#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
NRDE2	55051	broad.mit.edu	37	14	90770672	90770672	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr14:90770672T>C	ENST00000354366.3	-	5	844	c.612A>G	c.(610-612)atA>atG	p.I204M	NRDE2_ENST00000357904.3_De_novo_Start_InFrame	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	204																	CTTCCCAAGATATGCACTGCT	0.413																																						ENST00000354366.3																			0											c.(610-612)atA>atG		NRDE-2, necessary for RNA interference, domain containing							95.0	85.0	89.0					14																	90770672		2203	4300	6503	SO:0001583	missense	55051							g.chr14:90770672T>C	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.612A>G	14.37:g.90770672T>C	ENSP00000346335:p.Ile204Met					NRDE2_ENST00000357904.3_De_novo_Start_InFrame	p.I204M	NM_017970.3	NP_060440.2					5	844	-								B4DH71|Q4G0A7|Q9NWH6	Missense_Mutation	SNP	ENST00000354366.3	37	c.612A>G	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	T	17.83	3.484514	0.63962	.	.	ENSG00000119720	ENST00000354366	T	0.25579	1.79	5.22	2.81	0.32909	.	0.164283	0.52532	D	0.000068	T	0.36580	0.0972	M	0.69823	2.125	0.80722	D	1	P	0.48089	0.905	P	0.54499	0.754	T	0.06862	-1.0803	10	0.51188	T	0.08	-7.7686	5.5008	0.16827	0.267:0.0721:0.0:0.6609	.	204	Q9H7Z3	CN102_HUMAN	M	204	ENSP00000346335:I204M	ENSP00000346335:I204M	I	-	3	3	C14orf102	89840425	0.985000	0.35326	1.000000	0.80357	0.944000	0.59088	0.093000	0.15086	0.371000	0.24564	0.533000	0.62120	ATA		0.413	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		11	46	0	0	0	1	0	11	46				
KRT33B	3884	broad.mit.edu	37	17	39520187	39520187	+	Silent	SNP	G	G	A	rs139682874		TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr17:39520187G>A	ENST00000251646.3	-	7	1165	c.1116C>T	c.(1114-1116)tgC>tgT	p.C372C		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	372	Tail.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGGTGGTGGCGCAGGGGTTGG	0.522																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1114-1116)tgC>tgT		keratin 33B		G		0,4380		0,0,2190	121.0	125.0	124.0		1116	-4.2	1.0	17	dbSNP_134	124	1,8599		0,1,4299	no	coding-synonymous	KRT33B	NM_002279.3		0,1,6489	AA,AG,GG		0.0116,0.0,0.0077		372/405	39520187	1,12979	2190	4300	6490	SO:0001819	synonymous_variant	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39520187G>A	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.1116C>T	17.37:g.39520187G>A							p.C372C	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			7	1165	-		Breast(137;0.000496)	372			Tail.		O76010	Silent	SNP	ENST00000251646.3	37	c.1116C>T	CCDS11389.1																																																																																				0.522	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		3	56	0	0	0	1	0	3	56				
SPATA31D1	389763	broad.mit.edu	37	9	84606322	84606322	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr9:84606322C>G	ENST00000344803.2	+	4	984	c.937C>G	c.(937-939)Cag>Gag	p.Q313E		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	313					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CACTGTGACTCAGTCTAAATC	0.478																																						ENST00000344803.2																			0											c.(937-939)Cag>Gag		SPATA31 subfamily D, member 1							236.0	208.0	217.0					9																	84606322		1961	4149	6110	SO:0001583	missense	389763							g.chr9:84606322C>G		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.937C>G	9.37:g.84606322C>G	ENSP00000341988:p.Gln313Glu						p.Q313E	NM_001001670.2	NP_001001670.1					4	984	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.937C>G	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	7.353	0.623306	0.14193	.	.	ENSG00000214929	ENST00000344803	T	0.05649	3.41	2.25	1.26	0.21427	.	.	.	.	.	T	0.04588	0.0125	N	0.24115	0.695	0.09310	N	1	B	0.20988	0.05	B	0.17722	0.019	T	0.39663	-0.9603	9	0.45353	T	0.12	.	6.5663	0.22513	0.0:0.6966:0.3034:0.0	.	313	Q6ZQQ2	F75D1_HUMAN	E	313	ENSP00000341988:Q313E	ENSP00000341988:Q313E	Q	+	1	0	FAM75D1	83796142	0.000000	0.05858	0.007000	0.13788	0.045000	0.14185	0.238000	0.18004	0.473000	0.27368	0.461000	0.40582	CAG		0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		82	169	0	0	0	1	0	82	169				
FIGN	55137	broad.mit.edu	37	2	164466569	164466569	+	Silent	SNP	G	G	C			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr2:164466569G>C	ENST00000333129.3	-	3	2087	c.1773C>G	c.(1771-1773)ctC>ctG	p.L591L	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	591					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CTTGAGAGGAGAGAAGCATGT	0.468																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(1771-1773)ctC>ctG		fidgetin							68.0	67.0	67.0					2																	164466569		1970	4145	6115	SO:0001819	synonymous_variant	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466569G>C	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1773C>G	2.37:g.164466569G>C						FIGN_ENST00000409634.1_Intron	p.L591L	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	2087	-			591					B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	ENST00000333129.3	37	c.1773C>G	CCDS2221.2																																																																																				0.468	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		7	57	0	0	0	1	0	7	57				
LRBA	987	broad.mit.edu	37	4	151773137	151773137	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr4:151773137G>A	ENST00000357115.3	-	23	3968	c.3725C>T	c.(3724-3726)gCg>gTg	p.A1242V	LRBA_ENST00000507224.1_Missense_Mutation_p.A1242V|LRBA_ENST00000535741.1_Missense_Mutation_p.A1242V|LRBA_ENST00000510413.1_Missense_Mutation_p.A1242V	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1242						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATCCAACTTCGCAATCTTTTG	0.453																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(3724-3726)gCg>gTg		LPS-responsive vesicle trafficking, beach and anchor containing							115.0	108.0	110.0					4																	151773137		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151773137G>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.3725C>T	4.37:g.151773137G>A	ENSP00000349629:p.Ala1242Val					LRBA_ENST00000507224.1_Missense_Mutation_p.A1242V|LRBA_ENST00000357115.3_Missense_Mutation_p.A1242V|LRBA_ENST00000510413.1_Missense_Mutation_p.A1242V	p.A1242V			P50851	LRBA_HUMAN			23	4198	-	all_hematologic(180;0.151)		1242					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.3725C>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076272	0.55646	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.59502	0.7;0.85;0.7;0.26	5.78	4.94	0.65067	.	0.388378	0.24920	N	0.034542	T	0.47097	0.1427	L	0.34521	1.04	0.48341	D	0.999637	B;B	0.21452	0.033;0.056	B;B	0.17433	0.008;0.018	T	0.35450	-0.9788	10	0.28530	T	0.3	.	14.9442	0.71016	0.0684:0.0:0.9316:0.0	.	1242;1242	P50851;P50851-2	LRBA_HUMAN;.	V	1242	ENSP00000446299:A1242V;ENSP00000421552:A1242V;ENSP00000349629:A1242V;ENSP00000422180:A1242V	ENSP00000349629:A1242V	A	-	2	0	LRBA	151992587	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	7.450000	0.80656	1.590000	0.49995	0.591000	0.81541	GCG		0.453	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			3	38	0	0	0	1	0	3	38				
ANKHD1	54882	broad.mit.edu	37	5	139905804	139905804	+	Silent	SNP	G	G	A			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr5:139905804G>A	ENST00000360839.2	+	26	4870	c.4716G>A	c.(4714-4716)aaG>aaA	p.K1572K	ANKHD1_ENST00000297183.6_Silent_p.K1572K|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.K1572K|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000544120.1_5'UTR	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1572						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAACAAAAGGCAGATAAAA	0.393																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(4714-4716)aaG>aaA		ankyrin repeat and KH domain containing 1							127.0	147.0	140.0					5																	139905804		2203	4300	6503	SO:0001819	synonymous_variant	54882							g.chr5:139905804G>A	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4716G>A	5.37:g.139905804G>A						ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.K1572K|ANKHD1_ENST00000360839.2_Silent_p.K1572K|ANKHD1_ENST00000544120.1_5'UTR	p.K1572K	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		26	4840	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	c.4716G>A	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	6.893	0.534210	0.13188	.	.	ENSG00000131503	ENST00000435794;ENST00000432301	.	.	.	5.28	1.39	0.22231	.	.	.	.	.	T	0.57286	0.2043	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49835	-0.8897	4	.	.	.	.	8.8007	0.34907	0.5571:0.0:0.4429:0.0	.	.	.	.	S	63;23	.	.	G	+	1	0	ANKHD1	139885988	0.998000	0.40836	0.969000	0.41365	0.875000	0.50365	0.508000	0.22692	0.222000	0.20900	0.460000	0.39030	GGC		0.393	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		4	190	0	0	0	1	0	4	190				
