000282369.3_Missense_Mutation_p.R82G|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000515104.1_5'UTR	p.R70G			Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	2	534	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	82					A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.208C>G	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772065	0.69992	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	T;T;T	0.56444	0.46;0.58;0.86	5.31	4.41	0.53225	Zinc finger, RING-type (2);	0.000000	0.64402	D	0.000001	T	0.68109	0.2965	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.65319	-0.6197	10	0.21014	T	0.42	.	14.9924	0.71399	0.0:0.0:0.8562:0.1438	.	70;82	E9PFI8;Q9NQ86	.;TRI36_HUMAN	G	82;70;70	ENSP00000282369:R82G;ENSP00000423934:R70G;ENSP00000424743:R70G	ENSP00000282369:R82G	R	-	1	2	TRIM36	114527168	1.000000	0.71417	0.978000	0.43139	0.999000	0.98932	4.088000	0.57678	1.163000	0.42636	0.655000	0.94253	CGA		0.453	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		5	49	0	0	0	0.021553	0	5	49				
CTNNA2	1496	broad.mit.edu	37	2	80646578	80646578	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:80646578G>A	ENST00000402739.4	+	8	1147	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q	CTNNA2_ENST00000496558.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R60Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R415Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R381Q	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	381					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						CTGTAGCTTCGGAAAGCAGTG	0.358																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1141-1143)cGg>cAg		catenin (cadherin-associated protein), alpha 2							113.0	103.0	106.0					2																	80646578		1874	4122	5996	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.chr2:80646578G>A		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.1142G>A	2.37:g.80646578G>A	ENSP00000384638:p.Arg381Gln					CTNNA2_ENST00000343114.3_Missense_Mutation_p.R60Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R415Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R381Q	p.R381Q			P26232	CTNA2_HUMAN			13	1866	+			381					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1142G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.233757	0.95207	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	T;T;T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.58133	0.2101	M	0.64676	1.99	0.80722	D	1	B;D;D;D	0.69078	0.301;0.997;0.99;0.982	B;P;P;P	0.55222	0.066;0.756;0.771;0.642	T	0.52366	-0.8585	9	.	.	.	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	13;381;381;381	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	Q	381;381;415;381;381;381;60;46	ENSP00000418191:R381Q;ENSP00000419295:R381Q;ENSP00000355398:R415Q;ENSP00000384638:R381Q;ENSP00000444675:R381Q;ENSP00000441705:R381Q;ENSP00000341500:R60Q;ENSP00000386587:R46Q	.	R	+	2	0	CTNNA2	80500089	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	CGG		0.358	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		8	51	0	0	0	0.038147	0	8	51				
ZNF516	9658	broad.mit.edu	37	18	74154962	74154962	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr18:74154962G>A	ENST00000443185.2	-	3	366	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	17					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCCCTGGTGGGGCTGGGGCCT	0.692																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(49-51)Ccc>Tcc		zinc finger protein 516							17.0	21.0	20.0					18																	74154962		1996	4158	6154	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154962G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.49C>T	18.37:g.74154962G>A	ENSP00000394757:p.Pro17Ser					ZNF516_ENST00000524431.2_5'UTR	p.P17S	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	366	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	17						Missense_Mutation	SNP	ENST00000443185.2	37	c.49C>T		.	.	.	.	.	.	.	.	.	.	G	20.4	3.985534	0.74589	.	.	ENSG00000101493	ENST00000443185;ENST00000532857	T;T	0.11063	2.81;3.16	4.3	4.3	0.51218	.	0.095548	0.43919	D	0.000509	T	0.20659	0.0497	.	.	.	0.47276	D	0.999371	D	0.69078	0.997	P	0.61874	0.895	T	0.04678	-1.0934	9	0.11794	T	0.64	-13.6921	15.3131	0.74053	0.0:0.0:1.0:0.0	.	17	Q92618	ZN516_HUMAN	S	17	ENSP00000394757:P17S;ENSP00000446211:P17S	ENSP00000394757:P17S	P	-	1	0	ZNF516	72283950	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	5.885000	0.69736	2.106000	0.64143	0.561000	0.74099	CCC		0.692	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		7	4	0	0	0	0.047766	0	7	4				
ZC3H7B	23264	broad.mit.edu	37	22	41752804	41752804	+	Silent	SNP	C	C	G	rs201198885		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:41752804C>G	ENST00000352645.4	+	22	2930	c.2673C>G	c.(2671-2673)ctC>ctG	p.L891L	ZC3H7B_ENST00000351589.4_Silent_p.L891L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	907					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGTTCCGGCTCTGCGACAGGT	0.667																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(2671-2673)ctC>ctG		zinc finger CCCH-type containing 7B							67.0	64.0	65.0					22																	41752804		2203	4300	6503	SO:0001819	synonymous_variant	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41752804C>G		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.2673C>G	22.37:g.41752804C>G						ZC3H7B_ENST00000351589.4_Silent_p.L891L	p.L891L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			22	2930	+			907					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	ENST00000352645.4	37	c.2673C>G	CCDS14013.1																																																																																				0.667	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		7	39	0	0	0	0.029380	0	7	39				
CHRM3	1131	broad.mit.edu	37	1	240071198	240071198	+	Nonsense_Mutation	SNP	C	C	A	rs201113785		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:240071198C>A	ENST00000255380.4	+	5	1226	c.447C>A	c.(445-447)taC>taA	p.Y149*		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	149	Agonist binding. {ECO:0000250}.				cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCATTGACTACGTAGCCAGCA	0.473																																						ENST00000255380.4																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51						c.(445-447)taC>taA		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						101.0	97.0	98.0					1																	240071198		2203	4300	6503	SO:0001587	stop_gained	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240071198C>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.447C>A	1.37:g.240071198C>A	ENSP00000255380:p.Tyr149*						p.Y149*	NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	1226	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	149					Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Nonsense_Mutation	SNP	ENST00000255380.4	37	c.447C>A	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	C	39	7.442251	0.98286	.	.	ENSG00000133019	ENST00000255380	.	.	.	5.9	-5.55	0.02536	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.4742	16.4275	0.83818	0.0:0.5925:0.0:0.4075	.	.	.	.	X	149	.	ENSP00000255380:Y149X	Y	+	3	2	CHRM3	238137821	0.041000	0.20044	0.973000	0.42090	0.976000	0.68499	-0.709000	0.05030	-0.745000	0.04772	-1.133000	0.01973	TAC		0.473	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		27	34	1	0	9.86323e-18	0.091800	1.1191e-17	27	34				
C9orf170	401535	broad.mit.edu	37	9	89771559	89771559	+	Silent	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:89771559T>C	ENST00000375941.2	+	2	327	c.240T>C	c.(238-240)tcT>tcC	p.S80S		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	80										large_intestine(3)|lung(2)|prostate(1)	6						ggagaaagtctgatttaggag	0.393																																						ENST00000375941.2																			0				large_intestine(3)|lung(2)|prostate(1)	6						c.(238-240)tcT>tcC		chromosome 9 open reading frame 170							50.0	49.0	49.0					9																	89771559		2203	4300	6503	SO:0001819	synonymous_variant	401535							g.chr9:89771559T>C	AK127445	CCDS35058.1	9q21.33	2009-02-11			ENSG00000204446	ENSG00000204446			33817	protein-coding gene	gene with protein product							Standard	NM_001001709		Approved	FLJ45537	uc004apa.1	A2RU37	OTTHUMG00000159587	ENST00000375941.2:c.240T>C	9.37:g.89771559T>C							p.S80S	NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN			2	327	+			80						Silent	SNP	ENST00000375941.2	37	c.240T>C	CCDS35058.1																																																																																				0.393	C9orf170-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356346.1	NM_001001709		4	20	0	0	0	0.009096	0	4	20				
MAST1	22983	broad.mit.edu	37	19	12951871	12951871	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:12951871C>T	ENST00000251472.4	+	3	278	c.239C>T	c.(238-240)tCc>tTc	p.S80F	MAST1_ENST00000591495.1_Missense_Mutation_p.S76F	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						TCGTTTGCCTCCTCCCGAAGG	0.627																																						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.(238-240)tCc>tTc		microtubule associated serine/threonine kinase 1							69.0	72.0	71.0					19																	12951871		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12951871C>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.239C>T	19.37:g.12951871C>T	ENSP00000251472:p.Ser80Phe					MAST1_ENST00000591495.1_Missense_Mutation_p.S76F	p.S80F	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			3	278	+			80						Missense_Mutation	SNP	ENST00000251472.4	37	c.239C>T	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	31	5.089341	0.94149	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.30448	1.53	5.97	5.97	0.96955	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.142017	0.47455	D	0.000222	T	0.48409	0.1498	L	0.40543	1.245	0.58432	D	0.999996	D;D;P	0.69078	0.997;0.976;0.935	D;P;P	0.71656	0.974;0.905;0.847	T	0.37009	-0.9724	10	0.66056	D	0.02	-34.5646	17.9218	0.88969	0.0:1.0:0.0:0.0	.	80;80;80	Q9Y2H9;B4DMN4;F5H2S9	MAST1_HUMAN;.;.	F	80	ENSP00000251472:S80F	ENSP00000251472:S80F	S	+	2	0	MAST1	12812871	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	6.888000	0.75622	2.837000	0.97791	0.655000	0.94253	TCC		0.627	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		4	38	0	0	0	0.014758	0	4	38				
ELN	2006	broad.mit.edu	37	7	73474271	73474271	+	Silent	SNP	T	T	C	rs576324025	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:73474271T>C	ENST00000252034.7	+	23	1869	c.1470T>C	c.(1468-1470)ggT>ggC	p.G490G	CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000380584.4_Silent_p.G457G|ELN_ENST00000320492.7_Silent_p.G409G|ELN_ENST00000429192.1_Silent_p.G476G|ELN_ENST00000458204.1_Silent_p.G480G|ELN_ENST00000357036.5_Silent_p.G495G|ELN_ENST00000445912.1_Silent_p.G490G|ELN_ENST00000414324.1_Silent_p.G466G|ELN_ENST00000358929.4_Silent_p.G525G|ELN_ENST00000380576.5_Silent_p.G471G|ELN_ENST00000320399.6_Silent_p.G490G|ELN_ENST00000380562.4_Silent_p.G496G|ELN_ENST00000380553.4_Silent_p.G354G|ELN_ENST00000380575.4_Silent_p.G461G	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CTGGTGTCGGTGTGGCTCCTG	0.602			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						C|||	2	0.000399361	0.0	0.0	5008	,	,		13429	0.0		0.001	False		,,,				2504	0.001					ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1468-1470)ggT>ggC		elastin	Rofecoxib(DB00533)						213.0	200.0	204.0					7																	73474271		2203	4300	6503	SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474271T>C		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1470T>C	7.37:g.73474271T>C						ELN_ENST00000380562.4_Silent_p.G496G|ELN_ENST00000380575.4_Silent_p.G461G|ELN_ENST00000458204.1_Silent_p.G480G|ELN_ENST00000445912.1_Silent_p.G490G|ELN_ENST00000380576.5_Silent_p.G471G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.G476G|ELN_ENST00000414324.1_Silent_p.G466G|ELN_ENST00000380553.4_Silent_p.G354G|ELN_ENST00000380584.4_Silent_p.G457G|ELN_ENST00000358929.4_Silent_p.G525G|ELN_ENST00000357036.5_Silent_p.G495G|ELN_ENST00000320399.6_Silent_p.G490G|ELN_ENST00000320492.7_Silent_p.G409G	p.G490G	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			23	1869	+		Lung NSC(55;0.159)	519			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	c.1470T>C	CCDS5562.2																																																																																				0.602	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		15	173	0	0	0	0.045515	0	15	173				
TGM5	9333	broad.mit.edu	37	15	43545012	43545012	+	Silent	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:43545012G>C	ENST00000220420.5	-	6	814	c.807C>G	c.(805-807)ggC>ggG	p.G269G	TGM5_ENST00000349114.4_Silent_p.G187G	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	269					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CGGGCTGGCAGCCTGTGGCGT	0.592																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(805-807)ggC>ggG		transglutaminase 5	L-Glutamine(DB00130)						81.0	76.0	78.0					15																	43545012		2202	4299	6501	SO:0001819	synonymous_variant	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43545012G>C	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.807C>G	15.37:g.43545012G>C						TGM5_ENST00000349114.4_Silent_p.G187G	p.G269G	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	6	814	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	269					O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	37	c.807C>G	CCDS32212.1																																																																																				0.592	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		11	51	0	0	0	0.093190	0	11	51				
ISM1	140862	broad.mit.edu	37	20	13279972	13279972	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr20:13279972C>T	ENST00000262487.4	+	6	1267	c.1261C>T	c.(1261-1263)Ctg>Ttg	p.L421L	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	421	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GGTGGACGTCCTGCCCTGGAT	0.622																																						ENST00000262487.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						c.(1261-1263)Ctg>Ttg		isthmin 1, angiogenesis inhibitor							33.0	38.0	36.0					20																	13279972		2113	4235	6348	SO:0001819	synonymous_variant	140862					extracellular region		g.chr20:13279972C>T	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1261C>T	20.37:g.13279972C>T						TASP1_ENST00000539805.1_Intron	p.L421L	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN			6	1267	+			421			AMOP.		Q8WVH9	Silent	SNP	ENST00000262487.4	37	c.1261C>T	CCDS46579.1																																																																																				0.622	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			5	21	0	0	0	0.014758	0	5	21				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																653390							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		4	63	0	0	0	0.021553	0	4	63				
MAP1B	4131	broad.mit.edu	37	5	71491407	71491407	+	Missense_Mutation	SNP	C	C	T	rs570357353	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:71491407C>T	ENST00000296755.7	+	5	2523	c.2225C>T	c.(2224-2226)tCa>tTa	p.S742L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	742	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).				axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GCAAAGAAATCATCTACTCCT	0.393													C|||	3	0.000599042	0.0	0.0	5008	,	,		19167	0.0		0.0	False		,,,				2504	0.0031				Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(2224-2226)tCa>tTa		microtubule-associated protein 1B							62.0	67.0	66.0					5																	71491407		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491407C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2225C>T	5.37:g.71491407C>T	ENSP00000296755:p.Ser742Leu						p.S742L	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	2523	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	742			Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).		A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.2225C>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	0.236	-1.017599	0.02078	.	.	ENSG00000131711	ENST00000296755	T	0.20463	2.07	5.13	2.99	0.34606	.	0.788128	0.11371	N	0.570902	T	0.14184	0.0343	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22277	-1.0221	10	0.27785	T	0.31	1.0794	9.9795	0.41804	0.0:0.7493:0.0:0.2507	.	616;742	A2BDK6;P46821	.;MAP1B_HUMAN	L	742	ENSP00000296755:S742L	ENSP00000296755:S742L	S	+	2	0	MAP1B	71527163	0.001000	0.12720	0.016000	0.15963	0.017000	0.09413	1.472000	0.35376	1.159000	0.42565	-0.253000	0.11424	TCA		0.393	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		8	77	0	0	0	0.047766	0	8	77				
CSNK2B	1460	broad.mit.edu	37	6	31635648	31635648	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:31635648G>C	ENST00000375882.2	+	3	232	c.76G>C	c.(76-78)Gat>Cat	p.D26H	GPANK1_ENST00000375900.4_5'Flank|GPANK1_ENST00000375895.2_5'Flank|CSNK2B_ENST00000375866.2_Missense_Mutation_p.D26H|GPANK1_ENST00000375906.1_5'Flank|GPANK1_ENST00000375896.4_5'Flank|GPANK1_ENST00000375893.2_5'Flank|LY6G5B_ENST00000409525.1_5'Flank|CSNK2B_ENST00000375885.4_Missense_Mutation_p.D45H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.D26H|CSNK2B-LY6G5B-1181_ENST00000375880.2_Missense_Mutation_p.D26H|LY6G5B_ENST00000375864.4_5'Flank	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	26					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						CTGACAGGTGGATGAAGACTA	0.458																																						ENST00000375880.2																			0											c.(76-78)Gat>Cat									107.0	96.0	100.0					6																	31635648		2203	4300	6503	SO:0001583	missense	1460							g.chr6:31635648G>C	M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.76G>C	6.37:g.31635648G>C	ENSP00000365042:p.Asp26His					CSNK2B_ENST00000375885.4_Missense_Mutation_p.D45H|CSNK2B_ENST00000375866.2_Missense_Mutation_p.D26H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.D26H|CSNK2B_ENST00000375882.2_Missense_Mutation_p.D26H	p.D26H							3	194	+								B0UXA9|P07312|P13862|Q4VX47	Missense_Mutation	SNP	ENST00000375882.2	37	c.76G>C	CCDS4712.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769146	0.90020	.	.	ENSG00000204435	ENST00000375885;ENST00000375882;ENST00000375880;ENST00000375865;ENST00000375866	.	.	.	5.64	5.64	0.86602	Casein kinase II, regulatory subunit, alpha-helical (1);	0.049081	0.85682	N	0.000000	D	0.83175	0.5197	M	0.91717	3.235	0.58432	D	0.999997	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.69479	0.936;0.964;0.936	D	0.86601	0.1866	8	0.87932	D	0	-13.207	17.1949	0.86890	0.0:0.0:1.0:0.0	.	26;26;26	B0UXA9;Q5SRQ3;P67870	.;.;CSK2B_HUMAN	H	45;26;26;26;26	.	ENSP00000365025:D26H	D	+	1	0	CSNK2B	31743627	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.013000	0.93629	2.654000	0.90174	0.655000	0.94253	GAT		0.458	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8	NM_001320		13	20	0	0	0	0.093190	0	13	20				
PUS7L	83448	broad.mit.edu	37	12	44130374	44130374	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr12:44130374T>A	ENST00000416848.2	-	7	2023	c.1535A>T	c.(1534-1536)gAg>gTg	p.E512V	PUS7L_ENST00000431332.3_Missense_Mutation_p.E199V|PUS7L_ENST00000551923.1_Missense_Mutation_p.E512V|PUS7L_ENST00000344862.5_Missense_Mutation_p.E512V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	512	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		ACAACCTTCCTCGGTCATGCC	0.448																																						ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1534-1536)gAg>gTg		pseudouridylate synthase 7 homolog (S. cerevisiae)-like							170.0	137.0	148.0					12																	44130374		2203	4300	6503	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44130374T>A	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.1535A>T	12.37:g.44130374T>A	ENSP00000415899:p.Glu512Val					PUS7L_ENST00000344862.5_Missense_Mutation_p.E512V|PUS7L_ENST00000431332.3_Missense_Mutation_p.E199V|PUS7L_ENST00000551923.1_Missense_Mutation_p.E512V	p.E512V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	7	2023	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	512			TRUD.		B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.1535A>T	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410023	0.62399	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000431332	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.02	5.02	0.67125	Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase, TruD, insertion domain (1);	0.450603	0.25701	N	0.028875	T	0.43942	0.1270	M	0.64080	1.96	0.33305	D	0.565335	P	0.36199	0.543	B	0.37198	0.243	T	0.60742	-0.7203	10	0.44086	T	0.13	-20.5551	15.4454	0.75225	0.0:0.0:0.0:1.0	.	512	Q9H0K6	PUS7L_HUMAN	V	512;512;512;199	ENSP00000415899:E512V;ENSP00000343081:E512V;ENSP00000447706:E512V;ENSP00000398497:E199V	ENSP00000343081:E512V	E	-	2	0	PUS7L	42416641	0.691000	0.27709	0.976000	0.42696	0.963000	0.63663	2.920000	0.48844	2.198000	0.70561	0.482000	0.46254	GAG		0.448	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		12	50	0	0	0	0.080935	0	12	50				
PISD	23761	broad.mit.edu	37	22	32017676	32017676	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:32017676G>A	ENST00000439502.2	-	4	740	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L	PISD_ENST00000382151.2_Silent_p.L139L|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000397500.1_Silent_p.L139L|PISD_ENST00000266095.5_Silent_p.L139L|PISD_ENST00000336566.4_Silent_p.L173L			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	173					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGCGGCTTCAGCTTGCGCCGG	0.602																																						ENST00000382151.2																			0				central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12						c.(415-417)Ctg>Ttg		phosphatidylserine decarboxylase	Phosphatidylserine(DB00144)						42.0	41.0	42.0					22																	32017676		2202	4299	6501	SO:0001819	synonymous_variant	23761				phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity	g.chr22:32017676G>A		CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.517C>T	22.37:g.32017676G>A						PISD_ENST00000439502.2_Silent_p.L173L|PISD_ENST00000336566.4_Silent_p.L173L|PISD_ENST00000266095.5_Silent_p.L139L|PISD_ENST00000397500.1_Silent_p.L139L|PISD_ENST00000478893.1_5'UTR	p.L139L			Q9UG56	PISD_HUMAN			4	834	-			173					B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Silent	SNP	ENST00000439502.2	37	c.415C>T																																																																																					0.602	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4			5	29	0	0	0	0.021553	0	5	29				
HAUS8	93323	broad.mit.edu	37	19	17163638	17163638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:17163638C>T	ENST00000253669.5	-	10	1116	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000593360.1_Missense_Mutation_p.R248Q|HAUS8_ENST00000448593.2_Missense_Mutation_p.R308Q			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	309					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						GAGGTACCTTCGGAGCTCAAG	0.527											OREG0025339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000593360.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						c.(742-744)cGa>cAa		HAUS augmin-like complex, subunit 8							164.0	139.0	147.0					19																	17163638		2203	4300	6503	SO:0001583	missense	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17163638C>T	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.926G>A	19.37:g.17163638C>T	ENSP00000253669:p.Arg309Gln		OREG0025339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	715	HAUS8_ENST00000253669.5_Missense_Mutation_p.R309Q|CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000448593.2_Missense_Mutation_p.R308Q	p.R248Q			Q9BT25	HAUS8_HUMAN			9	2761	-			309					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Missense_Mutation	SNP	ENST00000253669.5	37	c.743G>A	CCDS32948.1	.	.	.	.	.	.	.	.	.	.	C	7.729	0.698889	0.15106	.	.	ENSG00000131351	ENST00000253669;ENST00000448593	T;T	0.76186	-1.0;-1.0	4.36	-3.18	0.05186	.	1.373420	0.04743	N	0.423157	T	0.57533	0.2060	L	0.31926	0.97	0.28254	N	0.925111	B;B;B	0.24483	0.038;0.104;0.038	B;B;B	0.13407	0.009;0.009;0.009	T	0.32719	-0.9896	10	0.18710	T	0.47	.	5.2576	0.15555	0.1606:0.1828:0.0:0.6566	.	249;308;309	Q9BT25-2;C9JBZ4;Q9BT25	.;.;HAUS8_HUMAN	Q	309;308	ENSP00000253669:R309Q;ENSP00000395298:R308Q	ENSP00000253669:R309Q	R	-	2	0	HAUS8	17024638	0.111000	0.22076	0.891000	0.34965	0.045000	0.14185	-0.896000	0.04114	-0.730000	0.04869	-0.521000	0.04368	CGA		0.527	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		14	80	0	0	0	0.028581	0	14	80				
