#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
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000342960.5_Silent_p.L384L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		4	84	0	0	0	0.009096	0	4	84				
ZNF512B	57473	broad.mit.edu	37	20	62660829	62660829	+	Intron	SNP	T	T	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr20:62660829T>C	ENST00000450537.1	-	1	56				PRPF6_ENST00000535781.1_Missense_Mutation_p.L804P|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCCCATGTGCTCCTGGCCGTG	0.592																																						ENST00000535781.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2410-2412)cTc>cCc		pre-mRNA processing factor 6							87.0	82.0	84.0					20																	62660829		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62660829T>C	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+19228A>G	20.37:g.62660829T>C						ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron	p.L804P			O94906	PRP6_HUMAN			18	2522	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		844					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.2411T>C	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.292642	0.80914	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.35605	1.3;1.3	5.44	5.44	0.79542	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.99;0.999	T	0.77297	-0.2640	10	0.62326	D	0.03	-24.1535	15.8022	0.78463	0.0:0.0:0.0:1.0	.	804;844	O94906-2;O94906	.;PRP6_HUMAN	P	844;804	ENSP00000266079:L844P;ENSP00000446216:L804P	ENSP00000266079:L844P	L	+	2	0	PRPF6	62131273	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.902000	0.87389	2.202000	0.70862	0.533000	0.62120	CTC		0.592	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		13	58	0	0	0	0.001855	0	13	58				
PIK3R3	8503	broad.mit.edu	37	1	46543232	46543232	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:46543232C>T	ENST00000262741.5	-	3	958	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	PIK3R3_ENST00000540385.1_Missense_Mutation_p.R136Q|PIK3R3_ENST00000420542.1_Missense_Mutation_p.R90Q|PIK3R3_ENST00000423209.1_Missense_Mutation_p.R90Q|PIK3R3_ENST00000372006.1_Missense_Mutation_p.R90Q|PIK3R3_ENST00000340332.6_Missense_Mutation_p.R54Q|PIK3R3_ENST00000354242.4_Missense_Mutation_p.R90Q	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	90	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TGAGGCATCTCGGACCAAGAA	0.393																																						ENST00000262741.5																			0				endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14						c.(268-270)cGa>cAa		phosphoinositide-3-kinase, regulatory subunit 3 (gamma)							130.0	129.0	129.0					1																	46543232		2203	4300	6503	SO:0001583	missense	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46543232C>T	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.269G>A	1.37:g.46543232C>T	ENSP00000262741:p.Arg90Gln					PIK3R3_ENST00000540385.1_Missense_Mutation_p.R136Q|PIK3R3_ENST00000423209.1_Missense_Mutation_p.R90Q|PIK3R3_ENST00000420542.1_Missense_Mutation_p.R90Q|PIK3R3_ENST00000372006.1_Missense_Mutation_p.R90Q|PIK3R3_ENST00000354242.4_Missense_Mutation_p.R90Q|PIK3R3_ENST00000340332.6_Missense_Mutation_p.R54Q	p.R90Q	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN			3	958	-	Acute lymphoblastic leukemia(166;0.155)		90			SH2 1.		B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Missense_Mutation	SNP	ENST00000262741.5	37	c.269G>A	CCDS529.1	.	.	.	.	.	.	.	.	.	.	C	35	5.551435	0.96501	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000354242;ENST00000340332;ENST00000540385;ENST00000423209;ENST00000425892	D;D;D;D;D;D;D;D	0.99287	-5.69;-5.69;-5.69;-5.69;-5.69;-5.69;-5.69;-5.69	4.95	4.95	0.65309	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.99778	0.9908	H	0.99877	4.88	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.995;0.997	D	0.96543	0.9402	10	0.87932	D	0	-9.2351	18.1326	0.89606	0.0:1.0:0.0:0.0	.	136;123;90;90	F6TDL0;Q7Z3W2;Q92569-2;Q92569	.;.;.;P55G_HUMAN	Q	90;90;90;90;54;136;90;90	ENSP00000361075:R90Q;ENSP00000262741:R90Q;ENSP00000412546:R90Q;ENSP00000346188:R90Q;ENSP00000342484:R54Q;ENSP00000439913:R136Q;ENSP00000391431:R90Q;ENSP00000416647:R90Q	ENSP00000262741:R90Q	R	-	2	0	PIK3R3	46315819	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.633000	0.83260	2.467000	0.83353	0.563000	0.77884	CGA		0.393	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		25	97	0	0	0	0.008361	0	25	97				
LOC101927079	101927079	broad.mit.edu	37	15	22332492	22332492	+	RNA	SNP	A	A	C	rs540968052		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr15:22332492A>C	ENST00000558896.1	+	0	299																											TATTTCTCTTATTACTATTTT	0.383																																						ENST00000558896.1																			0																																																			101927079							g.chr15:22332492A>C																													15.37:g.22332492A>C														0	299	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.383	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			3	79	0	0	0	0.004672	0	3	79				
TAF1L	138474	broad.mit.edu	37	9	32631389	32631389	+	Missense_Mutation	SNP	G	G	A	rs528038779		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr9:32631389G>A	ENST00000242310.4	-	1	4278	c.4189C>T	c.(4189-4191)Cgc>Tgc	p.R1397C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1397					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGGTCTGTGCGGCGTCGGTGG	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21409	0.0		0.0	False		,,,				2504	0.0					ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(4189-4191)Cgc>Tgc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							264.0	249.0	254.0					9																	32631389		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631389G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4189C>T	9.37:g.32631389G>A	ENSP00000418379:p.Arg1397Cys						p.R1397C	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4278	-			1397					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.4189C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110883	0.56398	.	.	ENSG00000122728	ENST00000242310	T	0.19532	2.14	0.658	0.658	0.17855	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	M	0.64997	1.995	0.58432	D	0.999998	D	0.71674	0.998	P	0.48677	0.586	T	0.04565	-1.0942	10	0.87932	D	0	.	3.7153	0.08435	0.0:1.0E-4:0.5695:0.4304	.	1397	Q8IZX4	TAF1L_HUMAN	C	1397	ENSP00000418379:R1397C	ENSP00000418379:R1397C	R	-	1	0	TAF1L	32621389	0.996000	0.38824	0.994000	0.49952	0.594000	0.36715	1.633000	0.37113	0.626000	0.30322	0.195000	0.17529	CGC		0.468	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			52	231	0	0	0	0.014410	0	52	231				
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ACTCACTGACATCGAAGGCTG	0.632																																						ENST00000414583.2																			0																																																			29774							g.chr22:24659591A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659591A>G								NR_003714.1						0	3116	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	21	0	0	0	0.009096	0	3	21				
ALG12	79087	broad.mit.edu	37	22	50307071	50307071	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr22:50307071G>A	ENST00000330817.6	-	3	530	c.257C>T	c.(256-258)tCg>tTg	p.S86L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	86					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTAACAGCGAAAGCACGTA	0.552																																						ENST00000330817.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(256-258)tCg>tTg		ALG12, alpha-1,6-mannosyltransferase							93.0	89.0	91.0					22																	50307071		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50307071G>A	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.257C>T	22.37:g.50307071G>A	ENSP00000333813:p.Ser86Leu						p.S86L	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	3	530	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	86					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.257C>T	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995197	0.54147	.	.	ENSG00000182858	ENST00000330817	D	0.87103	-2.21	5.34	5.34	0.76211	.	0.185092	0.48767	D	0.000177	D	0.90758	0.7099	M	0.73430	2.235	0.46376	D	0.999019	P	0.49559	0.925	P	0.51055	0.657	D	0.90249	0.4292	10	0.40728	T	0.16	-0.6291	19.0284	0.92944	0.0:0.0:1.0:0.0	.	86	Q9BV10	ALG12_HUMAN	L	86	ENSP00000333813:S86L	ENSP00000333813:S86L	S	-	2	0	ALG12	48693075	1.000000	0.71417	0.029000	0.17559	0.193000	0.23685	4.415000	0.59809	2.502000	0.84385	0.591000	0.81541	TCG		0.552	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		6	77	0	0	0	0.003080	0	6	77				
SH3RF3	344558	broad.mit.edu	37	2	110053585	110053585	+	Missense_Mutation	SNP	G	G	C	rs373211870		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr2:110053585G>C	ENST00000309415.6	+	7	1811	c.1811G>C	c.(1810-1812)cGg>cCg	p.R604P		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	604							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AGCCAAGCCCGGAGCACCATT	0.642																																						ENST00000309415.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						c.(1810-1812)cGg>cCg		SH3 domain containing ring finger 3							18.0	26.0	24.0					2																	110053585		2056	4194	6250	SO:0001583	missense	344558						zinc ion binding	g.chr2:110053585G>C	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1811G>C	2.37:g.110053585G>C	ENSP00000309186:p.Arg604Pro						p.R604P	NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN			7	1811	+			604					A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37	c.1811G>C		.	.	.	.	.	.	.	.	.	.	G	18.58	3.655451	0.67586	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.60672	0.17;1.94	5.59	5.59	0.84812	.	0.377447	0.28889	N	0.013805	T	0.75488	0.3856	.	.	.	0.46376	D	0.999017	D	0.71674	0.998	D	0.69307	0.963	T	0.74993	-0.3474	9	0.44086	T	0.13	-23.3388	17.766	0.88477	0.0:0.0:1.0:0.0	.	604	Q8TEJ3	SH3R3_HUMAN	P	604	ENSP00000414997:R604P;ENSP00000309186:R604P	ENSP00000309186:R604P	R	+	2	0	SH3RF3	109420017	1.000000	0.71417	0.995000	0.50966	0.638000	0.38207	4.575000	0.60908	2.630000	0.89119	0.650000	0.86243	CGG		0.642	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		7	18	0	0	0	0.001984	0	7	18				