RADIL	55698	broad.mit.edu	37	7	4874799	4874799	+	Silent	SNP	G	G	A			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr7:4874799G>A	ENST00000399583.3	-	4	1042	c.855C>T	c.(853-855)agC>agT	p.S285S	RADIL_ENST00000536091.1_Silent_p.S285S|RADIL_ENST00000538469.1_Silent_p.S45S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	285					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGAGGCTGATGCTGGGCTTGC	0.692																																						ENST00000399583.3																			0				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(853-855)agC>agT		Ras association and DIL domains							18.0	26.0	23.0					7																	4874799		2163	4251	6414	SO:0001819	synonymous_variant	55698				cell adhesion|multicellular organismal development|signal transduction		protein binding	g.chr7:4874799G>A	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.855C>T	7.37:g.4874799G>A						RADIL_ENST00000536091.1_Silent_p.S285S|RADIL_ENST00000538469.1_Silent_p.S45S	p.S285S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)	4	1042	-		Ovarian(82;0.0175)	285					A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	37	c.855C>T	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343045	0.41498	.	.	ENSG00000157927	ENST00000544486	.	.	.	4.75	3.87	0.44632	.	.	.	.	.	T	0.49915	0.1585	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31641	-0.9936	5	0.14656	T	0.56	-29.8687	10.4697	0.44629	0.091:0.0:0.909:0.0	.	.	.	.	V	20	.	ENSP00000437686:A20V	A	-	2	0	RADIL	4841325	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.090000	0.71397	0.999000	0.39023	0.655000	0.94253	GCA		0.692	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059		4	15	0	0	0	1	0	4	15				
TMEM72	643236	broad.mit.edu	37	10	45430339	45430339	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr10:45430339G>T	ENST00000544540.1	+	4	715	c.231G>T	c.(229-231)aaG>aaT	p.K77N	RP11-285G1.9_ENST00000425541.2_lincRNA|TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	195						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						GGACTAAGAAGCCCAGTGCCC	0.582																																						ENST00000544540.1																			0				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						c.(229-231)aaG>aaT		transmembrane protein 72							132.0	140.0	138.0					10																	45430339		1568	3582	5150	SO:0001583	missense	643236					integral to membrane		g.chr10:45430339G>T	AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 127"""	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.231G>T	10.37:g.45430339G>T	ENSP00000439911:p.Lys77Asn					TMEM72-AS1_ENST00000450287.2_RNA	p.K77N			A0PK05	TMM72_HUMAN			4	715	+			195					A1L181|Q5T740	Missense_Mutation	SNP	ENST00000544540.1	37	c.231G>T		.	.	.	.	.	.	.	.	.	.	G	5.729	0.318915	0.10845	.	.	ENSG00000187783	ENST00000389583;ENST00000544540	.	.	.	5.28	-0.149	0.13420	.	0.415963	0.23744	N	0.044993	T	0.26412	0.0645	L	0.46157	1.445	0.09310	N	1	B	0.20671	0.047	B	0.22152	0.038	T	0.09952	-1.0651	9	0.23891	T	0.37	-18.9415	1.4868	0.02448	0.3055:0.1324:0.4269:0.1352	.	195	A0PK05	TMM72_HUMAN	N	195;77	.	ENSP00000374234:K195N	K	+	3	2	TMEM72	44750345	0.000000	0.05858	0.027000	0.17364	0.563000	0.35712	-0.398000	0.07259	0.060000	0.16281	0.563000	0.77884	AAG		0.582	TMEM72-201	KNOWN	basic	protein_coding	protein_coding		NM_001123376		5	171	1	0	0.184627	1	0.184627	5	171				
FGF4	2249	broad.mit.edu	37	11	69588217	69588217	+	Missense_Mutation	SNP	G	G	T	rs140567674|rs386754668		TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr11:69588217G>T	ENST00000168712.1	-	3	799	c.481C>A	c.(481-483)Ctc>Atc	p.L161I	FGF4_ENST00000538040.1_5'UTR|AP001888.1_ENST00000602104.1_5'Flank	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	fibroblast growth factor 4	161					apoptotic process involved in morphogenesis (GO:0060561)|cartilage condensation (GO:0001502)|cell-cell signaling (GO:0007267)|chondroblast differentiation (GO:0060591)|cranial suture morphogenesis (GO:0060363)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)	cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	TTGGGAAGGAGAATCTCCTTG	0.567																																						ENST00000168712.1																			0				lung(3)	3						c.(481-483)Ctc>Atc		fibroblast growth factor 4	Pentosan Polysulfate(DB00686)						241.0	204.0	216.0					11																	69588217		2200	4294	6494	SO:0001583	missense	2249				cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade	extracellular region	growth factor activity|heparin binding	g.chr11:69588217G>T	M17446	CCDS8194.1	11q13.3	2014-01-30	2008-08-01		ENSG00000075388	ENSG00000075388		"""Endogenous ligands"""	3682	protein-coding gene	gene with protein product	"""human stomach cancer, transforming factor from FGF-related oncogene"", ""kaposi sarcoma oncogene"", ""transforming protein KS3"""	164980	"""heparin secretory transforming protein 1"""	HSTF1		1611909	Standard	NM_002007		Approved	K-FGF, HBGF-4, HST, HST-1, KFGF	uc001opg.1	P08620	OTTHUMG00000167887	ENST00000168712.1:c.481C>A	11.37:g.69588217G>T	ENSP00000168712:p.Leu161Ile					FGF4_ENST00000538040.1_5'UTR	p.L161I	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		3	799	-	Melanoma(5;1.89e-05)		161					B7U994	Missense_Mutation	SNP	ENST00000168712.1	37	c.481C>A	CCDS8194.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069651	0.76301	.	.	ENSG00000075388	ENST00000168712	D	0.81499	-1.5	5.81	3.94	0.45596	.	0.000000	0.38492	N	0.001672	T	0.82268	0.5000	L	0.49455	1.56	0.58432	D	0.999995	P	0.37061	0.58	P	0.50440	0.641	T	0.78206	-0.2294	9	.	.	.	.	12.1333	0.53955	0.138:0.0:0.862:0.0	.	161	P08620	FGF4_HUMAN	I	161	ENSP00000168712:L161I	.	L	-	1	0	FGF4	69297398	1.000000	0.71417	0.008000	0.14137	0.801000	0.45260	7.164000	0.77533	0.799000	0.34018	0.655000	0.94253	CTC		0.567	FGF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396834.2	NM_002007		5	116	1	0	2.0095e-06	1	2.14346e-06	5	116				
OR7D4	125958	broad.mit.edu	37	19	9325026	9325026	+	Missense_Mutation	SNP	A	A	C			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr19:9325026A>C	ENST00000308682.2	-	1	516	c.488T>G	c.(487-489)aTg>aGg	p.M163R		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CAACCTCTTCATCAGTAGAAT	0.512																																						ENST00000308682.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(487-489)aTg>aGg		olfactory receptor, family 7, subfamily D, member 4							80.0	76.0	77.0					19																	9325026		2203	4300	6503	SO:0001583	missense	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9325026A>C		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.488T>G	19.37:g.9325026A>C	ENSP00000310488:p.Met163Arg						p.M163R	NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN			1	516	-			163					A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	37	c.488T>G	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	A	13.17	2.158195	0.38119	.	.	ENSG00000174667	ENST00000308682	T	0.00054	8.8	3.76	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.610036	0.16524	N	0.210659	T	0.00328	0.0010	M	0.76170	2.325	0.09310	N	1	P	0.44816	0.844	P	0.54590	0.756	T	0.33497	-0.9866	10	0.87932	D	0	.	7.2516	0.26152	0.8888:0.0:0.1112:0.0	.	163	Q8NG98	OR7D4_HUMAN	R	163	ENSP00000310488:M163R	ENSP00000310488:M163R	M	-	2	0	OR7D4	9186026	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.044000	0.12023	0.644000	0.30656	0.358000	0.22013	ATG		0.512	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			20	52	0	0	0	1	0	20	52				
TTLL5	23093	broad.mit.edu	37	14	76349085	76349085	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr14:76349085G>A	ENST00000298832.9	+	30	3785	c.3580G>A	c.(3580-3582)Gca>Aca	p.A1194T	TTLL5_ENST00000556893.1_Missense_Mutation_p.A745T|TTLL5_ENST00000557636.1_Missense_Mutation_p.A1209T|TTLL5_ENST00000554510.1_Missense_Mutation_p.A703T	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1194					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GAATAATGGTGCAGGTTGTAG	0.453																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(3580-3582)Gca>Aca		tubulin tyrosine ligase-like family, member 5							89.0	91.0	91.0					14																	76349085		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76349085G>A	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.3580G>A	14.37:g.76349085G>A	ENSP00000298832:p.Ala1194Thr					TTLL5_ENST00000557636.1_Missense_Mutation_p.A1209T|TTLL5_ENST00000554510.1_Missense_Mutation_p.A703T|TTLL5_ENST00000556893.1_Missense_Mutation_p.A745T	p.A1194T	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	30	3785	+			1194					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.3580G>A	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330419	0.41297	.	.	ENSG00000119685	ENST00000286653;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.24350	3.96;4.04;1.86;1.86	5.18	0.925	0.19424	.	0.565064	0.17922	N	0.157471	T	0.12902	0.0313	N	0.19112	0.55	0.21984	N	0.99944	B;B;B;B	0.14805	0.003;0.011;0.005;0.001	B;B;B;B	0.16289	0.003;0.015;0.011;0.001	T	0.16188	-1.0411	10	0.46703	T	0.11	.	3.3292	0.07077	0.1541:0.1409:0.5683:0.1367	.	1209;268;745;1194	G3V2J9;F8W7N3;Q6EMB2-2;Q6EMB2	.;.;.;TTLL5_HUMAN	T	268;1209;1194;745;745;703	ENSP00000450713:A1209T;ENSP00000298832:A1194T;ENSP00000452524:A745T;ENSP00000451946:A703T	ENSP00000286653:A268T	A	+	1	0	TTLL5	75418838	1.000000	0.71417	0.979000	0.43373	0.893000	0.52053	0.846000	0.27682	0.388000	0.25054	0.655000	0.94253	GCA		0.453	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		17	60	0	0	0	1	0	17	60				