FBXO43	286151	broad.mit.edu	37	8	101149817	101149817	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:101149817G>A	ENST00000428847.2	-	3	1966	c.1650C>T	c.(1648-1650)atC>atT	p.I550I		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	550					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TCAGTTGTGTGATATAAAATT	0.303																																						ENST00000428847.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31						c.(1648-1650)atC>atT		F-box protein 43							119.0	110.0	113.0					8																	101149817		1812	4069	5881	SO:0001819	synonymous_variant	286151				meiosis		zinc ion binding	g.chr8:101149817G>A	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1650C>T	8.37:g.101149817G>A							p.I550I	NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		3	1966	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		550						Silent	SNP	ENST00000428847.2	37	c.1650C>T	CCDS47904.1																																																																																				0.303	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		17	20	0	0	0	0.033300	0	17	20				
ZFAT	57623	broad.mit.edu	37	8	135620985	135620985	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:135620985T>C	ENST00000377838.3	-	5	946	c.772A>G	c.(772-774)Atg>Gtg	p.M258V	ZFAT_ENST00000520727.1_Missense_Mutation_p.M246V|ZFAT_ENST00000429442.2_Missense_Mutation_p.M246V|ZFAT_ENST00000520214.1_Missense_Mutation_p.M246V|ZFAT_ENST00000520356.1_Missense_Mutation_p.M246V|ZFAT_ENST00000523399.1_Missense_Mutation_p.M196V	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	258					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTTGACTTCATTGGTTGCTCA	0.483																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(736-738)Atg>Gtg		zinc finger and AT hook domain containing							137.0	132.0	134.0					8																	135620985		1990	4163	6153	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135620985T>C	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.772A>G	8.37:g.135620985T>C	ENSP00000367069:p.Met258Val					ZFAT_ENST00000429442.2_Missense_Mutation_p.M246V|ZFAT_ENST00000523399.1_Missense_Mutation_p.M196V|ZFAT_ENST00000520214.1_Missense_Mutation_p.M246V|ZFAT_ENST00000377838.3_Missense_Mutation_p.M258V|ZFAT_ENST00000520356.1_Missense_Mutation_p.M246V	p.M246V	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		6	1035	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		258					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.736A>G	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.176661	0.38413	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946;ENST00000522257	T;T;T;T;T;T;T	0.47177	3.1;3.03;3.04;3.02;3.03;3.08;0.85	5.94	5.94	0.96194	.	0.102441	0.64402	D	0.000005	T	0.35537	0.0935	N	0.19112	0.55	0.33921	D	0.640908	B;B;P;P	0.42871	0.373;0.214;0.792;0.524	B;B;B;B	0.38264	0.037;0.056;0.269;0.095	T	0.55159	-0.8184	10	0.66056	D	0.02	-43.9821	15.579	0.76418	0.0:0.0:0.0:1.0	.	196;246;246;258	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	V	246;246;246;258;246;246;196;246;196	ENSP00000427879:M246V;ENSP00000427831:M246V;ENSP00000394501:M246V;ENSP00000367069:M258V;ENSP00000428483:M246V;ENSP00000429091:M196V;ENSP00000429983:M196V	ENSP00000326997:M246V	M	-	1	0	ZFAT	135690167	1.000000	0.71417	0.986000	0.45419	0.838000	0.47535	4.326000	0.59241	2.279000	0.76181	0.459000	0.35465	ATG		0.483	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		52	42	0	0	0	0.048971	0	52	42				
EIF4B	1975	broad.mit.edu	37	12	53410391	53410391	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr12:53410391G>C	ENST00000262056.9	+	2	474	c.148G>C	c.(148-150)Gat>Cat	p.D50H	RP11-983P16.2_ENST00000435621.3_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.D50H|EIF4B_ENST00000416762.3_Missense_Mutation_p.D50H|RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000551527.1_3'UTR	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	50					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CCTGGAAGGAGATGGTAACTT	0.403																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(148-150)Gat>Cat		eukaryotic translation initiation factor 4B							148.0	146.0	147.0					12																	53410391		1866	4098	5964	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53410391G>C	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.148G>C	12.37:g.53410391G>C	ENSP00000262056:p.Asp50His					RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.D50H|RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.D50H|EIF4B_ENST00000551527.1_3'UTR	p.D50H	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN			2	474	+			50					Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.148G>C	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624182	0.28889	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51	4.65	3.76	0.43208	.	0.102956	0.64402	D	0.000005	D	0.95909	0.8668	M	0.77616	2.38	0.52501	D	0.99995	D;D;D	0.69078	0.995;0.997;0.997	P;P;P	0.57468	0.821;0.667;0.667	D	0.95703	0.8751	10	0.62326	D	0.03	.	12.2877	0.54800	0.0857:0.0:0.9143:0.0	.	50;50;50	B4DS13;E7EX17;P23588	.;.;IF4B_HUMAN	H	50	ENSP00000262056:D50H;ENSP00000388806:D50H;ENSP00000412530:D50H;ENSP00000449746:D50H;ENSP00000450324:D50H	ENSP00000262056:D50H	D	+	1	0	EIF4B	51696658	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	9.512000	0.98008	1.266000	0.44231	-0.258000	0.10820	GAT		0.403	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		11	52	0	0	0	0.105934	0	11	52				
TBC1D10C	374403	broad.mit.edu	37	11	67172899	67172899	+	Silent	SNP	G	G	A	rs200017820		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:67172899G>A	ENST00000542590.1	+	3	296	c.282G>A	c.(280-282)ccG>ccA	p.P94P	TBC1D10C_ENST00000312390.5_Silent_p.P94P|TBC1D10C_ENST00000526387.1_Silent_p.P94P			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	94	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AAGGCATCCCGTCTGCCCTGC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		18285	0.0		0.001	False		,,,				2504	0.0					ENST00000312390.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16						c.(280-282)ccG>ccA		TBC1 domain family, member 10C		G		0,4400		0,0,2200	49.0	45.0	47.0		282	-3.0	0.7	11		47	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	TBC1D10C	NM_198517.2		0,1,6494	AA,AG,GG		0.0116,0.0,0.0077		94/447	67172899	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	374403					intracellular	Rab GTPase activator activity	g.chr11:67172899G>A	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.282G>A	11.37:g.67172899G>A						TBC1D10C_ENST00000526387.1_Silent_p.P94P|TBC1D10C_ENST00000542590.1_Silent_p.P94P	p.P94P	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		4	311	+			94			Rab-GAP TBC.		G3V1D6	Silent	SNP	ENST00000542590.1	37	c.282G>A	CCDS8162.1																																																																																				0.657	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		13	38	0	0	0	0.020292	0	13	38				
PUS7L	83448	broad.mit.edu	37	12	44148848	44148848	+	Silent	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr12:44148848A>G	ENST00000416848.2	-	2	689	c.201T>C	c.(199-201)ttT>ttC	p.F67F	PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000551923.1_Silent_p.F67F|PUS7L_ENST00000344862.5_Silent_p.F67F|PUS7L_ENST00000553166.1_Silent_p.F67F	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	67					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GTTTTTTGGGAAAATTATTTG	0.323																																						ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(199-201)ttT>ttC		pseudouridylate synthase 7 homolog (S. cerevisiae)-like							116.0	112.0	113.0					12																	44148848		2203	4300	6503	SO:0001819	synonymous_variant	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148848A>G	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.201T>C	12.37:g.44148848A>G						PUS7L_ENST00000344862.5_Silent_p.F67F|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Silent_p.F67F|PUS7L_ENST00000551923.1_Silent_p.F67F	p.F67F	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	689	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	67					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Silent	SNP	ENST00000416848.2	37	c.201T>C	CCDS8743.1																																																																																				0.323	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		4	52	0	0	0	0.014758	0	4	52				
EMR3	84658	broad.mit.edu	37	19	14752358	14752358	+	Missense_Mutation	SNP	G	G	T	rs146538980	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:14752358G>T	ENST00000253673.5	-	10	1221	c.1121C>A	c.(1120-1122)gCg>gAg	p.A374E	EMR3_ENST00000344373.4_Missense_Mutation_p.A322E|EMR3_ENST00000443157.2_Missense_Mutation_p.A248E|EMR3_ENST00000599900.1_Missense_Mutation_p.A159E	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	374					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGTGAGGGCCGCCAGGAGGAG	0.582																																						ENST00000253673.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1120-1122)gCg>gAg		egf-like module containing, mucin-like, hormone receptor-like 3							79.0	67.0	71.0					19																	14752358		2203	4299	6502	SO:0001583	missense	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14752358G>T	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1121C>A	19.37:g.14752358G>T	ENSP00000253673:p.Ala374Glu					EMR3_ENST00000599900.1_Missense_Mutation_p.A159E|EMR3_ENST00000443157.2_Missense_Mutation_p.A248E|EMR3_ENST00000344373.4_Missense_Mutation_p.A322E	p.A374E	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN			10	1221	-			374						Missense_Mutation	SNP	ENST00000253673.5	37	c.1121C>A	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.221922	0.58560	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.38401	1.14;1.14;1.14	3.68	3.68	0.42216	GPCR, family 2-like (1);	.	.	.	.	T	0.68421	0.2999	M	0.94101	3.495	0.22050	N	0.999397	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.62253	-0.6893	9	0.87932	D	0	.	12.9483	0.58386	0.0:0.0:1.0:0.0	.	248;322;374	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	E	248;374;322	ENSP00000396208:A248E;ENSP00000253673:A374E;ENSP00000340758:A322E	ENSP00000253673:A374E	A	-	2	0	EMR3	14613358	0.384000	0.25164	0.969000	0.41365	0.759000	0.43091	2.649000	0.46656	1.895000	0.54865	0.561000	0.74099	GCG		0.582	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		8	37	1	0	2.17888e-05	0.058154	2.35878e-05	8	37				
ADCK3	56997	broad.mit.edu	37	1	227169739	227169739	+	Missense_Mutation	SNP	G	G	A	rs148376283		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:227169739G>A	ENST00000366779.1	+	11	3513	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000433743.2_5'UTR|ADCK3_ENST00000366778.1_Missense_Mutation_p.V196M|ADCK3_ENST00000366777.3_Missense_Mutation_p.V248M|ADCK3_ENST00000458507.2_5'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	248					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GAAGAAGGCCGTGCTGGGTTC	0.652																																						ENST00000366779.1																			0				endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						c.(742-744)Gtg>Atg		aarF domain containing kinase 3		G	MET/VAL	0,4406		0,0,2203	47.0	46.0	47.0		742	3.2	0.9	1	dbSNP_134	47	2,8598	2.2+/-6.3	0,2,4298	no	missense	ADCK3	NM_020247.4	21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	248/648	227169739	2,13004	2203	4300	6503	SO:0001583	missense	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227169739G>A	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.742G>A	1.37:g.227169739G>A	ENSP00000355741:p.Val248Met					ADCK3_ENST00000458507.2_5'UTR|ADCK3_ENST00000366775.1_Missense_Mutation_p.V93M|ADCK3_ENST00000366777.3_Missense_Mutation_p.V248M|ADCK3_ENST00000433743.2_5'UTR|ADCK3_ENST00000366778.1_Missense_Mutation_p.V196M|ADCK3_ENST00000366776.1_Missense_Mutation_p.V173M|ADCK3_ENST00000478406.1_3'UTR	p.V248M			Q8NI60	ADCK3_HUMAN			11	3513	+			248					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	ENST00000366779.1	37	c.742G>A	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	G	9.740	1.164511	0.21538	0.0	2.33E-4	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000366775;ENST00000405743	T;T;T;T;T	0.74842	-0.74;-0.71;-0.74;-0.88;-0.86	5.1	3.2	0.36748	.	0.062433	0.64402	D	0.000004	T	0.67277	0.2876	L	0.54323	1.7	0.58432	D	0.999997	B	0.19445	0.036	B	0.17433	0.018	T	0.65557	-0.6139	10	0.49607	T	0.09	-37.4575	10.115	0.42585	0.2204:0.0:0.7796:0.0	.	248	Q8NI60	ADCK3_HUMAN	M	248;196;248;173;93;199	ENSP00000355741:V248M;ENSP00000355740:V196M;ENSP00000355739:V248M;ENSP00000355738:V173M;ENSP00000355737:V93M	ENSP00000355737:V93M	V	+	1	0	ADCK3	225236362	0.657000	0.27393	0.866000	0.34008	0.072000	0.16883	0.945000	0.29056	1.155000	0.42497	-0.339000	0.08088	GTG		0.652	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247		29	36	0	0	0	0.037714	0	29	36				
IL12A-AS1	101928376	broad.mit.edu	37	3	159819580	159819580	+	RNA	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:159819580G>A	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		CATCTTGACCGCATTGTGAAG	0.433																																						ENST00000497452.1																			0																																																			101928376							g.chr3:159819580G>A	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159819580G>A														0	517	-									RNA	SNP	ENST00000497452.1	37																																																																																						0.433	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			37	154	0	0	0	0.086207	0	37	154				
PCK1	5105	broad.mit.edu	37	20	56137828	56137828	+	Silent	SNP	G	G	A	rs530695277		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr20:56137828G>A	ENST00000319441.4	+	4	647	c.483G>A	c.(481-483)acG>acA	p.T161T	PCK1_ENST00000535860.1_Silent_p.T29T|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	161					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCGAGCTGACGGATTCACCCT	0.612													g|||	1	0.000199681	0.0008	0.0	5008	,	,		17188	0.0		0.0	False		,,,				2504	0.0					ENST00000319441.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34						c.(481-483)acG>acA		phosphoenolpyruvate carboxykinase 1 (soluble)							73.0	61.0	65.0					20																	56137828		2203	4300	6503	SO:0001819	synonymous_variant	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56137828G>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.483G>A	20.37:g.56137828G>A						PCK1_ENST00000535860.1_Silent_p.T29T|PCK1_ENST00000543666.1_Intron	p.T161T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		4	647	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		161					A8K437|B4DT64|Q8TCA3|Q9UJD2	Silent	SNP	ENST00000319441.4	37	c.483G>A	CCDS13460.1																																																																																				0.612	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			4	46	0	0	0	0.009096	0	4	46				
TTC27	55622	broad.mit.edu	37	2	33012122	33012122	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:33012122A>G	ENST00000317907.4	+	16	2135	c.1904A>G	c.(1903-1905)tAc>tGc	p.Y635C		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	635										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TGGGAAAACTACATCCTCACC	0.393																																						ENST00000317907.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1903-1905)tAc>tGc		tetratricopeptide repeat domain 27							96.0	93.0	94.0					2																	33012122		2203	4300	6503	SO:0001583	missense	55622						protein binding	g.chr2:33012122A>G	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.1904A>G	2.37:g.33012122A>G	ENSP00000313953:p.Tyr635Cys						p.Y635C	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN			16	2135	+			635					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	c.1904A>G	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374262	0.61735	.	.	ENSG00000018699	ENST00000317907	T	0.38240	1.15	4.84	4.84	0.62591	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.176037	0.50627	D	0.000102	T	0.61261	0.2333	M	0.80422	2.495	0.58432	D	0.999995	D	0.89917	1.0	D	0.71414	0.973	T	0.67381	-0.5685	10	0.66056	D	0.02	-8.0425	14.7447	0.69483	1.0:0.0:0.0:0.0	.	635	Q6P3X3	TTC27_HUMAN	C	635	ENSP00000313953:Y635C	ENSP00000313953:Y635C	Y	+	2	0	TTC27	32865626	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.795000	0.69074	1.954000	0.56735	0.482000	0.46254	TAC		0.393	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		11	50	0	0	0	0.069234	0	11	50				
MTA2	9219	broad.mit.edu	37	11	62361790	62361790	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:62361790C>G	ENST00000278823.2	-	17	2171	c.1782G>C	c.(1780-1782)caG>caC	p.Q594H	MIR3654_ENST00000496634.2_5'Flank|MTA2_ENST00000524902.1_Missense_Mutation_p.Q421H|TUT1_ENST00000308436.7_5'Flank|TUT1_ENST00000476907.1_5'Flank|MTA2_ENST00000527204.1_Missense_Mutation_p.Q421H	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	594					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GGTTTAGTTTCTGACGCTTGG	0.567																																						ENST00000278823.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						c.(1780-1782)caG>caC		metastasis associated 1 family, member 2							79.0	71.0	74.0					11																	62361790		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62361790C>G	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1782G>C	11.37:g.62361790C>G	ENSP00000278823:p.Gln594His					MTA2_ENST00000524902.1_Missense_Mutation_p.Q421H|MTA2_ENST00000527204.1_Missense_Mutation_p.Q421H	p.Q594H	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN			17	2171	-			594					Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.1782G>C	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535676	0.64972	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.50548	1.35;0.74;0.74	5.79	3.94	0.45596	.	0.055071	0.85682	D	0.000000	T	0.43366	0.1244	L	0.60455	1.87	0.58432	D	0.999999	P	0.50943	0.94	B	0.41571	0.36	T	0.37407	-0.9707	10	0.48119	T	0.1	-23.9764	10.7909	0.46432	0.0:0.8465:0.0:0.1535	.	594	O94776	MTA2_HUMAN	H	594;421;421	ENSP00000278823:Q594H;ENSP00000431346:Q421H;ENSP00000431797:Q421H	ENSP00000278823:Q594H	Q	-	3	2	MTA2	62118366	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.757000	0.47557	0.806000	0.34183	-0.812000	0.03155	CAG		0.567	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		8	49	0	0	0	0.047766	0	8	49				
UBR5	51366	broad.mit.edu	37	8	103309160	103309160	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:103309160G>A	ENST00000520539.1	-	28	4232	c.3626C>T	c.(3625-3627)aCg>aTg	p.T1209M	UBR5_ENST00000220959.4_Missense_Mutation_p.T1209M|UBR5_ENST00000521922.1_Missense_Mutation_p.T1203M	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1209					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)			TGCACATTCCGTACAACAACA	0.318																																					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.(3625-3627)aCg>aTg		ubiquitin protein ligase E3 component n-recognin 5							70.0	69.0	69.0					8																	103309160		2203	4300	6503	SO:0001583	missense	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.chr8:103309160G>A	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.3626C>T	8.37:g.103309160G>A	ENSP00000429084:p.Thr1209Met					UBR5_ENST00000220959.4_Missense_Mutation_p.T1209M|UBR5_ENST00000521922.1_Missense_Mutation_p.T1203M	p.T1209M	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		28	4232	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1209					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.3626C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018014	0.93404	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	D;D;D	0.82803	-1.65;-1.65;-1.65	5.66	5.66	0.87406	Zinc finger, N-recognin, metazoa (1);Zinc finger, N-recognin (2);	0.105732	0.64402	D	0.000006	D	0.91713	0.7380	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.91858	0.5497	10	0.87932	D	0	.	20.1225	0.97967	0.0:0.0:1.0:0.0	.	1203;1209	E7EMW7;O95071	.;UBR5_HUMAN	M	1209;1209;1203	ENSP00000429084:T1209M;ENSP00000220959:T1209M;ENSP00000427819:T1203M	ENSP00000220959:T1209M	T	-	2	0	UBR5	103378336	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.567000	0.98161	2.831000	0.97527	0.650000	0.86243	ACG		0.318	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		4	33	0	0	0	0.014758	0	4	33				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	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			5	32	0	0	0	0.014758	0	5	32				
PSD4	23550	broad.mit.edu	37	2	113942946	113942946	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:113942946C>T	ENST00000245796.6	+	4	1373	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F	PSD4_ENST00000441564.3_Missense_Mutation_p.S393F	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	393					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAACAGGCCTCTCTCAGCCCT	0.587																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1177-1179)tCt>tTt		pleckstrin and Sec7 domain containing 4							93.0	98.0	97.0					2																	113942946		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113942946C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1178C>T	2.37:g.113942946C>T	ENSP00000245796:p.Ser393Phe					PSD4_ENST00000441564.2_Missense_Mutation_p.S393F	p.S393F	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			4	1373	+			393					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.1178C>T	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	C	9.286	1.049509	0.19827	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.14144	2.73;2.53	3.63	-2.68	0.06041	.	8.968620	0.00166	N	0.000000	T	0.07954	0.0199	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.24083	-1.0170	10	0.34782	T	0.22	.	0.9654	0.01404	0.1719:0.1862:0.1718:0.4702	.	393;393	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	F	393	ENSP00000245796:S393F;ENSP00000413997:S393F	ENSP00000245796:S393F	S	+	2	0	PSD4	113659417	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.983000	0.03759	-0.544000	0.06232	-0.244000	0.11960	TCT		0.587	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		21	90	0	0	0	0.083992	0	21	90				
HELZ2	85441	broad.mit.edu	37	20	62192986	62192986	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr20:62192986G>A	ENST00000467148.1	-	12	6873	c.6804C>T	c.(6802-6804)agC>agT	p.S2268S	HELZ2_ENST00000427522.2_Silent_p.S1699S	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2268	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CCTCCCGGGGGCTCTTCCTGA	0.657																																						ENST00000467148.1																			0											c.(6802-6804)agC>agT		helicase with zinc finger 2, transcriptional coactivator							54.0	64.0	60.0					20																	62192986		2203	4296	6499	SO:0001819	synonymous_variant	85441							g.chr20:62192986G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6804C>T	20.37:g.62192986G>A						HELZ2_ENST00000427522.2_Silent_p.S1699S	p.S2268S	NM_001037335.2	NP_001032412.2					12	6873	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.6804C>T	CCDS33508.1																																																																																				0.657	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		42	62	0	0	0	0.086207	0	42	62				
MVP	9961	broad.mit.edu	37	16	29851704	29851704	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr16:29851704A>G	ENST00000357402.5	+	8	1253	c.1115A>G	c.(1114-1116)gAg>gGg	p.E372G	MVP_ENST00000395353.1_Missense_Mutation_p.E372G|MVP_ENST00000452209.2_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	372					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCCAAAGTGGAGGTGGTGGAG	0.612																																						ENST00000357402.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						c.(1114-1116)gAg>gGg		major vault protein							34.0	27.0	30.0					16																	29851704		2195	4300	6495	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29851704A>G	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1115A>G	16.37:g.29851704A>G	ENSP00000349977:p.Glu372Gly					MVP_ENST00000452209.2_3'UTR|MVP_ENST00000395353.1_Missense_Mutation_p.E372G	p.E372G	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN			8	1253	+			372					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.1115A>G	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	a	19.14	3.769253	0.69992	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.34859	1.34;1.34	5.37	5.37	0.77165	.	0.098023	0.64402	D	0.000002	T	0.43875	0.1267	M	0.86178	2.8	0.80722	D	1	P	0.44986	0.847	B	0.39185	0.293	T	0.54990	-0.8210	10	0.56958	D	0.05	-11.2743	13.33	0.60480	1.0:0.0:0.0:0.0	.	372	Q14764	MVP_HUMAN	G	372	ENSP00000349977:E372G;ENSP00000378760:E372G	ENSP00000349977:E372G	E	+	2	0	MVP	29759205	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.414000	0.59802	2.048000	0.60808	0.456000	0.33151	GAG		0.612	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		2	8	0	0	0	0.004672	0	2	8				