NUMA1	4926	broad.mit.edu	37	11	71725192	71725192	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:71725192G>A	ENST00000393695.3	-	15	3688	c.3357C>T	c.(3355-3357)ggC>ggT	p.G1119G	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.G1119G|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCAGCTTGGGGCCTGTTGGCT	0.602			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(3355-3357)ggC>ggT		nuclear mitotic apparatus protein 1							76.0	82.0	80.0					11																	71725192		2200	4293	6493	SO:0001819	synonymous_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71725192G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3357C>T	11.37:g.71725192G>A						NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.G1119G	p.G1119G	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	3688	-			1119						Silent	SNP	ENST00000393695.3	37	c.3357C>T	CCDS31633.1																																																																																				0.602	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			33	61	0	0	0	0.010818	0	33	61				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	284802							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	95	0	0	0	0.001984	0	4	95				
CHRNB3	1142	broad.mit.edu	37	8	42552689	42552689	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr8:42552689G>A	ENST00000289957.2	+	0	128				CHRNB3_ENST00000531610.1_3'UTR	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	CTGACATCACGATGCTCCCAG	0.393																																						ENST00000289957.2																			0				endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25								cholinergic receptor, nicotinic, beta 3 (neuronal)							122.0	105.0	111.0					8																	42552689		2203	4300	6503			1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42552689G>A	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262		8.37:g.42552689G>A						CHRNB3_ENST00000531610.1_3'UTR		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		0	128	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)						Q15827	Translation_Start_Site	SNP	ENST00000289957.2	37		CCDS6134.1																																																																																				0.393	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			12	61	0	0	0	0.003163	0	12	61				
OR2L2	26246	broad.mit.edu	37	1	248201982	248201982	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:248201982G>C	ENST00000366479.2	+	1	509	c.413G>C	c.(412-414)aGa>aCa	p.R138T	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATAAGCAAAAGAGTGTGTGTG	0.438																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(412-414)aGa>aCa		olfactory receptor, family 2, subfamily L, member 2							186.0	165.0	172.0					1																	248201982		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201982G>C	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.413G>C	1.37:g.248201982G>C	ENSP00000355435:p.Arg138Thr					OR2L13_ENST00000366478.2_Intron	p.R138T	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	509	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		138					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.413G>C	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	4.225	0.040660	0.08196	.	.	ENSG00000203663	ENST00000366479	T	0.41400	1.0	1.9	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.751444	0.10855	U	0.626725	T	0.29524	0.0736	L	0.31578	0.945	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.22695	-1.0209	10	0.49607	T	0.09	.	7.1094	0.25382	0.1509:0.0:0.8491:0.0	.	138	Q8NH16	OR2L2_HUMAN	T	138	ENSP00000355435:R138T	ENSP00000355435:R138T	R	+	2	0	OR2L2	246268605	0.000000	0.05858	0.035000	0.18076	0.049000	0.14656	-0.302000	0.08221	0.897000	0.36392	0.194000	0.17425	AGA		0.438	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		5	143	0	0	0	0.000602	0	5	143				
CDK5RAP1	51654	broad.mit.edu	37	20	31973565	31973565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr20:31973565C>T	ENST00000357886.4	-	7	920	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R256Q|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R256Q|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R256Q|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.R166Q			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	256					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GTCACAGCCTCGCATGATTGA	0.493																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(766-768)cGa>cAa		CDK5 regulatory subunit associated protein 1							92.0	79.0	83.0					20																	31973565		2203	4300	6503	SO:0001583	missense	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31973565C>T	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.767G>A	20.37:g.31973565C>T	ENSP00000350558:p.Arg256Gln					CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R256Q|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.R166Q|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R256Q|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R256Q	p.R256Q			Q96SZ6	CK5P1_HUMAN			7	920	-			256					A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37	c.767G>A		.	.	.	.	.	.	.	.	.	.	C	26.1	4.707672	0.89018	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000544843	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	4.58	4.58	0.56647	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Methylthiotransferase, conserved site (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	M	0.65320	2	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.995;1.0;1.0;1.0;1.0;1.0	T	0.48937	-0.8990	10	0.66056	D	0.02	-7.7991	14.8974	0.70654	0.0:1.0:0.0:0.0	.	256;256;256;256;256;256;166	Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3;Q96SZ6-2	.;.;CK5P1_HUMAN;.;.;.;.	Q	256;256;256;166;256	ENSP00000217372:R256Q;ENSP00000350558:R256Q;ENSP00000341840:R256Q;ENSP00000408133:R166Q;ENSP00000439034:R256Q	ENSP00000341840:R256Q	R	-	2	0	CDK5RAP1	31437226	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.401000	0.79962	2.368000	0.80403	0.462000	0.41574	CGA		0.493	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		10	110	0	0	0	0.008291	0	10	110				
DNMT1	1786	broad.mit.edu	37	19	10251810	10251810	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr19:10251810G>T	ENST00000340748.4	-	30	3552	c.3317C>A	c.(3316-3318)cCt>cAt	p.P1106H	DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000359526.4_Missense_Mutation_p.P1122H|DNMT1_ENST00000540357.1_Missense_Mutation_p.P1106H			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1106					cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TTTGTTTCCAGGGCTACGGGC	0.458																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(3316-3318)cCt>cAt		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						183.0	170.0	174.0					19																	10251810		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10251810G>T	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3317C>A	19.37:g.10251810G>T	ENSP00000345739:p.Pro1106His					DNMT1_ENST00000359526.4_Missense_Mutation_p.P1122H|DNMT1_ENST00000540357.1_Missense_Mutation_p.P1106H|DNMT1_ENST00000589538.1_5'UTR	p.P1106H			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		30	3552	-			1106					A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.3317C>A	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.370269	0.42003	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.23754	1.89;1.9;1.9	5.6	3.33	0.38152	.	0.303141	0.35378	N	0.003242	T	0.17109	0.0411	N	0.22421	0.69	0.34216	D	0.674864	B;B;B	0.10296	0.002;0.003;0.0	B;B;B	0.10450	0.005;0.005;0.002	T	0.14117	-1.0484	10	0.36615	T	0.2	.	11.662	0.51352	0.0:0.1339:0.7271:0.139	.	1106;1122;1106	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	H	1122;1106;1106;974	ENSP00000352516:P1122H;ENSP00000440457:P1106H;ENSP00000345739:P1106H	ENSP00000345739:P1106H	P	-	2	0	DNMT1	10112810	1.000000	0.71417	0.808000	0.32385	0.985000	0.73830	4.660000	0.61511	1.324000	0.45282	0.655000	0.94253	CCT		0.458	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		6	161	1	0	0.000157383	0.003080	0.000247317	6	161				
PIK3R4	30849	broad.mit.edu	37	3	130452855	130452855	+	Silent	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr3:130452855G>C	ENST00000356763.3	-	4	1544	c.987C>G	c.(985-987)gcC>gcG	p.A329A		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	329					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TGGCAAACTGGGCCATGTAGG	0.428																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(985-987)gcC>gcG		phosphoinositide-3-kinase, regulatory subunit 4							93.0	94.0	94.0					3																	130452855		2203	4300	6503	SO:0001819	synonymous_variant	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130452855G>C	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.987C>G	3.37:g.130452855G>C							p.A329A	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			4	1544	-			329					Q2TBF4	Silent	SNP	ENST00000356763.3	37	c.987C>G	CCDS3067.1																																																																																				0.428	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		25	127	0	0	0	0.005443	0	25	127				
