#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
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	0							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	124	0	0	0	1	0	4	124				
TMEM132B	114795	broad.mit.edu	37	12	125834274	125834274	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:125834274A>G	ENST00000299308.3	+	2	337	c.329A>G	c.(328-330)aAc>aGc	p.N110S	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	110						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCCTTTGGAAACATGGACAAA	0.468																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(328-330)aAc>aGc		transmembrane protein 132B							115.0	112.0	113.0					12																	125834274		1901	4133	6034	SO:0001583	missense	114795					integral to membrane		g.chr12:125834274A>G	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.329A>G	12.37:g.125834274A>G	ENSP00000299308:p.Asn110Ser					TMEM132B_ENST00000418253.2_3'UTR	p.N110S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	2	337	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		110					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.329A>G	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	A	4.549	0.101952	0.08731	.	.	ENSG00000139364	ENST00000299308	T	0.10099	2.91	5.49	-4.74	0.03249	.	.	.	.	.	T	0.03095	0.0091	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43845	-0.9366	9	0.18276	T	0.48	.	2.9038	0.05714	0.1987:0.284:0.3849:0.1325	.	110	Q14DG7	T132B_HUMAN	S	110	ENSP00000299308:N110S	ENSP00000299308:N110S	N	+	2	0	TMEM132B	124400227	0.000000	0.05858	0.000000	0.03702	0.548000	0.35241	1.083000	0.30815	-0.788000	0.04504	0.482000	0.46254	AAC		0.468	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		4	114	0	0	0	1	0	4	114				
SLC44A3	126969	broad.mit.edu	37	1	95290099	95290099	+	Silent	SNP	C	C	T			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr1:95290099C>T	ENST00000271227.6	+	3	288	c.186C>T	c.(184-186)ctC>ctT	p.L62L	SLC44A3_ENST00000529450.1_Silent_p.L62L|SLC44A3_ENST00000527077.1_Silent_p.L26L|SLC44A3_ENST00000446120.2_Silent_p.L26L|SLC44A3_ENST00000532427.1_Silent_p.L14L|SLC44A3_ENST00000467909.1_Silent_p.L14L	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	62					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GAAGACTCCTCTTTGGCTATG	0.552																																						ENST00000271227.6																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(184-186)ctC>ctT		solute carrier family 44, member 3	Choline(DB00122)						85.0	90.0	88.0					1																	95290099		2203	4300	6503	SO:0001819	synonymous_variant	126969					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:95290099C>T	BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.186C>T	1.37:g.95290099C>T						SLC44A3_ENST00000446120.2_Silent_p.L26L|SLC44A3_ENST00000527077.1_Silent_p.L26L|SLC44A3_ENST00000467909.1_Silent_p.L14L|SLC44A3_ENST00000532427.1_Silent_p.L14L|SLC44A3_ENST00000529450.1_Silent_p.L62L	p.L62L	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN		all cancers(265;0.039)|Epithelial(280;0.124)	3	288	+		all_lung(203;0.000712)|Lung NSC(277;0.00316)	62					B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Silent	SNP	ENST00000271227.6	37	c.186C>T	CCDS44176.1																																																																																				0.552	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029544.3	NM_152369		6	120	0	0	0	1	0	6	120				
XPOT	11260	broad.mit.edu	37	12	64810532	64810532	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:64810532C>A	ENST00000332707.5	+	4	727	c.198C>A	c.(196-198)taC>taA	p.Y66*		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	66	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AAGTTAAATACAAGTAAGGCT	0.318																																						ENST00000332707.5																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(196-198)taC>taA		exportin, tRNA							133.0	143.0	139.0					12																	64810532		2202	4300	6502	SO:0001587	stop_gained	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64810532C>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.198C>A	12.37:g.64810532C>A	ENSP00000327821:p.Tyr66*						p.Y66*	NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	4	727	+			66			Necessary for interaction with Ran, nuclear localization and nuclear import.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Nonsense_Mutation	SNP	ENST00000332707.5	37	c.198C>A	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	38	7.185625	0.98121	.	.	ENSG00000184575	ENST00000332707;ENST00000400935	.	.	.	5.2	4.31	0.51392	.	0.101474	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8322	0.46667	0.0:0.8522:0.0:0.1478	.	.	.	.	X	66	.	.	Y	+	3	2	XPOT	63096799	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.075000	0.41538	1.516000	0.48900	0.655000	0.94253	TAC		0.318	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		3	77	1	0	1	1	1	3	77				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	47	0	0	0	1	0	4	47				
TULP2	7288	broad.mit.edu	37	19	49385438	49385438	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr19:49385438C>T	ENST00000221399.3	-	12	1442	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	433					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		ACGTTGGTAACGACTCAGTAG	0.502																																						ENST00000221399.3																			0				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22						c.(1297-1299)cGt>cAt		tubby like protein 2							87.0	74.0	78.0					19																	49385438		2203	4300	6503	SO:0001583	missense	7288				visual perception	cytoplasm|extracellular region		g.chr19:49385438C>T	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.1298G>A	19.37:g.49385438C>T	ENSP00000221399:p.Arg433His						p.R433H	NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	12	1442	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	433					Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	c.1298G>A	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912821	0.72983	.	.	ENSG00000104804	ENST00000221399	D	0.96554	-4.05	4.49	3.43	0.39272	Tubby, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94945	0.8365	L	0.56199	1.76	0.44214	D	0.997043	D	0.57571	0.98	P	0.47102	0.537	D	0.94363	0.7589	10	0.72032	D	0.01	-13.7637	11.8564	0.52439	0.1764:0.8236:0.0:0.0	.	433	O00295	TULP2_HUMAN	H	433	ENSP00000221399:R433H	ENSP00000221399:R433H	R	-	2	0	TULP2	54077250	0.762000	0.28451	0.469000	0.27204	0.035000	0.12851	2.176000	0.42500	1.216000	0.43427	0.555000	0.69702	CGT		0.502	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		8	24	0	0	0	1	0	8	24				
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	byFrequency	TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr21:11058340A>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363													a|||	41	0.0081869	0.0136	0.0014	5008	,	,		64928	0.002		0.005	False		,,,				2504	0.0153					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11058340A>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058340A>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.363	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	132	0	0	0	1	0	8	132				
SHROOM3	57619	broad.mit.edu	37	4	77476902	77476902	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr4:77476902G>T	ENST00000296043.6	+	2	1262	c.309G>T	c.(307-309)agG>agT	p.R103S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	103	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGACCCTCAGGCTGGTAGTGC	0.592																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(307-309)agG>agT		shroom family member 3							103.0	89.0	94.0					4																	77476902		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77476902G>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.309G>T	4.37:g.77476902G>T	ENSP00000296043:p.Arg103Ser						p.R103S	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		2	1262	+			103			PDZ.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.309G>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971965	0.34754	.	.	ENSG00000138771	ENST00000296043	T	0.26373	1.74	4.44	3.51	0.40186	PDZ/DHR/GLGF (4);	0.413927	0.19167	N	0.121056	T	0.16599	0.0399	N	0.20304	0.555	0.30045	N	0.812301	B	0.29909	0.261	B	0.33392	0.163	T	0.07252	-1.0782	10	0.62326	D	0.03	-16.4081	7.6555	0.28373	0.0918:0.1684:0.7398:0.0	.	103	Q8TF72	SHRM3_HUMAN	S	103	ENSP00000296043:R103S	ENSP00000296043:R103S	R	+	3	2	SHROOM3	77695926	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.208000	0.51114	2.398000	0.81561	0.467000	0.42956	AGG		0.592	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		3	52	1	0	1	1	1	3	52				