CEP44	80817	broad.mit.edu	37	4	175225405	175225405	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr4:175225405C>T	ENST00000503780.1	+	6	806	c.392C>T	c.(391-393)tCa>tTa	p.S131L	CEP44_ENST00000457424.2_Missense_Mutation_p.S131L|CEP44_ENST00000296519.4_Missense_Mutation_p.S131L|CEP44_ENST00000426172.1_Missense_Mutation_p.S131L	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	131						centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|spindle pole (GO:0000922)				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						TAGATTCCATCACAACAAAGA	0.303																																						ENST00000503780.1																			0				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						c.(391-393)tCa>tTa		centrosomal protein 44kDa							54.0	58.0	56.0					4																	175225405		2203	4300	6503	SO:0001583	missense	80817					centrosome|midbody|spindle pole		g.chr4:175225405C>T	AB051499	CCDS34106.1, CCDS47163.1	4q34	2014-02-20	2011-05-06	2011-05-06	ENSG00000164118	ENSG00000164118			29356	protein-coding gene	gene with protein product			"""KIAA1712"""	KIAA1712		21399614	Standard	NM_001040157		Approved		uc010iro.2	Q9C0F1	OTTHUMG00000160752	ENST00000503780.1:c.392C>T	4.37:g.175225405C>T	ENSP00000423153:p.Ser131Leu					CEP44_ENST00000426172.1_Missense_Mutation_p.S131L|CEP44_ENST00000457424.2_Missense_Mutation_p.S131L|CEP44_ENST00000296519.4_Missense_Mutation_p.S131L	p.S131L	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN			6	806	+			131					A8K8W9|A8MW11|B3KT53|D3DP42|Q8IXZ4	Missense_Mutation	SNP	ENST00000503780.1	37	c.392C>T	CCDS34106.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467015	0.43839	.	.	ENSG00000164118	ENST00000503780;ENST00000457424;ENST00000515299;ENST00000503053;ENST00000426172;ENST00000296519	T;T;T;T;T	0.48836	0.81;0.8;0.85;0.8;0.81	5.01	4.17	0.49024	.	0.654628	0.14643	N	0.307092	T	0.45175	0.1329	L	0.60455	1.87	0.38851	D	0.956284	B;B	0.20550	0.033;0.046	B;B	0.22601	0.04;0.028	T	0.47674	-0.9099	10	0.72032	D	0.01	.	10.0492	0.42205	0.0:0.8378:0.0:0.1622	.	131;131	Q9C0F1-2;Q9C0F1	.;CEP44_HUMAN	L	131	ENSP00000423153:S131L;ENSP00000389427:S131L;ENSP00000421128:S131L;ENSP00000408221:S131L;ENSP00000296519:S131L	ENSP00000296519:S131L	S	+	2	0	CEP44	175461980	0.000000	0.05858	1.000000	0.80357	0.827000	0.46813	0.204000	0.17335	1.229000	0.43630	0.462000	0.41574	TCA		0.303	CEP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362109.2	NM_030633		9	51	0	0	0	1	0	9	51				
NLRX1	79671	broad.mit.edu	37	11	119045313	119045313	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr11:119045313C>T	ENST00000409109.1	+	6	1588	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V	NLRX1_ENST00000409265.4_Missense_Mutation_p.A334V|NLRX1_ENST00000525863.1_Missense_Mutation_p.A334V|NLRX1_ENST00000292199.2_Missense_Mutation_p.A334V|NLRX1_ENST00000409991.1_Missense_Mutation_p.A334V	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	334	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGCGGGTATGCCGTTGGCGGT	0.607																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1000-1002)gCc>gTc		NLR family member X1							108.0	106.0	107.0					11																	119045313		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119045313C>T	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1001C>T	11.37:g.119045313C>T	ENSP00000387334:p.Ala334Val					NLRX1_ENST00000409265.4_Missense_Mutation_p.A334V|NLRX1_ENST00000525863.1_Missense_Mutation_p.A334V|NLRX1_ENST00000409991.1_Missense_Mutation_p.A334V|NLRX1_ENST00000292199.2_Missense_Mutation_p.A334V	p.A334V			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	6	1588	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	334			NACHT.|Required for interaction with MAVS.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.1001C>T	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	C	4.937	0.174157	0.09391	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.71222	-0.45;-0.45;-0.55;-0.45;-0.55	5.57	2.47	0.30058	.	0.579236	0.17487	N	0.172485	T	0.43875	0.1267	N	0.08118	0	0.09310	N	1	B;B	0.17038	0.001;0.02	B;B	0.14023	0.003;0.01	T	0.22103	-1.0226	10	0.48119	T	0.1	.	2.686	0.05107	0.15:0.3204:0.3977:0.132	.	334;334	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	V	334	ENSP00000386851:A334V;ENSP00000292199:A334V;ENSP00000386858:A334V;ENSP00000387334:A334V;ENSP00000433442:A334V	ENSP00000292199:A334V	A	+	2	0	NLRX1	118550523	0.002000	0.14202	0.002000	0.10522	0.001000	0.01503	1.189000	0.32114	1.394000	0.46624	0.644000	0.83932	GCC		0.607	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		4	166	0	0	0	1	0	4	166				
HNRNPR	10236	broad.mit.edu	37	1	23637361	23637361	+	Silent	SNP	G	G	C			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr1:23637361G>C	ENST00000374612.1	-	11	1611	c.1488C>G	c.(1486-1488)ggC>ggG	p.G496G	HNRNPR_ENST00000426846.2_Silent_p.G336G|HNRNPR_ENST00000478691.1_Silent_p.G398G|HNRNPR_ENST00000606561.1_Silent_p.G357G|HNRNPR_ENST00000427764.2_Silent_p.G458G|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000374616.3_Silent_p.G499G|HNRNPR_ENST00000302271.6_Silent_p.G496G	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	496	3 X 11 AA approximate repeats of D-D-Y-Y- G-Y-D-Y-H-D-Y.|RNA-binding RGG-box.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		ttactGCATAGCCATCATCAT	0.498																																						ENST00000478691.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1192-1194)ggC>ggG		heterogeneous nuclear ribonucleoprotein R							109.0	112.0	111.0					1																	23637361		2203	4300	6503	SO:0001819	synonymous_variant	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23637361G>C	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.1488C>G	1.37:g.23637361G>C						HNRNPR_ENST00000427764.2_Silent_p.G458G|HNRNPR_ENST00000426846.2_Silent_p.G336G|HNRNPR_ENST00000606561.1_Silent_p.G357G|HNRNPR_ENST00000374616.3_Silent_p.G499G|HNRNPR_ENST00000302271.6_Silent_p.G496G|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000374612.1_Silent_p.G496G	p.G398G	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	10	1465	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	496			RRM 3.		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Silent	SNP	ENST00000374612.1	37	c.1194C>G	CCDS232.1																																																																																				0.498	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		27	67	0	0	0	1	0	27	67				
LONP1	9361	broad.mit.edu	37	19	5711843	5711843	+	Missense_Mutation	SNP	A	A	C			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr19:5711843A>C	ENST00000360614.3	-	4	966	c.809T>G	c.(808-810)gTg>gGg	p.V270G	LONP1_ENST00000593119.1_Missense_Mutation_p.V206G|LONP1_ENST00000585374.1_Missense_Mutation_p.V156G|LONP1_ENST00000590729.1_Missense_Mutation_p.V156G|LONP1_ENST00000540670.2_Missense_Mutation_p.V74G	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACCATGAGCACCTCAGCCGG	0.657																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(808-810)gTg>gGg		lon peptidase 1, mitochondrial							80.0	74.0	76.0					19																	5711843		2203	4300	6503	SO:0001583	missense	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5711843A>C	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.809T>G	19.37:g.5711843A>C	ENSP00000353826:p.Val270Gly					LONP1_ENST00000540670.2_Missense_Mutation_p.V74G|LONP1_ENST00000585374.1_Missense_Mutation_p.V156G|LONP1_ENST00000593119.1_Missense_Mutation_p.V206G|LONP1_ENST00000590729.1_Missense_Mutation_p.V156G	p.V270G	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			4	966	-			270			Lon.			Missense_Mutation	SNP	ENST00000360614.3	37	c.809T>G	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.194127	0.78902	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.27402	1.93;1.67	4.87	4.87	0.63330	Peptidase S16, lon N-terminal (2);	0.212646	0.39909	N	0.001239	T	0.55545	0.1927	M	0.87547	2.89	0.80722	D	1	P;P;P	0.45827	0.867;0.785;0.867	P;P;P	0.57720	0.826;0.742;0.826	T	0.61850	-0.6978	10	0.56958	D	0.05	-3.7462	12.4245	0.55538	1.0:0.0:0.0:0.0	.	270;206;270	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	G	270;234;74	ENSP00000353826:V270G;ENSP00000441523:V74G	ENSP00000351177:V234G	V	-	2	0	LONP1	5662843	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	8.207000	0.89746	1.825000	0.53177	0.454000	0.30748	GTG		0.657	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		7	69	0	0	0	1	0	7	69				
WIPI1	55062	broad.mit.edu	37	17	66440641	66440641	+	Silent	SNP	G	G	A			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr17:66440641G>A	ENST00000262139.5	-	4	422	c.423C>T	c.(421-423)aaC>aaT	p.N141N	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Silent_p.N59N	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	141					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						CACCTGTTGGGTTTGCAGGAA	0.423																																						ENST00000262139.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						c.(421-423)aaC>aaT		WD repeat domain, phosphoinositide interacting 1							140.0	129.0	132.0					17																	66440641		2203	4300	6503	SO:0001819	synonymous_variant	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66440641G>A		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.423C>T	17.37:g.66440641G>A						WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Silent_p.N59N	p.N141N	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN			4	422	-			141					Q8IXM5|Q9NWF8	Silent	SNP	ENST00000262139.5	37	c.423C>T	CCDS11677.1																																																																																				0.423	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		19	53	0	0	0	1	0	19	53				