FAM63B	54629	broad.mit.edu	37	15	59064131	59064131	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr15:59064131C>T	ENST00000559228.1	+	1	619	c.537C>T	c.(535-537)ttC>ttT	p.F179F	FAM63B_ENST00000450403.2_Silent_p.F179F|RP11-30K9.6_ENST00000500929.2_lincRNA			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	179										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TGGAGTCGTTCTCTAACCTGC	0.647																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(535-537)ttC>ttT		family with sequence similarity 63, member B							26.0	27.0	27.0					15																	59064131		1887	4109	5996	SO:0001819	synonymous_variant	54629							g.chr15:59064131C>T	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.537C>T	15.37:g.59064131C>T						FAM63B_ENST00000450403.2_Silent_p.F179F	p.F179F			Q8NBR6	FA63B_HUMAN			1	619	+			179					B2RTT8|Q9ULQ6	Silent	SNP	ENST00000559228.1	37	c.537C>T	CCDS42046.1																																																																																				0.647	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		11	19	0	0	0	0.080935	0	11	19				
ANXA9	8416	broad.mit.edu	37	1	150967079	150967079	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:150967079G>A	ENST00000368947.4	+	13	1355	c.879G>A	c.(877-879)ctG>ctA	p.L293L		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	293					single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACCAAGTCCTGATTCGCATCC	0.483																																						ENST00000368947.4																			0				endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8						c.(877-879)ctG>ctA		annexin A9							206.0	190.0	196.0					1																	150967079		2203	4300	6503	SO:0001819	synonymous_variant	8416				cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity	g.chr1:150967079G>A	AJ009985	CCDS975.2	1q21.2	2008-02-05			ENSG00000143412	ENSG00000143412		"""Annexins"""	547	protein-coding gene	gene with protein product		603319		ANX31		9742942, 9931420	Standard	NM_003568		Approved		uc001ewa.2	O76027	OTTHUMG00000035063	ENST00000368947.4:c.879G>A	1.37:g.150967079G>A							p.L293L	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		13	1355	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		293					Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6	Silent	SNP	ENST00000368947.4	37	c.879G>A	CCDS975.2																																																																																				0.483	ANXA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084895.2	NM_003568		12	149	0	0	0	0.105934	0	12	149				
TTN	7273	broad.mit.edu	37	2	179451387	179451387	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr2:179451387C>T	ENST00000591111.1	-	258	59542	c.59318G>A	c.(59317-59319)cGc>cAc	p.R19773H	TTN_ENST00000342175.6_Missense_Mutation_p.R12541H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12474H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12349H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R21414H|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18846H			Q8WZ42	TITIN_HUMAN	titin	19773	Fibronectin type-III 43. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CTCTGTCCAGCGATCTGCAGG	0.468																																						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.(64240-64242)cGc>cAc		titin							155.0	152.0	153.0					2																	179451387		1958	4174	6132	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179451387C>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.59318G>A	2.37:g.179451387C>T	ENSP00000465570:p.Arg19773His					TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18846H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19773H|TTN_ENST00000359218.5_Missense_Mutation_p.R12474H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12349H|TTN_ENST00000342175.6_Missense_Mutation_p.R12541H	p.R21414H	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)		308	64465	-			19773			Fibronectin type-III 55.		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.64241G>A		.	.	.	.	.	.	.	.	.	.	C	19.70	3.877176	0.72180	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	6.07	5.19	0.71726	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41373	0.1156	L	0.28608	0.87	0.32597	N	0.526371	B;B;B;B	0.14012	0.009;0.009;0.009;0.009	B;B;B;B	0.15484	0.013;0.013;0.013;0.013	T	0.51490	-0.8699	9	0.87932	D	0	.	9.9076	0.41386	0.0:0.7955:0.0:0.2045	.	12349;12474;12541;19773	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	18846;12349;12541;12474;12347	ENSP00000343764:R18846H;ENSP00000434586:R12349H;ENSP00000340554:R12541H;ENSP00000352154:R12474H	ENSP00000340554:R12541H	R	-	2	0	TTN	179159633	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.331000	0.33793	1.569000	0.49696	0.655000	0.94253	CGC		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	73	0	0	0	0.091800	0	26	73				
HPX	3263	broad.mit.edu	37	11	6452604	6452604	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:6452604A>G	ENST00000265983.3	-	10	1326	c.1226T>C	c.(1225-1227)aTg>aCg	p.M409T		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	409					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GGACTTTTCCATACACAAGGC	0.562																																						ENST00000265983.3																			0				endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15						c.(1225-1227)aTg>aCg		hemopexin							159.0	142.0	148.0					11																	6452604		2201	4296	6497	SO:0001583	missense	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6452604A>G	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1226T>C	11.37:g.6452604A>G	ENSP00000265983:p.Met409Thr						p.M409T	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	10	1326	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	409					B2R957	Missense_Mutation	SNP	ENST00000265983.3	37	c.1226T>C	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	A	0.077	-1.190319	0.01607	.	.	ENSG00000110169	ENST00000265983	T	0.06849	3.25	4.25	-0.862	0.10673	Hemopexin/matrixin (2);	2.809100	0.00633	N	0.000483	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37056	-0.9722	10	0.21014	T	0.42	6.2152	7.5366	0.27714	0.5434:0.0:0.4566:0.0	.	409	P02790	HEMO_HUMAN	T	409	ENSP00000265983:M409T	ENSP00000265983:M409T	M	-	2	0	HPX	6409180	0.000000	0.05858	0.000000	0.03702	0.939000	0.58152	-0.090000	0.11163	-0.144000	0.11314	0.459000	0.35465	ATG		0.562	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		15	34	0	0	0	0.028581	0	15	34				
ELN	2006	broad.mit.edu	37	7	73474265	73474265	+	Silent	SNP	T	T	A	rs199944074		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:73474265T>A	ENST00000252034.7	+	23	1863	c.1464T>A	c.(1462-1464)ggT>ggA	p.G488G	CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000380584.4_Silent_p.G455G|ELN_ENST00000320492.7_Silent_p.G407G|ELN_ENST00000429192.1_Silent_p.G474G|ELN_ENST00000458204.1_Silent_p.G478G|ELN_ENST00000357036.5_Silent_p.G493G|ELN_ENST00000445912.1_Silent_p.G488G|ELN_ENST00000414324.1_Silent_p.G464G|ELN_ENST00000358929.4_Silent_p.G523G|ELN_ENST00000380576.5_Silent_p.G469G|ELN_ENST00000320399.6_Silent_p.G488G|ELN_ENST00000380562.4_Silent_p.G494G|ELN_ENST00000380553.4_Silent_p.G352G|ELN_ENST00000380575.4_Silent_p.G459G	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TGGCTCCTGGTGTCGGTGTGG	0.602			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						T|||	1	0.000199681	0.0	0.0	5008	,	,		13855	0.0		0.0	False		,,,				2504	0.001					ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1462-1464)ggT>ggA		elastin	Rofecoxib(DB00533)																																			SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474265T>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1464T>A	7.37:g.73474265T>A						ELN_ENST00000380562.4_Silent_p.G494G|ELN_ENST00000380575.4_Silent_p.G459G|ELN_ENST00000458204.1_Silent_p.G478G|ELN_ENST00000445912.1_Silent_p.G488G|ELN_ENST00000380576.5_Silent_p.G469G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.G474G|ELN_ENST00000414324.1_Silent_p.G464G|ELN_ENST00000380553.4_Silent_p.G352G|ELN_ENST00000380584.4_Silent_p.G455G|ELN_ENST00000358929.4_Silent_p.G523G|ELN_ENST00000357036.5_Silent_p.G493G|ELN_ENST00000320399.6_Silent_p.G488G|ELN_ENST00000320492.7_Silent_p.G407G	p.G488G	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			23	1863	+		Lung NSC(55;0.159)	517			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	c.1464T>A	CCDS5562.2																																																																																				0.602	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		9	174	0	0	0	0.108266	0	9	174				
PCDHA7	56141	broad.mit.edu	37	5	140215474	140215474	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr5:140215474C>T	ENST00000525929.1	+	1	1506	c.1506C>T	c.(1504-1506)cgC>cgT	p.R502R	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.R502R|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	502	Cadherin 5. {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(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGAGCGCGCGCTGTCGA	0.677																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1504-1506)cgC>cgT									64.0	68.0	67.0					5																	140215474		2203	4297	6500	SO:0001819	synonymous_variant	56141							g.chr5:140215474C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1506C>T	5.37:g.140215474C>T						PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Silent_p.R502R|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron	p.R502R	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1506	+								O75282	Silent	SNP	ENST00000525929.1	37	c.1506C>T	CCDS54918.1																																																																																				0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		13	79	0	0	0	0.024245	0	13	79				
CR1	1378	broad.mit.edu	37	1	207793408	207793408	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:207793408C>G	ENST00000367049.4	+	43	7250	c.7250C>G	c.(7249-7251)tCt>tGt	p.S2417C	CR1_ENST00000367053.1_Missense_Mutation_p.S1967C|CR1_ENST00000400960.2_Missense_Mutation_p.S1967C|CR1_ENST00000367051.1_Missense_Mutation_p.S1967C|CR1_ENST00000367052.1_Missense_Mutation_p.S1967C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1967					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAATGTACCTCTCGTAAGTGC	0.493											OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(7249-7251)tCt>tGt		complement component (3b/4b) receptor 1 (Knops blood group)							84.0	90.0	88.0					1																	207793408		2100	4256	6356	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207793408C>G	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.7250C>G	1.37:g.207793408C>G	ENSP00000356016:p.Ser2417Cys		OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2170	CR1_ENST00000367051.1_Missense_Mutation_p.S1967C|CR1_ENST00000367053.1_Missense_Mutation_p.S1967C|CR1_ENST00000400960.2_Missense_Mutation_p.S1967C|CR1_ENST00000367052.1_Missense_Mutation_p.S1967C	p.S2417C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			43	7250	+			1967					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.7250C>G	CCDS44308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.75|18.75	3.691148|3.691148	0.68271|0.68271	.|.	.|.	ENSG00000203710|ENSG00000203710	ENST00000529814|ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.|T;T;T;T;T	.|0.74315	.|-0.83;-0.83;-0.83;-0.83;-0.83	4.6|4.6	4.6|4.6	0.57074|0.57074	.|Sushi/SCR/CCP (1);	.|.	.|.	.|.	.|.	D|D	0.87269|0.87269	0.6135|0.6135	M|M	0.86740|0.86740	2.835|2.835	0.09310|0.09310	N|N	1|1	.|B;D	.|0.89917	.|0.438;1.0	.|P;D	.|0.83275	.|0.524;0.996	T|T	0.78718|0.78718	-0.2095|-0.2095	5|9	.|0.59425	.|D	.|0.04	.|.	13.1685|13.1685	0.59585|0.59585	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1967;2417	.|P17927;E9PDY4	.|CR1_HUMAN;.	V|C	590|1967;1967;1967;1967;2417	.|ENSP00000356019:S1967C;ENSP00000356018:S1967C;ENSP00000356020:S1967C;ENSP00000383744:S1967C;ENSP00000356016:S2417C	.|ENSP00000356016:S2417C	L|S	+|+	1|2	0|0	CR1|CR1	205860031|205860031	0.001000|0.001000	0.12720|0.12720	0.007000|0.007000	0.13788|0.13788	0.512000|0.512000	0.34134|0.34134	1.087000|1.087000	0.30865|0.30865	2.543000|2.543000	0.85770|0.85770	0.650000|0.650000	0.86243|0.86243	CTC|TCT		0.493	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		4	14	0	0	0	0.009096	0	4	14				
DNAH8	1769	broad.mit.edu	37	6	38704881	38704881	+	Silent	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr6:38704881C>G	ENST00000359357.3	+	4	404	c.150C>G	c.(148-150)ctC>ctG	p.L50L	DNAH8_ENST00000441566.1_Silent_p.L50L|DNAH8_ENST00000449981.2_Silent_p.L267L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	50					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						CGAAAGGACTCTTAAATGGAA	0.398																																						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.(148-150)ctC>ctG		dynein, axonemal, heavy chain 8							106.0	105.0	105.0					6																	38704881		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38704881C>G	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.150C>G	6.37:g.38704881C>G						DNAH8_ENST00000441566.1_Silent_p.L50L|DNAH8_ENST00000449981.2_Silent_p.L267L	p.L50L							4	404	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.150C>G																																																																																					0.398	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		5	83	0	0	0	0.029380	0	5	83				
ACO1	48	broad.mit.edu	37	9	32423392	32423392	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:32423392C>T	ENST00000309951.6	+	9	1184	c.1046C>T	c.(1045-1047)cCt>cTt	p.P349L	ACO1_ENST00000541043.1_Missense_Mutation_p.P250L|ACO1_ENST00000379923.1_Missense_Mutation_p.P349L	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	349					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTCAATGACCCTTCTCAAGAC	0.398																																						ENST00000379923.1																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(1045-1047)cCt>cTt		aconitase 1, soluble							117.0	113.0	114.0					9																	32423392		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32423392C>T	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.1046C>T	9.37:g.32423392C>T	ENSP00000309477:p.Pro349Leu					ACO1_ENST00000541043.1_Missense_Mutation_p.P250L|ACO1_ENST00000309951.5_Missense_Mutation_p.P349L	p.P349L	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	10	1252	+			349					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.1046C>T	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261284	0.39995	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.18960	2.18;2.18;2.18	6.17	4.33	0.51752	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.697247	0.15627	N	0.252613	T	0.20740	0.0499	L	0.43152	1.355	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.16722	0.009;0.016	T	0.18366	-1.0339	10	0.87932	D	0	2.1851	11.4911	0.50381	0.0:0.8057:0.126:0.0683	.	385;349	Q59FI0;P21399	.;ACOC_HUMAN	L	385;349;349;349;250	ENSP00000309477:P349L;ENSP00000369255:P349L;ENSP00000438733:P250L	ENSP00000309477:P349L	P	+	2	0	ACO1	32413392	0.002000	0.14202	0.137000	0.22149	0.994000	0.84299	1.858000	0.39408	0.923000	0.37045	0.655000	0.94253	CCT		0.398	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		6	43	0	0	0	0.029380	0	6	43				
GPR4	2828	broad.mit.edu	37	19	46094975	46094975	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr19:46094975G>A	ENST00000323040.4	-	2	1094	c.150C>T	c.(148-150)aaC>aaT	p.N50N	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	50					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCCCAGCTCGTTGCGCTGTT	0.617																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	ENST00000323040.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(148-150)aaC>aaT		G protein-coupled receptor 4							87.0	70.0	76.0					19																	46094975		2203	4300	6503	SO:0001819	synonymous_variant	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094975G>A	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.150C>T	19.37:g.46094975G>A						OPA3_ENST00000544371.1_Intron	p.N50N	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1094	-			50					A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000323040.4	37	c.150C>T	CCDS12669.1																																																																																				0.617	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		18	46	0	0	0	0.038395	0	18	46				
TPCN2	219931	broad.mit.edu	37	11	68822187	68822187	+	Splice_Site	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:68822187A>G	ENST00000294309.3	+	3	275		c.e3-1		TPCN2_ENST00000542467.1_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTTCGCTTGTAGTACCGCTCC	0.577																																						ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.e3-1		two pore segment channel 2							153.0	90.0	111.0					11																	68822187		2200	4294	6494	SO:0001630	splice_region_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68822187A>G	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.175-1A>G	11.37:g.68822187A>G						TPCN2_ENST00000542467.1_Splice_Site		NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		3	275	+								Q9NT82	Splice_Site	SNP	ENST00000294309.3	37		CCDS8189.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.802832	0.31869	.	.	ENSG00000162341	ENST00000294309;ENST00000542467	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3241	0.60449	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPCN2	68578763	1.000000	0.71417	0.952000	0.39060	0.260000	0.26232	7.449000	0.80643	1.708000	0.51301	0.379000	0.24179	.		0.577	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075	Intron	6	25	0	0	0	0.038147	0	6	25				
KCNJ4	3761	broad.mit.edu	37	22	38823814	38823814	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr22:38823814C>T	ENST00000303592.3	-	2	582	c.324G>A	c.(322-324)ccG>ccA	p.P108P	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	108	Val/Gly/Ala/Pro stretch.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TGGGGGCCACCGGGGCTGCTC	0.692																																						ENST00000303592.3																			0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(322-324)ccG>ccA		potassium inwardly-rectifying channel, subfamily J, member 4							40.0	37.0	38.0					22																	38823814		2202	4300	6502	SO:0001819	synonymous_variant	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38823814C>T	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.324G>A	22.37:g.38823814C>T							p.P108P	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN			2	582	-	Melanoma(58;0.0286)		108			Val/Gly/Ala/Pro stretch.		Q14D44	Silent	SNP	ENST00000303592.3	37	c.324G>A	CCDS13971.1																																																																																				0.692	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		15	23	0	0	0	0.020292	0	15	23				
AKAP2	11217	broad.mit.edu	37	9	112900135	112900135	+	Missense_Mutation	SNP	G	G	A	rs142423891		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr9:112900135G>A	ENST00000259318.7	+	2	1825	c.1618G>A	c.(1618-1620)Gtc>Atc	p.V540I	PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.V771I|AKAP2_ENST00000434623.2_Missense_Mutation_p.V629I|AKAP2_ENST00000555236.1_Missense_Mutation_p.V771I|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.V771I|AKAP2_ENST00000510514.5_Missense_Mutation_p.V771I|AKAP2_ENST00000374525.1_Missense_Mutation_p.V629I	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	540										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						AGGAGAAGGCGTCTCCAAGTC	0.532																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2311-2313)Gtc>Atc				G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	75.0	71.0	72.0		1885,1618,1885,2311,2311	5.1	0.9	9	dbSNP_134	72	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense	AKAP2,PALM2-AKAP2	NM_001004065.4,NM_001136562.2,NM_001198656.1,NM_007203.4,NM_147150.2	29,29,29,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign,benign,benign	629/949,540/860,629/962,771/1104,771/1091	112900135	2,13004	2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112900135G>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.1618G>A	9.37:g.112900135G>A	ENSP00000259318:p.Val540Ile					AKAP2_ENST00000434623.2_Missense_Mutation_p.V629I|AKAP2_ENST00000374525.1_Missense_Mutation_p.V629I|AKAP2_ENST00000259318.7_Missense_Mutation_p.V540I|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.V771I|AKAP2_ENST00000555236.1_Missense_Mutation_p.V771I|AKAP2_ENST00000510514.5_Missense_Mutation_p.V771I	p.V771I	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	2491	+			540					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.2311G>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	G	9.464	1.093858	0.20471	0.0	2.33E-4	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.46819	2.21;2.2;2.21;2.2;1.46;0.86;0.87;1.46	5.96	5.07	0.68467	.	0.439078	0.23935	N	0.043118	T	0.27241	0.0668	N	0.14661	0.345	0.23645	N	0.997213	B;B;B;B;B;B;B;B	0.21309	0.004;0.004;0.007;0.016;0.009;0.03;0.054;0.008	B;B;B;B;B;B;B;B	0.13407	0.002;0.003;0.003;0.009;0.004;0.007;0.007;0.003	T	0.15723	-1.0427	10	0.11182	T	0.66	-18.9163	10.4934	0.44764	0.1625:0.0:0.8375:0.0	.	540;629;623;629;630;771;771;589	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	I	771;771;771;771;629;629;589;540	ENSP00000363654:V771I;ENSP00000305861:V771I;ENSP00000451476:V771I;ENSP00000421522:V771I;ENSP00000404782:V629I;ENSP00000363649:V629I;ENSP00000419268:V589I;ENSP00000259318:V540I	ENSP00000259318:V540I	V	+	1	0	PALM2-AKAP2;AKAP2	111939956	0.796000	0.28864	0.950000	0.38849	0.901000	0.52897	1.402000	0.34600	1.511000	0.48818	0.655000	0.94253	GTC		0.532	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		5	46	0	0	0	0.014758	0	5	46				
RBBP7	5931	broad.mit.edu	37	X	16887232	16887232	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chrX:16887232C>A	ENST00000380087.2	-	2	488	c.128G>T	c.(127-129)aGt>aTt	p.S43I	RBBP7_ENST00000380084.4_Missense_Mutation_p.S87I|RBBP7_ENST00000404022.1_Missense_Mutation_p.S43I			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	43					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					AACGGTAAGACTGGGCCACTG	0.403																																						ENST00000380087.2																			0				biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25						c.(127-129)aGt>aTt		retinoblastoma binding protein 7							119.0	103.0	108.0					X																	16887232		2203	4300	6503	SO:0001583	missense	5931				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	g.chrX:16887232C>A	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.128G>T	X.37:g.16887232C>A	ENSP00000369427:p.Ser43Ile					RBBP7_ENST00000380084.4_Missense_Mutation_p.S87I|RBBP7_ENST00000404022.1_Missense_Mutation_p.S43I	p.S43I			Q16576	RBBP7_HUMAN			2	488	-	Hepatocellular(33;0.0997)		43					Q5JP00	Missense_Mutation	SNP	ENST00000380087.2	37	c.128G>T	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132480	0.94473	.	.	ENSG00000102054	ENST00000380087;ENST00000380084;ENST00000404022;ENST00000468092	T;T;T	0.79845	-1.02;-1.31;-1.0	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.93802	0.8018	H	0.97896	4.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.996	D	0.96083	0.9055	10	0.87932	D	0	-13.0947	16.8394	0.85964	0.0:1.0:0.0:0.0	.	43;43;87	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	I	43;87;43;9	ENSP00000369427:S43I;ENSP00000369424:S87I;ENSP00000386068:S43I	ENSP00000369424:S87I	S	-	2	0	RBBP7	16797153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.287000	0.76781	0.594000	0.82650	AGT		0.403	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893		8	28	1	0	1.12685e-05	0.047766	1.26207e-05	8	28				
FBXO43	286151	broad.mit.edu	37	8	101149817	101149817	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr8:101149817G>A	ENST00000428847.2	-	3	1966	c.1650C>T	c.(1648-1650)atC>atT	p.I550I		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	550					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TCAGTTGTGTGATATAAAATT	0.303																																						ENST00000428847.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31						c.(1648-1650)atC>atT		F-box protein 43							119.0	110.0	113.0					8																	101149817		1812	4069	5881	SO:0001819	synonymous_variant	286151				meiosis		zinc ion binding	g.chr8:101149817G>A	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.1650C>T	8.37:g.101149817G>A							p.I550I	NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		3	1966	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		550						Silent	SNP	ENST00000428847.2	37	c.1650C>T	CCDS47904.1																																																																																				0.303	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		17	20	0	0	0	0.033300	0	17	20				