CYP4A11	1579	broad.mit.edu	37	1	47399867	47399867	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:47399867C>T	ENST00000310638.4	-	8	1100	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	CYP4A11_ENST00000371904.4_Missense_Mutation_p.D358N|CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000462347.1_Intron|CYP4A11_ENST00000496519.1_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.D357N	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	357					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GAGGCTCCATCACCCAGGAGG	0.622																																						ENST00000310638.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(1069-1071)Gat>Aat		cytochrome P450, family 4, subfamily A, polypeptide 11	NADH(DB00157)						50.0	52.0	51.0					1																	47399867		2203	4300	6503	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47399867C>T	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1069G>A	1.37:g.47399867C>T	ENSP00000311095:p.Asp357Asn					CYP4A11_ENST00000475477.1_Intron|CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.D358N|CYP4A11_ENST00000371905.1_Missense_Mutation_p.D357N	p.D357N	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN			8	1100	-			357					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.1069G>A	CCDS543.1	.	.	.	.	.	.	.	.	.	.	g	15.85	2.955005	0.53293	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.70164	-0.46;-0.46;-0.46	5.23	4.32	0.51571	.	0.103999	0.64402	D	0.000003	T	0.60340	0.2261	L	0.42529	1.33	0.80722	D	1	B	0.20550	0.046	B	0.33690	0.168	T	0.59375	-0.7466	10	0.52906	T	0.07	.	8.3544	0.32321	0.0:0.7247:0.1298:0.1455	.	357	Q02928	CP4AB_HUMAN	N	357;358;357	ENSP00000311095:D357N;ENSP00000360971:D358N;ENSP00000360972:D357N	ENSP00000311095:D357N	D	-	1	0	CYP4A11	47172454	0.096000	0.21769	0.995000	0.50966	0.836000	0.47400	2.865000	0.48412	1.342000	0.45619	0.650000	0.86243	GAT		0.622	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		14	31	0	0	0	0.003163	0	14	31				
RGS2	5997	broad.mit.edu	37	1	192778228	192778228	+	Silent	SNP	T	T	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:192778228T>C	ENST00000235382.5	+	1	58	c.27T>C	c.(25-27)gtT>gtC	p.V9V	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	9					brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			large_intestine(3)|lung(1)|urinary_tract(1)	5						TCTTGGCTGTTCAACACGACT	0.562																																					Pancreas(71;51 2183 4981)	ENST00000235382.5																			0				large_intestine(3)|lung(1)|urinary_tract(1)	5						c.(25-27)gtT>gtC		regulator of G-protein signaling 2, 24kDa							182.0	160.0	167.0					1																	192778228		2203	4300	6503	SO:0001819	synonymous_variant	5997				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192778228T>C	L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"""Regulators of G-protein signaling"", ""Endogenous ligands"""	9998	protein-coding gene	gene with protein product		600861	"""regulator of G-protein signalling 2, 24kD"", ""regulator of G-protein signalling 2, 24kDa"", ""regulator of G-protein signaling 2, 24kDa"""	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.27T>C	1.37:g.192778228T>C						RGS2_ENST00000483295.1_3'UTR	p.V9V	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN			1	58	+			9					Q6I9U5	Silent	SNP	ENST00000235382.5	37	c.27T>C	CCDS1377.1																																																																																				0.562	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086396.1	NM_002923		3	101	0	0	0	0.004672	0	3	101				
PDF	64146	broad.mit.edu	37	16	69363038	69363038	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr16:69363038A>C	ENST00000288022.1	-	2	643	c.619T>G	c.(619-621)Tgg>Ggg	p.W207G	RP11-343C2.12_ENST00000562949.1_Silent_p.G132G|COG8_ENST00000306875.4_3'UTR|COG8_ENST00000564419.1_5'Flank	NM_022341.1	NP_071736.1	Q9HBH1	DEFM_HUMAN	peptide deformylase (mitochondrial)	207					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|positive regulation of cell proliferation (GO:0008284)|translation (GO:0006412)	mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|peptide deformylase activity (GO:0042586)			NS(1)|prostate(1)	2						CGGGCTGCCCACCCGCTCGCC	0.557																																						ENST00000288022.1																			0				NS(1)|prostate(1)	2						c.(619-621)Tgg>Ggg		peptide deformylase (mitochondrial)							54.0	48.0	50.0					16																	69363038		2198	4300	6498	SO:0001583	missense	64146				N-terminal protein amino acid modification|peptidyl-methionine modification|positive regulation of cell proliferation|translation	mitochondrion	iron ion binding|peptide deformylase activity	g.chr16:69363038A>C	AF239156	CCDS10875.1	16q22.1	2008-02-05				ENSG00000258429	3.5.1.88		30012	protein-coding gene	gene with protein product						11060042, 15489958	Standard	NM_022341		Approved		uc002ewx.1	Q9HBH1		ENST00000288022.1:c.619T>G	16.37:g.69363038A>C	ENSP00000288022:p.Trp207Gly					COG8_ENST00000306875.4_3'UTR	p.W207G	NM_022341.1	NP_071736.1	Q9HBH1	DEFM_HUMAN			2	643	-			207					Q8WUN6	Missense_Mutation	SNP	ENST00000288022.1	37	c.619T>G	CCDS10875.1	.	.	.	.	.	.	.	.	.	.	a	22.0	4.226101	0.79576	.	.	ENSG00000258429	ENST00000288022	T	0.47528	0.84	4.95	4.95	0.65309	Peptide deformylase (3);	0.000000	0.64402	U	0.000001	T	0.73814	0.3635	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80547	-0.1334	10	0.87932	D	0	.	14.5724	0.68220	1.0:0.0:0.0:0.0	.	207	Q9HBH1	DEFM_HUMAN	G	207	ENSP00000288022:W207G	ENSP00000288022:W207G	W	-	1	0	PDF	67920539	1.000000	0.71417	0.907000	0.35723	0.660000	0.38997	6.968000	0.76086	1.972000	0.57404	0.454000	0.30748	TGG		0.557	PDF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413022.1	NM_022341		7	60	0	0	0	0.004482	0	7	60				
NPAS4	266743	broad.mit.edu	37	11	66191328	66191328	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:66191328C>T	ENST00000311034.2	+	7	1143	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	323					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGAGCCTCCGCCAGCAGTT	0.552																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(967-969)Cgc>Tgc		neuronal PAS domain protein 4							77.0	80.0	79.0					11																	66191328		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66191328C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.967C>T	11.37:g.66191328C>T	ENSP00000311196:p.Arg323Cys						p.R323C	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			7	1143	+			323					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.967C>T	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880747	0.51801	.	.	ENSG00000174576	ENST00000311034	T	0.51325	0.71	4.71	4.71	0.59529	.	0.000000	0.52532	D	0.000061	T	0.52386	0.1731	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.45160	-0.9280	10	0.35671	T	0.21	-11.155	10.5639	0.45161	0.1925:0.8075:0.0:0.0	.	323	Q8IUM7	NPAS4_HUMAN	C	323	ENSP00000311196:R323C	ENSP00000311196:R323C	R	+	1	0	NPAS4	65947904	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.510000	0.45468	2.607000	0.88179	0.561000	0.74099	CGC		0.552	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		28	101	0	0	0	0.009535	0	28	101				
CDH19	28513	broad.mit.edu	37	18	64172339	64172339	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr18:64172339C>A	ENST00000262150.2	-	12	2321	c.2029G>T	c.(2029-2031)Gag>Tag	p.E677*	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTCCTGATCTCAGCGCTTGTG	0.483																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(2029-2031)Gag>Tag		cadherin 19, type 2							169.0	159.0	162.0					18																	64172339		2203	4300	6503	SO:0001587	stop_gained	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64172339C>A	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.2029G>T	18.37:g.64172339C>A	ENSP00000262150:p.Glu677*					CDH19_ENST00000540086.1_3'UTR	p.E677*	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			12	2321	-		Esophageal squamous(42;0.0132)	677					O15098	Nonsense_Mutation	SNP	ENST00000262150.2	37	c.2029G>T	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	C	35	5.468061	0.96257	.	.	ENSG00000071991	ENST00000262150	.	.	.	5.19	4.31	0.51392	.	0.221132	0.48767	D	0.000169	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.2451	0.73502	0.0:0.7341:0.2659:0.0	.	.	.	.	X	677	.	ENSP00000262150:E677X	E	-	1	0	CDH19	62323319	0.765000	0.28485	0.106000	0.21319	0.079000	0.17450	1.333000	0.33816	1.287000	0.44583	0.655000	0.94253	GAG		0.483	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		47	128	1	0	3.54909e-21	0.011902	6.12392e-21	47	128				
CC2D2A	57545	broad.mit.edu	37	4	15556747	15556747	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr4:15556747G>A	ENST00000503292.1	+	21	2719	c.2539G>A	c.(2539-2541)Gac>Aac	p.D847N	CC2D2A_ENST00000424120.1_Missense_Mutation_p.D847N|CC2D2A_ENST00000389652.5_Missense_Mutation_p.D798N|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D847N	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	847					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AGGACTGACAGACATGAAAAA	0.468																																						ENST00000424120.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(2539-2541)Gac>Aac		coiled-coil and C2 domain containing 2A							92.0	97.0	95.0					4																	15556747		1974	4151	6125	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15556747G>A	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.2539G>A	4.37:g.15556747G>A	ENSP00000421809:p.Asp847Asn					CC2D2A_ENST00000389652.5_Missense_Mutation_p.D798N|CC2D2A_ENST00000503292.1_Missense_Mutation_p.D847N|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D847N	p.D847N			Q9P2K1	C2D2A_HUMAN			20	2793	+			847					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.2539G>A	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778196	0.49786	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.54	5.54	0.83059	.	0.105821	0.64402	D	0.000006	T	0.66025	0.2748	L	0.55834	1.745	0.80722	D	1	P;D	0.54964	0.855;0.969	B;P	0.47470	0.43;0.548	T	0.65384	-0.6181	10	0.38643	T	0.18	.	19.4751	0.94983	0.0:0.0:1.0:0.0	.	847;798	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	N	847;847;798;798;847;798	ENSP00000403465:D847N;ENSP00000398391:D847N;ENSP00000421809:D847N;ENSP00000374303:D798N	ENSP00000374303:D798N	D	+	1	0	CC2D2A	15165845	1.000000	0.71417	0.975000	0.42487	0.311000	0.27955	9.576000	0.98192	2.618000	0.88619	0.655000	0.94253	GAC		0.468	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		12	24	0	0	0	0.010729	0	12	24				