ZNF254	9534	broad.mit.edu	37	19	24310294	24310294	+	Missense_Mutation	SNP	T	T	G	rs554981870		TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr19:24310294T>G	ENST00000357002.4	+	4	1607	c.1492T>G	c.(1492-1494)Tct>Gct	p.S498A	ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	498					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATGTGGCAAATCTTTTAGCCA	0.408																																						ENST00000357002.4																			0											c.(1492-1494)Tct>Gct		zinc finger protein 254							60.0	62.0	61.0					19																	24310294		2201	4297	6498	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310294T>G	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1492T>G	19.37:g.24310294T>G	ENSP00000349494:p.Ser498Ala					ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	p.S498A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1607	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	498					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1492T>G	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	T	0.001	-3.794782	0.00004	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.35605	1.3;1.3	1.07	-0.329	0.12686	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12689	0.0308	N	0.04686	-0.185	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32322	-0.9911	9	0.02654	T	1	.	5.3479	0.16020	0.0:0.0:0.4143:0.5857	.	498	O75437	ZN254_HUMAN	A	413;498	ENSP00000445527:S413A;ENSP00000349494:S498A	ENSP00000445527:S413A	S	+	1	0	ZNF254	24102134	0.000000	0.05858	0.038000	0.18304	0.305000	0.27757	-1.126000	0.03254	-0.309000	0.08779	-0.762000	0.03455	TCT		0.408	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		3	70	0	0	0	1	0	3	70				
BRPF1	7862	broad.mit.edu	37	3	9780727	9780727	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr3:9780727A>G	ENST00000457855.1	+	2	655	c.644A>G	c.(643-645)tAt>tGt	p.Y215C	BRPF1_ENST00000302054.3_Missense_Mutation_p.Y215C|BRPF1_ENST00000383829.2_Missense_Mutation_p.Y215C|BRPF1_ENST00000433861.2_Missense_Mutation_p.Y215C|BRPF1_ENST00000424362.1_Missense_Mutation_p.Y215C			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	215	Interaction with KAT6A and KAT6B.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GAAGTAGAGTATGACATGGAC	0.498																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(643-645)tAt>tGt		bromodomain and PHD finger containing, 1							124.0	117.0	119.0					3																	9780727		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9780727A>G	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.644A>G	3.37:g.9780727A>G	ENSP00000410210:p.Tyr215Cys					BRPF1_ENST00000457855.1_Missense_Mutation_p.Y215C|BRPF1_ENST00000302054.3_Missense_Mutation_p.Y215C|BRPF1_ENST00000424362.1_Missense_Mutation_p.Y215C|BRPF1_ENST00000433861.2_Missense_Mutation_p.Y215C	p.Y215C	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			3	1048	+	Medulloblastoma(99;0.227)		215			Interaction with MYST3 and MYST4.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.644A>G	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.551681	0.45487	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59	5.54	5.54	0.83059	Enhancer of polycomb-like, N-terminal (1);	0.107851	0.64402	D	0.000003	D	0.92355	0.7574	M	0.88512	2.96	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93679	0.6997	10	0.87932	D	0	.	15.8465	0.78895	1.0:0.0:0.0:0.0	.	215;215;215;215	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	C	215	ENSP00000402485:Y215C;ENSP00000398863:Y215C;ENSP00000373340:Y215C;ENSP00000306297:Y215C;ENSP00000410210:Y215C	ENSP00000306297:Y215C	Y	+	2	0	BRPF1	9755727	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.761000	0.91691	2.326000	0.78906	0.533000	0.62120	TAT		0.498	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		8	43	0	0	0	1	0	8	43				
IL1R2	7850	broad.mit.edu	37	2	102632417	102632417	+	Silent	SNP	G	G	A			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr2:102632417G>A	ENST00000332549.3	+	4	646	c.417G>A	c.(415-417)ccG>ccA	p.P139P	IL1R2_ENST00000393414.2_Silent_p.P139P|IL1R2_ENST00000441002.1_Silent_p.P139P	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	139	Ig-like C2-type 2.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						TCTCATACCCGCAAATTTTAA	0.413																																					Pancreas(106;189 1628 2302 5133 12295)	ENST00000332549.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						c.(415-417)ccG>ccA		interleukin 1 receptor, type II	Anakinra(DB00026)						89.0	86.0	87.0					2																	102632417		2203	4300	6503	SO:0001819	synonymous_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102632417G>A	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.417G>A	2.37:g.102632417G>A						IL1R2_ENST00000393414.2_Silent_p.P139P|IL1R2_ENST00000441002.1_Silent_p.P139P	p.P139P	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN			4	646	+			139			Ig-like C2-type 2.		D3DVJ5|Q6LCE6|Q9UE68	Silent	SNP	ENST00000332549.3	37	c.417G>A	CCDS2054.1																																																																																				0.413	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		3	61	0	0	0	1	0	3	61				
NOSTRIN	115677	broad.mit.edu	37	2	169716116	169716116	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr2:169716116G>T	ENST00000317647.7	+	13	1377	c.1148G>T	c.(1147-1149)tGt>tTt	p.C383F	NOSTRIN_ENST00000421711.2_Missense_Mutation_p.C355F|NOSTRIN_ENST00000444448.2_Missense_Mutation_p.C440F|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.C305F|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.C355F|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.C305F|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.C440F	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	383					endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AGCCATCCTTGTAGTAATTCC	0.433																																						ENST00000444448.2																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(1318-1320)tGt>tTt		nitric oxide synthase trafficking							136.0	130.0	131.0					2																	169716116		1911	4121	6032	SO:0001583	missense	115677				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding	g.chr2:169716116G>T	AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"""nitric oxide synthase trafficker"""			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.1148G>T	2.37:g.169716116G>T	ENSP00000318921:p.Cys383Phe					NOSTRIN_ENST00000445023.2_Missense_Mutation_p.C305F|NOSTRIN_ENST00000317647.7_Missense_Mutation_p.C383F|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.C355F|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.C440F|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.C355F|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.C305F	p.C440F			Q8IVI9	NOSTN_HUMAN			16	1795	+			383			SH3.		A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Missense_Mutation	SNP	ENST00000317647.7	37	c.1319G>T	CCDS42771.1	.	.	.	.	.	.	.	.	.	.	G	7.106	0.574976	0.13623	.	.	ENSG00000163072	ENST00000458381;ENST00000444448;ENST00000317647;ENST00000445023;ENST00000397206;ENST00000397209;ENST00000421711	T;T;T;T;T;T;T	0.35789	1.47;1.47;1.29;1.49;1.49;1.49;1.49	5.3	4.42	0.53409	.	0.272597	0.41605	D	0.000846	T	0.29882	0.0747	L	0.46741	1.465	0.80722	D	1	B;B;P;B;B;B	0.47302	0.032;0.01;0.893;0.006;0.003;0.007	B;B;B;B;B;B	0.42319	0.008;0.003;0.383;0.004;0.001;0.004	T	0.05971	-1.0853	10	0.10377	T	0.69	-1.308	11.9701	0.53060	0.0852:0.0:0.9148:0.0	.	355;305;440;277;383;440	Q8IVI9-2;Q8IVI9-3;B3KSF5;D3DPB9;Q8IVI9;E7EPT9	.;.;.;.;NOSTN_HUMAN;.	F	440;440;383;305;305;355;355	ENSP00000402140:C440F;ENSP00000394051:C440F;ENSP00000318921:C383F;ENSP00000404413:C305F;ENSP00000380390:C305F;ENSP00000380392:C355F;ENSP00000401316:C355F	ENSP00000318921:C383F	C	+	2	0	NOSTRIN	169424362	0.990000	0.36364	0.999000	0.59377	0.836000	0.47400	2.763000	0.47605	1.368000	0.46115	0.655000	0.94253	TGT		0.433	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333356.4	NM_052946		4	98	1	0	0.014758	1	0.015072	4	98				
NLRP14	338323	broad.mit.edu	37	11	7060028	7060028	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr11:7060028G>A	ENST00000299481.4	+	2	557	c.211G>A	c.(211-213)Gcc>Acc	p.A71T		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	71	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGGAGAGAAAGCCTGGAGTGT	0.483																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(211-213)Gcc>Acc		NLR family, pyrin domain containing 14							54.0	59.0	57.0					11																	7060028		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7060028G>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.211G>A	11.37:g.7060028G>A	ENSP00000299481:p.Ala71Thr						p.A71T	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	2	557	+			71			DAPIN.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.211G>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.396609	0.62177	.	.	ENSG00000158077	ENST00000299481	T	0.68181	-0.31	4.22	3.31	0.37934	Pyrin (2);DEATH-like (2);	0.300392	0.24254	N	0.040141	T	0.67382	0.2887	M	0.78456	2.415	0.25185	N	0.990175	P	0.41624	0.757	B	0.43728	0.429	T	0.62969	-0.6741	10	0.56958	D	0.05	.	7.893	0.29688	0.1104:0.0:0.8896:0.0	.	71	Q86W24	NAL14_HUMAN	T	71	ENSP00000299481:A71T	ENSP00000299481:A71T	A	+	1	0	NLRP14	7016604	0.924000	0.31332	0.841000	0.33234	0.557000	0.35523	1.950000	0.40323	1.374000	0.46228	0.655000	0.94253	GCC		0.483	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		6	34	0	0	0	1	0	6	34				