MKLN1	4289	broad.mit.edu	37	7	131012679	131012679	+	Silent	SNP	C	C	T	rs142689824		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr7:131012679C>T	ENST00000352689.6	+	1	61	c.21C>T	c.(19-21)gtC>gtT	p.V7V	MKLN1-AS2_ENST00000429067.1_RNA|MKLN1-AS2_ENST00000454515.1_RNA|MKLN1-AS2_ENST00000416220.1_RNA|MKLN1_ENST00000429546.1_Intron|MKLN1_ENST00000421797.2_Intron	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	7					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GCGGAGCTGTCGCTGCGGCGC	0.677																																						ENST00000352689.6																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(19-21)gtC>gtT		muskelin 1, intracellular mediator containing kelch motifs							25.0	28.0	27.0					7																	131012679		2175	4246	6421	SO:0001819	synonymous_variant	4289				signal transduction	cytoplasm	protein binding	g.chr7:131012679C>T	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.21C>T	7.37:g.131012679C>T						MKLN1_ENST00000421797.2_Intron|MKLN1_ENST00000429546.1_Intron	p.V7V	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN			1	61	+	Melanoma(18;0.162)		7					A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Silent	SNP	ENST00000352689.6	37	c.21C>T	CCDS34754.1																																																																																				0.677	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		7	64	0	0	0	1	0	7	64				
STX17	55014	broad.mit.edu	37	9	102713485	102713485	+	Silent	SNP	A	A	G			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr9:102713485A>G	ENST00000259400.6	+	4	469	c.333A>G	c.(331-333)gaA>gaG	p.E111E	STX17_ENST00000534052.1_Silent_p.E111E|STX17_ENST00000525640.1_Silent_p.E111E|STX17_ENST00000525847.1_3'UTR	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN	syntaxin 17	111					autophagic vacuole fusion (GO:0000046)|endoplasmic reticulum-Golgi intermediate compartment organization (GO:0097111)|ER to Golgi vesicle-mediated transport (GO:0006888)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|protein localization to pre-autophagosomal structure (GO:0034497)	autophagic vacuole membrane (GO:0000421)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle (GO:0030134)|ER-mitochondrion membrane contact site (GO:0044233)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|smooth endoplasmic reticulum membrane (GO:0030868)|SNARE complex (GO:0031201)	protein phosphatase binding (GO:0019903)|SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TCCATTTGGAATCTGTAGAAG	0.393																																						ENST00000259400.6																			0				endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(331-333)gaA>gaG		syntaxin 17							107.0	106.0	107.0					9																	102713485		2203	4299	6502	SO:0001819	synonymous_variant	55014				intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum|integral to membrane|nucleolus	SNAP receptor activity	g.chr9:102713485A>G	AL834371	CCDS6745.1	9q31.1	2008-02-05			ENSG00000136874	ENSG00000136874			11432	protein-coding gene	gene with protein product		604204				9852078	Standard	NM_017919		Approved	FLJ20651	uc004bal.4	P56962	OTTHUMG00000020359	ENST00000259400.6:c.333A>G	9.37:g.102713485A>G						STX17_ENST00000525847.1_3'UTR|STX17_ENST00000525640.1_Silent_p.E111E|STX17_ENST00000534052.1_Silent_p.E111E	p.E111E	NM_017919.2	NP_060389.2	P56962	STX17_HUMAN			4	469	+		Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)	111					Q4VXC2	Silent	SNP	ENST00000259400.6	37	c.333A>G	CCDS6745.1																																																																																				0.393	STX17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053398.3	NM_017919		11	40	0	0	0	1	0	11	40				
TROAP	10024	broad.mit.edu	37	12	49724313	49724313	+	Missense_Mutation	SNP	G	G	T	rs199744032		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:49724313G>T	ENST00000257909.3	+	13	1761	c.1685G>T	c.(1684-1686)aGt>aTt	p.S562I	TROAP_ENST00000547923.1_Missense_Mutation_p.S270I|TROAP_ENST00000551245.1_Missense_Mutation_p.S562I	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	562	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)		p.S562I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TGCTGTAGGAGTGAGCCTGAG	0.592																																						ENST00000551245.1																			1	Substitution - Missense(1)	p.S562I(1)	lung(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						c.(1684-1686)aGt>aTt		trophinin associated protein		G	ILE/SER	1,4405		0,1,2202	69.0	67.0	68.0		1685	-1.1	0.0	12		68	0,8600		0,0,4300	no	missense	TROAP	NM_005480.3	142	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	562/779	49724313	1,13005	2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49724313G>T	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1685G>T	12.37:g.49724313G>T	ENSP00000257909:p.Ser562Ile					TROAP_ENST00000547923.1_Missense_Mutation_p.S270I|TROAP_ENST00000257909.3_Missense_Mutation_p.S562I	p.S562I			Q12815	TROAP_HUMAN			13	1796	+			562			4 X 33 AA approximate tandem repeats.|Cys-rich.		F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.1685G>T	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.880628	0.33255	2.27E-4	0.0	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	3.47	-1.09	0.09904	.	.	.	.	.	T	0.15652	0.0377	N	0.22421	0.69	0.09310	N	1	B;B;P	0.35982	0.001;0.001;0.531	B;B;B	0.34779	0.002;0.002;0.189	T	0.14671	-1.0464	8	0.51188	T	0.08	.	1.3245	0.02123	0.2218:0.1838:0.4332:0.1612	.	562;270;562	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	I	562;562;270	.	ENSP00000257909:S562I	S	+	2	0	TROAP	48010580	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.031000	0.13710	-0.625000	0.05604	0.313000	0.20887	AGT		0.592	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		5	74	1	0	0.0215528	1	0.0231692	5	74				
LRP1	4035	broad.mit.edu	37	12	57605751	57605751	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:57605751C>G	ENST00000243077.3	+	87	13766	c.13300C>G	c.(13300-13302)Ctg>Gtg	p.L4434V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4434					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCTGCTGCTGCTGGTTCTGGT	0.547																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(13300-13302)Ctg>Gtg		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						167.0	144.0	152.0					12																	57605751		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57605751C>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.13300C>G	12.37:g.57605751C>G	ENSP00000243077:p.Leu4434Val						p.L4434V	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	87	13766	+			4434					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.13300C>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353405	0.24512	.	.	ENSG00000123384	ENST00000243077	T	0.49720	0.77	4.43	-1.01	0.10169	.	0.837651	0.09715	N	0.765158	T	0.30823	0.0777	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08432	-1.0722	10	0.24483	T	0.36	.	11.6529	0.51299	0.202:0.3947:0.4032:0.0	.	4434	Q07954	LRP1_HUMAN	V	4434	ENSP00000243077:L4434V	ENSP00000243077:L4434V	L	+	1	2	LRP1	55892018	0.770000	0.28543	0.949000	0.38748	0.629000	0.37895	-0.105000	0.10907	-0.792000	0.04480	-1.268000	0.01426	CTG		0.547	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		3	187	0	0	0	1	0	3	187				