AFF1	4299	broad.mit.edu	37	4	88029324	88029324	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr4:88029324C>G	ENST00000307808.6	+	10	1789	c.1369C>G	c.(1369-1371)Ctt>Gtt	p.L457V	AFF1_ENST00000544085.1_Missense_Mutation_p.L95V|AFF1_ENST00000395146.4_Missense_Mutation_p.L464V	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	457					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCCACAGTCCCTTCCAGAACC	0.478																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(1369-1371)Ctt>Gtt		AF4/FMR2 family, member 1							113.0	100.0	104.0					4																	88029324		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88029324C>G	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1369C>G	4.37:g.88029324C>G	ENSP00000305689:p.Leu457Val					AFF1_ENST00000395146.4_Missense_Mutation_p.L464V|AFF1_ENST00000544085.1_Missense_Mutation_p.L95V	p.L457V	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	10	1789	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	457					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.1369C>G	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	6.394	0.440826	0.12104	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000511722;ENST00000544085;ENST00000514970	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.28	4.43	0.53597	.	0.525534	0.18012	N	0.154504	T	0.52370	0.1730	L	0.41710	1.295	0.19300	N	0.999975	B;B;B	0.34103	0.437;0.437;0.437	B;B;B	0.29862	0.108;0.108;0.108	T	0.38779	-0.9645	10	0.28530	T	0.3	-7.7926	15.7671	0.78135	0.137:0.863:0.0:0.0	.	464;457;457	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	V	464;457;95;95;148	ENSP00000378578:L464V;ENSP00000305689:L457V;ENSP00000424766:L95V;ENSP00000440843:L95V;ENSP00000424881:L148V	ENSP00000305689:L457V	L	+	1	0	AFF1	88248348	0.963000	0.33076	0.652000	0.29579	0.020000	0.10135	2.753000	0.47524	1.329000	0.45376	0.655000	0.94253	CTT		0.478	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		9	78	0	0	0	0.008291	0	9	78				
ALOX15B	247	broad.mit.edu	37	17	7942598	7942598	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr17:7942598G>T	ENST00000380183.4	+	1	264	c.125G>T	c.(124-126)gGc>gTc	p.G42V	ALOX15B_ENST00000380173.2_Missense_Mutation_p.G42V|ALOX15B_ENST00000572022.1_Missense_Mutation_p.G42V|ALOX15B_ENST00000573359.1_Missense_Mutation_p.G42V	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	42	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GACAATCTCGGCAAGGAGTTC	0.652																																						ENST00000380183.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						c.(124-126)gGc>gTc		arachidonate 15-lipoxygenase, type B							53.0	60.0	58.0					17																	7942598		2203	4300	6503	SO:0001583	missense	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7942598G>T	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.125G>T	17.37:g.7942598G>T	ENSP00000369530:p.Gly42Val					ALOX15B_ENST00000573359.1_Missense_Mutation_p.G42V|ALOX15B_ENST00000380173.2_Missense_Mutation_p.G42V|ALOX15B_ENST00000572022.1_Missense_Mutation_p.G42V	p.G42V	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN			1	264	+			42			PLAT.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	c.125G>T	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688213	0.48097	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	T;T	0.65549	-0.16;-0.16	4.28	4.28	0.50868	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.079566	0.49305	D	0.000160	T	0.78117	0.4233	M	0.81497	2.545	0.58432	D	0.999999	D;D;D;D	0.65815	0.995;0.994;0.994;0.995	D;P;P;D	0.64595	0.927;0.88;0.88;0.927	T	0.80585	-0.1317	10	0.46703	T	0.11	-28.4157	15.8407	0.78842	0.0:0.0:1.0:0.0	.	42;42;42;42	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	V	42	ENSP00000369520:G42V;ENSP00000369530:G42V	ENSP00000344337:G42V	G	+	2	0	ALOX15B	7883323	0.998000	0.40836	0.988000	0.46212	0.791000	0.44710	2.806000	0.47947	2.073000	0.62155	0.591000	0.81541	GGC		0.652	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			15	54	1	0	5.3912e-06	0.006122	8.95143e-06	15	54				
IGFBP4	3487	broad.mit.edu	37	17	38610286	38610286	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr17:38610286A>G	ENST00000269593.4	+	3	889	c.614A>G	c.(613-615)gAc>gGc	p.D205G	IGFBP4_ENST00000542955.1_Missense_Mutation_p.D105G	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	205	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCCAACTGCGACCGCAACGGC	0.672																																					GBM(160;940 3581 26177)	ENST00000269593.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						c.(613-615)gAc>gGc		insulin-like growth factor binding protein 4							130.0	122.0	125.0					17																	38610286		2203	4300	6503	SO:0001583	missense	3487				DNA metabolic process|signal transduction|skeletal system development			g.chr17:38610286A>G	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"""IGF-binding protein 4"""	146733	"""insulin-like growth factor-binding protein 4"""			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.614A>G	17.37:g.38610286A>G	ENSP00000269593:p.Asp205Gly					IGFBP4_ENST00000542955.1_Missense_Mutation_p.D105G	p.D205G	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		3	889	+		Breast(137;0.000496)	205			Thyroglobulin type-1.		A0N9W2|B4E351|Q5U012|Q9UCL6	Missense_Mutation	SNP	ENST00000269593.4	37	c.614A>G	CCDS11367.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.976873	0.92982	.	.	ENSG00000141753	ENST00000542955;ENST00000269593	T;T	0.69561	-0.41;-0.41	5.91	5.91	0.95273	Thyroglobulin type-1 (5);	0.000000	0.85682	D	0.000000	D	0.82342	0.5016	M	0.81802	2.56	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.84670	0.0711	10	0.72032	D	0.01	-20.881	14.59	0.68356	1.0:0.0:0.0:0.0	.	205	P22692	IBP4_HUMAN	G	105;205	ENSP00000437734:D105G;ENSP00000269593:D205G	ENSP00000269593:D205G	D	+	2	0	IGFBP4	35863812	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.984000	0.88150	2.254000	0.74563	0.533000	0.62120	GAC		0.672	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257134.1	NM_001552		3	138	0	0	0	0.004672	0	3	138				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	284802							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	95	0	0	0	0.001984	0	4	95				
MYO15A	51168	broad.mit.edu	37	17	18055176	18055176	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr17:18055176G>A	ENST00000205890.5	+	41	8142	c.7804G>A	c.(7804-7806)Gtg>Atg	p.V2602M	MYO15A_ENST00000418233.3_5'Flank|MYO15A_ENST00000585180.1_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2602	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGCGGGAAAGTGTTCATGAA	0.567																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(7804-7806)Gtg>Atg		myosin XVA							40.0	46.0	44.0					17																	18055176		2032	4175	6207	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18055176G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7804G>A	17.37:g.18055176G>A	ENSP00000205890:p.Val2602Met						p.V2602M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			41	8142	+	all_neural(463;0.228)		2602			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.7804G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004251	0.35320	.	.	ENSG00000091536	ENST00000205890	D	0.88818	-2.43	5.24	2.14	0.27477	.	.	.	.	.	D	0.82926	0.5143	L	0.53249	1.67	0.80722	D	1	B	0.20780	0.048	B	0.11329	0.006	T	0.75385	-0.3336	9	0.36615	T	0.2	.	5.4861	0.16751	0.246:0.1466:0.6074:0.0	.	2602	Q9UKN7	MYO15_HUMAN	M	2602	ENSP00000205890:V2602M	ENSP00000205890:V2602M	V	+	1	0	MYO15A	17995901	1.000000	0.71417	0.982000	0.44146	0.839000	0.47603	2.003000	0.40844	0.707000	0.31934	-0.258000	0.10820	GTG		0.567	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		3	13	0	0	0	0.009096	0	3	13				
SEL1L2	80343	broad.mit.edu	37	20	13856747	13856747	+	Silent	SNP	C	C	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr20:13856747C>A	ENST00000284951.5	-	12	1115	c.1041G>T	c.(1039-1041)ggG>ggT	p.G347G	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.G347G			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	347						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CGGCAGCATTCCCCTCTAAAT	0.363																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1039-1041)ggG>ggT		sel-1 suppressor of lin-12-like 2 (C. elegans)							150.0	141.0	144.0					20																	13856747		1875	4100	5975	SO:0001819	synonymous_variant	80343					integral to membrane	binding	g.chr20:13856747C>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1041G>T	20.37:g.13856747C>A						SEL1L2_ENST00000378072.5_Silent_p.G347G|SEL1L2_ENST00000486903.1_5'UTR	p.G347G			Q5TEA6	SE1L2_HUMAN			12	1115	-			347					B4DXX5	Silent	SNP	ENST00000284951.5	37	c.1041G>T																																																																																					0.363	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		9	145	1	0	0.000274275	0.004482	0.000416142	9	145				