PKD1	5310	broad.mit.edu	37	16	2158547	2158547	+	Silent	SNP	G	G	A	rs575553075		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr16:2158547G>A	ENST00000262304.4	-	15	6829	c.6621C>T	c.(6619-6621)ccC>ccT	p.P2207P	PKD1_ENST00000423118.1_Silent_p.P2207P|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2207	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGTCCACGCCGGGCAGGGCCA	0.697																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(6619-6621)ccC>ccT		polycystic kidney disease 1 (autosomal dominant)							11.0	12.0	12.0					16																	2158547		2150	4234	6384	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2158547G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6621C>T	16.37:g.2158547G>A						PKD1_ENST00000423118.1_Silent_p.P2207P	p.P2207P	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	6829	-			2207			REJ.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.6621C>T	CCDS32369.1																																																																																				0.697	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			4	11	0	0	0	0.009096	0	4	11				
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs34988824	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr6:32725596C>G	ENST00000437316.2	-	4	774	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000435145.2_Silent_p.L237L			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	241					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(709-711)ctG>ctC		major histocompatibility complex, class II, DQ beta 2																																				SO:0001819	synonymous_variant	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725596C>G	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.711G>C	6.37:g.32725596C>G						HLA-DQB2_ENST00000437316.2_Silent_p.L237L|HLA-DQB2_ENST00000411527.1_Intron	p.L237L			Q5SR06	Q5SR06_HUMAN			4	772	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Silent	SNP	ENST00000437316.2	37	c.711G>C																																																																																					0.562	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			3	14	0	0	0	0.004672	0	3	14				
EIF4B	1975	broad.mit.edu	37	12	53410391	53410391	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr12:53410391G>C	ENST00000262056.9	+	2	474	c.148G>C	c.(148-150)Gat>Cat	p.D50H	RP11-983P16.2_ENST00000435621.3_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.D50H|EIF4B_ENST00000416762.3_Missense_Mutation_p.D50H|RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000551527.1_3'UTR	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	50					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CCTGGAAGGAGATGGTAACTT	0.403																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(148-150)Gat>Cat		eukaryotic translation initiation factor 4B							148.0	146.0	147.0					12																	53410391		1866	4098	5964	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53410391G>C	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.148G>C	12.37:g.53410391G>C	ENSP00000262056:p.Asp50His					RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000420463.3_Missense_Mutation_p.D50H|EIF4B_ENST00000416762.3_Missense_Mutation_p.D50H	p.D50H	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN			2	474	+			50					Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.148G>C	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.624182	0.28889	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762;ENST00000549481;ENST00000552490	D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51	4.65	3.76	0.43208	.	0.102956	0.64402	D	0.000005	D	0.95909	0.8668	M	0.77616	2.38	0.52501	D	0.99995	D;D;D	0.69078	0.995;0.997;0.997	P;P;P	0.57468	0.821;0.667;0.667	D	0.95703	0.8751	10	0.62326	D	0.03	.	12.2877	0.54800	0.0857:0.0:0.9143:0.0	.	50;50;50	B4DS13;E7EX17;P23588	.;.;IF4B_HUMAN	H	50	ENSP00000262056:D50H;ENSP00000388806:D50H;ENSP00000412530:D50H;ENSP00000449746:D50H;ENSP00000450324:D50H	ENSP00000262056:D50H	D	+	1	0	EIF4B	51696658	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	9.512000	0.98008	1.266000	0.44231	-0.258000	0.10820	GAT		0.403	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		11	52	0	0	0	0.105934	0	11	52				
TBC1D10C	374403	broad.mit.edu	37	11	67172899	67172899	+	Silent	SNP	G	G	A	rs200017820		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr11:67172899G>A	ENST00000542590.1	+	3	296	c.282G>A	c.(280-282)ccG>ccA	p.P94P	TBC1D10C_ENST00000312390.5_Silent_p.P94P|TBC1D10C_ENST00000526387.1_Silent_p.P94P			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	94	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AAGGCATCCCGTCTGCCCTGC	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		18285	0.0		0.001	False		,,,				2504	0.0					ENST00000312390.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16						c.(280-282)ccG>ccA		TBC1 domain family, member 10C		G		0,4400		0,0,2200	49.0	45.0	47.0		282	-3.0	0.7	11		47	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	TBC1D10C	NM_198517.2		0,1,6494	AA,AG,GG		0.0116,0.0,0.0077		94/447	67172899	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	374403					intracellular	Rab GTPase activator activity	g.chr11:67172899G>A	BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.282G>A	11.37:g.67172899G>A						TBC1D10C_ENST00000526387.1_Silent_p.P94P|TBC1D10C_ENST00000542590.1_Silent_p.P94P	p.P94P	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		4	311	+			94			Rab-GAP TBC.		G3V1D6	Silent	SNP	ENST00000542590.1	37	c.282G>A	CCDS8162.1																																																																																				0.657	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395492.2	NM_198517		13	38	0	0	0	0.020292	0	13	38				
ZC3H7B	23264	broad.mit.edu	37	22	41752804	41752804	+	Silent	SNP	C	C	G	rs201198885		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr22:41752804C>G	ENST00000352645.4	+	22	2930	c.2673C>G	c.(2671-2673)ctC>ctG	p.L891L	ZC3H7B_ENST00000351589.4_Silent_p.L891L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	907					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGTTCCGGCTCTGCGACAGGT	0.667																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(2671-2673)ctC>ctG		zinc finger CCCH-type containing 7B							67.0	64.0	65.0					22																	41752804		2203	4300	6503	SO:0001819	synonymous_variant	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41752804C>G		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.2673C>G	22.37:g.41752804C>G						ZC3H7B_ENST00000351589.4_Silent_p.L891L	p.L891L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			22	2930	+			907					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	ENST00000352645.4	37	c.2673C>G	CCDS14013.1																																																																																				0.667	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		7	39	0	0	0	0.029380	0	7	39				
PUS7L	83448	broad.mit.edu	37	12	44148848	44148848	+	Silent	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr12:44148848A>G	ENST00000416848.2	-	2	689	c.201T>C	c.(199-201)ttT>ttC	p.F67F	PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000551923.1_Silent_p.F67F|PUS7L_ENST00000344862.5_Silent_p.F67F|PUS7L_ENST00000553166.1_Silent_p.F67F	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	67					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		GTTTTTTGGGAAAATTATTTG	0.323																																						ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(199-201)ttT>ttC		pseudouridylate synthase 7 homolog (S. cerevisiae)-like							116.0	112.0	113.0					12																	44148848		2203	4300	6503	SO:0001819	synonymous_variant	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148848A>G	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.201T>C	12.37:g.44148848A>G						PUS7L_ENST00000553166.1_Silent_p.F67F|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Silent_p.F67F|PUS7L_ENST00000551923.1_Silent_p.F67F	p.F67F	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	689	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	67					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Silent	SNP	ENST00000416848.2	37	c.201T>C	CCDS8743.1																																																																																				0.323	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		4	52	0	0	0	0.014758	0	4	52				
EMR3	84658	broad.mit.edu	37	19	14752358	14752358	+	Missense_Mutation	SNP	G	G	T	rs146538980	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr19:14752358G>T	ENST00000253673.5	-	10	1221	c.1121C>A	c.(1120-1122)gCg>gAg	p.A374E	EMR3_ENST00000344373.4_Missense_Mutation_p.A322E|EMR3_ENST00000443157.2_Missense_Mutation_p.A248E|EMR3_ENST00000599900.1_Missense_Mutation_p.A159E	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	374					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGTGAGGGCCGCCAGGAGGAG	0.582																																						ENST00000253673.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1120-1122)gCg>gAg		egf-like module containing, mucin-like, hormone receptor-like 3							79.0	67.0	71.0					19																	14752358		2203	4299	6502	SO:0001583	missense	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14752358G>T	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1121C>A	19.37:g.14752358G>T	ENSP00000253673:p.Ala374Glu					EMR3_ENST00000443157.2_Missense_Mutation_p.A248E|EMR3_ENST00000344373.4_Missense_Mutation_p.A322E|EMR3_ENST00000599900.1_Missense_Mutation_p.A159E	p.A374E	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN			10	1221	-			374						Missense_Mutation	SNP	ENST00000253673.5	37	c.1121C>A	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.221922	0.58560	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.38401	1.14;1.14;1.14	3.68	3.68	0.42216	GPCR, family 2-like (1);	.	.	.	.	T	0.68421	0.2999	M	0.94101	3.495	0.22050	N	0.999397	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.62253	-0.6893	9	0.87932	D	0	.	12.9483	0.58386	0.0:0.0:1.0:0.0	.	248;322;374	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	E	248;374;322	ENSP00000396208:A248E;ENSP00000253673:A374E;ENSP00000340758:A322E	ENSP00000253673:A374E	A	-	2	0	EMR3	14613358	0.384000	0.25164	0.969000	0.41365	0.759000	0.43091	2.649000	0.46656	1.895000	0.54865	0.561000	0.74099	GCG		0.582	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		8	37	1	0	2.17888e-05	0.058154	2.40823e-05	8	37				
CECR5	27440	broad.mit.edu	37	22	17619607	17619607	+	Silent	SNP	C	C	A	rs528367507		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr22:17619607C>A	ENST00000336737.4	-	7	793	c.768G>T	c.(766-768)ctG>ctT	p.L256L	CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Silent_p.L226L	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	256						mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CCAGGCACAGCAGAAAGGTGC	0.537																																						ENST00000336737.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21						c.(766-768)ctG>ctT		cat eye syndrome chromosome region, candidate 5							148.0	137.0	141.0					22																	17619607		2203	4300	6503	SO:0001819	synonymous_variant	27440						hydrolase activity	g.chr22:17619607C>A	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.768G>T	22.37:g.17619607C>A						CECR5_ENST00000155674.5_Silent_p.L226L|CECR5_ENST00000399852.3_Intron	p.L256L	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN			7	793	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	256					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Silent	SNP	ENST00000336737.4	37	c.768G>T	CCDS33595.1																																																																																				0.537	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		13	121	1	0	9.31168e-06	0.105934	1.057e-05	13	121				
IL12A-AS1	101928376	broad.mit.edu	37	3	159819580	159819580	+	RNA	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr3:159819580G>A	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		CATCTTGACCGCATTGTGAAG	0.433																																						ENST00000497452.1																			0																																																			101928376							g.chr3:159819580G>A	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159819580G>A														0	517	-									RNA	SNP	ENST00000497452.1	37																																																																																						0.433	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			37	154	0	0	0	0.086207	0	37	154				
KIAA0754	643314	broad.mit.edu	37	1	39878082	39878082	+	Silent	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr1:39878082T>C	ENST00000530275.1	+	1	1932	c.1737T>C	c.(1735-1737)tgT>tgC	p.C579C	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	579										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAAGTTTGTGATGAGGATG	0.423																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(1735-1737)tgT>tgC		KIAA0754							110.0	107.0	108.0					1																	39878082		1921	4136	6057	SO:0001819	synonymous_variant	643314							g.chr1:39878082T>C			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1737T>C	1.37:g.39878082T>C						MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000539005.1_Intron	p.C579C	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	1932	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	579					E9PMC2|Q6ZSB2	Silent	SNP	ENST00000530275.1	37	c.1737T>C																																																																																					0.423	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		6	38	0	0	0	0.021553	0	6	38				
TRIM36	55521	broad.mit.edu	37	5	114499269	114499269	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr5:114499269G>C	ENST00000282369.3	-	2	365	c.244C>G	c.(244-246)Cga>Gga	p.R82G	TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000513154.1_Missense_Mutation_p.R70G	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	82					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AGCCGAAGTCGAGGACTGCTT	0.453																																						ENST00000513154.1																			0				breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37						c.(208-210)Cga>Gga		tripartite motif containing 36							139.0	131.0	134.0					5																	114499269		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114499269G>C	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.244C>G	5.37:g.114499269G>C	ENSP00000282369:p.Arg82Gly					TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000282369.3_Missense_Mutation_p.R82G	p.R70G			Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	2	534	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	82					A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.208C>G	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772065	0.69992	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	T;T;T	0.56444	0.46;0.58;0.86	5.31	4.41	0.53225	Zinc finger, RING-type (2);	0.000000	0.64402	D	0.000001	T	0.68109	0.2965	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.65319	-0.6197	10	0.21014	T	0.42	.	14.9924	0.71399	0.0:0.0:0.8562:0.1438	.	70;82	E9PFI8;Q9NQ86	.;TRI36_HUMAN	G	82;70;70	ENSP00000282369:R82G;ENSP00000423934:R70G;ENSP00000424743:R70G	ENSP00000282369:R82G	R	-	1	2	TRIM36	114527168	1.000000	0.71417	0.978000	0.43139	0.999000	0.98932	4.088000	0.57678	1.163000	0.42636	0.655000	0.94253	CGA		0.453	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		5	49	0	0	0	0.021553	0	5	49				
CTNNA2	1496	broad.mit.edu	37	2	80646578	80646578	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr2:80646578G>A	ENST00000402739.4	+	8	1147	c.1142G>A	c.(1141-1143)cGg>cAg	p.R381Q	CTNNA2_ENST00000496558.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R60Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R415Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R381Q	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	381					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						CTGTAGCTTCGGAAAGCAGTG	0.358																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(1141-1143)cGg>cAg		catenin (cadherin-associated protein), alpha 2							113.0	103.0	106.0					2																	80646578		1874	4122	5996	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.chr2:80646578G>A		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.1142G>A	2.37:g.80646578G>A	ENSP00000384638:p.Arg381Gln					CTNNA2_ENST00000402739.4_Missense_Mutation_p.R381Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R60Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R415Q	p.R381Q			P26232	CTNA2_HUMAN			13	1866	+			381					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1142G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.233757	0.95207	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	T;T;T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.58133	0.2101	M	0.64676	1.99	0.80722	D	1	B;D;D;D	0.69078	0.301;0.997;0.99;0.982	B;P;P;P	0.55222	0.066;0.756;0.771;0.642	T	0.52366	-0.8585	9	.	.	.	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	13;381;381;381	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	Q	381;381;415;381;381;381;60;46	ENSP00000418191:R381Q;ENSP00000419295:R381Q;ENSP00000355398:R415Q;ENSP00000384638:R381Q;ENSP00000444675:R381Q;ENSP00000441705:R381Q;ENSP00000341500:R60Q;ENSP00000386587:R46Q	.	R	+	2	0	CTNNA2	80500089	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	CGG		0.358	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		8	51	0	0	0	0.038147	0	8	51				
PHLDA2	7262	broad.mit.edu	37	11	2950579	2950579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr11:2950579C>T	ENST00000314222.4	-	1	106	c.16G>A	c.(16-18)Gag>Aag	p.E6K		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	6					apoptotic process (GO:0006915)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|regulation of gene expression (GO:0010468)|regulation of glycogen metabolic process (GO:0070873)	cytoplasm (GO:0005737)|membrane (GO:0016020)				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGTAGCACCTCGTCGGGGGAT	0.677																																						ENST00000314222.4																			0				central_nervous_system(1)	1						c.(16-18)Gag>Aag		pleckstrin homology-like domain, family A, member 2							12.0	14.0	13.0					11																	2950579		2196	4281	6477	SO:0001583	missense	7262				apoptosis	cytoplasm|membrane		g.chr11:2950579C>T	AF035444	CCDS7741.1	11p15.4	2013-01-10	2003-09-26	2003-10-01	ENSG00000181649	ENSG00000181649		"""Pleckstrin homology (PH) domain containing"""	12385	protein-coding gene	gene with protein product		602131	"""tumor suppressing subtransferable candidate 3"""	TSSC3		9328465, 9403053	Standard	NM_003311		Approved	IPL, BWR1C, HLDA2	uc001lxa.1	Q53GA4	OTTHUMG00000010926	ENST00000314222.4:c.16G>A	11.37:g.2950579C>T	ENSP00000319231:p.Glu6Lys						p.E6K	NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	106	-		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)	6					O00496	Missense_Mutation	SNP	ENST00000314222.4	37	c.16G>A	CCDS7741.1	.	.	.	.	.	.	.	.	.	.	C	8.230	0.804463	0.16467	.	.	ENSG00000181649	ENST00000314222	T	0.39229	1.09	3.51	3.51	0.40186	Pleckstrin homology-type (1);	0.331812	0.27016	U	0.021360	T	0.21509	0.0518	L	0.34521	1.04	0.30131	N	0.804803	P	0.42692	0.787	B	0.32583	0.148	T	0.12967	-1.0527	10	0.07175	T	0.84	-12.9824	8.4901	0.33095	0.0:0.8887:0.0:0.1113	.	6	Q53GA4	PHLA2_HUMAN	K	6	ENSP00000319231:E6K	ENSP00000319231:E6K	E	-	1	0	PHLDA2	2907155	.	.	0.685000	0.30070	0.599000	0.36880	.	.	1.660000	0.50760	0.313000	0.20887	GAG		0.677	PHLDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030116.1	NM_003311		10	8	0	0	0	0.069234	0	10	8				
ATP8A1	10396	broad.mit.edu	37	4	42551058	42551058	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr4:42551058C>T	ENST00000381668.5	-	19	1855	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E527K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	542					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTGAGCAATTCATATCTTTCT	0.308																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(1624-1626)Gaa>Aaa		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						82.0	89.0	87.0					4																	42551058		2203	4298	6501	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42551058C>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1624G>A	4.37:g.42551058C>T	ENSP00000371084:p.Glu542Lys					ATP8A1_ENST00000264449.10_Missense_Mutation_p.E527K	p.E542K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			19	1855	-			542					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.1624G>A	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987534	0.93106	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.66638	-0.22;-0.22	5.32	5.32	0.75619	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.058226	0.64402	D	0.000002	T	0.77418	0.4127	L	0.49571	1.57	0.80722	D	1	D;P;P	0.57257	0.979;0.526;0.879	D;P;P	0.71414	0.973;0.72;0.772	T	0.75233	-0.3390	10	0.36615	T	0.2	.	17.5541	0.87885	0.0:1.0:0.0:0.0	.	527;527;542	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	K	542;527	ENSP00000371084:E542K;ENSP00000264449:E527K	ENSP00000264449:E527K	E	-	1	0	ATP8A1	42245815	1.000000	0.71417	0.982000	0.44146	0.847000	0.48162	6.614000	0.74197	2.478000	0.83669	0.591000	0.81541	GAA		0.308	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		9	40	0	0	0	0.047766	0	9	40				
TTC7A	57217	broad.mit.edu	37	2	47238537	47238537	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr2:47238537T>C	ENST00000319190.5	+	11	1723	c.1355T>C	c.(1354-1356)cTg>cCg	p.L452P	TTC7A_ENST00000409245.1_Missense_Mutation_p.L418P|TTC7A_ENST00000263737.6_Missense_Mutation_p.L98P|TTC7A_ENST00000394850.2_Missense_Mutation_p.L452P|TTC7A_ENST00000461601.1_3'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	452					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			ACCGTGCCCCTGATGGCCGCG	0.637																																						ENST00000319190.5																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1354-1356)cTg>cCg		tetratricopeptide repeat domain 7A							67.0	55.0	59.0					2																	47238537		2203	4300	6503	SO:0001583	missense	57217						binding	g.chr2:47238537T>C	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.1355T>C	2.37:g.47238537T>C	ENSP00000316699:p.Leu452Pro					TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_Missense_Mutation_p.L98P|TTC7A_ENST00000394850.2_Missense_Mutation_p.L452P|TTC7A_ENST00000409245.1_Missense_Mutation_p.L418P	p.L452P	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		11	1723	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	452					Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	c.1355T>C	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	T	19.58	3.853626	0.71719	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000263737;ENST00000434093	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	4.47	4.47	0.54385	Tetratricopeptide-like helical (1);	0.247012	0.34386	N	0.004017	T	0.69593	0.3128	M	0.83603	2.65	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.99;0.998;0.995;0.99;0.997	T	0.75178	-0.3409	10	0.87932	D	0	-11.6268	12.8914	0.58073	0.0:0.0:0.0:1.0	.	452;418;452;280;418	Q2T9J9;B3KPK7;Q9ULT0;Q6P0M3;G5E9G4	.;.;TTC7A_HUMAN;.;.	P	418;452;452;98;279	ENSP00000386307:L418P;ENSP00000316699:L452P;ENSP00000378320:L452P;ENSP00000263737:L98P	ENSP00000263737:L98P	L	+	2	0	TTC7A	47092041	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	7.313000	0.78978	1.878000	0.54408	0.377000	0.23210	CTG		0.637	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		3	14	0	0	0	0.004672	0	3	14				