HECA	51696	broad.mit.edu	37	6	139487664	139487664	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr6:139487664C>T	ENST00000367658.2	+	2	800	c.515C>T	c.(514-516)gCc>gTc	p.A172V	RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	172					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TACGACCTGGCCTTCCGCTTC	0.572																																						ENST00000367658.2																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15						c.(514-516)gCc>gTc		headcase homolog (Drosophila)							91.0	96.0	95.0					6																	139487664		2203	4300	6503	SO:0001583	missense	51696				respiratory tube development			g.chr6:139487664C>T	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.515C>T	6.37:g.139487664C>T	ENSP00000356630:p.Ala172Val					RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA	p.A172V	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	2	800	+			172						Missense_Mutation	SNP	ENST00000367658.2	37	c.515C>T	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853220	0.71719	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.52805	0.1757	N	0.16708	0.43	0.80722	D	1	D	0.71674	0.998	D	0.66084	0.941	T	0.50792	-0.8786	9	0.31617	T	0.26	.	19.2104	0.93751	0.0:1.0:0.0:0.0	.	172	Q9UBI9	HDC_HUMAN	V	172	.	ENSP00000356630:A172V	A	+	2	0	HECA	139529357	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.186000	0.77722	2.847000	0.97988	0.655000	0.94253	GCC		0.572	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217		22	70	0	0	0	1	0	22	70				
MLLT4	4301	broad.mit.edu	37	6	168352505	168352505	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr6:168352505C>T	ENST00000447894.2	+	29	4450	c.4450C>T	c.(4450-4452)Cag>Tag	p.Q1484*	MLLT4_ENST00000366806.2_Nonsense_Mutation_p.Q1484*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.Q1467*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.Q1491*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.Q1483*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.Q1484*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.Q1484*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1484					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GCTGCAGCCTCAGCAGCAGCC	0.597			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4450-4452)Cag>Tag		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							61.0	64.0	63.0					6																	168352505		2203	4300	6503	SO:0001587	stop_gained	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168352505C>T	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4450C>T	6.37:g.168352505C>T	ENSP00000404595:p.Gln1484*					MLLT4_ENST00000351017.4_Nonsense_Mutation_p.Q1491*|MLLT4_ENST00000447894.2_Nonsense_Mutation_p.Q1484*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.Q1484*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.Q1483*|MLLT4_ENST00000392108.3_Nonsense_Mutation_p.Q1484*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.Q1467*	p.Q1484*			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	30	4592	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1484					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Nonsense_Mutation	SNP	ENST00000447894.2	37	c.4450C>T		.	.	.	.	.	.	.	.	.	.	C	46	12.280937	0.99653	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-35.1647	18.7722	0.91896	0.0:1.0:0.0:0.0	.	.	.	.	X	1484;1491;1484;1484;1467;1484;1483;1484	.	ENSP00000345834:Q1484X	Q	+	1	0	MLLT4	168095354	1.000000	0.71417	0.985000	0.45067	0.826000	0.46750	7.262000	0.78410	2.423000	0.82170	0.561000	0.74099	CAG		0.597	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		19	106	0	0	0	1	0	19	106				
RPL15	6138	broad.mit.edu	37	3	23960791	23960791	+	Silent	SNP	C	C	T			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr3:23960791C>T	ENST00000307839.5	+	4	1053	c.414C>T	c.(412-414)ttC>ttT	p.F138F	NKIRAS1_ENST00000443659.2_5'Flank|NKIRAS1_ENST00000421515.2_Intron|NKIRAS1_ENST00000388759.3_5'Flank|NKIRAS1_ENST00000416026.2_5'Flank|NKIRAS1_ENST00000437230.1_5'Flank|NKIRAS1_ENST00000415901.2_5'Flank|RPL15_ENST00000456530.2_Intron|NKIRAS1_ENST00000425478.2_5'Flank|RPL15_ENST00000435882.1_Silent_p.F138F|RPL15_ENST00000415719.1_Silent_p.F138F|RPL15_ENST00000354811.5_Silent_p.F138F|NKIRAS1_ENST00000412028.1_5'Flank|RPL15_ENST00000413699.1_Silent_p.F138F	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	138					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						TTGATCCATTCCATAAAGCTA	0.493																																						ENST00000307839.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(412-414)ttC>ttT		ribosomal protein L15							29.0	31.0	30.0					3																	23960791		2169	4258	6427	SO:0001819	synonymous_variant	6138				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr3:23960791C>T	AB007173	CCDS2640.1, CCDS58818.1	3p24.1	2011-04-06			ENSG00000174748	ENSG00000174748		"""L ribosomal proteins"""	10306	protein-coding gene	gene with protein product		604174				9582194	Standard	NM_002948		Approved	RPL10, RPLY10, RPYL10, EC45, L15	uc003ccp.3	P61313	OTTHUMG00000130485	ENST00000307839.5:c.414C>T	3.37:g.23960791C>T						RPL15_ENST00000413699.1_Silent_p.F138F|RPL15_ENST00000354811.5_Silent_p.F138F|RPL15_ENST00000415719.1_Silent_p.F138F|RPL15_ENST00000435882.1_Silent_p.F138F|RPL15_ENST00000456530.2_Intron|NKIRAS1_ENST00000421515.2_Intron	p.F138F	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN			4	1053	+			138					P39030|P41051|Q5U0C0|Q642I1|Q6IPX6|Q8WYP2|Q96C44|Q9H2E5	Silent	SNP	ENST00000307839.5	37	c.414C>T	CCDS2640.1																																																																																				0.493	RPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252885.3	NM_002948		10	48	0	0	0	1	0	10	48				
ACAA1	30	broad.mit.edu	37	3	38163242	38163242	+	IGR	SNP	G	G	A			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr3:38163242G>A	ENST00000333167.8	-	0	1785				DLEC1_ENST00000452631.2_Missense_Mutation_p.G1667R|DLEC1_ENST00000346219.3_Missense_Mutation_p.G1664R|ACAA1_ENST00000480865.1_5'Flank|DLEC1_ENST00000308059.6_Missense_Mutation_p.G1664R	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GAACCTGAGCGGGTGCCGAAG	0.617																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(4990-4992)Ggg>Agg		deleted in lung and esophageal cancer 1							72.0	77.0	75.0					3																	38163242		2053	4196	6249	SO:0001628	intergenic_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38163242G>A	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		3.37:g.38163242G>A						DLEC1_ENST00000346219.3_Missense_Mutation_p.G1664R|DLEC1_ENST00000452631.2_Missense_Mutation_p.G1667R	p.G1664R			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	35	5011	+			1664					G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	37	c.4990G>A	CCDS2673.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286194	0.59867	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05319	3.49;3.46;3.71	4.28	-1.22	0.09494	.	0.289979	0.33235	N	0.005130	T	0.10165	0.0249	L	0.59436	1.845	0.34463	D	0.701967	D;D;D;D;D	0.64830	0.994;0.994;0.993;0.994;0.994	P;P;P;P;P	0.58013	0.831;0.831;0.759;0.831;0.831	T	0.33904	-0.9850	10	0.30078	T	0.28	-9.2687	2.824	0.05480	0.2881:0.1146:0.4806:0.1167	.	1667;1664;1664;1664;1664	F8W6T4;B1B5Y4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;.;DLEC1_HUMAN	R	1664;1664;1667	ENSP00000308597:G1664R;ENSP00000315914:G1664R;ENSP00000410427:G1667R	ENSP00000308597:G1664R	G	+	1	0	DLEC1	38138246	0.000000	0.05858	0.437000	0.26809	0.943000	0.58893	-1.123000	0.03263	0.054000	0.16065	0.556000	0.70494	GGG		0.617	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		10	63	0	0	0	1	0	10	63				
C17orf80	55028	broad.mit.edu	37	17	71232291	71232291	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr17:71232291C>T	ENST00000535032.2	+	2	783	c.670C>T	c.(670-672)Cct>Tct	p.P224S	C17orf80_ENST00000426147.2_Missense_Mutation_p.P224S|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000268942.8_Missense_Mutation_p.P224S|C17orf80_ENST00000577615.1_Missense_Mutation_p.P224S|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000359042.2_Missense_Mutation_p.P224S|C17orf80_ENST00000255557.4_Missense_Mutation_p.P224S			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	224						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			ACTAGATGTGCCTACTGGTGA	0.383																																						ENST00000359042.2																			0				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(670-672)Cct>Tct		chromosome 17 open reading frame 80							74.0	79.0	77.0					17																	71232291		2203	4300	6503	SO:0001583	missense	55028					integral to membrane		g.chr17:71232291C>T	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"""sperm-expressed protein 1"", ""migration-inducing protein 3"""					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.670C>T	17.37:g.71232291C>T	ENSP00000440551:p.Pro224Ser					C17orf80_ENST00000268942.8_Missense_Mutation_p.P224S|C17orf80_ENST00000426147.2_Missense_Mutation_p.P224S|C17orf80_ENST00000535032.2_Missense_Mutation_p.P224S|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000577615.1_Missense_Mutation_p.P224S|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000255557.4_Missense_Mutation_p.P224S	p.P224S	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	864	+			224					A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Missense_Mutation	SNP	ENST00000535032.2	37	c.670C>T	CCDS11694.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.740015	0.49045	.	.	ENSG00000141219	ENST00000255557;ENST00000359042;ENST00000268942;ENST00000426147;ENST00000535032	T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82	5.14	0.908	0.19326	.	0.824954	0.10974	N	0.613462	T	0.27241	0.0668	L	0.41824	1.3	0.09310	N	1	P;D;P;D	0.57899	0.946;0.976;0.946;0.981	P;P;P;P	0.54889	0.509;0.698;0.509;0.763	T	0.17077	-1.0381	10	0.21540	T	0.41	-3.3004	5.1791	0.15150	0.0:0.6101:0.1519:0.238	.	224;224;224;224	B7Z7E5;Q9BSJ5;Q9BSJ5-2;Q9BSJ5-3	.;CQ080_HUMAN;.;.	S	224	ENSP00000255557:P224S;ENSP00000351937:P224S;ENSP00000268942:P224S;ENSP00000396970:P224S;ENSP00000440551:P224S	ENSP00000255557:P224S	P	+	1	0	C17orf80	68743886	0.004000	0.15560	0.000000	0.03702	0.105000	0.19272	0.464000	0.21988	-0.037000	0.13646	0.561000	0.74099	CCT		0.383	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		9	54	0	0	0	1	0	9	54				