MTR	4548	broad.mit.edu	37	1	237037075	237037075	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:237037075T>A	ENST00000366577.5	+	23	2802	c.2408T>A	c.(2407-2409)gTt>gAt	p.V803D	MTR_ENST00000535889.1_Missense_Mutation_p.V752D	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	803	B12-binding. {ECO:0000255|PROSITE- ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TGCCTCAGAGTTATTGATTTA	0.353																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(2407-2409)gTt>gAt		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						147.0	134.0	138.0					1																	237037075		2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237037075T>A	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2408T>A	1.37:g.237037075T>A	ENSP00000355536:p.Val803Asp					MTR_ENST00000535889.1_Missense_Mutation_p.V752D	p.V803D	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	23	2802	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	803			B12-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.2408T>A	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469975	0.84533	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	D;D;D	0.83250	-1.7;-1.7;-1.7	5.32	5.32	0.75619	Cobalamin (vitamin B12)-binding (4);	0.000000	0.85682	D	0.000000	D	0.96371	0.8816	H	0.99993	5.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	D	0.98393	1.0564	10	0.87932	D	0	-28.2411	15.4479	0.75248	0.0:0.0:0.0:1.0	.	803;752;803	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	D	657;803;752;357	ENSP00000355536:V803D;ENSP00000441845:V752D;ENSP00000355535:V357D	ENSP00000355535:V357D	V	+	2	0	MTR	235103698	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.153000	0.77428	2.228000	0.72767	0.533000	0.62120	GTT		0.353	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		6	35	0	0	0	0.001984	0	6	35				
TRAF3	7187	broad.mit.edu	37	14	103363738	103363738	+	Splice_Site	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr14:103363738G>A	ENST00000560371.1	+	9	1177	c.960G>A	c.(958-960)caG>caA	p.Q320Q	TRAF3_ENST00000539721.1_Splice_Site_p.Q237Q|TRAF3_ENST00000347662.4_Splice_Site_p.Q295Q|TRAF3_ENST00000392745.2_Splice_Site_p.Q320Q|TRAF3_ENST00000351691.5_Splice_Site_p.Q295Q	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	320					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TTCATTTACAGGTAAGAATCT	0.403																																						ENST00000560371.1																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30						c.e9+1		TNF receptor-associated factor 3							51.0	48.0	49.0					14																	103363738		2203	4299	6502	SO:0001630	splice_region_variant	7187				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103363738G>A	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.960+1G>A	14.37:g.103363738G>A						TRAF3_ENST00000539721.1_Splice_Site_p.Q237_splice|TRAF3_ENST00000392745.2_Splice_Site_p.Q320_splice|TRAF3_ENST00000351691.5_Splice_Site_p.Q295_splice|TRAF3_ENST00000347662.4_Splice_Site_p.Q295_splice	p.Q320_splice	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	9	1177	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	320					B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Splice_Site	SNP	ENST00000560371.1	37	c.960_splice	CCDS9975.1																																																																																				0.403	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725	Silent	3	16	0	0	0	0.004672	0	3	16				
MROH7	374977	broad.mit.edu	37	1	55139731	55139731	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:55139731C>T	ENST00000421030.2	+	10	2128	c.1843C>T	c.(1843-1845)Ctc>Ttc	p.L615F	MROH7_ENST00000409996.1_Missense_Mutation_p.L183F|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.L615F|MROH7_ENST00000545244.1_Missense_Mutation_p.L183F|MROH7_ENST00000395690.2_Missense_Mutation_p.L615F|MROH7_ENST00000454855.2_Missense_Mutation_p.L133F|MROH7_ENST00000339553.5_Missense_Mutation_p.L615F	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	615						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GCTGGGGAGACTCATCCTTCA	0.488																																						ENST00000414150.2																			0											c.(1843-1845)Ctc>Ttc		maestro heat-like repeat family member 7							124.0	132.0	129.0					1																	55139731		1917	4147	6064	SO:0001583	missense	374977							g.chr1:55139731C>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1843C>T	1.37:g.55139731C>T	ENSP00000396622:p.Leu615Phe					MROH7_ENST00000395690.2_Missense_Mutation_p.L615F|MROH7_ENST00000421030.2_Missense_Mutation_p.L615F|MROH7_ENST00000545244.1_Missense_Mutation_p.L183F|MROH7_ENST00000339553.5_Missense_Mutation_p.L615F|MROH7_ENST00000409996.1_Missense_Mutation_p.L183F|MROH7_ENST00000454855.2_Missense_Mutation_p.L133F	p.L615F							10	2121	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.1843C>T	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335475	0.81801	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71	4.65	4.65	0.58169	.	0.000000	0.43747	D	0.000526	T	0.57330	0.2046	L	0.41632	1.29	0.40972	D	0.984704	D;D;D	0.76494	0.989;0.996;0.999	P;D;D	0.69824	0.858;0.925;0.966	T	0.58120	-0.7692	10	0.44086	T	0.13	-16.1355	13.0837	0.59127	0.0:1.0:0.0:0.0	.	615;615;183	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	F	615;183;644;615;183;133;615	ENSP00000396622:L615F;ENSP00000442333:L183F;ENSP00000343211:L615F;ENSP00000387048:L183F;ENSP00000401130:L133F;ENSP00000379044:L615F	ENSP00000343211:L615F	L	+	1	0	HEATR8	54912319	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.578000	0.53892	2.153000	0.67306	0.558000	0.71614	CTC		0.488	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		23	86	0	0	0	0.003330	0	23	86				
FCN1	2219	broad.mit.edu	37	9	137801845	137801845	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr9:137801845G>A	ENST00000371806.3	-	9	871	c.780C>T	c.(778-780)gaC>gaT	p.D260D		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	260	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CATTGTCTTGGTCTTTGGTGG	0.483																																						ENST00000371806.3																			0				endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(778-780)gaC>gaT		ficolin (collagen/fibrinogen domain containing) 1							219.0	221.0	221.0					9																	137801845		2203	4300	6503	SO:0001819	synonymous_variant	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137801845G>A	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.780C>T	9.37:g.137801845G>A							p.D260D	NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	9	871	-		Myeloproliferative disorder(178;0.0333)	260			Fibrinogen C-terminal.		Q5VYV5|Q92596	Silent	SNP	ENST00000371806.3	37	c.780C>T	CCDS6985.1																																																																																				0.483	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		57	260	0	0	0	0.014410	0	57	260				
DPH5	51611	broad.mit.edu	37	1	101490909	101490909	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:101490909G>A	ENST00000370109.3	-	2	203	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	DPH5_ENST00000370105.3_5'UTR|RP11-421L21.3_ENST00000446527.1_RNA|DPH5_ENST00000488176.1_Silent_p.L31L|DPH5_ENST00000342173.7_Silent_p.L31L|RP11-421L21.3_ENST00000453011.1_RNA	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	31					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TAGGCTTCCAGATACACTCGA	0.507																																						ENST00000370109.3																			0				endometrium(2)|large_intestine(1)|lung(4)	7						c.(91-93)Ctg>Ttg		diphthamide biosynthesis 5							73.0	74.0	73.0					1																	101490909		1942	4158	6100	SO:0001819	synonymous_variant	51611				peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity	g.chr1:101490909G>A	AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.91C>T	1.37:g.101490909G>A						DPH5_ENST00000342173.7_Silent_p.L31L|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000488176.1_Silent_p.L31L	p.L31L	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)	2	203	-		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	31					A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Silent	SNP	ENST00000370109.3	37	c.91C>T	CCDS41358.1																																																																																				0.507	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		4	52	0	0	0	0.009096	0	4	52				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - coding silent(2)	p.V49V(2)	lung(1)|kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(145-147)gtG>gtC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V	p.V49V			P30443	1A01_HUMAN			4	488	+			49			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		4	38	0	0	0	0.000602	0	4	38				
PAOX	196743	broad.mit.edu	37	10	135195045	135195045	+	Silent	SNP	C	C	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr10:135195045C>A	ENST00000278060.5	+	3	833	c.750C>A	c.(748-750)atC>atA	p.I250I	AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Silent_p.I250I|PAOX_ENST00000357296.3_Silent_p.I250I	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	388					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TGAAGACCATCCACTGGAACG	0.572																																						ENST00000278060.5																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23						c.(748-750)atC>atA		polyamine oxidase (exo-N4-amino)							75.0	68.0	70.0					10																	135195045		2202	4300	6502	SO:0001819	synonymous_variant	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135195045C>A	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.750C>A	10.37:g.135195045C>A						PAOX_ENST00000357296.3_Silent_p.I250I|PAOX_ENST00000480071.2_Silent_p.I250I|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR	p.I250I	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	3	833	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	388					D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Silent	SNP	ENST00000278060.5	37	c.750C>A	CCDS7683.1																																																																																				0.572	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		10	53	1	0	2.17888e-05	0.006214	3.4862e-05	10	53				