MTA2	9219	broad.mit.edu	37	11	62361790	62361790	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr11:62361790C>G	ENST00000278823.2	-	17	2171	c.1782G>C	c.(1780-1782)caG>caC	p.Q594H	MIR3654_ENST00000496634.2_5'Flank|MTA2_ENST00000524902.1_Missense_Mutation_p.Q421H|TUT1_ENST00000308436.7_5'Flank|TUT1_ENST00000476907.1_5'Flank|MTA2_ENST00000527204.1_Missense_Mutation_p.Q421H	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	594					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GGTTTAGTTTCTGACGCTTGG	0.567																																						ENST00000278823.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						c.(1780-1782)caG>caC		metastasis associated 1 family, member 2							79.0	71.0	74.0					11																	62361790		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62361790C>G	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1782G>C	11.37:g.62361790C>G	ENSP00000278823:p.Gln594His					MTA2_ENST00000527204.1_Missense_Mutation_p.Q421H|MTA2_ENST00000524902.1_Missense_Mutation_p.Q421H	p.Q594H	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN			17	2171	-			594					Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.1782G>C	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535676	0.64972	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.50548	1.35;0.74;0.74	5.79	3.94	0.45596	.	0.055071	0.85682	D	0.000000	T	0.43366	0.1244	L	0.60455	1.87	0.58432	D	0.999999	P	0.50943	0.94	B	0.41571	0.36	T	0.37407	-0.9707	10	0.48119	T	0.1	-23.9764	10.7909	0.46432	0.0:0.8465:0.0:0.1535	.	594	O94776	MTA2_HUMAN	H	594;421;421	ENSP00000278823:Q594H;ENSP00000431346:Q421H;ENSP00000431797:Q421H	ENSP00000278823:Q594H	Q	-	3	2	MTA2	62118366	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.757000	0.47557	0.806000	0.34183	-0.812000	0.03155	CAG		0.567	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		8	49	0	0	0	0.047766	0	8	49				
PUS7L	83448	broad.mit.edu	37	12	44130374	44130374	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr12:44130374T>A	ENST00000416848.2	-	7	2023	c.1535A>T	c.(1534-1536)gAg>gTg	p.E512V	PUS7L_ENST00000431332.3_Missense_Mutation_p.E199V|PUS7L_ENST00000551923.1_Missense_Mutation_p.E512V|PUS7L_ENST00000344862.5_Missense_Mutation_p.E512V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	512	TRUD. {ECO:0000255|PROSITE- ProRule:PRU00342}.				pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		ACAACCTTCCTCGGTCATGCC	0.448																																						ENST00000416848.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1534-1536)gAg>gTg		pseudouridylate synthase 7 homolog (S. cerevisiae)-like							170.0	137.0	148.0					12																	44130374		2203	4300	6503	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44130374T>A	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.1535A>T	12.37:g.44130374T>A	ENSP00000415899:p.Glu512Val					PUS7L_ENST00000431332.3_Missense_Mutation_p.E199V|PUS7L_ENST00000344862.5_Missense_Mutation_p.E512V|PUS7L_ENST00000551923.1_Missense_Mutation_p.E512V	p.E512V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	7	2023	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	512			TRUD.		B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.1535A>T	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410023	0.62399	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000431332	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.02	5.02	0.67125	Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase, TruD, insertion domain (1);	0.450603	0.25701	N	0.028875	T	0.43942	0.1270	M	0.64080	1.96	0.33305	D	0.565335	P	0.36199	0.543	B	0.37198	0.243	T	0.60742	-0.7203	10	0.44086	T	0.13	-20.5551	15.4454	0.75225	0.0:0.0:0.0:1.0	.	512	Q9H0K6	PUS7L_HUMAN	V	512;512;512;199	ENSP00000415899:E512V;ENSP00000343081:E512V;ENSP00000447706:E512V;ENSP00000398497:E199V	ENSP00000343081:E512V	E	-	2	0	PUS7L	42416641	0.691000	0.27709	0.976000	0.42696	0.963000	0.63663	2.920000	0.48844	2.198000	0.70561	0.482000	0.46254	GAG		0.448	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		12	50	0	0	0	0.080935	0	12	50				
PSD4	23550	broad.mit.edu	37	2	113942946	113942946	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr2:113942946C>T	ENST00000245796.6	+	4	1373	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F	PSD4_ENST00000441564.3_Missense_Mutation_p.S393F	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	393					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAACAGGCCTCTCTCAGCCCT	0.587																																						ENST00000245796.6																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1177-1179)tCt>tTt		pleckstrin and Sec7 domain containing 4							93.0	98.0	97.0					2																	113942946		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113942946C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1178C>T	2.37:g.113942946C>T	ENSP00000245796:p.Ser393Phe					PSD4_ENST00000441564.2_Missense_Mutation_p.S393F	p.S393F	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN			4	1373	+			393					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.1178C>T	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	C	9.286	1.049509	0.19827	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.14144	2.73;2.53	3.63	-2.68	0.06041	.	8.968620	0.00166	N	0.000000	T	0.07954	0.0199	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.24083	-1.0170	10	0.34782	T	0.22	.	0.9654	0.01404	0.1719:0.1862:0.1718:0.4702	.	393;393	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	F	393	ENSP00000245796:S393F;ENSP00000413997:S393F	ENSP00000245796:S393F	S	+	2	0	PSD4	113659417	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.983000	0.03759	-0.544000	0.06232	-0.244000	0.11960	TCT		0.587	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455		21	90	0	0	0	0.083992	0	21	90				
LINC00969	440993	broad.mit.edu	37	3	195395402	195395402	+	lincRNA	SNP	C	C	A	rs199554501	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr3:195395402C>A	ENST00000445430.1	+	0	809									long intergenic non-protein coding RNA 969																		TACGGGCGCACCTACTTGAGC	0.597																																						ENST00000445430.1																			0																																																			440993							g.chr3:195395402C>A	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.195395402C>A														0	809	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	68	1	0	0.00198382	0.029380	0.00213642	4	68				
ELN	2006	broad.mit.edu	37	7	73474268	73474268	+	Silent	SNP	C	C	T	rs200512332		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr7:73474268C>T	ENST00000252034.7	+	23	1866	c.1467C>T	c.(1465-1467)gtC>gtT	p.V489V	CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000380584.4_Silent_p.V456V|ELN_ENST00000320492.7_Silent_p.V408V|ELN_ENST00000429192.1_Silent_p.V475V|ELN_ENST00000458204.1_Silent_p.V479V|ELN_ENST00000357036.5_Silent_p.V494V|ELN_ENST00000445912.1_Silent_p.V489V|ELN_ENST00000414324.1_Silent_p.V465V|ELN_ENST00000358929.4_Silent_p.V524V|ELN_ENST00000380576.5_Silent_p.V470V|ELN_ENST00000320399.6_Silent_p.V489V|ELN_ENST00000380562.4_Silent_p.V495V|ELN_ENST00000380553.4_Silent_p.V353V|ELN_ENST00000380575.4_Silent_p.V460V	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CTCCTGGTGTCGGTGTGGCTC	0.602			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						C|||	1	0.000199681	0.0	0.0	5008	,	,		13578	0.0		0.0	False		,,,				2504	0.001					ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1465-1467)gtC>gtT		elastin	Rofecoxib(DB00533)						217.0	204.0	209.0					7																	73474268		2203	4300	6503	SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474268C>T		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1467C>T	7.37:g.73474268C>T						ELN_ENST00000414324.1_Silent_p.V465V|ELN_ENST00000380553.4_Silent_p.V353V|ELN_ENST00000380562.4_Silent_p.V495V|ELN_ENST00000380575.4_Silent_p.V460V|ELN_ENST00000380576.5_Silent_p.V470V|ELN_ENST00000458204.1_Silent_p.V479V|ELN_ENST00000357036.5_Silent_p.V494V|ELN_ENST00000445912.1_Silent_p.V489V|ELN_ENST00000320399.6_Silent_p.V489V|ELN_ENST00000320492.7_Silent_p.V408V|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.V475V|ELN_ENST00000380584.4_Silent_p.V456V|ELN_ENST00000358929.4_Silent_p.V524V	p.V489V	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			23	1866	+		Lung NSC(55;0.159)	518			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	c.1467C>T	CCDS5562.2																																																																																				0.602	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		15	174	0	0	0	0.041601	0	15	174				
SI	6476	broad.mit.edu	37	3	164725717	164725717	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr3:164725717A>G	ENST00000264382.3	-	36	4311	c.4249T>C	c.(4249-4251)Tat>Cat	p.Y1417H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1417	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)	TAAGGTGGATAATTTAGTTCG	0.264										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.(4249-4251)Tat>Cat		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						152.0	156.0	155.0					3																	164725717		2202	4293	6495	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.chr3:164725717A>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.4249T>C	3.37:g.164725717A>G	ENSP00000264382:p.Tyr1417His	HNSCC(35;0.089)					p.Y1417H	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			36	4311	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1417			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4249T>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	1.486	-0.555897	0.03967	.	.	ENSG00000090402	ENST00000264382	D	0.88586	-2.4	4.92	2.27	0.28462	Glycoside hydrolase, superfamily (1);	0.905653	0.09351	N	0.814071	T	0.79644	0.4481	L	0.28608	0.87	0.22185	N	0.999304	B	0.02656	0.0	B	0.10450	0.005	T	0.62324	-0.6878	10	0.14656	T	0.56	.	5.2096	0.15308	0.7251:0.0:0.0853:0.1896	.	1417	P14410	SUIS_HUMAN	H	1417	ENSP00000264382:Y1417H	ENSP00000264382:Y1417H	Y	-	1	0	SI	166208411	0.028000	0.19301	0.549000	0.28204	0.597000	0.36814	0.813000	0.27225	0.769000	0.33313	0.477000	0.44152	TAT		0.264	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		8	75	0	0	0	0.069234	0	8	75				
CCDC170	80129	broad.mit.edu	37	6	151857487	151857487	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr6:151857487C>T	ENST00000239374.7	+	2	191	c.92C>T	c.(91-93)aCg>aTg	p.T31M	CCDC170_ENST00000367290.5_Missense_Mutation_p.T31M|CCDC170_ENST00000544131.1_3'UTR	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	31								p.T31M(1)									GTCCCGGTCACGCGGGAGCAG	0.433																																						ENST00000367290.5																			1	Substitution - Missense(1)	p.T31M(1)	large_intestine(1)								c.(91-93)aCg>aTg		coiled-coil domain containing 170							104.0	97.0	99.0					6																	151857487		1854	4094	5948	SO:0001583	missense	80129							g.chr6:151857487C>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.92C>T	6.37:g.151857487C>T	ENSP00000239374:p.Thr31Met					CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000239374.7_Missense_Mutation_p.T31M	p.T31M			Q8IYT3	CF097_HUMAN			2	181	+			31					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.92C>T	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086199	0.36855	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.11821	2.75;2.74	5.95	3.17	0.36434	.	0.491298	0.22181	N	0.063519	T	0.16257	0.0391	M	0.73962	2.25	0.26952	N	0.966002	D	0.71674	0.998	P	0.59288	0.855	T	0.05451	-1.0884	10	0.87932	D	0	-1.2721	9.129	0.36833	0.0:0.7463:0.1219:0.1318	.	31	Q8IYT3	CF097_HUMAN	M	31	ENSP00000239374:T31M;ENSP00000356259:T31M	ENSP00000239374:T31M	T	+	2	0	C6orf97	151899180	0.675000	0.27558	0.047000	0.18901	0.001000	0.01503	1.302000	0.33459	0.389000	0.25086	-0.157000	0.13467	ACG		0.433	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		5	57	0	0	0	0.021553	0	5	57				
FMN2	56776	broad.mit.edu	37	1	240492666	240492666	+	Silent	SNP	C	C	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr1:240492666C>A	ENST00000319653.9	+	10	4565	c.4335C>A	c.(4333-4335)ccC>ccA	p.P1445P	FMN2_ENST00000545751.1_Silent_p.P41P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1445	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACTAATCCCCAACTTTTCAG	0.363																																						ENST00000319653.9																			0				NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(4333-4335)ccC>ccA		formin 2							163.0	152.0	155.0					1																	240492666		2203	4300	6503	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240492666C>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4335C>A	1.37:g.240492666C>A						FMN2_ENST00000545751.1_Silent_p.P41P	p.P1445P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		10	4565	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1445			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.4335C>A	CCDS31069.2																																																																																				0.363	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		11	87	1	0	0.000673444	0.069234	0.000734666	11	87				
PCDHA7	56141	broad.mit.edu	37	5	140215474	140215474	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr5:140215474C>T	ENST00000525929.1	+	1	1506	c.1506C>T	c.(1504-1506)cgC>cgT	p.R502R	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.R502R|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	502	Cadherin 5. {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(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGAGCGCGCGCTGTCGA	0.677																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1504-1506)cgC>cgT									64.0	68.0	67.0					5																	140215474		2203	4297	6500	SO:0001819	synonymous_variant	56141							g.chr5:140215474C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1506C>T	5.37:g.140215474C>T						PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.R502R|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.R502R	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1506	+								O75282	Silent	SNP	ENST00000525929.1	37	c.1506C>T	CCDS54918.1																																																																																				0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		13	79	0	0	0	0.024245	0	13	79				
FBLN1	2192	broad.mit.edu	37	22	45929029	45929029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr22:45929029G>C	ENST00000327858.6	+	6	726	c.631G>C	c.(631-633)Ggt>Cgt	p.G211R	FBLN1_ENST00000340923.5_Missense_Mutation_p.G211R|FBLN1_ENST00000262722.7_Missense_Mutation_p.G211R|FBLN1_ENST00000348697.2_Missense_Mutation_p.G211R|FBLN1_ENST00000402984.3_Missense_Mutation_p.G249R|FBLN1_ENST00000442170.2_Missense_Mutation_p.G211R	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	211	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCTGTCTGATGGTGTCTCCTG	0.637																																						ENST00000348697.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.(631-633)Ggt>Cgt		fibulin 1							181.0	117.0	139.0					22																	45929029		2203	4300	6503	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45929029G>C		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.631G>C	22.37:g.45929029G>C	ENSP00000331544:p.Gly211Arg					FBLN1_ENST00000402984.3_Missense_Mutation_p.G249R|FBLN1_ENST00000442170.2_Missense_Mutation_p.G211R|FBLN1_ENST00000340923.5_Missense_Mutation_p.G211R|FBLN1_ENST00000262722.7_Missense_Mutation_p.G211R|FBLN1_ENST00000327858.6_Missense_Mutation_p.G211R	p.G211R			P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	6	778	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	211			EGF-like 1.		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.631G>C	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238485	0.79800	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923;ENST00000451475	T;T;T;T;T;T;T	0.75050	-0.9;1.4;1.4;1.4;1.4;1.4;-0.9	5.44	3.24	0.37175	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.350346	0.32703	N	0.005745	T	0.79919	0.4529	M	0.64630	1.985	0.48830	D	0.999718	D;P;P;D	0.61080	0.982;0.93;0.851;0.989	P;P;P;D	0.62955	0.813;0.559;0.646;0.909	T	0.76940	-0.2773	10	0.28530	T	0.3	.	10.5502	0.45083	0.0726:0.1336:0.7938:0.0	.	249;211;211;211	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	R	211;249;211;211;211;211;131	ENSP00000262723:G211R;ENSP00000385521:G249R;ENSP00000262722:G211R;ENSP00000331544:G211R;ENSP00000393812:G211R;ENSP00000342212:G211R;ENSP00000415160:G131R	ENSP00000262722:G211R	G	+	1	0	FBLN1	44307693	1.000000	0.71417	0.811000	0.32455	0.769000	0.43574	4.216000	0.58540	1.294000	0.44707	0.484000	0.47621	GGT		0.637	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		8	35	0	0	0	0.038147	0	8	35				
MVP	9961	broad.mit.edu	37	16	29851704	29851704	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr16:29851704A>G	ENST00000357402.5	+	8	1253	c.1115A>G	c.(1114-1116)gAg>gGg	p.E372G	MVP_ENST00000395353.1_Missense_Mutation_p.E372G|MVP_ENST00000452209.2_3'UTR	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	372					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCCAAAGTGGAGGTGGTGGAG	0.612																																						ENST00000357402.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						c.(1114-1116)gAg>gGg		major vault protein							34.0	27.0	30.0					16																	29851704		2195	4300	6495	SO:0001583	missense	9961				mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	g.chr16:29851704A>G	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.1115A>G	16.37:g.29851704A>G	ENSP00000349977:p.Glu372Gly					MVP_ENST00000395353.1_Missense_Mutation_p.E372G|MVP_ENST00000452209.2_3'UTR	p.E372G	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN			8	1253	+			372					Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Missense_Mutation	SNP	ENST00000357402.5	37	c.1115A>G	CCDS10656.1	.	.	.	.	.	.	.	.	.	.	a	19.14	3.769253	0.69992	.	.	ENSG00000013364	ENST00000357402;ENST00000395353	T;T	0.34859	1.34;1.34	5.37	5.37	0.77165	.	0.098023	0.64402	D	0.000002	T	0.43875	0.1267	M	0.86178	2.8	0.80722	D	1	P	0.44986	0.847	B	0.39185	0.293	T	0.54990	-0.8210	10	0.56958	D	0.05	-11.2743	13.33	0.60480	1.0:0.0:0.0:0.0	.	372	Q14764	MVP_HUMAN	G	372	ENSP00000349977:E372G;ENSP00000378760:E372G	ENSP00000349977:E372G	E	+	2	0	MVP	29759205	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.414000	0.59802	2.048000	0.60808	0.456000	0.33151	GAG		0.612	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115		2	8	0	0	0	0.004672	0	2	8				
HPX	3263	broad.mit.edu	37	11	6452604	6452604	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr11:6452604A>G	ENST00000265983.3	-	10	1326	c.1226T>C	c.(1225-1227)aTg>aCg	p.M409T		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	409					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GGACTTTTCCATACACAAGGC	0.562																																						ENST00000265983.3																			0				endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15						c.(1225-1227)aTg>aCg		hemopexin							159.0	142.0	148.0					11																	6452604		2201	4296	6497	SO:0001583	missense	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6452604A>G	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1226T>C	11.37:g.6452604A>G	ENSP00000265983:p.Met409Thr						p.M409T	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	10	1326	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	409					B2R957	Missense_Mutation	SNP	ENST00000265983.3	37	c.1226T>C	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	A	0.077	-1.190319	0.01607	.	.	ENSG00000110169	ENST00000265983	T	0.06849	3.25	4.25	-0.862	0.10673	Hemopexin/matrixin (2);	2.809100	0.00633	N	0.000483	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37056	-0.9722	10	0.21014	T	0.42	6.2152	7.5366	0.27714	0.5434:0.0:0.4566:0.0	.	409	P02790	HEMO_HUMAN	T	409	ENSP00000265983:M409T	ENSP00000265983:M409T	M	-	2	0	HPX	6409180	0.000000	0.05858	0.000000	0.03702	0.939000	0.58152	-0.090000	0.11163	-0.144000	0.11314	0.459000	0.35465	ATG		0.562	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		15	34	0	0	0	0.028581	0	15	34				
TTN	7273	broad.mit.edu	37	2	179606565	179606565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr2:179606565C>T	ENST00000591111.1	-	46	10668	c.10444G>A	c.(10444-10446)Gaa>Aaa	p.E3482K	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E3628K|TTN_ENST00000359218.5_Missense_Mutation_p.E3561K|TTN_ENST00000460472.2_Missense_Mutation_p.E3436K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E3799K|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13805			E -> K (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)	p.E3436K(1)		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)			GACAAAAGTTCAAGTGTTTCA	0.373																																						ENST00000589042.1																			1	Substitution - Missense(1)	p.E3436K(1)	skin(1)	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.(11395-11397)Gaa>Aaa		titin							50.0	47.0	48.0					2																	179606565		1818	4072	5890	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179606565C>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.10444G>A	2.37:g.179606565C>T	ENSP00000465570:p.Glu3482Lys					TTN_ENST00000359218.5_Missense_Mutation_p.E3561K|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E3482K|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3436K|TTN_ENST00000342175.6_Missense_Mutation_p.E3628K	p.E3799K	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)		48	11619	-			3482		S -> Y (in CMD1G).			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.11395G>A		.	.	.	.	.	.	.	.	.	.	C	17.03	3.285552	0.59867	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.63744	0.02;-0.06;0.04	6.16	5.27	0.74061	.	.	.	.	.	T	0.50377	0.1612	L	0.27053	0.805	0.34972	D	0.753233	P;P;P	0.41393	0.748;0.748;0.748	B;B;B	0.34991	0.193;0.193;0.193	T	0.65878	-0.6061	9	0.87932	D	0	.	17.5251	0.87798	0.0:0.8762:0.1238:0.0	.	3436;3561;3628	D3DPF9;E7EQE6;E7ET18	.;.;.	K	3436;3628;3561;3436	ENSP00000434586:E3436K;ENSP00000340554:E3628K;ENSP00000352154:E3561K	ENSP00000340554:E3628K	E	-	1	0	TTN	179314810	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.582000	0.60957	1.582000	0.49881	0.650000	0.86243	GAA		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	12	0	0	0	0.009096	0	4	12				
MAST1	22983	broad.mit.edu	37	19	12951871	12951871	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr19:12951871C>T	ENST00000251472.4	+	3	278	c.239C>T	c.(238-240)tCc>tTc	p.S80F	MAST1_ENST00000591495.1_Missense_Mutation_p.S76F	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						TCGTTTGCCTCCTCCCGAAGG	0.627																																						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.(238-240)tCc>tTc		microtubule associated serine/threonine kinase 1							69.0	72.0	71.0					19																	12951871		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12951871C>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.239C>T	19.37:g.12951871C>T	ENSP00000251472:p.Ser80Phe					MAST1_ENST00000591495.1_Missense_Mutation_p.S76F	p.S80F	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			3	278	+			80						Missense_Mutation	SNP	ENST00000251472.4	37	c.239C>T	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	31	5.089341	0.94149	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.30448	1.53	5.97	5.97	0.96955	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.142017	0.47455	D	0.000222	T	0.48409	0.1498	L	0.40543	1.245	0.58432	D	0.999996	D;D;P	0.69078	0.997;0.976;0.935	D;P;P	0.71656	0.974;0.905;0.847	T	0.37009	-0.9724	10	0.66056	D	0.02	-34.5646	17.9218	0.88969	0.0:1.0:0.0:0.0	.	80;80;80	Q9Y2H9;B4DMN4;F5H2S9	MAST1_HUMAN;.;.	F	80	ENSP00000251472:S80F	ENSP00000251472:S80F	S	+	2	0	MAST1	12812871	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	6.888000	0.75622	2.837000	0.97791	0.655000	0.94253	TCC		0.627	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		4	38	0	0	0	0.014758	0	4	38				
MS4A14	84689	broad.mit.edu	37	11	60170536	60170536	+	Splice_Site	SNP	T	T	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr11:60170536T>C	ENST00000300187.6	+	4	745		c.e4+2		MS4A14_ENST00000395001.1_Splice_Site|MS4A14_ENST00000531783.1_Splice_Site|MS4A14_ENST00000395005.2_Splice_Site|MS4A14_ENST00000531787.1_Splice_Site	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14							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						CTTTTCATTGTAAGTGGTCTT	0.343																																						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.e4+2		membrane-spanning 4-domains, subfamily A, member 14							173.0	161.0	165.0					11																	60170536		2203	4300	6503	SO:0001630	splice_region_variant	84689					integral to membrane	receptor activity	g.chr11:60170536T>C	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.468+2T>C	11.37:g.60170536T>C						MS4A14_ENST00000531787.1_Splice_Site|MS4A14_ENST00000395001.1_Splice_Site|MS4A14_ENST00000395005.2_Splice_Site|MS4A14_ENST00000531783.1_Splice_Site		NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN			4	745	+								E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Splice_Site	SNP	ENST00000300187.6	37		CCDS31569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.474|9.474	1.096363|1.096363	0.20552|0.20552	.|.	.|.	ENSG00000166928|ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783;ENST00000395001|ENST00000534688	.|.	.|.	.|.	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.8518|10.8518	0.46775|0.46775	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|Q	-1|116	.|.	.|.	.|X	+|+	.|1	.|0	MS4A14|MS4A14	59927112|59927112	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.081000|0.081000	0.17604|0.17604	3.206000|3.206000	0.51098|0.51098	2.109000|2.109000	0.64355|0.64355	0.528000|0.528000	0.53228|0.53228	.|TAA		0.343	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2		Intron	21	57	0	0	0	0.049695	0	21	57				