MED12	9968	broad.mit.edu	37	X	70349258	70349258	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chrX:70349258C>T	ENST00000374080.3	+	26	3702	c.3670C>T	c.(3670-3672)Ctc>Ttc	p.L1224F	MED12_ENST00000333646.6_Missense_Mutation_p.L1224F|MED12_ENST00000374102.1_Missense_Mutation_p.L1224F			Q93074	MED12_HUMAN	mediator complex subunit 12	1224					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.L1224F(10)|p.V1223>?(2)|p.L1224V(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTTTGCTGTTCTCAAGGCTGT	0.562			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		14	Substitution - Missense(12)|Complex(2)	p.L1224F(10)|p.V1223>?(2)|p.L1224V(2)	prostate(12)|lung(2)	breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3670-3672)Ctc>Ttc		mediator complex subunit 12							49.0	51.0	51.0					X																	70349258		2086	4189	6275	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349258C>T	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3670C>T	X.37:g.70349258C>T	ENSP00000363193:p.Leu1224Phe		OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_ENST00000374102.1_Missense_Mutation_p.L1224F|MED12_ENST00000374080.3_Missense_Mutation_p.L1224F	p.L1224F	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			26	3869	+	Renal(35;0.156)		1224					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3670C>T	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.946602	0.73672	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	M	0.72353	2.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.998	T	0.65100	-0.6250	10	0.87932	D	0	-17.5145	17.9253	0.88982	0.0:1.0:0.0:0.0	.	1224;1071;1224;1224	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	F	1224;1224;1224;1224;1192	ENSP00000333125:L1224F;ENSP00000363215:L1224F;ENSP00000363193:L1224F;ENSP00000414203:L1192F	ENSP00000333125:L1224F	L	+	1	0	MED12	70265983	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.474000	0.53129	2.509000	0.84616	0.529000	0.55759	CTC		0.562	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		3	26	0	0	0	1	0	3	26				
NLRP5	126206	broad.mit.edu	37	19	56515211	56515211	+	Silent	SNP	G	G	C			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr19:56515211G>C	ENST00000390649.3	+	2	192	c.192G>C	c.(190-192)ggG>ggC	p.G64G		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	64	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCAGCTACGGGCTGCAATGGT	0.428																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(190-192)ggG>ggC		NLR family, pyrin domain containing 5							112.0	105.0	107.0					19																	56515211		1872	4114	5986	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56515211G>C	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.192G>C	19.37:g.56515211G>C							p.G64G	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	2	192	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	64			DAPIN.		A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.192G>C	CCDS12938.1																																																																																				0.428	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		17	67	0	0	0	1	0	17	67				
TAAR6	319100	broad.mit.edu	37	6	132891765	132891765	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr6:132891765G>A	ENST00000275198.1	+	1	305	c.305G>A	c.(304-306)aGg>aAg	p.R102K		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	102					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TATTTTGGGAGGAGTTTTTGT	0.493																																						ENST00000275198.1																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41						c.(304-306)aGg>aAg		trace amine associated receptor 6							196.0	179.0	185.0					6																	132891765		2203	4300	6503	SO:0001583	missense	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132891765G>A	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.305G>A	6.37:g.132891765G>A	ENSP00000275198:p.Arg102Lys						p.R102K	NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	305	+	Breast(56;0.112)		102					Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	c.305G>A	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056900	0.36277	.	.	ENSG00000146383	ENST00000275198;ENST00000539228	T	0.71934	-0.61	4.99	-9.98	0.00438	GPCR, rhodopsin-like superfamily (1);	1.432870	0.04732	N	0.421276	T	0.30230	0.0758	N	0.17838	0.53	0.09310	N	1	B	0.09022	0.002	B	0.17979	0.02	T	0.47086	-0.9144	10	0.59425	D	0.04	-0.0407	11.9424	0.52909	0.5103:0.4047:0.085:0.0	.	102	Q96RI8	TAAR6_HUMAN	K	102;85	ENSP00000275198:R102K	ENSP00000275198:R102K	R	+	2	0	TAAR6	132933458	0.000000	0.05858	0.000000	0.03702	0.645000	0.38454	-0.671000	0.05250	-2.884000	0.00318	-0.244000	0.11960	AGG		0.493	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		23	92	0	0	0	1	0	23	92				
NCKAP1	10787	broad.mit.edu	37	2	183847593	183847593	+	Silent	SNP	A	A	G			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr2:183847593A>G	ENST00000361354.4	-	12	1536	c.1164T>C	c.(1162-1164)caT>caC	p.H388H	NCKAP1_ENST00000360982.2_Silent_p.H394H	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	388					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGTTATCTGCATGACGAAGTA	0.313																																						ENST00000360982.2																			0				breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(1180-1182)caT>caC		NCK-associated protein 1							46.0	46.0	46.0					2																	183847593		2203	4300	6503	SO:0001819	synonymous_variant	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183847593A>G	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1164T>C	2.37:g.183847593A>G						NCKAP1_ENST00000361354.3_Silent_p.H388H	p.H394H	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		13	1940	-			388					O60329|Q53QN5|Q53S94|Q53Y35	Silent	SNP	ENST00000361354.4	37	c.1182T>C	CCDS2287.1																																																																																				0.313	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		12	56	0	0	0	1	0	12	56				
C17orf80	55028	broad.mit.edu	37	17	71232290	71232290	+	Silent	SNP	G	G	T			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr17:71232290G>T	ENST00000535032.2	+	2	782	c.669G>T	c.(667-669)gtG>gtT	p.V223V	C17orf80_ENST00000426147.2_Silent_p.V223V|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000268942.8_Silent_p.V223V|C17orf80_ENST00000577615.1_Silent_p.V223V|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000359042.2_Silent_p.V223V|C17orf80_ENST00000255557.4_Silent_p.V223V			Q9BSJ5	CQ080_HUMAN	chromosome 17 open reading frame 80	223						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			TACTAGATGTGCCTACTGGTG	0.388																																						ENST00000359042.2																			0				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14						c.(667-669)gtG>gtT		chromosome 17 open reading frame 80							74.0	79.0	77.0					17																	71232290		2203	4300	6503	SO:0001819	synonymous_variant	55028					integral to membrane		g.chr17:71232290G>T	AY163812	CCDS11694.1, CCDS42377.1, CCDS45767.1, CCDS74145.1	17q25.1	2012-02-24	2012-02-24	2012-02-24	ENSG00000141219	ENSG00000141219			29601	protein-coding gene	gene with protein product	"""sperm-expressed protein 1"", ""migration-inducing protein 3"""					12477932	Standard	NM_017941		Approved	HLC-8, MIG3, FLJ20721, SPEP1	uc002jjl.4	Q9BSJ5		ENST00000535032.2:c.669G>T	17.37:g.71232290G>T						C17orf80_ENST00000268942.8_Silent_p.V223V|C17orf80_ENST00000426147.2_Silent_p.V223V|C17orf80_ENST00000535032.2_Silent_p.V223V|C17orf80_ENST00000582793.1_Intron|C17orf80_ENST00000577615.1_Silent_p.V223V|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000255557.4_Silent_p.V223V	p.V223V	NM_017941.4	NP_060411.2	Q9BSJ5	CQ080_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		3	863	+			223					A8K9X3|Q5JB45|Q6YAU3|Q9H0L9|Q9H5E6|Q9NWN5	Silent	SNP	ENST00000535032.2	37	c.669G>T	CCDS11694.1																																																																																				0.388	C17orf80-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441893.1	NM_017941		9	53	1	0	3.86212e-05	1	4.03004e-05	9	53				