LECT2	3950	broad.mit.edu	37	5	135288629	135288629	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr5:135288629C>T	ENST00000274507.1	-	2	274	c.74G>A	c.(73-75)tGt>tAt	p.C25Y	LECT2_ENST00000512872.1_De_novo_Start_OutOfFrame|LECT2_ENST00000514447.2_Missense_Mutation_p.C25Y|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000522943.1_Missense_Mutation_p.C25Y|FBXL21_ENST00000467490.1_RNA	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	25					chemotaxis (GO:0006935)|negative regulation of Wnt signaling pathway (GO:0030178)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	identical protein binding (GO:0042802)	p.C25Y(1)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTGCCAGCACATATATTAGC	0.517																																						ENST00000512872.1																			1	Substitution - Missense(1)	p.C25Y(1)	upper_aerodigestive_tract(1)	large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4								leukocyte cell-derived chemotaxin 2							151.0	142.0	145.0					5																	135288629		2203	4300	6503	SO:0001583	missense	3950				chemotaxis|skeletal system development	cytoplasm|extracellular space		g.chr5:135288629C>T	AB007546	CCDS4190.1	5q31.1	2008-05-15			ENSG00000145826	ENSG00000145826			6550	protein-coding gene	gene with protein product		602882				9545637	Standard	NM_002302		Approved	chm-II, chm2	uc003lbe.1	O14960	OTTHUMG00000129146	ENST00000274507.1:c.74G>A	5.37:g.135288629C>T	ENSP00000274507:p.Cys25Tyr					LECT2_ENST00000514447.2_Missense_Mutation_p.C25Y|LECT2_ENST00000522943.1_Missense_Mutation_p.C25Y|LECT2_ENST00000471827.1_5'UTR|LECT2_ENST00000274507.1_Missense_Mutation_p.C25Y				O14960	LECT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		0	198	-								B2RA90|O14565|Q52M49	Translation_Start_Site	SNP	ENST00000274507.1	37		CCDS4190.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469216	0.63625	.	.	ENSG00000145826	ENST00000522943;ENST00000274507;ENST00000514447	T;T;T	0.09255	3.0;3.0;3.0	5.96	5.1	0.69264	.	0.042993	0.85682	N	0.000000	T	0.31167	0.0788	M	0.74647	2.275	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.03695	-1.1012	10	0.87932	D	0	-8.5927	10.8827	0.46948	0.0:0.9144:0.0:0.0856	.	25	O14960	LECT2_HUMAN	Y	25	ENSP00000429618:C25Y;ENSP00000274507:C25Y;ENSP00000421123:C25Y	ENSP00000274507:C25Y	C	-	2	0	LECT2	135316528	1.000000	0.71417	0.994000	0.49952	0.714000	0.41099	2.712000	0.47186	1.525000	0.49052	0.650000	0.86243	TGT		0.517	LECT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251209.1	NM_002302		8	181	0	0	0	1	0	8	181				
SLC5A6	8884	broad.mit.edu	37	2	27426733	27426733	+	Silent	SNP	G	G	A	rs59827696		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr2:27426733G>A	ENST00000310574.3	-	10	1481	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	SLC5A6_ENST00000461319.1_5'Flank|SLC5A6_ENST00000408041.1_Silent_p.F336F	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	336					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	AGTACAGGACGAACTGCAAGC	0.592																																						ENST00000310574.3																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20						c.(1006-1008)ttC>ttT		solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	Biotin(DB00121)|Lipoic Acid(DB00166)						48.0	46.0	46.0					2																	27426733		2203	4300	6503	SO:0001819	synonymous_variant	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27426733G>A	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.1008C>T	2.37:g.27426733G>A						SLC5A6_ENST00000408041.1_Silent_p.F336F	p.F336F	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN			10	1481	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		336					B2RB85|D6W549|Q969Y5	Silent	SNP	ENST00000310574.3	37	c.1008C>T	CCDS1740.1																																																																																				0.592	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		3	27	0	0	0	1	0	3	27				
ICK	22858	broad.mit.edu	37	6	52869962	52869962	+	Silent	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr6:52869962G>A	ENST00000350082.5	-	14	2230	c.1884C>T	c.(1882-1884)taC>taT	p.Y628Y	ICK_ENST00000356971.3_Silent_p.Y628Y	NM_014920.3	NP_055735.1	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	628					intracellular signal transduction (GO:0035556)|multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GCCGAGATGCGTACTTGGAAG	0.567																																						ENST00000356971.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31						c.(1882-1884)taC>taT		intestinal cell (MAK-like) kinase							107.0	105.0	106.0					6																	52869962		2203	4300	6503	SO:0001819	synonymous_variant	22858				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	g.chr6:52869962G>A	AB023153	CCDS4949.1	6p12.3-p11.2	2008-02-05			ENSG00000112144	ENSG00000112144			21219	protein-coding gene	gene with protein product		612325				12103360	Standard	NM_014920		Approved	MRK, LCK2, KIAA0936, MGC46090	uc003pbi.2	Q9UPZ9	OTTHUMG00000014870	ENST00000350082.5:c.1884C>T	6.37:g.52869962G>A						ICK_ENST00000350082.5_Silent_p.Y628Y	p.Y628Y	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN			15	2373	-	Lung NSC(77;0.103)		628					A7MD41|O75985|Q5THL2|Q8IYH8|Q9BX17|Q9NYX3	Silent	SNP	ENST00000350082.5	37	c.1884C>T	CCDS4949.1																																																																																				0.567	ICK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040952.1	NM_016513		4	180	0	0	0	1	0	4	180				
MAB21L1	4081	broad.mit.edu	37	13	36050055	36050055	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr13:36050055A>T	ENST00000379919.4	-	1	777	c.221T>A	c.(220-222)tTt>tAt	p.F74Y	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	74					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CACCACTTCAAATTCGGTGGG	0.572																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(220-222)tTt>tAt		mab-21-like 1 (C. elegans)							94.0	94.0	94.0					13																	36050055		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36050055A>T	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.221T>A	13.37:g.36050055A>T	ENSP00000369251:p.Phe74Tyr					NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron	p.F74Y	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	777	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	74					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.221T>A	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	A	16.47	3.131597	0.56828	.	.	ENSG00000180660	ENST00000379919	T	0.10099	2.91	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.13713	0.0332	L	0.47016	1.485	0.80722	D	1	P	0.34997	0.479	B	0.36092	0.217	T	0.02075	-1.1218	10	0.48119	T	0.1	-2.8798	15.8843	0.79232	1.0:0.0:0.0:0.0	.	74	Q13394	MB211_HUMAN	Y	74	ENSP00000369251:F74Y	ENSP00000369251:F74Y	F	-	2	0	MAB21L1	34948055	1.000000	0.71417	0.643000	0.29450	0.982000	0.71751	9.339000	0.96797	2.164000	0.68074	0.533000	0.62120	TTT		0.572	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		4	132	0	0	0	1	0	4	132				
NEDD4	4734	broad.mit.edu	37	15	56207613	56207613	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr15:56207613T>C	ENST00000508342.1	-	1	1716	c.1417A>G	c.(1417-1419)Aag>Gag	p.K473E	NEDD4_ENST00000338963.2_Missense_Mutation_p.K473E|NEDD4_ENST00000506154.1_Missense_Mutation_p.K473E|NEDD4_ENST00000435532.3_Intron	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	473					adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CAATTGTGCTTAAGGCTGGAT	0.378																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1417-1419)Aag>Gag		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							138.0	141.0	140.0					15																	56207613		2193	4291	6484	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56207613T>C	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.1417A>G	15.37:g.56207613T>C	ENSP00000424827:p.Lys473Glu					NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Missense_Mutation_p.K473E|NEDD4_ENST00000506154.1_Missense_Mutation_p.K473E	p.K473E			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	1	1716	-			473					A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.1417A>G		.	.	.	.	.	.	.	.	.	.	T	15.79	2.936443	0.52972	.	.	ENSG00000069869	ENST00000508342;ENST00000338963;ENST00000506154	T;T;T	0.26957	1.7;1.73;1.72	5.46	4.31	0.51392	.	7.777730	0.00628	U	0.000475	T	0.36303	0.0962	M	0.61703	1.905	0.23784	N	0.996853	B;B;B	0.28291	0.206;0.131;0.206	B;B;B	0.31101	0.124;0.058;0.124	T	0.41592	-0.9500	10	0.59425	D	0.04	.	11.7943	0.52090	0.0:0.0:0.147:0.853	.	473;473;473	P46934-2;P46934;P46934-3	.;NEDD4_HUMAN;.	E	473	ENSP00000424827:K473E;ENSP00000345530:K473E;ENSP00000422705:K473E	ENSP00000345530:K473E	K	-	1	0	NEDD4	53994905	1.000000	0.71417	0.973000	0.42090	0.995000	0.86356	2.175000	0.42491	0.882000	0.36016	0.377000	0.23210	AAG		0.378	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		5	89	0	0	0	1	0	5	89				