CR1	1378	broad.mit.edu	37	1	207793408	207793408	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr1:207793408C>G	ENST00000367049.4	+	43	7250	c.7250C>G	c.(7249-7251)tCt>tGt	p.S2417C	CR1_ENST00000367053.1_Missense_Mutation_p.S1967C|CR1_ENST00000400960.2_Missense_Mutation_p.S1967C|CR1_ENST00000367051.1_Missense_Mutation_p.S1967C|CR1_ENST00000367052.1_Missense_Mutation_p.S1967C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1967					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AAATGTACCTCTCGTAAGTGC	0.493											OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(7249-7251)tCt>tGt		complement component (3b/4b) receptor 1 (Knops blood group)							84.0	90.0	88.0					1																	207793408		2100	4256	6356	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207793408C>G	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.7250C>G	1.37:g.207793408C>G	ENSP00000356016:p.Ser2417Cys		OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2170	CR1_ENST00000367052.1_Missense_Mutation_p.S1967C|CR1_ENST00000367051.1_Missense_Mutation_p.S1967C|CR1_ENST00000400960.2_Missense_Mutation_p.S1967C|CR1_ENST00000367053.1_Missense_Mutation_p.S1967C	p.S2417C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			43	7250	+			1967					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.7250C>G	CCDS44308.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.75|18.75	3.691148|3.691148	0.68271|0.68271	.|.	.|.	ENSG00000203710|ENSG00000203710	ENST00000529814|ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.|T;T;T;T;T	.|0.74315	.|-0.83;-0.83;-0.83;-0.83;-0.83	4.6|4.6	4.6|4.6	0.57074|0.57074	.|Sushi/SCR/CCP (1);	.|.	.|.	.|.	.|.	D|D	0.87269|0.87269	0.6135|0.6135	M|M	0.86740|0.86740	2.835|2.835	0.09310|0.09310	N|N	1|1	.|B;D	.|0.89917	.|0.438;1.0	.|P;D	.|0.83275	.|0.524;0.996	T|T	0.78718|0.78718	-0.2095|-0.2095	5|9	.|0.59425	.|D	.|0.04	.|.	13.1685|13.1685	0.59585|0.59585	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1967;2417	.|P17927;E9PDY4	.|CR1_HUMAN;.	V|C	590|1967;1967;1967;1967;2417	.|ENSP00000356019:S1967C;ENSP00000356018:S1967C;ENSP00000356020:S1967C;ENSP00000383744:S1967C;ENSP00000356016:S2417C	.|ENSP00000356016:S2417C	L|S	+|+	1|2	0|0	CR1|CR1	205860031|205860031	0.001000|0.001000	0.12720|0.12720	0.007000|0.007000	0.13788|0.13788	0.512000|0.512000	0.34134|0.34134	1.087000|1.087000	0.30865|0.30865	2.543000|2.543000	0.85770|0.85770	0.650000|0.650000	0.86243|0.86243	CTC|TCT		0.493	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		4	14	0	0	0	0.009096	0	4	14				
KCNJ4	3761	broad.mit.edu	37	22	38823814	38823814	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr22:38823814C>T	ENST00000303592.3	-	2	582	c.324G>A	c.(322-324)ccG>ccA	p.P108P	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	108	Val/Gly/Ala/Pro stretch.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TGGGGGCCACCGGGGCTGCTC	0.692																																						ENST00000303592.3																			0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(322-324)ccG>ccA		potassium inwardly-rectifying channel, subfamily J, member 4							40.0	37.0	38.0					22																	38823814		2202	4300	6502	SO:0001819	synonymous_variant	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38823814C>T	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.324G>A	22.37:g.38823814C>T							p.P108P	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN			2	582	-	Melanoma(58;0.0286)		108			Val/Gly/Ala/Pro stretch.		Q14D44	Silent	SNP	ENST00000303592.3	37	c.324G>A	CCDS13971.1																																																																																				0.692	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		15	23	0	0	0	0.020292	0	15	23				
VPS36	51028	broad.mit.edu	37	13	53007799	53007799	+	Missense_Mutation	SNP	C	C	T	rs35567300		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr13:53007799C>T	ENST00000378060.4	-	6	553	c.526G>A	c.(526-528)Gag>Aag	p.E176K	VPS36_ENST00000480923.1_5'Flank	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	176					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		ACAGTTACCTCAGAAATGTTT	0.343																																						ENST00000378060.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17						c.(526-528)Gag>Aag		vacuolar protein sorting 36 homolog (S. cerevisiae)							149.0	171.0	163.0					13																	53007799		2201	4300	6501	SO:0001583	missense	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:53007799C>T	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.526G>A	13.37:g.53007799C>T	ENSP00000367299:p.Glu176Lys						p.E176K	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	6	553	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	176					A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Missense_Mutation	SNP	ENST00000378060.4	37	c.526G>A	CCDS9434.1	.	.	.	.	.	.	.	.	.	.	.	15.93	2.979553	0.53827	.	.	ENSG00000136100	ENST00000378060	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.56046	0.1959	L	0.45470	1.425	0.80722	D	1	B	0.18863	0.031	B	0.18871	0.023	T	0.52909	-0.8512	9	0.09590	T	0.72	-7.7966	19.1901	0.93663	0.0:1.0:0.0:0.0	.	176	Q86VN1	VPS36_HUMAN	K	176	.	ENSP00000367299:E176K	E	-	1	0	VPS36	51905800	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.307000	0.78920	2.776000	0.95493	0.655000	0.94253	GAG		0.343	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			3	41	0	0	0	0.009096	0	3	41				
ELN	2006	broad.mit.edu	37	7	73474271	73474271	+	Silent	SNP	T	T	C	rs576324025	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr7:73474271T>C	ENST00000252034.7	+	23	1869	c.1470T>C	c.(1468-1470)ggT>ggC	p.G490G	CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000380584.4_Silent_p.G457G|ELN_ENST00000320492.7_Silent_p.G409G|ELN_ENST00000429192.1_Silent_p.G476G|ELN_ENST00000458204.1_Silent_p.G480G|ELN_ENST00000357036.5_Silent_p.G495G|ELN_ENST00000445912.1_Silent_p.G490G|ELN_ENST00000414324.1_Silent_p.G466G|ELN_ENST00000358929.4_Silent_p.G525G|ELN_ENST00000380576.5_Silent_p.G471G|ELN_ENST00000320399.6_Silent_p.G490G|ELN_ENST00000380562.4_Silent_p.G496G|ELN_ENST00000380553.4_Silent_p.G354G|ELN_ENST00000380575.4_Silent_p.G461G	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CTGGTGTCGGTGTGGCTCCTG	0.602			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						C|||	2	0.000399361	0.0	0.0	5008	,	,		13429	0.0		0.001	False		,,,				2504	0.001					ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1468-1470)ggT>ggC		elastin	Rofecoxib(DB00533)						213.0	200.0	204.0					7																	73474271		2203	4300	6503	SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474271T>C		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1470T>C	7.37:g.73474271T>C						ELN_ENST00000414324.1_Silent_p.G466G|ELN_ENST00000380553.4_Silent_p.G354G|ELN_ENST00000380562.4_Silent_p.G496G|ELN_ENST00000380575.4_Silent_p.G461G|ELN_ENST00000380576.5_Silent_p.G471G|ELN_ENST00000458204.1_Silent_p.G480G|ELN_ENST00000357036.5_Silent_p.G495G|ELN_ENST00000445912.1_Silent_p.G490G|ELN_ENST00000320399.6_Silent_p.G490G|ELN_ENST00000320492.7_Silent_p.G409G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.G476G|ELN_ENST00000380584.4_Silent_p.G457G|ELN_ENST00000358929.4_Silent_p.G525G	p.G490G	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			23	1869	+		Lung NSC(55;0.159)	519			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	c.1470T>C	CCDS5562.2																																																																																				0.602	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		15	173	0	0	0	0.045515	0	15	173				
IMMP2L	83943	broad.mit.edu	37	7	110303748	110303748	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr7:110303748G>A	ENST00000405709.2	-	6	880	c.438C>T	c.(436-438)gcC>gcT	p.A146A	IMMP2L_ENST00000450877.1_Silent_p.A128A|IMMP2L_ENST00000331762.3_Silent_p.A146A|IMMP2L_ENST00000452895.1_Silent_p.A146A|IMMP2L_ENST00000489381.1_5'UTR|IMMP2L_ENST00000415362.1_Silent_p.A146A	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	146					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		GGATATGTGTGGCATGGGCAT	0.418																																						ENST00000405709.2																			0				endometrium(3)|large_intestine(6)|lung(5)	14						c.(436-438)gcC>gcT		IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)							71.0	71.0	71.0					7																	110303748		2203	4300	6503	SO:0001819	synonymous_variant	83943				protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity	g.chr7:110303748G>A	AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"""IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)"", ""IMMP2L intronic transcript 1 (non-protein coding)"""	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.438C>T	7.37:g.110303748G>A						IMMP2L_ENST00000450877.1_Silent_p.A128A|IMMP2L_ENST00000331762.3_Silent_p.A146A|IMMP2L_ENST00000489381.1_5'UTR|IMMP2L_ENST00000452895.1_Silent_p.A146A|IMMP2L_ENST00000415362.1_Silent_p.A146A	p.A146A	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)	6	880	-			146					Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Silent	SNP	ENST00000405709.2	37	c.438C>T	CCDS5753.1																																																																																				0.418	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338109.4	NM_032549		6	48	0	0	0	0.029380	0	6	48				
HAUS8	93323	broad.mit.edu	37	19	17163638	17163638	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr19:17163638C>T	ENST00000253669.5	-	10	1116	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000593360.1_Missense_Mutation_p.R248Q|HAUS8_ENST00000448593.2_Missense_Mutation_p.R308Q			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	309					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						GAGGTACCTTCGGAGCTCAAG	0.527											OREG0025339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000593360.1																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						c.(742-744)cGa>cAa		HAUS augmin-like complex, subunit 8							164.0	139.0	147.0					19																	17163638		2203	4300	6503	SO:0001583	missense	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17163638C>T	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.926G>A	19.37:g.17163638C>T	ENSP00000253669:p.Arg309Gln		OREG0025339	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	715	HAUS8_ENST00000448593.2_Missense_Mutation_p.R308Q|HAUS8_ENST00000253669.5_Missense_Mutation_p.R309Q|CTD-2528A14.3_ENST00000598893.1_RNA	p.R248Q			Q9BT25	HAUS8_HUMAN			9	2761	-			309					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Missense_Mutation	SNP	ENST00000253669.5	37	c.743G>A	CCDS32948.1	.	.	.	.	.	.	.	.	.	.	C	7.729	0.698889	0.15106	.	.	ENSG00000131351	ENST00000253669;ENST00000448593	T;T	0.76186	-1.0;-1.0	4.36	-3.18	0.05186	.	1.373420	0.04743	N	0.423157	T	0.57533	0.2060	L	0.31926	0.97	0.28254	N	0.925111	B;B;B	0.24483	0.038;0.104;0.038	B;B;B	0.13407	0.009;0.009;0.009	T	0.32719	-0.9896	10	0.18710	T	0.47	.	5.2576	0.15555	0.1606:0.1828:0.0:0.6566	.	249;308;309	Q9BT25-2;C9JBZ4;Q9BT25	.;.;HAUS8_HUMAN	Q	309;308	ENSP00000253669:R309Q;ENSP00000395298:R308Q	ENSP00000253669:R309Q	R	-	2	0	HAUS8	17024638	0.111000	0.22076	0.891000	0.34965	0.045000	0.14185	-0.896000	0.04114	-0.730000	0.04869	-0.521000	0.04368	CGA		0.527	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		14	80	0	0	0	0.028581	0	14	80				
SOGA3	387104	broad.mit.edu	37	6	127796911	127796911	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr6:127796911C>T	ENST00000525778.1	-	6	3005	c.2260G>A	c.(2260-2262)Gag>Aag	p.E754K	SOGA3_ENST00000368268.2_Missense_Mutation_p.E754K|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Missense_Mutation_p.E754K|SOGA3_ENST00000556132.1_Missense_Mutation_p.E754K|SOGA3_ENST00000465909.2_Missense_Mutation_p.E754K			Q5TF21	SOGA3_HUMAN	SOGA family member 3	754					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GCGTCGCTCTCGGCGTCGCTG	0.701																																						ENST00000556132.1																			0											c.(2260-2262)Gag>Aag		SOGA family member 3							41.0	48.0	46.0					6																	127796911		2128	4236	6364	SO:0001583	missense	387104					integral to membrane		g.chr6:127796911C>T	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2260G>A	6.37:g.127796911C>T	ENSP00000434570:p.Glu754Lys					SOGA3_ENST00000525778.1_Missense_Mutation_p.E754K|SOGA3_ENST00000481848.2_Missense_Mutation_p.E754K|SOGA3_ENST00000368268.2_Missense_Mutation_p.E754K|SOGA3_ENST00000465909.2_Missense_Mutation_p.E754K	p.E754K	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			6	3124	-			754						Missense_Mutation	SNP	ENST00000525778.1	37	c.2260G>A	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	34	5.370387	0.95900	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.27663	0.0680	M	0.66939	2.045	0.80722	D	1	P	0.43287	0.802	B	0.40741	0.339	T	0.15093	-1.0449	10	0.56958	D	0.05	-23.7321	18.91	0.92479	0.0:1.0:0.0:0.0	.	754	Q5TF21	CF174_HUMAN	K	754	ENSP00000451768:E754K;ENSP00000357251:E754K;ENSP00000434570:E754K;ENSP00000435559:E754K	ENSP00000435559:E754K	E	-	1	0	C6orf174	127838604	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	7.614000	0.82996	2.476000	0.83614	0.462000	0.41574	GAG		0.701	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		11	83	0	0	0	0.093190	0	11	83				
TGM5	9333	broad.mit.edu	37	15	43545012	43545012	+	Silent	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr15:43545012G>C	ENST00000220420.5	-	6	814	c.807C>G	c.(805-807)ggC>ggG	p.G269G	TGM5_ENST00000349114.4_Silent_p.G187G	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	269					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CGGGCTGGCAGCCTGTGGCGT	0.592																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(805-807)ggC>ggG		transglutaminase 5	L-Glutamine(DB00130)						81.0	76.0	78.0					15																	43545012		2202	4299	6501	SO:0001819	synonymous_variant	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43545012G>C	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.807C>G	15.37:g.43545012G>C						TGM5_ENST00000349114.4_Silent_p.G187G	p.G269G	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	6	814	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	269					O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	37	c.807C>G	CCDS32212.1																																																																																				0.592	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		11	51	0	0	0	0.093190	0	11	51				
TP53	7157	broad.mit.edu	37	17	7574012	7574012	+	Nonsense_Mutation	SNP	C	C	A	rs17882252	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr17:7574012C>A	ENST00000269305.4	-	10	1204	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.E339*|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_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	339	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		E -> K (in a sporadic cancer; somatic mutation; dbSNP:rs17882252). {ECO:0000269|Ref.12}.|E -> Q (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E339*(14)|p.0?(8)|p.E339fs*8(2)|p.E339Q(1)|p.?(1)|p.F338fs*6(1)|p.F338_E339>L(1)|p.E339fs*13(1)|p.I332fs*5(1)|p.E339K(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)	CGGAACATCTCGAAGCGCTCA	0.537		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"""		31	Substitution - Nonsense(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(2)	p.E339*(14)|p.0?(8)|p.E339fs*8(2)|p.E339Q(1)|p.?(1)|p.F338fs*6(1)|p.F338_E339>L(1)|p.E339fs*13(1)|p.I332fs*5(1)|p.E339K(1)	upper_aerodigestive_tract(5)|breast(5)|liver(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|pancreas(2)|stomach(1)|oesophagus(1)|ovary(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	CM984588	TP53	M	rs17882252	c.(1015-1017)Gag>Tag	Other conserved DNA damage response genes	tumor protein p53							59.0	46.0	51.0					17																	7574012		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574012C>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.1015G>T	17.37:g.7574012C>A	ENSP00000269305:p.Glu339*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E339*|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron	p.E339*	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	1204	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	339		E -> K (in a sporadic cancer; somatic mutation; dbSNP:rs17882252).|E -> Q (in a sporadic cancer; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.1015G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	35	5.547605	0.96488	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.43	4.44	0.53790	.	0.053822	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-17.4901	10.1064	0.42535	0.0:0.8944:0.0:0.1056	.	.	.	.	X	339;339;328	.	ENSP00000269305:E339X	E	-	1	0	TP53	7514737	0.991000	0.36638	0.794000	0.32065	0.424000	0.31475	2.924000	0.48876	1.194000	0.43101	0.561000	0.74099	GAG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	10	1	0	0.014758	0.014758	0.015692	5	10				
ELN	2006	broad.mit.edu	37	7	73474265	73474265	+	Silent	SNP	T	T	A	rs199944074		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr7:73474265T>A	ENST00000252034.7	+	23	1863	c.1464T>A	c.(1462-1464)ggT>ggA	p.G488G	CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000380584.4_Silent_p.G455G|ELN_ENST00000320492.7_Silent_p.G407G|ELN_ENST00000429192.1_Silent_p.G474G|ELN_ENST00000458204.1_Silent_p.G478G|ELN_ENST00000357036.5_Silent_p.G493G|ELN_ENST00000445912.1_Silent_p.G488G|ELN_ENST00000414324.1_Silent_p.G464G|ELN_ENST00000358929.4_Silent_p.G523G|ELN_ENST00000380576.5_Silent_p.G469G|ELN_ENST00000320399.6_Silent_p.G488G|ELN_ENST00000380562.4_Silent_p.G494G|ELN_ENST00000380553.4_Silent_p.G352G|ELN_ENST00000380575.4_Silent_p.G459G	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TGGCTCCTGGTGTCGGTGTGG	0.602			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						T|||	1	0.000199681	0.0	0.0	5008	,	,		13855	0.0		0.0	False		,,,				2504	0.001					ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1462-1464)ggT>ggA		elastin	Rofecoxib(DB00533)																																			SO:0001819	synonymous_variant	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474265T>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1464T>A	7.37:g.73474265T>A						ELN_ENST00000414324.1_Silent_p.G464G|ELN_ENST00000380553.4_Silent_p.G352G|ELN_ENST00000380562.4_Silent_p.G494G|ELN_ENST00000380575.4_Silent_p.G459G|ELN_ENST00000380576.5_Silent_p.G469G|ELN_ENST00000458204.1_Silent_p.G478G|ELN_ENST00000357036.5_Silent_p.G493G|ELN_ENST00000445912.1_Silent_p.G488G|ELN_ENST00000320399.6_Silent_p.G488G|ELN_ENST00000320492.7_Silent_p.G407G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.G474G|ELN_ENST00000380584.4_Silent_p.G455G|ELN_ENST00000358929.4_Silent_p.G523G	p.G488G	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			23	1863	+		Lung NSC(55;0.159)	517			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	ENST00000252034.7	37	c.1464T>A	CCDS5562.2																																																																																				0.602	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		9	174	0	0	0	0.108266	0	9	174				
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs62538181|rs200215881		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433																																						ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(3739-3741)atG>atC		contactin associated protein-like 3B																																				SO:0001583	missense	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43915893G>C	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.3741G>C	9.37:g.43915893G>C	ENSP00000366787:p.Met1247Ile						p.M1247I	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			23	4134	+			1247					B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	ENST00000377564.3	37	c.3741G>C	CCDS55312.1	.	.	.	.	.	.	.	.	.	.	C	1.267	-0.614036	0.03690	.	.	ENSG00000154529	ENST00000377564;ENST00000377555	T	0.23552	1.9	2.87	-2.82	0.05787	.	.	.	.	.	T	0.03053	0.0090	N	0.00018	-2.82	0.09310	P	0.9999999999977237	B	0.02656	0.0	B	0.01281	0.0	T	0.44267	-0.9339	8	0.11794	T	0.64	.	7.2283	0.26028	0.0:0.1691:0.1448:0.6861	.	161	E9PBG0	.	I	1247;161	ENSP00000366787:M1247I	ENSP00000366778:M161I	M	+	3	0	CNTNAP3B	43855889	0.990000	0.36364	0.901000	0.35422	0.347000	0.29111	0.022000	0.13511	-1.052000	0.03222	-2.091000	0.00372	ATG		0.433	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			3	32	0	0	0	0.004672	0	3	32				
PISD	23761	broad.mit.edu	37	22	32017676	32017676	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr22:32017676G>A	ENST00000439502.2	-	4	740	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L	PISD_ENST00000382151.2_Silent_p.L139L|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000397500.1_Silent_p.L139L|PISD_ENST00000266095.5_Silent_p.L139L|PISD_ENST00000336566.4_Silent_p.L173L			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	173					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylserine decarboxylase activity (GO:0004609)			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGCGGCTTCAGCTTGCGCCGG	0.602																																						ENST00000382151.2																			0				central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12						c.(415-417)Ctg>Ttg		phosphatidylserine decarboxylase	Phosphatidylserine(DB00144)						42.0	41.0	42.0					22																	32017676		2202	4299	6501	SO:0001819	synonymous_variant	23761				phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity	g.chr22:32017676G>A		CCDS13899.1	22q12.2	2011-01-25			ENSG00000241878	ENSG00000241878	4.1.1.65		8999	protein-coding gene	gene with protein product		612770				10591208	Standard	NM_014338		Approved	dJ858B16.2, PSDC	uc003alk.2	Q9UG56	OTTHUMG00000030252	ENST00000439502.2:c.517C>T	22.37:g.32017676G>A						PISD_ENST00000266095.5_Silent_p.L139L|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000439502.2_Silent_p.L173L|PISD_ENST00000397500.1_Silent_p.L139L|PISD_ENST00000336566.4_Silent_p.L173L	p.L139L			Q9UG56	PISD_HUMAN			4	834	-			173					B1AKM7|O43207|O95535|Q6IC28|Q96GQ2|Q9UGA9	Silent	SNP	ENST00000439502.2	37	c.415C>T																																																																																					0.602	PISD-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000075106.4			5	29	0	0	0	0.021553	0	5	29				
ERAP1	51752	broad.mit.edu	37	5	96121595	96121595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr5:96121595C>T	ENST00000443439.2	-	13	1906	c.1840G>A	c.(1840-1842)Gat>Aat	p.D614N	ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000602972.1_RNA|ERAP1_ENST00000296754.3_Missense_Mutation_p.D614N|CTD-2260A17.1_ENST00000512856.1_RNA	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	614					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CATCCATCATCCTCGTAATGC	0.413																																						ENST00000296754.3																			0				endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19						c.(1840-1842)Gat>Aat		endoplasmic reticulum aminopeptidase 1							153.0	122.0	133.0					5																	96121595		2203	4300	6503	SO:0001583	missense	51752				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding	g.chr5:96121595C>T	AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.1840G>A	5.37:g.96121595C>T	ENSP00000406304:p.Asp614Asn					ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA|ERAP1_ENST00000443439.2_Missense_Mutation_p.D614N|CTD-2260A17.1_ENST00000602972.1_RNA	p.D614N	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)	13	2097	-		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)	614					O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	ENST00000443439.2	37	c.1840G>A	CCDS47250.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700701	0.48307	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384	T;T	0.06371	3.31;3.31	5.77	4.91	0.64330	.	0.232644	0.44483	D	0.000455	T	0.10423	0.0255	M	0.66939	2.045	0.50313	D	0.999864	B;B;B	0.10296	0.0;0.001;0.003	B;B;B	0.12837	0.001;0.008;0.004	T	0.03354	-1.1045	10	0.36615	T	0.2	.	14.7055	0.69186	0.0:0.9299:0.0:0.0701	.	614;614;614	A8K6H1;Q9NZ08;Q9NZ08-2	.;ERAP1_HUMAN;.	N	614	ENSP00000296754:D614N;ENSP00000406304:D614N	ENSP00000296754:D614N	D	-	1	0	ERAP1	96147351	0.783000	0.28701	1.000000	0.80357	0.798000	0.45092	1.947000	0.40293	1.446000	0.47643	-0.254000	0.11334	GAT		0.413	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370699.1	NM_016442		4	49	0	0	0	0.009096	0	4	49				