ESYT2	57488	broad.mit.edu	37	7	158528232	158528232	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr7:158528232C>G	ENST00000251527.5	-	20	2613	c.2548G>C	c.(2548-2550)Ggc>Cgc	p.G850R	ESYT2_ENST00000435514.2_Missense_Mutation_p.G285R	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	878	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						AGGAAGCCGCCACTGTTCTTC	0.458																																						ENST00000251527.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						c.(2548-2550)Ggc>Cgc		extended synaptotagmin-like protein 2							161.0	168.0	166.0					7																	158528232		2203	4300	6503	SO:0001583	missense	57488					integral to membrane|plasma membrane		g.chr7:158528232C>G	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2548G>C	7.37:g.158528232C>G	ENSP00000251527:p.Gly850Arg					ESYT2_ENST00000435514.2_Missense_Mutation_p.G285R	p.G850R	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN			20	2613	-			878			C2 3.		A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	c.2548G>C	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	C	7.785	0.710279	0.15239	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514	T;T;T	0.08193	3.12;3.12;3.12	5.59	5.59	0.84812	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.20659	0.0497	L	0.46614	1.455	0.80722	D	1	D;P	0.89917	1.0;0.606	D;P	0.97110	1.0;0.584	T	0.03212	-1.1060	10	0.06757	T	0.87	-20.2611	18.5774	0.91159	0.0:1.0:0.0:0.0	.	850;878	A0FGR8-2;A0FGR8	.;ESYT2_HUMAN	R	850;899;841;285	ENSP00000251527:G850R;ENSP00000275418:G841R;ENSP00000411488:G285R	ENSP00000251527:G850R	G	-	1	0	ESYT2	158220993	1.000000	0.71417	0.452000	0.26994	0.029000	0.11900	5.614000	0.67695	2.639000	0.89480	0.655000	0.94253	GGC		0.458	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		4	148	0	0	0	0.013537	0	4	148				
KCTD19	146212	broad.mit.edu	37	16	67335719	67335719	+	Silent	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr16:67335719G>C	ENST00000304372.5	-	5	805	c.750C>G	c.(748-750)gcC>gcG	p.A250A	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	250					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ACCACCTTACGGCTTCAGTGA	0.468																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(748-750)gcC>gcG		potassium channel tetramerization domain containing 19							173.0	176.0	175.0					16																	67335719		1910	4122	6032	SO:0001819	synonymous_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67335719G>C	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.750C>G	16.37:g.67335719G>C						KCTD19_ENST00000562860.1_5'UTR	p.A250A	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	5	805	-		Ovarian(137;0.192)	250					B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	37	c.750C>G	CCDS42179.1																																																																																				0.468	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		18	186	0	0	0	0.006122	0	18	186				
TBCEL	219899	broad.mit.edu	37	11	120957788	120957788	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:120957788G>C	ENST00000529397.1	+	8	1358	c.1258G>C	c.(1258-1260)Gaa>Caa	p.E420Q	TBCEL_ENST00000422003.2_Missense_Mutation_p.E420Q	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	420	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		AATTTACGTGGAATCCAAAAC	0.413																																						ENST00000422003.2																		TECTA/TBCEL(2)	0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1258-1260)Gaa>Caa		tubulin folding cofactor E-like							45.0	45.0	45.0					11																	120957788		2203	4298	6501	SO:0001583	missense	219899					cytoplasm|cytoskeleton		g.chr11:120957788G>C	BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.1258G>C	11.37:g.120957788G>C	ENSP00000437184:p.Glu420Gln					TBCEL_ENST00000529397.1_Missense_Mutation_p.E420Q	p.E420Q	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)	8	1446	+		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	420			Ubiquitin-like.		Q0VAN6	Missense_Mutation	SNP	ENST00000529397.1	37	c.1258G>C	CCDS31692.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084757	0.55861	.	.	ENSG00000154114	ENST00000529397;ENST00000422003;ENST00000533169	T;T	0.30981	1.51;1.51	5.69	4.79	0.61399	Ubiquitin supergroup (1);	0.151927	0.64402	D	0.000020	T	0.22704	0.0548	N	0.24115	0.695	0.58432	D	0.999996	B	0.21905	0.062	B	0.20577	0.03	T	0.02781	-1.1111	10	0.30854	T	0.27	-14.3804	14.9436	0.71012	0.0687:0.0:0.9313:0.0	.	420	Q5QJ74	TBCEL_HUMAN	Q	420;420;223	ENSP00000437184:E420Q;ENSP00000403925:E420Q	ENSP00000403925:E420Q	E	+	1	0	TBCEL	120462998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.228000	0.95250	1.404000	0.46819	0.655000	0.94253	GAA		0.413	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1	NM_152715		8	16	0	0	0	0.008291	0	8	16				
ACAD10	80724	broad.mit.edu	37	12	112182675	112182675	+	Missense_Mutation	SNP	C	C	T	rs201684179		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr12:112182675C>T	ENST00000313698.4	+	13	2098	c.1943C>T	c.(1942-1944)tCa>tTa	p.S648L	ACAD10_ENST00000455480.2_Missense_Mutation_p.S679L|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.S250L|ACAD10_ENST00000549590.1_Missense_Mutation_p.S648L	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	648						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GCTCATACCTCAAGGGGAGGT	0.582																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(2035-2037)tCa>tTa		acyl-CoA dehydrogenase family, member 10							77.0	71.0	73.0					12																	112182675		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112182675C>T	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1943C>T	12.37:g.112182675C>T	ENSP00000325137:p.Ser648Leu					ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.S648L|ACAD10_ENST00000392636.2_Missense_Mutation_p.S250L|ACAD10_ENST00000549590.1_Missense_Mutation_p.S648L	p.S679L	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			14	2213	+			648					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.2036C>T	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826016	0.50739	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000515283;ENST00000313698;ENST00000507683	D;T;D;D	0.96334	-3.98;3.24;-3.59;-3.6	4.65	4.65	0.58169	Acyl-CoA dehydrogenase/oxidase (1);	0.816114	0.10846	N	0.627700	D	0.94840	0.8333	M	0.62723	1.935	0.09310	N	1	B;B;P	0.34724	0.015;0.105;0.465	B;B;B	0.31101	0.015;0.036;0.124	D	0.89089	0.3481	10	0.33940	T	0.23	.	16.4253	0.83813	0.0:1.0:0.0:0.0	.	679;648;648	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	L	250;648;648;679;41;648;229	ENSP00000376411:S250L;ENSP00000446959:S648L;ENSP00000389813:S679L;ENSP00000325137:S648L	ENSP00000325137:S648L	S	+	2	0	ACAD10	110667058	0.077000	0.21312	0.010000	0.14722	0.024000	0.10985	4.760000	0.62235	2.413000	0.81919	0.655000	0.94253	TCA		0.582	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		4	58	0	0	0	0.000602	0	4	58				
NEDD4	4734	broad.mit.edu	37	15	56130006	56130006	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr15:56130006T>G	ENST00000508342.1	-	20	3799	c.3500A>C	c.(3499-3501)cAa>cCa	p.Q1167P	NEDD4_ENST00000338963.2_Missense_Mutation_p.Q1095P|NEDD4_ENST00000435532.3_Missense_Mutation_p.Q748P|NEDD4_ENST00000506154.1_Missense_Mutation_p.Q1151P	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1167	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AGCAGCCATTTGCTTCTGGAT	0.328																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(3499-3501)cAa>cCa		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							91.0	85.0	87.0					15																	56130006		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56130006T>G	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3500A>C	15.37:g.56130006T>G	ENSP00000424827:p.Gln1167Pro					NEDD4_ENST00000506154.1_Missense_Mutation_p.Q1151P|NEDD4_ENST00000435532.3_Missense_Mutation_p.Q748P|NEDD4_ENST00000338963.2_Missense_Mutation_p.Q1095P	p.Q1167P			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	20	3799	-			1167			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.3500A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.5|22.5	4.293996|4.293996	0.81025|0.81025	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	.|T;T;T;T	.|0.52295	.|0.67;0.67;0.67;0.67	5.8|5.8	5.8|5.8	0.92144|0.92144	.|HECT (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73087|0.73087	0.3542|0.3542	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.998	T|T	0.78518|0.78518	-0.2173|-0.2173	5|10	.|0.87932	.|D	.|0	.|.	15.3317|15.3317	0.74219|0.74219	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1151;748;1167;1095	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	Q|P	758|1167;748;1095;1151	.|ENSP00000424827:Q1167P;ENSP00000410613:Q748P;ENSP00000345530:Q1095P;ENSP00000422705:Q1151P	.|ENSP00000345530:Q1095P	K|Q	-|-	1|2	0|0	NEDD4|NEDD4	53917298|53917298	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.078000|6.078000	0.71282|0.71282	2.206000|2.206000	0.71126|0.71126	0.528000|0.528000	0.53228|0.53228	AAA|CAA		0.328	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		4	19	0	0	0	0.000602	0	4	19				