LRP2BP	55805	broad.mit.edu	37	4	186291863	186291863	+	Silent	SNP	G	G	A	rs550395072		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr4:186291863G>A	ENST00000328559.7	-	7	1720	c.909C>T	c.(907-909)caC>caT	p.H303H	RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Silent_p.H303H|LRP2BP_ENST00000510776.1_Silent_p.H277H|LRP2BP_ENST00000362004.3_Silent_p.H305H	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	303						cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		GACACCTTGCGTGGTAGAAGG	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20717	0.0		0.0	False		,,,				2504	0.0					ENST00000362004.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15						c.(913-915)caC>caT		LRP2 binding protein							131.0	111.0	118.0					4																	186291863		2203	4300	6503	SO:0001819	synonymous_variant	55805					cytoplasm	protein binding	g.chr4:186291863G>A	AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.909C>T	4.37:g.186291863G>A						LRP2BP_ENST00000505916.1_Silent_p.H303H|LRP2BP_ENST00000328559.7_Silent_p.H303H|LRP2BP_ENST00000510776.1_Silent_p.H277H	p.H305H			Q9P2M1	LR2BP_HUMAN		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)	7	1726	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	303					A6NJR7|A7E219|B3KX83|Q9NSN6	Silent	SNP	ENST00000328559.7	37	c.915C>T	CCDS3840.1																																																																																				0.478	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2	NM_018409		5	98	0	0	0	1	0	5	98				
DHX38	9785	broad.mit.edu	37	16	72137670	72137670	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr16:72137670G>A	ENST00000268482.3	+	13	2316	c.1807G>A	c.(1807-1809)Gga>Aga	p.G603R	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	603	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				AGAGATGGGGGGAAACCTTGG	0.542																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(1807-1809)Gga>Aga		DEAH (Asp-Glu-Ala-His) box polypeptide 38							49.0	46.0	47.0					16																	72137670		2198	4300	6498	SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72137670G>A	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.1807G>A	16.37:g.72137670G>A	ENSP00000268482:p.Gly603Arg					DHX38_ENST00000536867.1_Intron	p.G603R	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			13	2316	+		Ovarian(137;0.125)	603			Helicase ATP-binding.		B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.1807G>A	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.886305	0.51908	.	.	ENSG00000140829	ENST00000268482	T	0.07688	3.17	5.22	5.22	0.72569	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.361804	0.28459	N	0.015264	T	0.13114	0.0318	L	0.41573	1.285	0.80722	D	1	B	0.28178	0.202	B	0.36335	0.222	T	0.07501	-1.0769	10	0.87932	D	0	.	19.1592	0.93524	0.0:0.0:1.0:0.0	.	603	Q92620	PRP16_HUMAN	R	603	ENSP00000268482:G603R	ENSP00000268482:G603R	G	+	1	0	DHX38	70695171	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	4.312000	0.59154	2.586000	0.87340	0.563000	0.77884	GGA		0.542	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		3	54	0	0	0	1	0	3	54				
WNT4	54361	broad.mit.edu	37	1	22447975	22447975	+	Silent	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr1:22447975G>A	ENST00000290167.6	-	3	451	c.408C>T	c.(406-408)tgC>tgT	p.C136C	WNT4_ENST00000542383.1_Silent_p.C81C	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	136					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|embryonic epithelial tube formation (GO:0001838)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization to plasma membrane (GO:0090002)|female gonad development (GO:0008585)|female sex determination (GO:0030237)|immature T cell proliferation in thymus (GO:0033080)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|mammary gland epithelium development (GO:0061180)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric nephron morphogenesis (GO:0072273)|metanephric tubule formation (GO:0072174)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of gene expression (GO:0010629)|negative regulation of male gonad development (GO:2000019)|negative regulation of steroid biosynthetic process (GO:0010894)|negative regulation of testicular blood vessel morphogenesis (GO:0061369)|negative regulation of testosterone biosynthetic process (GO:2000225)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of wound healing (GO:0061045)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via MAPK cascade (GO:0038030)|oocyte development (GO:0048599)|paramesonephric duct development (GO:0061205)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cortisol biosynthetic process (GO:2000066)|positive regulation of dermatome development (GO:0061184)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of meiosis (GO:0045836)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|protein palmitoylation (GO:0018345)|regulation of cell-cell adhesion (GO:0022407)|renal vesicle formation (GO:0072033)|renal vesicle induction (GO:0072034)|smooth muscle cell differentiation (GO:0051145)|somatotropin secreting cell differentiation (GO:0060126)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|thyroid-stimulating hormone-secreting cell differentiation (GO:0060129)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TGTCACAGCCGCACTTCTCCA	0.672																																						ENST00000290167.6																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8						c.(406-408)tgC>tgT		wingless-type MMTV integration site family, member 4							74.0	71.0	72.0					1																	22447975		2203	4300	6503	SO:0001819	synonymous_variant	54361				adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity	g.chr1:22447975G>A	AL031281	CCDS223.1	1p36.23-p35.1	2013-02-28			ENSG00000162552	ENSG00000162552		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12783	protein-coding gene	gene with protein product		603490				8168088	Standard	NM_030761		Approved	WNT-4	uc001bfs.4	P56705	OTTHUMG00000002894	ENST00000290167.6:c.408C>T	1.37:g.22447975G>A						WNT4_ENST00000542383.1_Silent_p.C81C	p.C136C	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	3	451	-		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	136					B4DJF9|Q5TZQ0|Q96T81|Q9BXF5|Q9H1J8|Q9UJM2	Silent	SNP	ENST00000290167.6	37	c.408C>T	CCDS223.1																																																																																				0.672	WNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008088.2			4	121	0	0	0	1	0	4	121				
TCP1	6950	broad.mit.edu	37	6	160205735	160205735	+	Silent	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr6:160205735G>A	ENST00000321394.7	-	6	913	c.633C>T	c.(631-633)atC>atT	p.I211I	SNORA29_ENST00000384183.1_RNA|TCP1_ENST00000420894.2_Silent_p.I211I|TCP1_ENST00000544255.1_Intron|TCP1_ENST00000392168.2_Silent_p.I56I	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	211					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CATAGCCACTGATGAGCATAC	0.413																																						ENST00000321394.7																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10						c.(631-633)atC>atT		t-complex 1							106.0	103.0	104.0					6																	160205735		2203	4300	6503	SO:0001819	synonymous_variant	6950				'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding	g.chr6:160205735G>A	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.633C>T	6.37:g.160205735G>A						TCP1_ENST00000392168.2_Silent_p.I56I|TCP1_ENST00000544255.1_Intron|TCP1_ENST00000420894.2_Silent_p.I211I	p.I211I	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	6	913	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	211					E1P5B2|Q15556|Q5TCM3	Silent	SNP	ENST00000321394.7	37	c.633C>T	CCDS5269.1																																																																																				0.413	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752		36	86	0	0	0	1	0	36	86				