CNN1	1264	broad.mit.edu	37	19	11651894	11651894	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr19:11651894G>A	ENST00000252456.2	+	2	278	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	CNN1_ENST00000535659.2_5'UTR|CNN1_ENST00000544952.1_Missense_Mutation_p.A3T|CNN1_ENST00000592923.1_5'UTR|CNN1_ENST00000588468.1_3'UTR	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	23					actomyosin structure organization (GO:0031032)|regulation of smooth muscle contraction (GO:0006940)	cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GCCCCAGCTGGCCCAGAAGTA	0.632																																						ENST00000252456.2																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						c.(67-69)Gcc>Acc		calponin 1, basic, smooth muscle							33.0	28.0	30.0					19																	11651894		2203	4300	6503	SO:0001583	missense	1264				actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding	g.chr19:11651894G>A	U37019	CCDS12263.1	19p13.2-p13.1	2008-07-16				ENSG00000130176			2155	protein-coding gene	gene with protein product		600806				8526917, 9332369	Standard	XM_005259741		Approved	SMCC, Sm-Calp	uc002msc.1	P51911		ENST00000252456.2:c.67G>A	19.37:g.11651894G>A	ENSP00000252456:p.Ala23Thr					CNN1_ENST00000535659.2_5'UTR|CNN1_ENST00000592923.1_5'UTR|CNN1_ENST00000588468.1_3'UTR|CNN1_ENST00000544952.1_Missense_Mutation_p.A3T	p.A23T	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN			2	278	+			23					B2R868|B4DUX6|O00638|Q15416|Q8IY93|Q99438	Missense_Mutation	SNP	ENST00000252456.2	37	c.67G>A	CCDS12263.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815271	0.70912	.	.	ENSG00000130176	ENST00000252456;ENST00000544952	T;T	0.60424	0.19;0.19	5.1	5.1	0.69264	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.62792	0.2457	M	0.85945	2.785	0.80722	D	1	B	0.12013	0.005	B	0.15484	0.013	T	0.61758	-0.6997	10	0.23302	T	0.38	-40.5584	17.2865	0.87143	0.0:0.0:1.0:0.0	.	23	P51911	CNN1_HUMAN	T	23;3	ENSP00000252456:A23T;ENSP00000437470:A3T	ENSP00000252456:A23T	A	+	1	0	CNN1	11512894	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.661000	0.98601	2.378000	0.81104	0.549000	0.68633	GCC		0.632	CNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458854.1	NM_001299		3	14	0	0	0	0.004672	0	3	14				
RSBN1	54665	broad.mit.edu	37	1	114354936	114354936	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr1:114354936C>T	ENST00000261441.5	-	1	162	c.99G>A	c.(97-99)gcG>gcA	p.A33A	RP5-1073O3.2_ENST00000418238.1_RNA|RP5-1073O3.2_ENST00000429398.1_RNA	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	33						nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCCCCCGTCCGCGCATCGCG	0.672																																						ENST00000261441.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(97-99)gcG>gcA		round spermatid basic protein 1							23.0	32.0	29.0					1																	114354936		2198	4293	6491	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114354936C>T	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.99G>A	1.37:g.114354936C>T							p.A33A	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	162	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	33					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.99G>A	CCDS862.1																																																																																				0.672	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		4	53	0	0	0	0.014758	0	4	53				
DNAH8	1769	broad.mit.edu	37	6	38704881	38704881	+	Silent	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr6:38704881C>G	ENST00000359357.3	+	4	404	c.150C>G	c.(148-150)ctC>ctG	p.L50L	DNAH8_ENST00000441566.1_Silent_p.L50L|DNAH8_ENST00000449981.2_Silent_p.L267L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	50					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						CGAAAGGACTCTTAAATGGAA	0.398																																						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.(148-150)ctC>ctG		dynein, axonemal, heavy chain 8							106.0	105.0	105.0					6																	38704881		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38704881C>G	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.150C>G	6.37:g.38704881C>G						DNAH8_ENST00000449981.2_Silent_p.L267L|DNAH8_ENST00000441566.1_Silent_p.L50L	p.L50L							4	404	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.150C>G																																																																																					0.398	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		5	83	0	0	0	0.029380	0	5	83				
ACO1	48	broad.mit.edu	37	9	32423392	32423392	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr9:32423392C>T	ENST00000309951.6	+	9	1184	c.1046C>T	c.(1045-1047)cCt>cTt	p.P349L	ACO1_ENST00000541043.1_Missense_Mutation_p.P250L|ACO1_ENST00000379923.1_Missense_Mutation_p.P349L	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	349					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTCAATGACCCTTCTCAAGAC	0.398																																						ENST00000379923.1																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(1045-1047)cCt>cTt		aconitase 1, soluble							117.0	113.0	114.0					9																	32423392		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32423392C>T	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.1046C>T	9.37:g.32423392C>T	ENSP00000309477:p.Pro349Leu					ACO1_ENST00000309951.5_Missense_Mutation_p.P349L|ACO1_ENST00000541043.1_Missense_Mutation_p.P250L	p.P349L	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	10	1252	+			349					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.1046C>T	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261284	0.39995	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.18960	2.18;2.18;2.18	6.17	4.33	0.51752	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.697247	0.15627	N	0.252613	T	0.20740	0.0499	L	0.43152	1.355	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.16722	0.009;0.016	T	0.18366	-1.0339	10	0.87932	D	0	2.1851	11.4911	0.50381	0.0:0.8057:0.126:0.0683	.	385;349	Q59FI0;P21399	.;ACOC_HUMAN	L	385;349;349;349;250	ENSP00000309477:P349L;ENSP00000369255:P349L;ENSP00000438733:P250L	ENSP00000309477:P349L	P	+	2	0	ACO1	32413392	0.002000	0.14202	0.137000	0.22149	0.994000	0.84299	1.858000	0.39408	0.923000	0.37045	0.655000	0.94253	CCT		0.398	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		6	43	0	0	0	0.029380	0	6	43				
ZNF423	23090	broad.mit.edu	37	16	49672378	49672378	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr16:49672378G>A	ENST00000561648.1	-	4	738	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	ZNF423_ENST00000567169.1_Missense_Mutation_p.R112C|ZNF423_ENST00000535559.1_Missense_Mutation_p.R112C|ZNF423_ENST00000562871.1_Missense_Mutation_p.R169C|ZNF423_ENST00000563137.2_Missense_Mutation_p.R169C|ZNF423_ENST00000562520.1_Missense_Mutation_p.R169C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R229C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	229					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GAGAAGCCGCGCTTGCACACA	0.597																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(685-687)Cgc>Tgc		zinc finger protein 423							65.0	49.0	55.0					16																	49672378		2198	4298	6496	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672378G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.685C>T	16.37:g.49672378G>A	ENSP00000455426:p.Arg229Cys					ZNF423_ENST00000562520.1_Missense_Mutation_p.R169C|ZNF423_ENST00000562871.1_Missense_Mutation_p.R169C|ZNF423_ENST00000535559.1_Missense_Mutation_p.R112C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R229C|ZNF423_ENST00000563137.2_Missense_Mutation_p.R169C|ZNF423_ENST00000567169.1_Missense_Mutation_p.R112C	p.R229C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	738	-		all_cancers(37;0.0155)	229					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.685C>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089046	0.55968	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.19806	2.12;2.12	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.47507	0.1449	M	0.72576	2.205	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.43114	-0.9411	9	.	.	.	.	18.3069	0.90185	0.0:0.0:1.0:0.0	.	229	Q2M1K9	ZN423_HUMAN	C	229;112	ENSP00000262383:R229C;ENSP00000442321:R112C	.	R	-	1	0	ZNF423	48229879	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.497000	0.73674	2.331000	0.79229	0.561000	0.74099	CGC		0.597	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		6	46	0	0	0	0.021553	0	6	46				
IRX1	79192	broad.mit.edu	37	5	3600115	3600115	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr5:3600115G>A	ENST00000302006.3	+	2	1105	c.1053G>A	c.(1051-1053)ccG>ccA	p.P351P	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	351					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ccggggcgccgcTGCAACACC	0.721																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1051-1053)ccG>ccA		iroquois homeobox 1							19.0	15.0	16.0					5																	3600115		2142	4224	6366	SO:0001819	synonymous_variant	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3600115G>A	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1053G>A	5.37:g.3600115G>A						CTD-2012M11.3_ENST00000559410.1_RNA	p.P351P	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			2	1105	+			351					Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	37	c.1053G>A	CCDS34132.1																																																																																				0.721	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		5	9	0	0	0	0.014758	0	5	9				
MAP1B	4131	broad.mit.edu	37	5	71491407	71491407	+	Missense_Mutation	SNP	C	C	T	rs570357353	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr5:71491407C>T	ENST00000296755.7	+	5	2523	c.2225C>T	c.(2224-2226)tCa>tTa	p.S742L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	742	Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).				axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GCAAAGAAATCATCTACTCCT	0.393													C|||	3	0.000599042	0.0	0.0	5008	,	,		19167	0.0		0.0	False		,,,				2504	0.0031				Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(2224-2226)tCa>tTa		microtubule-associated protein 1B							62.0	67.0	66.0					5																	71491407		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71491407C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2225C>T	5.37:g.71491407C>T	ENSP00000296755:p.Ser742Leu						p.S742L	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	2523	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	742			Lys-rich (highly basic, contains many KKEE and KKEI/V repeats).		A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.2225C>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	0.236	-1.017599	0.02078	.	.	ENSG00000131711	ENST00000296755	T	0.20463	2.07	5.13	2.99	0.34606	.	0.788128	0.11371	N	0.570902	T	0.14184	0.0343	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22277	-1.0221	10	0.27785	T	0.31	1.0794	9.9795	0.41804	0.0:0.7493:0.0:0.2507	.	616;742	A2BDK6;P46821	.;MAP1B_HUMAN	L	742	ENSP00000296755:S742L	ENSP00000296755:S742L	S	+	2	0	MAP1B	71527163	0.001000	0.12720	0.016000	0.15963	0.017000	0.09413	1.472000	0.35376	1.159000	0.42565	-0.253000	0.11424	TCA		0.393	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		8	77	0	0	0	0.047766	0	8	77				
CSNK2B	1460	broad.mit.edu	37	6	31635648	31635648	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr6:31635648G>C	ENST00000375882.2	+	3	232	c.76G>C	c.(76-78)Gat>Cat	p.D26H	GPANK1_ENST00000375900.4_5'Flank|GPANK1_ENST00000375895.2_5'Flank|CSNK2B_ENST00000375866.2_Missense_Mutation_p.D26H|GPANK1_ENST00000375906.1_5'Flank|GPANK1_ENST00000375896.4_5'Flank|GPANK1_ENST00000375893.2_5'Flank|LY6G5B_ENST00000409525.1_5'Flank|CSNK2B_ENST00000375885.4_Missense_Mutation_p.D45H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.D26H|CSNK2B-LY6G5B-1181_ENST00000375880.2_Missense_Mutation_p.D26H|LY6G5B_ENST00000375864.4_5'Flank	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	26					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						CTGACAGGTGGATGAAGACTA	0.458																																						ENST00000375880.2																			0											c.(76-78)Gat>Cat									107.0	96.0	100.0					6																	31635648		2203	4300	6503	SO:0001583	missense	1460							g.chr6:31635648G>C	M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.76G>C	6.37:g.31635648G>C	ENSP00000365042:p.Asp26His					CSNK2B_ENST00000375866.2_Missense_Mutation_p.D26H|CSNK2B_ENST00000375882.2_Missense_Mutation_p.D26H|CSNK2B_ENST00000375885.4_Missense_Mutation_p.D45H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.D26H	p.D26H							3	194	+								B0UXA9|P07312|P13862|Q4VX47	Missense_Mutation	SNP	ENST00000375882.2	37	c.76G>C	CCDS4712.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769146	0.90020	.	.	ENSG00000204435	ENST00000375885;ENST00000375882;ENST00000375880;ENST00000375865;ENST00000375866	.	.	.	5.64	5.64	0.86602	Casein kinase II, regulatory subunit, alpha-helical (1);	0.049081	0.85682	N	0.000000	D	0.83175	0.5197	M	0.91717	3.235	0.58432	D	0.999997	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.69479	0.936;0.964;0.936	D	0.86601	0.1866	8	0.87932	D	0	-13.207	17.1949	0.86890	0.0:0.0:1.0:0.0	.	26;26;26	B0UXA9;Q5SRQ3;P67870	.;.;CSK2B_HUMAN	H	45;26;26;26;26	.	ENSP00000365025:D26H	D	+	1	0	CSNK2B	31743627	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.013000	0.93629	2.654000	0.90174	0.655000	0.94253	GAT		0.458	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8	NM_001320		13	20	0	0	0	0.093190	0	13	20				
CLASRP	11129	broad.mit.edu	37	19	45555410	45555410	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr19:45555410G>C	ENST00000221455.3	+	3	279	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	CLASRP_ENST00000544944.2_Missense_Mutation_p.E61Q|CLASRP_ENST00000391953.4_Intron	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	61					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						CCTGGCCGCTGAGAGCCCTGT	0.562																																						ENST00000544944.2																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						c.(181-183)Gag>Cag		CLK4-associating serine/arginine rich protein							77.0	70.0	72.0					19																	45555410		2203	4300	6503	SO:0001583	missense	11129				mRNA processing|RNA splicing	nucleus		g.chr19:45555410G>C	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.181G>C	19.37:g.45555410G>C	ENSP00000221455:p.Glu61Gln					CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000221455.3_Missense_Mutation_p.E61Q	p.E61Q			Q8N2M8	CLASR_HUMAN			2	873	+			61					B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	c.181G>C	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702753	0.88924	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000544944	T;T;T	0.27890	1.64;1.64;1.64	5.03	5.03	0.67393	Splicing factor, suppressor of white apricot (1);	0.000000	0.36628	U	0.002499	T	0.48409	0.1498	L	0.46741	1.465	0.80722	D	1	D;D	0.76494	0.993;0.999	P;D	0.73708	0.886;0.981	T	0.38243	-0.9670	10	0.49607	T	0.09	-26.5213	15.9207	0.79570	0.0:0.0:1.0:0.0	.	61;61	F5H0Q6;Q8N2M8	.;CLASR_HUMAN	Q	61	ENSP00000221455:E61Q;ENSP00000375814:E61Q;ENSP00000438702:E61Q	ENSP00000221455:E61Q	E	+	1	0	CLASRP	50247250	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	8.713000	0.91408	2.620000	0.88729	0.655000	0.94253	GAG		0.562	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316749.1	NM_007056		4	49	0	0	0	0.009096	0	4	49				
GPR4	2828	broad.mit.edu	37	19	46094975	46094975	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr19:46094975G>A	ENST00000323040.4	-	2	1094	c.150C>T	c.(148-150)aaC>aaT	p.N50N	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	50					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCCCAGCTCGTTGCGCTGTT	0.617																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	ENST00000323040.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(148-150)aaC>aaT		G protein-coupled receptor 4							87.0	70.0	76.0					19																	46094975		2203	4300	6503	SO:0001819	synonymous_variant	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094975G>A	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.150C>T	19.37:g.46094975G>A						OPA3_ENST00000544371.1_Intron	p.N50N	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	2	1094	-			50					A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000323040.4	37	c.150C>T	CCDS12669.1																																																																																				0.617	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282		18	46	0	0	0	0.038395	0	18	46				
UBR5	51366	broad.mit.edu	37	8	103309160	103309160	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr8:103309160G>A	ENST00000520539.1	-	28	4232	c.3626C>T	c.(3625-3627)aCg>aTg	p.T1209M	UBR5_ENST00000220959.4_Missense_Mutation_p.T1209M|UBR5_ENST00000521922.1_Missense_Mutation_p.T1203M	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1209					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)			TGCACATTCCGTACAACAACA	0.318																																					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.(3625-3627)aCg>aTg		ubiquitin protein ligase E3 component n-recognin 5							70.0	69.0	69.0					8																	103309160		2203	4300	6503	SO:0001583	missense	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.chr8:103309160G>A	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.3626C>T	8.37:g.103309160G>A	ENSP00000429084:p.Thr1209Met					UBR5_ENST00000521922.1_Missense_Mutation_p.T1203M|UBR5_ENST00000220959.4_Missense_Mutation_p.T1209M	p.T1209M	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		28	4232	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		1209					B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.3626C>T	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018014	0.93404	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	D;D;D	0.82803	-1.65;-1.65;-1.65	5.66	5.66	0.87406	Zinc finger, N-recognin, metazoa (1);Zinc finger, N-recognin (2);	0.105732	0.64402	D	0.000006	D	0.91713	0.7380	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.91858	0.5497	10	0.87932	D	0	.	20.1225	0.97967	0.0:0.0:1.0:0.0	.	1203;1209	E7EMW7;O95071	.;UBR5_HUMAN	M	1209;1209;1203	ENSP00000429084:T1209M;ENSP00000220959:T1209M;ENSP00000427819:T1203M	ENSP00000220959:T1209M	T	-	2	0	UBR5	103378336	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.567000	0.98161	2.831000	0.97527	0.650000	0.86243	ACG		0.318	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		4	33	0	0	0	0.014758	0	4	33				
ACTL6B	51412	broad.mit.edu	37	7	100246281	100246281	+	Silent	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr7:100246281G>A	ENST00000160382.5	-	7	673	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	189					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|nervous system development (GO:0007399)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	structural constituent of cytoskeleton (GO:0005200)|transcription coactivator activity (GO:0003713)			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGACTTGACGATGCCTAGAA	0.597																																						ENST00000160382.5																			0				endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13						c.(565-567)atC>atT		actin-like 6B							75.0	66.0	69.0					7																	100246281		2203	4300	6503	SO:0001819	synonymous_variant	51412				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	g.chr7:100246281G>A	AB015906	CCDS5702.1	7q22	2008-02-01	2004-07-12	2004-07-14	ENSG00000077080	ENSG00000077080			160	protein-coding gene	gene with protein product		612458	"""actin-like 6"""	ACTL6		9799793	Standard	NM_016188		Approved	BAF53B	uc003uvy.3	O94805	OTTHUMG00000159661	ENST00000160382.5:c.567C>T	7.37:g.100246281G>A							p.I189I	NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN			7	673	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		189					A4D2D0|O75421	Silent	SNP	ENST00000160382.5	37	c.567C>T	CCDS5702.1																																																																																				0.597	ACTL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356745.1	NM_016188		9	13	0	0	0	0.058154	0	9	13				
EVI5	7813	broad.mit.edu	37	1	93167729	93167729	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr1:93167729C>T	ENST00000370331.1	-	5	749	c.740G>A	c.(739-741)aGt>aAt	p.S247N	EVI5_ENST00000543509.1_Missense_Mutation_p.S247N|EVI5_ENST00000540033.1_Missense_Mutation_p.S247N|RNU4-59P_ENST00000364447.1_RNA	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	247	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TATAAAAGCACTTCCTTGACA	0.308																																						ENST00000370331.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38						c.(739-741)aGt>aAt		ecotropic viral integration site 5							77.0	72.0	74.0					1																	93167729		2203	4299	6502	SO:0001583	missense	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93167729C>T	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.740G>A	1.37:g.93167729C>T	ENSP00000359356:p.Ser247Asn					EVI5_ENST00000540033.1_Missense_Mutation_p.S247N|EVI5_ENST00000543509.1_Missense_Mutation_p.S247N	p.S247N	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	5	749	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	247			Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC.		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	c.740G>A	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373381	0.82573	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.11277	2.79;2.79;2.79	5.61	5.61	0.85477	Rab-GAP/TBC domain (4);	0.074260	0.85682	D	0.000000	T	0.23688	0.0573	M	0.69248	2.105	0.80722	D	1	D;D	0.55605	0.966;0.972	P;P	0.61592	0.825;0.891	T	0.00583	-1.1659	10	0.87932	D	0	-11.0731	19.6275	0.95684	0.0:1.0:0.0:0.0	.	247;247	F5H4R0;O60447	.;EVI5_HUMAN	N	247	ENSP00000359356:S247N;ENSP00000440826:S247N;ENSP00000445019:S247N	ENSP00000359356:S247N	S	-	2	0	EVI5	92940317	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.711000	0.84669	2.654000	0.90174	0.650000	0.86243	AGT		0.308	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		8	34	0	0	0	0.058154	0	8	34				
NID1	4811	broad.mit.edu	37	1	236180536	236180536	+	Silent	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr1:236180536C>T	ENST00000264187.6	-	10	2248	c.2166G>A	c.(2164-2166)ggG>ggA	p.G722G	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	722	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	TTGTGTGGCTCCCACACACTG	0.433																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(2164-2166)ggG>ggA		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						173.0	160.0	165.0					1																	236180536		2203	4300	6503	SO:0001819	synonymous_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236180536C>T	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.2166G>A	1.37:g.236180536C>T						NID1_ENST00000366595.3_Intron	p.G722G	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		10	2248	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	722			EGF-like 3; calcium-binding (Potential).		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	c.2166G>A	CCDS1608.1																																																																																				0.433	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		18	93	0	0	0	0.043863	0	18	93				