SLC15A1	6564	broad.mit.edu	37	13	99340612	99340612	+	Splice_Site	SNP	T	T	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr13:99340612T>C	ENST00000376503.5	-	20	1630		c.e20-2			NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1						digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AAGCCTTTTCTATCAAAATAA	0.303																																						ENST00000376503.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.e20-2		solute carrier family 15 (oligopeptide transporter), member 1	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						56.0	58.0	57.0					13																	99340612		2203	4300	6503	SO:0001630	splice_region_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99340612T>C	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1575-2A>G	13.37:g.99340612T>C								NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN			20	1630	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)							Q5VW82	Splice_Site	SNP	ENST00000376503.5	37		CCDS9489.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.554934	0.45487	.	.	ENSG00000088386	ENST00000376503	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.716	0.57115	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC15A1	98138613	0.517000	0.26226	0.951000	0.38953	0.113000	0.19764	3.005000	0.49521	2.054000	0.61138	0.533000	0.62120	.		0.303	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073	Intron	3	57	0	0	0	0.004672	0	3	57				
SEPT1	1731	broad.mit.edu	37	16	30387481	30387481	+	IGR	SNP	G	G	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr16:30387481G>T	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Missense_Mutation_p.D38Y			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CACTGTGATCGACCAGAACCG	0.607																																						ENST00000322861.7																			0				large_intestine(2)|lung(4)	6						c.(112-114)Gac>Tac		myosin light chain, phosphorylatable, fast skeletal muscle							58.0	55.0	56.0					16																	30387481		2197	4300	6497	SO:0001628	intergenic_variant	29895				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr16:30387481G>T	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30387481G>T							p.D38Y	NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	Colorectal(24;0.193)		3	193	+			38			EF-hand 1.		B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37	c.112G>T		.	.	.	.	.	.	.	.	.	.	G	20.6	4.023909	0.75390	.	.	ENSG00000180209	ENST00000322861	D	0.90004	-2.6	4.95	4.95	0.65309	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.97448	0.9165	H	0.99870	4.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99537	1.0962	10	0.87932	D	0	.	17.3941	0.87440	0.0:0.0:1.0:0.0	.	38	Q96A32	MLRS_HUMAN	Y	38	ENSP00000325239:D38Y	ENSP00000325239:D38Y	D	+	1	0	MYLPF	30294982	1.000000	0.71417	0.952000	0.39060	0.788000	0.44548	9.090000	0.94144	2.481000	0.83766	0.460000	0.39030	GAC		0.607	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		9	45	1	0	2.52707e-12	0.006214	4.27658e-12	9	45				
TXNIP	10628	broad.mit.edu	37	1	145438932	145438932	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:145438932G>A	ENST00000369317.4	+	1	464	c.130G>A	c.(130-132)Gtt>Att	p.V44I	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	44					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTCAAAGCCGTTAGGATCCT	0.542																																						ENST00000369317.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(130-132)Gtt>Att		thioredoxin interacting protein							157.0	140.0	146.0					1																	145438932		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145438932G>A	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.130G>A	1.37:g.145438932G>A	ENSP00000358323:p.Val44Ile					TXNIP_ENST00000475171.1_Intron	p.V44I	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN			1	464	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		44					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.130G>A	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787419	0.70337	.	.	ENSG00000117289	ENST00000369317	T	0.15372	2.43	5.74	4.81	0.61882	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.125660	0.53938	D	0.000059	T	0.03608	0.0103	N	0.25144	0.715	0.51012	D	0.9999	B	0.14805	0.011	B	0.13407	0.009	T	0.17258	-1.0375	10	0.02654	T	1	-3.9557	14.3604	0.66768	0.0:0.1493:0.8507:0.0	.	44	Q9H3M7	TXNIP_HUMAN	I	44	ENSP00000358323:V44I	ENSP00000358323:V44I	V	+	1	0	TXNIP	144150289	0.999000	0.42202	0.997000	0.53966	0.930000	0.56654	2.089000	0.41672	1.399000	0.46721	0.655000	0.94253	GTT		0.542	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		24	58	0	0	0	0.004656	0	24	58				
MTR	4548	broad.mit.edu	37	1	237037074	237037074	+	Splice_Site	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:237037074G>A	ENST00000366577.5	+	23	2801	c.2407G>A	c.(2407-2409)Gtt>Att	p.V803I	MTR_ENST00000535889.1_Splice_Site_p.V752I	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	803	B12-binding. {ECO:0000255|PROSITE- ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GTGCCTCAGAGTTATTGATTT	0.353																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.e23-1		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						146.0	133.0	137.0					1																	237037074		2203	4300	6503	SO:0001630	splice_region_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237037074G>A	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2406-1G>A	1.37:g.237037074G>A						MTR_ENST00000535889.1_Splice_Site_p.V752_splice	p.V803_splice	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	23	2801	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	803			B12-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Splice_Site	SNP	ENST00000366577.5	37	c.2405_splice	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771842	0.69992	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	D;D;D	0.81739	-1.53;-1.53;-1.53	5.32	5.32	0.75619	Cobalamin (vitamin B12)-binding (4);	0.000000	0.85682	D	0.000000	T	0.81678	0.4873	L	0.46157	1.445	0.51233	D	0.999914	P;P;P	0.49696	0.927;0.848;0.927	P;P;P	0.54924	0.764;0.665;0.764	T	0.75563	-0.3274	10	0.02654	T	1	-28.2411	19.1899	0.93660	0.0:0.0:1.0:0.0	.	803;752;803	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	I	657;803;752;357	ENSP00000355536:V803I;ENSP00000441845:V752I;ENSP00000355535:V357I	ENSP00000355535:V357I	V	+	1	0	MTR	235103697	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.792000	0.91856	2.760000	0.94817	0.655000	0.94253	GTT		0.353	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254	Missense_Mutation	6	35	0	0	0	0.001984	0	6	35				
HECW1	23072	broad.mit.edu	37	7	43484116	43484116	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr7:43484116A>C	ENST00000395891.2	+	11	1950	c.1345A>C	c.(1345-1347)Atc>Ctc	p.I449L	HECW1_ENST00000453890.1_Missense_Mutation_p.I449L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	449					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCAAAAGGACATCCAGCCTGC	0.642																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(1345-1347)Atc>Ctc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							17.0	21.0	20.0					7																	43484116		2104	4231	6335	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484116A>C	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1345A>C	7.37:g.43484116A>C	ENSP00000379228:p.Ile449Leu					HECW1_ENST00000453890.1_Missense_Mutation_p.I449L	p.I449L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	1950	+			449					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.1345A>C	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	A	14.11	2.436769	0.43224	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.28069	1.63;1.66	4.88	-6.83	0.01693	.	5.053600	0.00166	N	0.000000	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12451	-1.0547	10	0.25106	T	0.35	.	4.5069	0.11893	0.2005:0.4113:0.2975:0.0906	.	449;449	B4DH42;Q76N89	.;HECW1_HUMAN	L	449	ENSP00000379228:I449L;ENSP00000407774:I449L	ENSP00000265522:I449L	I	+	1	0	HECW1	43450641	0.000000	0.05858	0.000000	0.03702	0.545000	0.35147	-0.250000	0.08830	-1.142000	0.02869	0.482000	0.46254	ATC		0.642	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		3	20	0	0	0	0.004672	0	3	20				
ZNF180	7733	broad.mit.edu	37	19	44981990	44981990	+	Silent	SNP	A	A	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr19:44981990A>G	ENST00000221327.4	-	5	989	c.708T>C	c.(706-708)caT>caC	p.H236H	ZNF180_ENST00000391956.4_Silent_p.H211H|ZNF180_ENST00000592529.1_Silent_p.H209H|ZNF180_ENST00000585514.1_5'Flank|AC069278.4_ENST00000591684.1_lincRNA	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TAATCTTCTGATGACTGTTTA	0.343																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(706-708)caT>caC		zinc finger protein 180							84.0	85.0	85.0					19																	44981990		2203	4300	6503	SO:0001819	synonymous_variant	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981990A>G	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.708T>C	19.37:g.44981990A>G						ZNF180_ENST00000391956.4_Silent_p.H211H|ZNF180_ENST00000592529.1_Silent_p.H209H	p.H236H	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN			5	989	-		Prostate(69;0.0435)	236					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Silent	SNP	ENST00000221327.4	37	c.708T>C	CCDS12639.1																																																																																				0.343	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		9	67	0	0	0	0.004482	0	9	67				