SLFN5	162394	broad.mit.edu	37	17	33586571	33586571	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr17:33586571G>A	ENST00000299977.4	+	2	1010	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	SLFN5_ENST00000592325.1_Missense_Mutation_p.A288T|SLFN5_ENST00000542451.1_Missense_Mutation_p.A288T	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	288					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		TGATAAGGGGGCCCTCCGTGG	0.473																																						ENST00000299977.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34						c.(862-864)Gcc>Acc		schlafen family member 5							137.0	140.0	139.0					17																	33586571		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33586571G>A	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.862G>A	17.37:g.33586571G>A	ENSP00000299977:p.Ala288Thr					SLFN5_ENST00000592325.1_Missense_Mutation_p.A288T|SLFN5_ENST00000542451.1_Missense_Mutation_p.A288T	p.A288T	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	2	1010	+		Ovarian(249;0.17)	288					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.862G>A	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	G	7.950	0.744731	0.15710	.	.	ENSG00000166750	ENST00000299977;ENST00000542451	T;T	0.61040	0.14;0.14	3.68	-2.6	0.06190	.	1.382570	0.05238	N	0.511720	T	0.47395	0.1443	M	0.62723	1.935	0.09310	N	1	B;B;B	0.23058	0.021;0.005;0.079	B;B;B	0.23852	0.008;0.008;0.049	T	0.20140	-1.0284	10	0.14252	T	0.57	.	3.5288	0.07769	0.5031:0.0:0.308:0.189	.	288;288;288	B4E128;Q08AF3;Q08AF3-2	.;SLFN5_HUMAN;.	T	288	ENSP00000299977:A288T;ENSP00000440537:A288T	ENSP00000299977:A288T	A	+	1	0	SLFN5	30610684	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.908000	0.04063	-0.243000	0.09653	-0.136000	0.14681	GCC		0.473	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		4	167	0	0	0	1	0	4	167				
CSMD1	64478	broad.mit.edu	37	8	2832078	2832078	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr8:2832078C>T	ENST00000520002.1	-	57	9193	c.8638G>A	c.(8638-8640)Gcc>Acc	p.A2880T	CSMD1_ENST00000602723.1_Missense_Mutation_p.A2822T|CSMD1_ENST00000400186.3_Missense_Mutation_p.A2822T|CSMD1_ENST00000542608.1_Missense_Mutation_p.A2821T|CSMD1_ENST00000602557.1_Missense_Mutation_p.A2880T|CSMD1_ENST00000537824.1_Missense_Mutation_p.A2879T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2880	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCACGACGGCGCCATAGGTA	0.557																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(8638-8640)Gcc>Acc		CUB and Sushi multiple domains 1							46.0	49.0	48.0					8																	2832078		2010	4169	6179	SO:0001583	missense	64478					integral to membrane		g.chr8:2832078C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8638G>A	8.37:g.2832078C>T	ENSP00000430733:p.Ala2880Thr					CSMD1_ENST00000602723.1_Missense_Mutation_p.A2822T|CSMD1_ENST00000400186.3_Missense_Mutation_p.A2822T|CSMD1_ENST00000602557.1_Missense_Mutation_p.A2880T|CSMD1_ENST00000542608.1_Missense_Mutation_p.A2821T|CSMD1_ENST00000537824.1_Missense_Mutation_p.A2879T	p.A2880T			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	57	9193	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2880			Sushi 21.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8638G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.778|6.778	0.512416|0.512416	0.12944|0.12944	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.65364|.	-0.15;-0.15;-0.15;-0.15|.	5.66|5.66	2.43|2.43	0.29744|0.29744	Complement control module (2);Sushi/SCR/CCP (3);|.	0.231592|.	0.37136|.	N|.	0.002235|.	T|T	0.45196|0.45196	0.1330|0.1330	L|L	0.38733|0.38733	1.17|1.17	0.80722|0.80722	D|D	1|1	P;B;B|.	0.48834|.	0.916;0.299;0.254|.	B;B;B|.	0.42422|.	0.387;0.384;0.095|.	T|T	0.19549|0.19549	-1.0302|-1.0302	10|5	0.59425|.	D|.	0.04|.	.|.	6.9946|6.9946	0.24774|0.24774	0.5713:0.3333:0.0:0.0953|0.5713:0.3333:0.0:0.0953	.|.	2880;2880;2821|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	T|H	2822;2880;2741;2879;2821|2296	ENSP00000383047:A2822T;ENSP00000430733:A2880T;ENSP00000441462:A2879T;ENSP00000446243:A2821T|.	ENSP00000320445:A2741T|.	A|R	-|-	1|2	0|0	CSMD1|CSMD1	2819485|2819485	0.115000|0.115000	0.22152|0.22152	0.036000|0.036000	0.18154|0.18154	0.004000|0.004000	0.04260|0.04260	0.652000|0.652000	0.24888|0.24888	0.660000|0.660000	0.30964|0.30964	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.557	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		6	22	0	0	0	1	0	6	22				
KDM5A	5927	broad.mit.edu	37	12	417066	417066	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:417066T>G	ENST00000399788.2	-	23	3846	c.3484A>C	c.(3484-3486)Aaa>Caa	p.K1162Q	KDM5A_ENST00000382815.4_Missense_Mutation_p.K1162Q	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1162					chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATGCAAAATTTTACTTCTTCT	0.448			T	NUP98	AML																																	ENST00000399788.2				Dom	yes		12	12p11	5927	T	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		0				NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						c.(3484-3486)Aaa>Caa		lysine (K)-specific demethylase 5A							117.0	119.0	118.0					12																	417066		1994	4157	6151	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:417066T>G		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.3484A>C	12.37:g.417066T>G	ENSP00000382688:p.Lys1162Gln					KDM5A_ENST00000382815.4_Missense_Mutation_p.K1162Q	p.K1162Q	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN			23	3846	-			1162					A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.3484A>C	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	T	15.23	2.772024	0.49680	.	.	ENSG00000073614	ENST00000399788;ENST00000382815	D;D	0.85013	-1.93;-1.93	5.52	5.52	0.82312	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.048451	0.85682	D	0.000000	T	0.80994	0.4731	L	0.46157	1.445	0.41655	D	0.98915	B;B	0.23249	0.029;0.082	B;B	0.25291	0.028;0.059	T	0.77998	-0.2376	10	0.46703	T	0.11	-17.2066	11.8592	0.52457	0.0:0.0:0.1459:0.8541	.	1162;1162	P29375;P29375-2	KDM5A_HUMAN;.	Q	1162	ENSP00000382688:K1162Q;ENSP00000372265:K1162Q	ENSP00000372265:K1162Q	K	-	1	0	KDM5A	287327	1.000000	0.71417	0.979000	0.43373	0.997000	0.91878	5.832000	0.69337	2.214000	0.71695	0.477000	0.44152	AAA		0.448	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		28	95	0	0	0	1	0	28	95				
SERPINA1	5265	broad.mit.edu	37	14	94849389	94849389	+	Silent	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr14:94849389G>A	ENST00000448921.1	-	4	758	c.186C>T	c.(184-186)taC>taT	p.Y62Y	SERPINA1_ENST00000437397.1_Silent_p.Y62Y|SERPINA1_ENST00000402629.1_Silent_p.Y62Y|SERPINA1_ENST00000355814.4_Silent_p.Y62Y|SERPINA1_ENST00000404814.4_Silent_p.Y62Y|SERPINA1_ENST00000449399.3_Silent_p.Y62Y|SERPINA1_ENST00000393087.4_Silent_p.Y62Y|SERPINA1_ENST00000440909.1_Silent_p.Y62Y|SERPINA1_ENST00000393088.4_Silent_p.Y62Y|SERPINA1_ENST00000555289.1_5'Flank	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	62					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CCAGCTGGCGGTATAGGCTGA	0.547																																						ENST00000448921.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24						c.(184-186)taC>taT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	Alpha-1-proteinase inhibitor(DB00058)						157.0	131.0	140.0					14																	94849389		2203	4300	6503	SO:0001819	synonymous_variant	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94849389G>A	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.186C>T	14.37:g.94849389G>A						SERPINA1_ENST00000402629.1_Silent_p.Y62Y|SERPINA1_ENST00000449399.3_Silent_p.Y62Y|SERPINA1_ENST00000404814.4_Silent_p.Y62Y|SERPINA1_ENST00000437397.1_Silent_p.Y62Y|SERPINA1_ENST00000393087.4_Silent_p.Y62Y|SERPINA1_ENST00000393088.4_Silent_p.Y62Y|SERPINA1_ENST00000355814.4_Silent_p.Y62Y|SERPINA1_ENST00000440909.1_Silent_p.Y62Y	p.Y62Y	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	4	758	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	62					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Silent	SNP	ENST00000448921.1	37	c.186C>T	CCDS9925.1																																																																																				0.547	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		4	157	0	0	0	1	0	4	157				