PCDH18	54510	broad.mit.edu	37	4	138452902	138452902	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr4:138452902G>A	ENST00000344876.4	-	1	727	c.341C>T	c.(340-342)cCc>cTc	p.P114L	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.P114L|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	114	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATGCTCTGTGGGTAGAGTGAT	0.408																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(340-342)cCc>cTc		protocadherin 18							128.0	127.0	128.0					4																	138452902		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452902G>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.341C>T	4.37:g.138452902G>A	ENSP00000355082:p.Pro114Leu					PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.P114L|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000511115.1_Intron	p.P114L	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			1	727	-	all_hematologic(180;0.24)		114			Cadherin 1.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.341C>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926154	0.92319	.	.	ENSG00000189184	ENST00000344876;ENST00000412923	T;T	0.36157	1.27;1.27	5.44	5.44	0.79542	Cadherin (3);Cadherin-like (1);	0.000000	0.42964	U	0.000636	T	0.59293	0.2183	L	0.58583	1.82	0.80722	D	1	P;D	0.89917	0.93;1.0	P;D	0.85130	0.64;0.997	T	0.58702	-0.7590	10	0.66056	D	0.02	.	19.454	0.94880	0.0:0.0:1.0:0.0	.	114;114	Q9HCL0-2;Q9HCL0	.;PCD18_HUMAN	L	114	ENSP00000355082:P114L;ENSP00000390688:P114L	ENSP00000355082:P114L	P	-	2	0	PCDH18	138672352	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.595000	0.98260	2.831000	0.97527	0.650000	0.86243	CCC		0.408	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		4	136	0	0	0	1	0	4	136				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72685542	72685542	+	RNA	SNP	G	G	A	rs2539086		TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr7:72685542G>A	ENST00000425256.1	-	0	116									GTF2I repeat domain containing 2 pseudogene 1																		ACGTTACCATGACAAAAGCAG	0.463																																						ENST00000425256.1																			0																																																			0							g.chr7:72685542G>A	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72685542G>A								NR_002164.1						0	116	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.463	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		5	130	0	0	0	1	0	5	130				
SLC38A6	145389	broad.mit.edu	37	14	61503802	61503802	+	Silent	SNP	C	C	T	rs200242212		TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr14:61503802C>T	ENST00000267488.4	+	7	624	c.508C>T	c.(508-510)Cta>Tta	p.L170L	SLC38A6_ENST00000354886.2_Silent_p.L170L|SLC38A6_ENST00000456840.2_Silent_p.L147L	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	170					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TGGACAAACACTACTAATAAT	0.358																																						ENST00000354886.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21						c.(508-510)Cta>Tta		solute carrier family 38, member 6							160.0	152.0	154.0					14																	61503802		2203	4300	6503	SO:0001819	synonymous_variant	145389				amino acid transport|sodium ion transport	integral to membrane		g.chr14:61503802C>T	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.508C>T	14.37:g.61503802C>T						SLC38A6_ENST00000456840.2_Silent_p.L147L|SLC38A6_ENST00000267488.4_Silent_p.L170L	p.L170L	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0981)	7	672	+			170					C9JWA6|Q86SY5	Silent	SNP	ENST00000267488.4	37	c.508C>T	CCDS9751.1																																																																																				0.358	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			6	62	0	0	0	1	0	6	62				
PAX4	5078	broad.mit.edu	37	7	127253123	127253123	+	Missense_Mutation	SNP	G	G	C	rs372751660		TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr7:127253123G>C	ENST00000341640.2	-	6	849	c.644C>G	c.(643-645)gCc>gGc	p.A215G	PAX4_ENST00000338516.3_Missense_Mutation_p.A223G|PAX4_ENST00000378740.2_Missense_Mutation_p.A215G|PAX4_ENST00000463946.1_Missense_Mutation_p.A213G	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	223					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACGCCATTTGGCTCTTCTGTT	0.522																																					Ovarian(113;737 1605 7858 27720 34092)	ENST00000341640.2																			0				cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(643-645)gCc>gGc		paired box 4							223.0	172.0	189.0					7																	127253123		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127253123G>C		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.644C>G	7.37:g.127253123G>C	ENSP00000339906:p.Ala215Gly					PAX4_ENST00000378740.2_Missense_Mutation_p.A215G|PAX4_ENST00000463946.1_Missense_Mutation_p.A213G|PAX4_ENST00000338516.3_Missense_Mutation_p.A223G	p.A215G	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN			6	849	-			223					O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.644C>G	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074077	0.76415	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.97303	-4.33;-4.33;-4.33	4.86	3.05	0.35203	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.087774	0.42682	D	0.000672	D	0.98346	0.9451	M	0.92784	3.345	0.50313	D	0.999861	P;P;P;D	0.71674	0.843;0.896;0.942;0.998	P;B;P;D	0.65874	0.668;0.386;0.861;0.939	D	0.98025	1.0373	10	0.87932	D	0	.	9.3264	0.37995	0.1798:0.0:0.8202:0.0	.	215;213;223;213	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	G	215;223;223;213	ENSP00000339906:A215G;ENSP00000344297:A223G;ENSP00000451923:A213G	ENSP00000344297:A223G	A	-	2	0	PAX4	127040359	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.450000	0.90340	0.582000	0.29556	0.555000	0.69702	GCC		0.522	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			18	44	0	0	0	1	0	18	44				
ZEB2	9839	broad.mit.edu	37	2	145157536	145157536	+	Silent	SNP	T	T	C			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr2:145157536T>C	ENST00000558170.2	-	8	2402	c.1218A>G	c.(1216-1218)acA>acG	p.T406T	ZEB2_ENST00000539609.3_Silent_p.T382T|ZEB2_ENST00000303660.4_Silent_p.T406T|ZEB2_ENST00000409487.3_Silent_p.T406T	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	406					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TAAACCCGTGTGTAGCCATAA	0.433																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(1216-1218)acA>acG		zinc finger E-box binding homeobox 2							83.0	87.0	86.0					2																	145157536		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157536T>C	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1218A>G	2.37:g.145157536T>C						ZEB2_ENST00000409487.3_Silent_p.T406T|ZEB2_ENST00000303660.4_Silent_p.T406T|ZEB2_ENST00000539609.3_Silent_p.T382T	p.T406T	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	2402	-			406					A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.1218A>G	CCDS2186.1																																																																																				0.433	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		5	87	0	0	0	1	0	5	87				
PPP2R3C	55012	broad.mit.edu	37	14	35564292	35564292	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr14:35564292G>C	ENST00000261475.5	-	10	1290	c.937C>G	c.(937-939)Cgt>Ggt	p.R313G		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	313					activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		TGGAAAACACGGTCTAAGAAG	0.413																																						ENST00000261475.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15						c.(937-939)Cgt>Ggt		protein phosphatase 2, regulatory subunit B'', gamma							123.0	110.0	114.0					14																	35564292		2203	4300	6503	SO:0001583	missense	55012					centrosome|nucleus	calcium ion binding	g.chr14:35564292G>C	AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.937C>G	14.37:g.35564292G>C	ENSP00000261475:p.Arg313Gly						p.R313G	NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)	10	1290	-	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		313					B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	ENST00000261475.5	37	c.937C>G	CCDS9654.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124459	0.77436	.	.	ENSG00000092020	ENST00000261475;ENST00000555219	T;T	0.70399	-0.43;-0.48	5.25	5.25	0.73442	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88028	0.6327	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90413	0.4411	10	0.87932	D	0	-3.7963	19.203	0.93719	0.0:0.0:1.0:0.0	.	313	Q969Q6	P2R3C_HUMAN	G	313;34	ENSP00000261475:R313G;ENSP00000452173:R34G	ENSP00000261475:R313G	R	-	1	0	PPP2R3C	34634043	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.525000	0.81892	2.611000	0.88343	0.655000	0.94253	CGT		0.413	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917		8	42	0	0	0	1	0	8	42				
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	byFrequency	TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr16:90161618C>T	ENST00000564451.1	+	0	971				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607													.|||	94	0.01877	0.0469	0.0173	5008	,	,		18765	0.0		0.0169	False		,,,				2504	0.0031					ENST00000564451.1																			2	Substitution - coding silent(2)	p.D118D(2)	kidney(2)																																																0							g.chr16:90161618C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161618C>T						TUBB8P7_ENST00000567960.1_RNA								0	971	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.607	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	28	0	0	0	1	0	4	28				