GLO1	2739	broad.mit.edu	37	6	38670758	38670758	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr6:38670758G>A	ENST00000373365.4	-	1	159	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S		NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	25					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	TTGGTACTGGGGTCCGCGTCG	0.711																																						ENST00000373365.4																			0				lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6						c.(73-75)Ccc>Tcc		glyoxalase I	Glutathione(DB00143)						15.0	17.0	16.0					6																	38670758		2198	4292	6490	SO:0001583	missense	2739				anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding	g.chr6:38670758G>A	L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"""glyoxalase domain containing 1"""	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.73C>T	6.37:g.38670758G>A	ENSP00000362463:p.Pro25Ser						p.P25S	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN			1	159	-			25					B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Missense_Mutation	SNP	ENST00000373365.4	37	c.73C>T	CCDS4837.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639396	0.67244	.	.	ENSG00000124767	ENST00000373365	T	0.28666	1.6	5.65	5.65	0.86999	.	0.050126	0.85682	D	0.000000	T	0.09512	0.0234	N	0.08118	0	0.51767	D	0.999934	B	0.18863	0.031	B	0.17433	0.018	T	0.06391	-1.0829	10	0.41790	T	0.15	-12.3174	15.093	0.72211	0.0:0.0:1.0:0.0	.	25	Q04760	LGUL_HUMAN	S	25	ENSP00000362463:P25S	ENSP00000362463:P25S	P	-	1	0	GLO1	38778736	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.140000	0.58031	2.941000	0.99782	0.655000	0.94253	CCC		0.711	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040438.2	NM_006708		3	23	0	0	0	0.009096	0	3	23				
TPCN2	219931	broad.mit.edu	37	11	68822187	68822187	+	Splice_Site	SNP	A	A	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr11:68822187A>G	ENST00000294309.3	+	3	275		c.e3-1		TPCN2_ENST00000542467.1_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTTCGCTTGTAGTACCGCTCC	0.577																																						ENST00000294309.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32						c.e3-1		two pore segment channel 2							153.0	90.0	111.0					11																	68822187		2200	4294	6494	SO:0001630	splice_region_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68822187A>G	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.175-1A>G	11.37:g.68822187A>G						TPCN2_ENST00000542467.1_Splice_Site		NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		3	275	+								Q9NT82	Splice_Site	SNP	ENST00000294309.3	37		CCDS8189.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.802832	0.31869	.	.	ENSG00000162341	ENST00000294309;ENST00000542467	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3241	0.60449	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPCN2	68578763	1.000000	0.71417	0.952000	0.39060	0.260000	0.26232	7.449000	0.80643	1.708000	0.51301	0.379000	0.24179	.		0.577	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075	Intron	6	25	0	0	0	0.038147	0	6	25				
UPF2	26019	broad.mit.edu	37	10	11973704	11973704	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr10:11973704C>G	ENST00000356352.2	-	19	4097	c.3624G>C	c.(3622-3624)gaG>gaC	p.E1208D	UPF2_ENST00000357604.5_Missense_Mutation_p.E1208D|UPF2_ENST00000397053.2_Missense_Mutation_p.E1208D			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1208	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTCTCATCCTCTCTTCTTGTT	0.373																																						ENST00000356352.2																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56						c.(3622-3624)gaG>gaC		UPF2 regulator of nonsense transcripts homolog (yeast)							216.0	198.0	204.0					10																	11973704		2203	4300	6503	SO:0001583	missense	26019				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	g.chr10:11973704C>G	AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.3624G>C	10.37:g.11973704C>G	ENSP00000348708:p.Glu1208Asp					UPF2_ENST00000357604.5_Missense_Mutation_p.E1208D|UPF2_ENST00000397053.2_Missense_Mutation_p.E1208D	p.E1208D			Q9HAU5	RENT2_HUMAN			19	4097	-		Renal(717;0.228)	1208			Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	c.3624G>C	CCDS7086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.39|16.39	3.109996|3.109996	0.56398|0.56398	.|.	.|.	ENSG00000151461|ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053|ENST00000359268	T;T;T|.	0.63913|.	-0.07;-0.07;-0.07|.	6.08|6.08	-0.863|-0.863	0.10669|0.10669	Up-frameshift suppressor 2 (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.67767|0.67767	0.2928|0.2928	M|M	0.72576|0.72576	2.205|2.205	0.45354|0.45354	D|D	0.99834|0.99834	B|.	0.25809|.	0.135|.	B|.	0.34418|.	0.182|.	T|T	0.67027|0.67027	-0.5774|-0.5774	10|7	0.56958|0.56958	D|D	0.05|0.05	.|.	10.6164|10.6164	0.45454|0.45454	0.0:0.5722:0.0:0.4278|0.0:0.5722:0.0:0.4278	.|.	1208|.	Q9HAU5|.	RENT2_HUMAN|.	D|Q	1208|113	ENSP00000348708:E1208D;ENSP00000350221:E1208D;ENSP00000380244:E1208D|.	ENSP00000348708:E1208D|ENSP00000352213:E113Q	E|E	-|-	3|1	2|0	UPF2|UPF2	12013710|12013710	0.996000|0.996000	0.38824|0.38824	0.983000|0.983000	0.44433|0.44433	0.987000|0.987000	0.75469|0.75469	0.489000|0.489000	0.22387|0.22387	-0.294000|-0.294000	0.08973|0.08973	-0.736000|-0.736000	0.03550|0.03550	GAG|GAG		0.373	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			10	58	0	0	0	0.080935	0	10	58				
HCRTR1	3061	broad.mit.edu	37	1	32084929	32084931	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr1:32084929_32084931delGAG	ENST00000373706.5	+	1	289_291	c.136_138delGAG	c.(136-138)gagdel	p.E46del	HCRTR1_ENST00000373705.1_In_Frame_Del_p.E46del|HCRTR1_ENST00000403528.2_In_Frame_Del_p.E46del|HCRTR1_ENST00000468521.1_3'UTR			O43613	OX1R_HUMAN	hypocretin (orexin) receptor 1	46					feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|orexin receptor activity (GO:0016499)|peptide hormone binding (GO:0017046)			breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		AAAACAGTATGAGTGGGTCCTCA	0.606																																						ENST00000403528.2																			0				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7						c.(136-138)del		hypocretin (orexin) receptor 1																																				SO:0001651	inframe_deletion	3061				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane		g.chr1:32084929_32084931delGAG	AF041243	CCDS344.1	1p33	2012-08-08			ENSG00000121764	ENSG00000121764		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4848	protein-coding gene	gene with protein product		602392				9491897	Standard	NM_001525		Approved	OX1R	uc009vtx.2	O43613	OTTHUMG00000003876	ENST00000373706.5:c.136_138delGAG	1.37:g.32084929_32084931delGAG	ENSP00000362810:p.Glu46del					HCRTR1_ENST00000373705.1_In_Frame_Del_p.E46del|HCRTR1_ENST00000373706.5_In_Frame_Del_p.E46del|HCRTR1_ENST00000468521.1_3'UTR	p.E46del	NM_001525.2	NP_001516.2	O43613	OX1R_HUMAN		STAD - Stomach adenocarcinoma(196;0.053)	3	521_523	+		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)	46					A8K3A6|Q9HBV6	In_Frame_Del	DEL	ENST00000373706.5	37	c.136_138delGAG	CCDS344.1																																																																																				0.606	HCRTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011042.1	NM_001525		27	110						27	110	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190203579	190203579	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr1:190203579C>T	ENST00000367462.3	-	5	878	c.647G>A	c.(646-648)gGc>gAc	p.G216D	BRINP3_ENST00000534846.1_Missense_Mutation_p.G114D	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	216	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GTTACTGCAGCCAAGAGGACC	0.378																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(646-648)gGc>gAc									135.0	117.0	123.0					1																	190203579		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190203579C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.647G>A	1.37:g.190203579C>T	ENSP00000356432:p.Gly216Asp					FAM5C_ENST00000534846.1_Missense_Mutation_p.G114D|FAM5C_ENST00000484105.1_5'UTR	p.G216D	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			5	878	-	Prostate(682;0.198)		216					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.647G>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158763	0.78226	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.26660	1.98;1.72	5.87	5.87	0.94306	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.52071	-0.8624	10	0.87932	D	0	.	17.6929	0.88273	0.0:1.0:0.0:0.0	.	114;216	B7Z260;Q76B58	.;FAM5C_HUMAN	D	216;114	ENSP00000356432:G216D;ENSP00000438022:G114D	ENSP00000356432:G216D	G	-	2	0	FAM5C	188470202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.706000	0.84615	2.775000	0.95449	0.650000	0.86243	GGC		0.378	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		9	51	0	0	0	0.069234	0	9	51				
CNTN6	27255	broad.mit.edu	37	3	1424634	1424636	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr3:1424634_1424636delAGA	ENST00000446702.2	+	18	2802_2804	c.2175_2177delAGA	c.(2173-2178)ccagaa>cca	p.E727del	CNTN6_ENST00000350110.2_In_Frame_Del_p.E727del|CNTN6_ENST00000539053.1_In_Frame_Del_p.E655del			Q9UQ52	CNTN6_HUMAN	contactin 6	727	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGTCAATTCCAGAAGAACTGCAG	0.384																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2173-2178)cca>cc		contactin 6																																				SO:0001651	inframe_deletion	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1424634_1424636delAGA	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2175_2177delAGA	3.37:g.1424637_1424639delAGA	ENSP00000407822:p.Glu727del					CNTN6_ENST00000350110.2_In_Frame_Del_p.PE725del|CNTN6_ENST00000539053.1_In_Frame_Del_p.PE653del	p.PE725del			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	18	2802_2804	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	725			Fibronectin type-III 2.		Q2KHM2	In_Frame_Del	DEL	ENST00000446702.2	37	c.2175_2177delAGA	CCDS2557.1																																																																																				0.384	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		12	29						12	29	---	---	---	---
ZMIZ2	83637	broad.mit.edu	37	7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)gccfs	p.A728fs	ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.A670fs|ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.A728fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.A702fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.A696fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCGGCGCTGCCCCCTTTGCC	0.698																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2182-2184)cccfs		zinc finger, MIZ-type containing 2			,	11,3615		0,11,1802					,	-2.1	0.1			11	52,7754		0,52,3851	no	frameshift,frameshift	ZMIZ2	NM_174929.2,NM_031449.3	,	0,63,5653	A1A1,A1R,RR		0.6662,0.3034,0.5511	,	,		63,11369				SO:0001589	frameshift_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44805118_44805119insC	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2187dupC	7.37:g.44805123_44805123dupC	ENSP00000311778:p.Ala728fs					ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs	p.P728fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			16	2305_2306	+			728			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Frame_Shift_Ins	INS	ENST00000309315.4	37	c.2182_2183insC	CCDS43576.1																																																																																				0.698	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		3	6						3	6	---	---	---	---
MROH5	389690	broad.mit.edu	37	8	142490160	142490161	+	RNA	INS	-	-	C	rs397958904|rs567698338|rs146578467|rs368937744	byFrequency	TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr8:142490160_142490161insC	ENST00000430863.1	-	0	939					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CCTGTGCTTGACCCCCCCCAAG	0.614													CCCCCCcC|CCCCCCCC|CCCCCCCCC|insertion	944	0.188498	0.1339	0.2363	5008	,	,		21061	0.2044		0.1332	False		,,,				2504	0.2689					ENST00000430863.1																			0													maestro heat-like repeat family member 5																																						389690							g.chr8:142490160_142490161insC			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142490168_142490168dupC								NM_207414.2	NP_997297.2					0	939	-									RNA	INS	ENST00000430863.1	37																																																																																						0.614	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		5	4						5	4	---	---	---	---
DOCK8	81704	broad.mit.edu	37	9	446516	446517	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:446516_446517insCA	ENST00000453981.1	+	44	5839_5840	c.5727_5728insCA	c.(5728-5730)catfs	p.H1910fs	DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.H1810fs|DOCK8_ENST00000432829.2_Frame_Shift_Ins_p.H1842fs|DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.H1377fs			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1910	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGGGAGAGCTGCATGAGCAGTA	0.545																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(5521-5526)ctatgafs		dedicator of cytokinesis 8																																				SO:0001589	frameshift_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:446516_446517insCA	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5728_5729dupCA	9.37:g.446517_446518dupCA	ENSP00000408464:p.His1910fs					DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.*1377fs|DOCK8_ENST00000453981.1_Frame_Shift_Ins_p.*1910fs|DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.*1810fs	p.*1842fs	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	44	5839_5840	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1910					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Frame_Shift_Ins	INS	ENST00000453981.1	37	c.5523_5524insCA	CCDS6440.2																																																																																				0.545	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		12	51						12	51	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84606915	84606923	+	In_Frame_Del	DEL	GCACAGCGA	GCACAGCGA	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr9:84606915_84606923delGCACAGCGA	ENST00000344803.2	+	4	1577_1585	c.1530_1538delGCACAGCGA	c.(1528-1539)ttgcacagcgag>ttg	p.HSE511del		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	511					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCCATCTTTGCACAGCGAGTCTCTGCAT	0.445																																						ENST00000344803.2																			0											c.(1528-1539)ttg>tt		SPATA31 subfamily D, member 1																																				SO:0001651	inframe_deletion	389763							g.chr9:84606915_84606923delGCACAGCGA		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1530_1538delGCACAGCGA	9.37:g.84606915_84606923delGCACAGCGA	ENSP00000341988:p.His511_Glu513del						p.LHSE510del	NM_001001670.2	NP_001001670.1					4	1577_1585	+									In_Frame_Del	DEL	ENST00000344803.2	37	c.1530_1538delGCACAGCGA	CCDS47986.1																																																																																				0.445	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		8	29						8	29	---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.G61fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000534803.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.52																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(301-303)gacfs		peptidase domain containing associated with muscle regeneration 1																																				SO:0001589	frameshift_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513669_35513670insC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.303dupG	11.37:g.35513676_35513676dupC	ENSP00000368158:p.Gly101fs					PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs	p.D101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			3	747_748	-			101					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Ins	INS	ENST00000378880.2	37	c.302_303insG	CCDS31460.1																																																																																				0.520	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		27	605						27	605	---	---	---	---
KRTAP4-9	100132386	broad.mit.edu	37	17	39261988	39261988	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr17:39261988delC	ENST00000391415.1	+	1	405	c.348delC	c.(346-348)cacfs	p.H116fs		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	116	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CCTGCTGCCACCCTAGGtgct	0.652																																						ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(346-348)cafs		keratin associated protein 4-9							25.0	30.0	29.0					17																	39261988		692	1591	2283	SO:0001589	frameshift_variant	100132386					keratin filament		g.chr17:39261988delC	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.348delC	17.37:g.39261988delC	ENSP00000375234:p.His116fs						p.H116fs	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	405	+			116			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Frame_Shift_Del	DEL	ENST00000391415.1	37	c.348delC	CCDS54124.1																																																																																				0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		8	12						8	12	---	---	---	---
LZTS3	9762	broad.mit.edu	37	20	3146179	3146179	+	Frame_Shift_Del	DEL	G	G	-	rs560824792		TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	4c6dc4b7-913a-4c75-9af4-c3fda9204cf1	g.chr20:3146179delG	ENST00000329152.3	-	2	2684	c.1287delC	c.(1285-1287)gccfs	p.A429fs	LZTS3_ENST00000360342.3_Frame_Shift_Del_p.A383fs|LZTS3_ENST00000337576.5_Frame_Shift_Del_p.A383fs			O60299	LZTS3_HUMAN		429						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)											GCAGGAAGTCGGCCTGCTCCT	0.662																																						ENST00000329152.3																			0											c.(1285-1287)gcfs									22.0	25.0	24.0					20																	3146179		2199	4297	6496	SO:0001589	frameshift_variant	9762							g.chr20:3146179delG																												ENST00000329152.3:c.1287delC	20.37:g.3146179delG	ENSP00000332123:p.Ala429fs					LZTS3_ENST00000337576.5_Frame_Shift_Del_p.A383fs|LZTS3_ENST00000360342.3_Frame_Shift_Del_p.A383fs	p.A429fs	NM_014731.2	NP_055546.1					2	2684	-								A2A2Q7|D3DVX6|Q8IXX8	Frame_Shift_Del	DEL	ENST00000329152.3	37	c.1287delC	CCDS13049.1																																																																																				0.662	LZTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077715.2			20	31						20	31	---	---	---	---
ZMIZ2	83637	broad.mit.edu	37	7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)gccfs	p.A728fs	ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.A670fs|ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.A728fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.A702fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.A696fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCGGCGCTGCCCCCTTTGCC	0.698																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2182-2184)cccfs		zinc finger, MIZ-type containing 2			,	11,3615		0,11,1802					,	-2.1	0.1			11	52,7754		0,52,3851	no	frameshift,frameshift	ZMIZ2	NM_174929.2,NM_031449.3	,	0,63,5653	A1A1,A1R,RR		0.6662,0.3034,0.5511	,	,		63,11369				SO:0001589	frameshift_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44805118_44805119insC	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2187dupC	7.37:g.44805123_44805123dupC	ENSP00000311778:p.Ala728fs					ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs	p.P728fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			16	2305_2306	+			728			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Frame_Shift_Ins	INS	ENST00000309315.4	37	c.2182_2183insC	CCDS43576.1																																																																																				0.698	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		3	6						3	6	---	---	---	---
DOCK8	81704	broad.mit.edu	37	9	446516	446517	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr9:446516_446517insCA	ENST00000453981.1	+	44	5839_5840	c.5727_5728insCA	c.(5728-5730)catfs	p.H1910fs	DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.H1810fs|DOCK8_ENST00000432829.2_Frame_Shift_Ins_p.H1842fs|DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.H1377fs			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1910	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGGGAGAGCTGCATGAGCAGTA	0.545																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(5521-5526)ctatgafs		dedicator of cytokinesis 8																																				SO:0001589	frameshift_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:446516_446517insCA	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5728_5729dupCA	9.37:g.446517_446518dupCA	ENSP00000408464:p.His1910fs					DOCK8_ENST00000453981.1_Frame_Shift_Ins_p.*1910fs|DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.*1810fs|DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.*1377fs	p.*1842fs	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	44	5839_5840	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1910					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Frame_Shift_Ins	INS	ENST00000453981.1	37	c.5523_5524insCA	CCDS6440.2																																																																																				0.545	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		12	51						12	51	---	---	---	---
SPATA31D1	389763	broad.mit.edu	37	9	84606915	84606923	+	In_Frame_Del	DEL	GCACAGCGA	GCACAGCGA	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr9:84606915_84606923delGCACAGCGA	ENST00000344803.2	+	4	1577_1585	c.1530_1538delGCACAGCGA	c.(1528-1539)ttgcacagcgag>ttg	p.HSE511del		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	511					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCCATCTTTGCACAGCGAGTCTCTGCAT	0.445																																						ENST00000344803.2																			0											c.(1528-1539)ttg>tt		SPATA31 subfamily D, member 1																																				SO:0001651	inframe_deletion	389763							g.chr9:84606915_84606923delGCACAGCGA		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1530_1538delGCACAGCGA	9.37:g.84606915_84606923delGCACAGCGA	ENSP00000341988:p.His511_Glu513del						p.LHSE510del	NM_001001670.2	NP_001001670.1					4	1577_1585	+									In_Frame_Del	DEL	ENST00000344803.2	37	c.1530_1538delGCACAGCGA	CCDS47986.1																																																																																				0.445	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		8	29						8	29	---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35513669	35513670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr11:35513669_35513670insC	ENST00000378880.2	-	3	747_748	c.302_303insG	c.(301-303)ggtfs	p.G101fs	PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.G61fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.G101fs|PAMR1_ENST00000534803.1_5'UTR	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	101						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CATCCAAGGTACCCCCCCATGA	0.52																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(301-303)gacfs		peptidase domain containing associated with muscle regeneration 1																																				SO:0001589	frameshift_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35513669_35513670insC		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.303dupG	11.37:g.35513676_35513676dupC	ENSP00000368158:p.Gly101fs					PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000534803.1_5'UTR	p.D101fs	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN			3	747_748	-			101					A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Frame_Shift_Ins	INS	ENST00000378880.2	37	c.302_303insG	CCDS31460.1																																																																																				0.520	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		27	605						27	605	---	---	---	---
KRTAP4-9	100132386	broad.mit.edu	37	17	39261988	39261988	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7423-01A-11D-2078-08	TCGA-CV-7423-11A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a99653e0-2751-4423-93f7-abcf258c9868	0d495571-2b44-458d-9c80-58a9e13d1ccc	g.chr17:39261988delC	ENST00000391415.1	+	1	405	c.348delC	c.(346-348)cacfs	p.H116fs		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	116	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CCTGCTGCCACCCTAGGtgct	0.652																																						ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(346-348)cafs		keratin associated protein 4-9							25.0	30.0	29.0					17																	39261988		692	1591	2283	SO:0001589	frameshift_variant	100132386					keratin filament		g.chr17:39261988delC	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.348delC	17.37:g.39261988delC	ENSP00000375234:p.His116fs						p.H116fs	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	405	+			116			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Frame_Shift_Del	DEL	ENST00000391415.1	37	c.348delC	CCDS54124.1																																																																																				0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		8	12						8	12	---	---	---	---