KIAA1211	57482	broad.mit.edu	37	4	57189657	57189657	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr4:57189657G>A	ENST00000504228.1	+	7	3407	c.3302G>A	c.(3301-3303)cGg>cAg	p.R1101Q	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R1101Q|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R1094Q			Q6ZU35	K1211_HUMAN	KIAA1211	1101										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGGGGTTTCGGGAGCAGCAG	0.522																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(3301-3303)cGg>cAg		KIAA1211							72.0	82.0	79.0					4																	57189657		1956	4138	6094	SO:0001583	missense	57482							g.chr4:57189657G>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3302G>A	4.37:g.57189657G>A	ENSP00000423366:p.Arg1101Gln					KIAA1211_ENST00000264229.6_Missense_Mutation_p.R1101Q|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R1094Q	p.R1101Q			Q6ZU35	K1211_HUMAN			7	3407	+	Glioma(25;0.08)|all_neural(26;0.101)		1101					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.3302G>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	35	5.561671	0.96527	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.18338	2.44;2.44;2.22	5.5	5.5	0.81552	.	.	.	.	.	T	0.43787	0.1263	M	0.66939	2.045	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.31833	-0.9929	9	0.87932	D	0	-22.2918	19.4113	0.94673	0.0:0.0:1.0:0.0	.	1094;1101	F5H1N7;Q6ZU35	.;K1211_HUMAN	Q	1101;1101;1094	ENSP00000264229:R1101Q;ENSP00000423366:R1101Q;ENSP00000444006:R1094Q	ENSP00000264229:R1101Q	R	+	2	0	KIAA1211	56884414	1.000000	0.71417	0.970000	0.41538	0.912000	0.54170	9.188000	0.94921	2.579000	0.87056	0.563000	0.77884	CGG		0.522	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		3	27	0	0	0	1	0	3	27				
TPTE2	93492	broad.mit.edu	37	13	20004644	20004644	+	Missense_Mutation	SNP	C	C	A	rs372777846		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr13:20004644C>A	ENST00000400230.2	-	17	1310	c.1266G>T	c.(1264-1266)aaG>aaT	p.K422N	TPTE2_ENST00000382975.4_Missense_Mutation_p.K382N|TPTE2_ENST00000255310.6_Missense_Mutation_p.K345N|TPTE2_ENST00000382977.4_Missense_Mutation_p.K422N|TPTE2_ENST00000382978.1_Missense_Mutation_p.K382N|TPTE2_ENST00000390680.2_Missense_Mutation_p.K345N|TPTE2_ENST00000457266.2_Missense_Mutation_p.K311N|TPTE2_ENST00000400103.2_Missense_Mutation_p.K311N			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	422	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAGACAACCTTTTTCTCCA	0.328																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1264-1266)aaG>aaT		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2		C	ASN/LYS,ASN/LYS,ASN/LYS	0,4404		0,0,2202	65.0	58.0	61.0		1266,1035,933	0.4	0.0	13		61	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	TPTE2	NM_199254.2,NM_130785.3,NM_001141968.1	94,94,94	0,1,6500	AA,AC,CC		0.0116,0.0,0.0077	benign,benign,benign	422/523,345/446,311/412	20004644	1,13001	2202	4299	6501	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20004644C>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1266G>T	13.37:g.20004644C>A	ENSP00000383089:p.Lys422Asn					TPTE2_ENST00000390680.2_Missense_Mutation_p.K345N|TPTE2_ENST00000255310.6_Missense_Mutation_p.K345N|TPTE2_ENST00000382978.1_Missense_Mutation_p.K382N|TPTE2_ENST00000400103.2_Missense_Mutation_p.K311N|TPTE2_ENST00000382975.4_Missense_Mutation_p.K382N|TPTE2_ENST00000382977.4_Missense_Mutation_p.K422N|TPTE2_ENST00000457266.2_Missense_Mutation_p.K311N	p.K422N			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	17	1310	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	422			C2 tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.1266G>T	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	c	5.433	0.265052	0.10294	0.0	1.16E-4	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	2.24	0.454	0.16644	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.531595	0.20024	N	0.100848	T	0.79009	0.4374	L	0.60455	1.87	0.09310	N	1	B;B;B	0.27594	0.107;0.151;0.182	B;B;B	0.31946	0.138;0.061;0.102	T	0.65191	-0.6228	9	.	.	.	-0.0344	5.3276	0.15915	0.0:0.6893:0.0:0.3107	.	311;345;422	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	N	382;311;422;345;345;422;382;311;422;291	ENSP00000372438:K382N;ENSP00000382974:K311N;ENSP00000383089:K422N;ENSP00000255310:K345N;ENSP00000375098:K345N;ENSP00000372437:K422N;ENSP00000372435:K382N;ENSP00000442218:K311N	.	K	-	3	2	TPTE2	18902644	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	-0.414000	0.07114	0.027000	0.15297	-1.050000	0.02344	AAG		0.328	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		4	21	1	0	0.150653	1	0.158002	4	21				
AMOT	154796	broad.mit.edu	37	X	112054552	112054552	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chrX:112054552C>A	ENST00000524145.1	-	4	1536	c.1462G>T	c.(1462-1464)Gcc>Tcc	p.A488S	AMOT_ENST00000371958.1_Missense_Mutation_p.A256S|AMOT_ENST00000371962.1_Missense_Mutation_p.A256S|AMOT_ENST00000371959.3_Missense_Mutation_p.A488S|AMOT_ENST00000304758.1_Missense_Mutation_p.A79S			Q4VCS5	AMOT_HUMAN	angiomotin	488					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TTCTCTAGGGCCTCTCTTTTG	0.478																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1462-1464)Gcc>Tcc		angiomotin							205.0	172.0	183.0					X																	112054552		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112054552C>A	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1462G>T	X.37:g.112054552C>A	ENSP00000429013:p.Ala488Ser					AMOT_ENST00000371958.1_Missense_Mutation_p.A256S|AMOT_ENST00000371962.1_Missense_Mutation_p.A256S|AMOT_ENST00000524145.1_Missense_Mutation_p.A488S|AMOT_ENST00000304758.1_Missense_Mutation_p.A79S	p.A488S	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			3	1461	-			488					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.1462G>T	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069089	0.55539	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.89	3.59	0.41128	.	0.153463	0.64402	D	0.000017	T	0.17280	0.0415	L	0.33137	0.985	0.37474	D	0.915736	B	0.21821	0.061	B	0.21917	0.037	T	0.10019	-1.0648	10	0.15066	T	0.55	-3.9541	9.7255	0.40328	0.0:0.7335:0.0:0.2665	.	488	Q4VCS5	AMOT_HUMAN	S	79;488;256;488;256	ENSP00000305557:A79S;ENSP00000361027:A488S;ENSP00000361030:A256S;ENSP00000429013:A488S;ENSP00000361026:A256S	ENSP00000305557:A79S	A	-	1	0	AMOT	111941208	0.777000	0.28628	0.986000	0.45419	0.992000	0.81027	0.521000	0.22893	1.077000	0.40990	0.600000	0.82982	GCC		0.478	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		6	150	1	0	2.74318e-10	1	3.27658e-10	6	150				