GPR83	10888	broad.mit.edu	37	11	94113908	94113908	+	Missense_Mutation	SNP	C	C	A			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr11:94113908C>A	ENST00000243673.2	-	4	850	c.679G>T	c.(679-681)Gac>Tac	p.D227Y	GPR83_ENST00000539203.2_Missense_Mutation_p.D185Y	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	227					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCAGGGAAGTCTGGCAGGCAG	0.567																																						ENST00000243673.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(679-681)Gac>Tac		G protein-coupled receptor 83							70.0	69.0	69.0					11																	94113908		2201	4298	6499	SO:0001583	missense	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94113908C>A	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.679G>T	11.37:g.94113908C>A	ENSP00000243673:p.Asp227Tyr					GPR83_ENST00000539203.2_Missense_Mutation_p.D185Y	p.D227Y	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			4	850	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	227					B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.679G>T	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548890	0.65311	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.38077	1.16;1.16	5.41	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.050866	0.85682	D	0.000000	T	0.33352	0.0860	L	0.41415	1.275	0.53005	D	0.999963	B	0.25235	0.121	B	0.29942	0.109	T	0.21518	-1.0243	10	0.59425	D	0.04	.	14.3593	0.66761	0.0:0.8512:0.1488:0.0	.	227	Q9NYM4	GPR83_HUMAN	Y	227;185	ENSP00000243673:D227Y;ENSP00000441550:D185Y	ENSP00000243673:D227Y	D	-	1	0	GPR83	93753556	0.916000	0.31088	1.000000	0.80357	0.996000	0.88848	1.868000	0.39509	2.535000	0.85469	0.655000	0.94253	GAC		0.567	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		12	36	1	0	4.93089e-13	1	5.37915e-13	12	36				
VPS28	51160	broad.mit.edu	37	8	145649503	145649503	+	Silent	SNP	G	G	A			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr8:145649503G>A	ENST00000526054.1	-	8	506	c.469C>T	c.(469-471)Ctg>Ttg	p.L157L	VPS28_ENST00000292510.4_Silent_p.L157L|VPS28_ENST00000529182.1_Silent_p.L157L|VPS28_ENST00000377348.2_Silent_p.L157L|VPS28_ENST00000526734.1_5'Flank			Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	157	VPS28 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00642}.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|negative regulation of protein ubiquitination (GO:0031397)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AGCTCTCGCAGGTCGGGCTGG	0.677																																						ENST00000377348.2																			0				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(469-471)Ctg>Ttg		vacuolar protein sorting 28 homolog (S. cerevisiae)							51.0	55.0	54.0					8																	145649503		2203	4299	6502	SO:0001819	synonymous_variant	51160				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding	g.chr8:145649503G>A	AF316887	CCDS6425.1, CCDS34967.1	8q24.3	2014-08-12	2006-04-04		ENSG00000160948	ENSG00000160948			18178	protein-coding gene	gene with protein product		611952	"""vacuolar protein sorting 28 (yeast)"""				Standard	NM_183057		Approved		uc003zct.1	Q9UK41	OTTHUMG00000165209	ENST00000526054.1:c.469C>T	8.37:g.145649503G>A						VPS28_ENST00000292510.4_Silent_p.L157L|VPS28_ENST00000526054.1_Silent_p.L157L|VPS28_ENST00000529182.1_Silent_p.L157L	p.L157L	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		9	558	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		157			VPS28 C-terminal.		Q86VK0	Silent	SNP	ENST00000526054.1	37	c.469C>T	CCDS6425.1																																																																																				0.677	VPS28-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382694.1			3	54	0	0	0	1	0	3	54				
FAM188B	84182	broad.mit.edu	37	7	30818114	30818114	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr7:30818114A>G	ENST00000265299.6	+	2	207	c.130A>G	c.(130-132)Aga>Gga	p.R44G	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	44										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATAAACAACAGAAATGATCT	0.448																																						ENST00000265299.6																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(130-132)Aga>Gga		family with sequence similarity 188, member B							111.0	110.0	111.0					7																	30818114		1958	4146	6104	SO:0001583	missense	84182							g.chr7:30818114A>G	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.130A>G	7.37:g.30818114A>G	ENSP00000265299:p.Arg44Gly					INMT-FAM188B_ENST00000458257.1_3'UTR	p.R44G	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN			2	207	+			44					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.130A>G	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.666652	0.67814	.	.	ENSG00000106125	ENST00000265299	T	0.31510	1.49	4.43	3.18	0.36537	.	0.000000	0.85682	D	0.000000	T	0.51041	0.1651	M	0.78049	2.395	0.51767	D	0.999939	D	0.89917	1.0	D	0.85130	0.997	T	0.54091	-0.8345	10	0.87932	D	0	-0.3999	7.552	0.27802	0.7815:0.2185:0.0:0.0	.	44	Q4G0A6	F188B_HUMAN	G	44	ENSP00000265299:R44G	ENSP00000265299:R44G	R	+	1	2	FAM188B	30784639	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	3.703000	0.54808	1.998000	0.58463	0.459000	0.35465	AGA		0.448	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		17	61	0	0	0	1	0	17	61				
FAM107B	83641	broad.mit.edu	37	10	14563937	14563938	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr10:14563937_14563938insG	ENST00000378470.1	-	3	495_496	c.209_210insC	c.(208-210)gaafs	p.E70fs	FAM107B_ENST00000378462.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000378467.4_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000378458.2_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000181796.2_Frame_Shift_Ins_p.E245fs|FAM107B_ENST00000479731.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000478076.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000468747.1_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000378465.3_Frame_Shift_Ins_p.E70fs|FAM107B_ENST00000496330.1_Frame_Shift_Ins_p.E70fs	NM_001282695.1|NM_001282696.1|NM_001282697.1|NM_001282698.1|NM_001282700.1|NM_001282701.1|NM_001282702.1|NM_001282703.1	NP_001269624.1|NP_001269625.1|NP_001269626.1|NP_001269627.1|NP_001269629.1|NP_001269630.1|NP_001269631.1|NP_001269632.1	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	70					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTGCTTCTTCTTCCTTCTGCTT	0.426																																						ENST00000181796.2																			0				breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(733-735)ggafs		family with sequence similarity 107, member B																																				SO:0001589	frameshift_variant	83641							g.chr10:14563937_14563938insG	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000378470.1:c.209_210insC	10.37:g.14563937_14563938insG	ENSP00000367731:p.Glu70fs					FAM107B_ENST00000378465.3_Frame_Shift_Ins_p.G70fs|FAM107B_ENST00000378470.1_Frame_Shift_Ins_p.G70fs|FAM107B_ENST00000378467.4_Frame_Shift_Ins_p.G70fs|FAM107B_ENST00000378462.1_Frame_Shift_Ins_p.G70fs|FAM107B_ENST00000468747.1_Frame_Shift_Ins_p.G70fs|FAM107B_ENST00000479731.1_Frame_Shift_Ins_p.G70fs|FAM107B_ENST00000378458.2_Frame_Shift_Ins_p.G70fs|FAM107B_ENST00000478076.1_Frame_Shift_Ins_p.G70fs|FAM107B_ENST00000496330.1_Frame_Shift_Ins_p.G70fs	p.G245fs	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN			4	967_968	-			70					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Frame_Shift_Ins	INS	ENST00000378470.1	37	c.734_735insC																																																																																					0.426	FAM107B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046899.1	NM_031453		25	73						25	73	---	---	---	---
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)ctgdel	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626																																						ENST00000241305.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47						c.(1174-1176)del		carboxypeptidase X (M14 family), member 2																																				SO:0001651	inframe_deletion	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125528165_125528167delCAG	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1174_1176delCTG	10.37:g.125528174_125528176delCAG	ENSP00000241305:p.Leu392del					CPXM2_ENST00000368854.3_5'UTR	p.L392del	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	9	1328_1330	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	392			Poly-Leu.		B4E3Q2	In_Frame_Del	DEL	ENST00000241305.3	37	c.1174_1176delCTG	CCDS7637.1																																																																																				0.626	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		7	174						7	174	---	---	---	---
ABCA10	10349	broad.mit.edu	37	17	67210954	67210959	+	In_Frame_Del	DEL	AAAAAT	AAAAAT	-			TCGA-KC-A7F3-01A-21D-A33T-08	TCGA-KC-A7F3-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcdd04ee-ff3e-4fa3-8115-4c94b0af9170	45a165ad-d560-4ed7-87ac-056436c3d192	g.chr17:67210954_67210959delAAAAAT	ENST00000269081.4	-	10	1801_1806	c.892_897delATTTTT	c.(892-897)atttttdel	p.IF298del	ABCA10_ENST00000432313.2_In_Frame_Del_p.IF298del|ABCA10_ENST00000416101.2_In_Frame_Del_p.IF298del	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	298					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AGGGATCAGGAAAAATAACACCACTT	0.267																																						ENST00000269081.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(892-897)del		ATP-binding cassette, sub-family A (ABC1), member 10																																				SO:0001651	inframe_deletion	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67210954_67210959delAAAAAT	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.892_897delATTTTT	17.37:g.67210954_67210959delAAAAAT	ENSP00000269081:p.Ile298_Phe299del					ABCA10_ENST00000432313.2_In_Frame_Del_p.IF298del|ABCA10_ENST00000416101.2_In_Frame_Del_p.IF298del	p.IF298del	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN			10	1801_1806	-	Breast(10;6.95e-12)		298					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	In_Frame_Del	DEL	ENST00000269081.4	37	c.892_897delATTTTT	CCDS11684.1																																																																																				0.267	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		11	57						11	57	---	---	---	---