NDUFV3	4731	broad.mit.edu	37	21	44329112	44329112	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr21:44329112G>A	ENST00000340344.4	+	3	374	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000354250.2_Missense_Mutation_p.R468Q	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	103					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		TCCTCAGGCCGGGAGTCACCT	0.512																																						ENST00000354250.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10						c.(1402-1404)cGg>cAg		NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	NADH(DB00157)						184.0	169.0	174.0					21																	44329112		2203	4300	6503	SO:0001583	missense	4731				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity	g.chr21:44329112G>A		CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.308G>A	21.37:g.44329112G>A	ENSP00000342895:p.Arg103Gln					NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.3_Missense_Mutation_p.R103Q	p.R468Q	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN		STAD - Stomach adenocarcinoma(101;0.0606)	4	1472	+			103					A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	ENST00000340344.4	37	c.1403G>A	CCDS33573.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.880472	0.51801	.	.	ENSG00000160194	ENST00000354250;ENST00000340344;ENST00000398198	.	.	.	6.01	4.21	0.49690	.	0.457209	0.20517	N	0.090762	T	0.68860	0.3047	M	0.72894	2.215	0.44966	D	0.997987	P;D	0.71674	0.931;0.998	B;P	0.56865	0.356;0.808	T	0.72953	-0.4135	9	0.72032	D	0.01	-8.3842	12.3989	0.55402	0.1349:0.0:0.8651:0.0	.	103;468	P56181;P56181-2	NDUV3_HUMAN;.	Q	468;103;107	.	ENSP00000342895:R103Q	R	+	2	0	NDUFV3	43202181	1.000000	0.71417	0.122000	0.21767	0.169000	0.22640	4.510000	0.60455	1.572000	0.49736	0.644000	0.83932	CGG		0.512	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195448.2			8	173	0	0	0	1	0	8	173				
RMDN3	55177	broad.mit.edu	37	15	41046872	41046872	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr15:41046872C>A	ENST00000260385.6	-	1	1177	c.110G>T	c.(109-111)cGg>cTg	p.R37L	RMDN3_ENST00000558560.1_5'Flank|RMDN3_ENST00000338376.3_Missense_Mutation_p.R37L			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	37					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											ACGCTGGGTCCGTTTCCATCG	0.662																																						ENST00000260385.6																			0											c.(109-111)cGg>cTg		regulator of microtubule dynamics 3							65.0	64.0	64.0					15																	41046872		2203	4300	6503	SO:0001583	missense	55177							g.chr15:41046872C>A	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.110G>T	15.37:g.41046872C>A	ENSP00000260385:p.Arg37Leu					RMDN3_ENST00000338376.3_Missense_Mutation_p.R37L	p.R37L							1	1177	-								A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	c.110G>T	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171956	0.78452	.	.	ENSG00000137824	ENST00000260385;ENST00000338376	T;T	0.42513	0.97;0.97	5.59	4.65	0.58169	.	0.124363	0.49916	D	0.000136	T	0.30696	0.0773	L	0.32530	0.975	0.43168	D	0.994967	B	0.10296	0.003	B	0.10450	0.005	T	0.15665	-1.0429	10	0.72032	D	0.01	-9.254	7.4109	0.27017	0.1684:0.7475:0.0:0.084	.	37	Q96TC7	RMD3_HUMAN	L	37	ENSP00000260385:R37L;ENSP00000342493:R37L	ENSP00000260385:R37L	R	-	2	0	FAM82A2	38834164	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.390000	0.44416	1.447000	0.47661	0.655000	0.94253	CGG		0.662	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		3	64	1	0	0.00909568	1	0.0100286	3	64				
EML2	24139	broad.mit.edu	37	19	46124495	46124495	+	Silent	SNP	G	G	T			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr19:46124495G>T	ENST00000245925.3	-	11	1142	c.1092C>A	c.(1090-1092)tcC>tcA	p.S364S	EML2_ENST00000589876.1_Silent_p.S364S|EML2_ENST00000536630.1_Silent_p.S511S|EML2_ENST00000586902.1_5'Flank|EML2_ENST00000587152.1_Silent_p.S565S	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	364	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CTGTGTGCACGGAGCCCTGCA	0.642																																						ENST00000536630.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(1531-1533)tcC>tcA		echinoderm microtubule associated protein like 2							123.0	101.0	108.0					19																	46124495		2203	4300	6503	SO:0001819	synonymous_variant	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46124495G>T	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1092C>A	19.37:g.46124495G>T						EML2_ENST00000245925.3_Silent_p.S364S|EML2_ENST00000589876.1_Silent_p.S364S|EML2_ENST00000587152.1_Silent_p.S565S	p.S511S	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	14	1671	-		Ovarian(192;0.179)|all_neural(266;0.224)	364					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Silent	SNP	ENST00000245925.3	37	c.1533C>A	CCDS12670.1																																																																																				0.642	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155		3	59	1	0	6.4e-05	1	7.24211e-05	3	59				
ZFYVE26	23503	broad.mit.edu	37	14	68274320	68274320	+	Silent	SNP	G	G	A	rs372110379		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr14:68274320G>A	ENST00000347230.4	-	5	819	c.681C>T	c.(679-681)tgC>tgT	p.C227C	ZFYVE26_ENST00000555452.1_Silent_p.C227C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	227					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTTCTGCGGGGCAACGCAGAG	0.622																																						ENST00000347230.4																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(679-681)tgC>tgT		zinc finger, FYVE domain containing 26							48.0	47.0	48.0					14																	68274320		2203	4300	6503	SO:0001819	synonymous_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68274320G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.681C>T	14.37:g.68274320G>A						ZFYVE26_ENST00000555452.1_Silent_p.C227C	p.C227C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	5	819	-			227					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.681C>T	CCDS9788.1																																																																																				0.622	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		3	53	0	0	0	1	0	3	53				
PCSK9	255738	broad.mit.edu	37	1	55505553	55505555	+	In_Frame_Del	DEL	CTG	CTG	-	rs67610340		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr1:55505553_55505555delCTG	ENST00000302118.5	+	1	333_335	c.43_45delCTG	c.(43-45)ctgdel	p.L23del	PCSK9_ENST00000452118.2_In_Frame_Del_p.L23del|PCSK9_ENST00000543384.1_5'Flank	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	23			L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia). {ECO:0000269|PubMed:19319977, ECO:0000269|PubMed:22095935, ECO:0000269|Ref.4, ECO:0000269|Ref.5}.		apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						gccgctgccactgctgctgctgc	0.709																																					Pancreas(137;1454 1827 5886 22361 42375)	ENST00000302118.5																			2	Insertion - In frame(2)	p.P14_L15insL(2)	breast(1)|central_nervous_system(1)	NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						c.(43-45)del		proprotein convertase subtilisin/kexin type 9				61,2,537,84,3012		19,0,2,0,21,1,0,0,0,105,6,319,10,58,1307						0.2	0.0		dbSNP_130	10	61,21,797,190,6069		12,0,0,1,36,3,4,0,11,129,6,529,19,145,2674	no	codingComplex	PCSK9	NM_174936.3		31,0,2,1,57,4,4,0,11,234,12,848,29,203,3981	A1A1,A1A2,A1A3,A1A4,A1R,A2A2,A2A3,A2A4,A2R,A3A3,A3A4,A3R,A4A4,A4R,RR		14.9762,18.5065,16.1805				122,23,1334,274,9081				SO:0001651	inframe_deletion	255738				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	g.chr1:55505553_55505555delCTG	AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.43_45delCTG	1.37:g.55505562_55505564delCTG	ENSP00000303208:p.Leu23del					PCSK9_ENST00000452118.2_In_Frame_Del_p.L23del	p.L23del	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN			1	333_335	+			23		L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia).			A8T640|C0JYY9|Q5PSM5|Q5SZQ2	In_Frame_Del	DEL	ENST00000302118.5	37	c.43_45delCTG	CCDS603.1																																																																																				0.709	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936		2	4						2	4	---	---	---	---
N4BP2	55728	broad.mit.edu	37	4	40057344	40057345	+	5'Flank	INS	-	-	CAC			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr4:40057344_40057345insCAC	ENST00000261435.6	+	0	0				RP11-333E13.4_ENST00000381811.2_RNA	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2						nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						accactaccatcaccaccacca	0.441																																						ENST00000381811.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr4:40057344_40057345insCAC	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599		4.37:g.40057351_40057353dupCAC	Exception_encountered							NR_027277.1						0	239	-								A0AVR3|Q9NVK2|Q9P2D4	RNA	INS	ENST00000261435.6	37		CCDS3457.1																																																																																				0.441	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		4	5						4	5	---	---	---	---
NHLRC2	374354	broad.mit.edu	37	10	115614727	115614727	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr10:115614727delG	ENST00000369301.3	+	1	308	c.96delG	c.(94-96)cagfs	p.Q32fs	DCLRE1A_ENST00000476112.1_5'Flank|DCLRE1A_ENST00000361384.2_5'Flank|DCLRE1A_ENST00000369305.1_5'Flank	NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	32										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TTACCCAGCAGGAGAAGGACA	0.672																																						ENST00000369301.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(94-96)cafs		NHL repeat containing 2							45.0	38.0	40.0					10																	115614727		2162	4204	6366	SO:0001589	frameshift_variant	374354				cell redox homeostasis			g.chr10:115614727delG	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.96delG	10.37:g.115614727delG	ENSP00000358307:p.Gln32fs						p.Q32fs	NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	1	308	+			32					Q8N1H1|Q8N5A6	Frame_Shift_Del	DEL	ENST00000369301.3	37	c.96delG	CCDS7585.1																																																																																				0.672	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		2	4						2	4	---	---	---	---
C11orf95	65998	broad.mit.edu	37	11	63531514	63531516	+	lincRNA	DEL	CTC	CTC	-			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr11:63531514_63531516delCTC	ENST00000433688.1	-	0	1597_1599							C9JLR9	CK095_HUMAN	chromosome 11 open reading frame 95																		GCTCACCCCActcctcctcctcc	0.714																																						ENST00000433688.1																			0													chromosome 11 open reading frame 95																																						65998					intracellular	zinc ion binding	g.chr11:63531514_63531516delCTC	BC000572, AK096306		11q13	2011-11-24			ENSG00000188070	ENSG00000188070			28449	protein-coding gene	gene with protein product		615699				20607705	Standard	NM_001144936		Approved	MGC3032	uc010rmv.2	C9JLR9			11.37:g.63531523_63531525delCTC										C9JLR9	CK095_HUMAN			0	1597_1599	-								A6NLS7|Q3C1V4	RNA	DEL	ENST00000433688.1	37																																																																																						0.714	C11orf95-201	KNOWN	basic	lincRNA	lincRNA		NM_001144936		3	5						3	5	---	---	---	---
DNAH10	196385	broad.mit.edu	37	12	124356031	124356031	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr12:124356031delC	ENST00000409039.3	+	44	7338	c.7313delC	c.(7312-7314)accfs	p.T2438fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2438	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACTCGGACTACCTGGATATTG	0.433																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(7312-7314)acfs		dynein, axonemal, heavy chain 10							52.0	51.0	51.0					12																	124356031		1869	4102	5971	SO:0001589	frameshift_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124356031delC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.7313delC	12.37:g.124356031delC	ENSP00000386770:p.Thr2438fs						p.T2438fs	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	44	7338	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		2438			AAA 3 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Frame_Shift_Del	DEL	ENST00000409039.3	37	c.7313delC	CCDS9255.2																																																																																				0.433	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			2	4						2	4	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086382	20086383	+	RNA	INS	-	-	AAAA	rs202177940		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr14:20086382_20086383insAAAA	ENST00000548261.1	+	0	135																											TCTTACAAGGTAAAAAAAATGA	0.312																																						ENST00000548261.1																			0																																																			0							g.chr14:20086382_20086383insAAAA																													14.37:g.20086387_20086390dupAAAA														0	135	+									RNA	INS	ENST00000548261.1	37																																																																																						0.312	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			3	5						3	5	---	---	---	---
MEG3	55384	broad.mit.edu	37	14	101311732	101311734	+	RNA	DEL	CCT	CCT	-	rs398057451|rs139003317|rs61149909	byFrequency	TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr14:101311732_101311734delCCT	ENST00000554041.1	-	0	143																											CCTCATCCGCCCTCCTCCTCCTC	0.606														1311	0.261781	0.6059	0.1729	5008	,	,		14712	0.001		0.2097	False		,,,				2504	0.182					ENST00000554041.1																			0																																																			0							g.chr14:101311732_101311734delCCT																													14.37:g.101311741_101311743delCCT														0	143	-									RNA	DEL	ENST00000554041.1	37																																																																																						0.606	RP11-123M6.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000414687.1			2	4						2	4	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.581																																						ENST00000561463.1																			0																																																			0							g.chr15:102292874_102292876delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292874_102292876delCTC														0	920_922	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.581	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4						2	4	---	---	---	---
SPPL2B	56928	broad.mit.edu	37	19	2333196	2333197	+	RNA	DEL	CT	CT	-	rs34753713|rs397859351		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chr19:2333196_2333197delCT	ENST00000586111.2	+	0	780				SPPL2B_ENST00000452401.2_RNA																							CTGGACTAGACTCTGCTGGGAG	0.713																																						ENST00000452401.2																			0													signal peptide peptidase like 2B																																						56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2333196_2333197delCT																													19.37:g.2333198_2333199delCT						AC005258.3_ENST00000590001.1_RNA				Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	146	+		Hepatocellular(1079;0.137)							RNA	DEL	ENST00000586111.2	37																																																																																						0.713	AC004410.3-001	KNOWN	basic	sense_intronic	sense_intronic	OTTHUMT00000451389.2			3	5						3	5	---	---	---	---
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs35523939|rs72249350|rs139109693		TCGA-EM-A3FL-01A-11D-A21A-08	TCGA-EM-A3FL-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bbb522d-e224-4b3f-9e10-3a47d06b2b05	edbd0ee1-d300-4fbc-a490-29b3648fd480	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|RP13-43E11.1_ENST00000423919.1_RNA|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing. {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:8634709, ECO:0000269|PubMed:9162095}.		autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		636	0.168477	0.1657	0.1398	3775	,	,		8591	0.0129		0.2028	False		,,,				2504	0.1053					ENST00000378533.3																			2	Deletion - In frame(2)	p.L23delL(2)	prostate(2)	autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						c.(67-72)cgc>c		sushi-repeat containing protein, X-linked																																				SO:0001651	inframe_deletion	8406				cell adhesion	cell surface|membrane		g.chrX:38079976_38079978delGCA	U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.68_70delTGC	X.37:g.38079985_38079987delGCA	ENSP00000367794:p.Leu23del		OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	875	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron	p.LR23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN			1	174_176	-			23		Missing.			A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	In_Frame_Del	DEL	ENST00000378533.3	37	c.68_70delTGC	CCDS14245.1																																																																																				0.729	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056243.1	NM_006307		6	12						6	12	---	---	---	---