GFRA1	2674	broad.mit.edu	37	10	117884861	117884861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr10:117884861C>T	ENST00000355422.6	-	6	1191	c.641G>A	c.(640-642)tGc>tAc	p.C214Y	GFRA1_ENST00000439649.3_Missense_Mutation_p.C209Y|GFRA1_ENST00000544592.1_Missense_Mutation_p.C93Y|GFRA1_ENST00000369236.1_Missense_Mutation_p.C209Y	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	214					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CCGGCAGGAGCAGAAGAGCAT	0.587																																					Ovarian(128;329 1725 45498 46808 50759)	ENST00000439649.3																			0				endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26						c.(625-627)tGc>tAc		GDNF family receptor alpha 1							86.0	73.0	77.0					10																	117884861		2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117884861C>T	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.641G>A	10.37:g.117884861C>T	ENSP00000347591:p.Cys214Tyr					GFRA1_ENST00000544592.1_Missense_Mutation_p.C93Y|GFRA1_ENST00000369236.1_Missense_Mutation_p.C209Y|GFRA1_ENST00000355422.6_Missense_Mutation_p.C214Y	p.C209Y	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	5	993	-		Lung NSC(174;0.21)	214					A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.626G>A	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070520	0.93950	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	D;D	0.89939	-2.59;-2.59	5.85	5.85	0.93711	GDNF/GAS1 (2);	0.094022	0.85682	D	0.000000	D	0.95711	0.8605	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.95743	0.8785	10	0.87932	D	0	-12.4249	20.1775	0.98187	0.0:1.0:0.0:0.0	.	214;209	P56159;P56159-2	GFRA1_HUMAN;.	Y	214;209;209;93;209	ENSP00000358239:C209Y;ENSP00000442179:C93Y	ENSP00000347591:C209Y	C	-	2	0	GFRA1	117874851	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.771000	0.95319	0.561000	0.74099	TGC		0.587	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		9	43	0	0	0	0.006214	0	9	43				
SLC9A9	285195	broad.mit.edu	37	3	142985669	142985669	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr3:142985669G>A	ENST00000316549.6	-	16	2021	c.1813C>T	c.(1813-1815)Cta>Tta	p.L605L		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	605					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCCAGACCTAGCCTTGCAGGA	0.507																																						ENST00000316549.6																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(1813-1815)Cta>Tta		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							175.0	161.0	166.0					3																	142985669		2203	4300	6503	SO:0001819	synonymous_variant	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:142985669G>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1813C>T	3.37:g.142985669G>A							p.L605L	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN			16	2021	-			605					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Silent	SNP	ENST00000316549.6	37	c.1813C>T	CCDS33872.1																																																																																				0.507	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		34	80	0	0	0	0.004289	0	34	80				
GEMIN5	25929	broad.mit.edu	37	5	154296703	154296703	+	Silent	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr5:154296703C>T	ENST00000285873.7	-	13	1785	c.1710G>A	c.(1708-1710)ctG>ctA	p.L570L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	570					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAGTACAGATCAGTTTCAGGT	0.393																																						ENST00000285873.7																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(1708-1710)ctG>ctA		gem (nuclear organelle) associated protein 5							125.0	127.0	126.0					5																	154296703		2203	4300	6503	SO:0001819	synonymous_variant	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154296703C>T	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.1710G>A	5.37:g.154296703C>T							p.L570L	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		13	1785	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	570					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	37	c.1710G>A	CCDS4330.1																																																																																				0.393	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			12	142	0	0	0	0.010729	0	12	142				
MED12	9968	broad.mit.edu	37	X	70339729	70339729	+	Splice_Site	SNP	T	T	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chrX:70339729T>G	ENST00000374080.3	+	3	428		c.e3+2		MED12_ENST00000374102.1_Splice_Site|MED12_ENST00000333646.6_Splice_Site			Q93074	MED12_HUMAN	mediator complex subunit 12						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)			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)					GCCAAAAAGGTAAGGTACTGT	0.512			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				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.e3+2		mediator complex subunit 12							36.0	35.0	35.0					X																	70339729		1991	4156	6147	SO:0001630	splice_region_variant	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:70339729T>G	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.396+2T>G	X.37:g.70339729T>G						MED12_ENST00000374102.1_Splice_Site|MED12_ENST00000374080.3_Splice_Site		NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			3	595	+	Renal(35;0.156)							O15410|O75557|Q9UHV6|Q9UND7	Splice_Site	SNP	ENST00000374080.3	37		CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	18.25	3.583493	0.65992	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000429213;ENST00000430072	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1907	0.73041	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MED12	70256454	1.000000	0.71417	0.990000	0.47175	0.807000	0.45602	7.774000	0.85478	2.038000	0.60285	0.486000	0.48141	.		0.512	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	Intron	4	8	0	0	0	0.009096	0	4	8				
TERF1	7013	broad.mit.edu	37	8	73921394	73921394	+	Silent	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr8:73921394C>T	ENST00000276603.5	+	1	296	c.273C>T	c.(271-273)cgC>cgT	p.R91R	TERF1_ENST00000276602.6_Silent_p.R91R	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	91	TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GAGCTTTCCGCGACGGCCGCT	0.716																																						ENST00000276602.6																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(271-273)cgC>cgT		telomeric repeat binding factor (NIMA-interacting) 1							13.0	16.0	15.0					8																	73921394		1965	3891	5856	SO:0001819	synonymous_variant	7013				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding	g.chr8:73921394C>T	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.273C>T	8.37:g.73921394C>T						TERF1_ENST00000276603.5_Silent_p.R91R	p.R91R	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	Epithelial(68;0.0984)		1	296	+	Breast(64;0.218)		91			TRFH dimerization.		A7XP29|Q15553|Q8NHT6|Q93029	Silent	SNP	ENST00000276603.5	37	c.273C>T	CCDS6211.1																																																																																				0.716	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489		13	39	0	0	0	0.001855	0	13	39				
LAMC2	3918	broad.mit.edu	37	1	183195980	183195980	+	Missense_Mutation	SNP	C	C	G	rs201614830		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:183195980C>G	ENST00000264144.4	+	9	1279	c.1214C>G	c.(1213-1215)gCg>gGg	p.A405G	LAMC2_ENST00000493293.1_Missense_Mutation_p.A405G	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	405	Laminin EGF-like 4; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGAGATTCAGCGAGACTGGGG	0.542																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(1213-1215)gCg>gGg		laminin, gamma 2							181.0	192.0	188.0					1																	183195980		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183195980C>G	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.1214C>G	1.37:g.183195980C>G	ENSP00000264144:p.Ala405Gly					LAMC2_ENST00000493293.1_Missense_Mutation_p.A405G	p.A405G	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			9	1279	+			405			Laminin EGF-like 4; second part.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.1214C>G	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628121	0.66901	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.63417	-0.04;-0.04	5.39	5.39	0.77823	EGF-like, laminin (2);	0.167505	0.40640	N	0.001046	T	0.55705	0.1937	N	0.11724	0.165	0.43342	D	0.995398	P;P;P	0.47350	0.894;0.894;0.841	P;P;P	0.53224	0.721;0.721;0.519	T	0.57289	-0.7837	10	0.37606	T	0.19	.	13.4536	0.61184	0.0:0.9246:0.0:0.0753	.	405;405;405	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	G	405	ENSP00000432063:A405G;ENSP00000264144:A405G	ENSP00000264144:A405G	A	+	2	0	LAMC2	181462603	0.991000	0.36638	0.332000	0.25469	0.475000	0.33008	5.445000	0.66594	2.512000	0.84698	0.549000	0.68633	GCG		0.542	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		16	250	0	0	0	0.006122	0	16	250				
LRP2	4036	broad.mit.edu	37	2	170099522	170099522	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr2:170099522G>A	ENST00000263816.3	-	24	3896	c.3611C>T	c.(3610-3612)aCa>aTa	p.T1204I	LRP2_ENST00000443831.1_Missense_Mutation_p.T1067I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1204	LDL-receptor class A 12. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACAACGATTTGTGACGCCAAT	0.403																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(3610-3612)aCa>aTa		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						147.0	139.0	142.0					2																	170099522		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170099522G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3611C>T	2.37:g.170099522G>A	ENSP00000263816:p.Thr1204Ile					LRP2_ENST00000443831.1_Missense_Mutation_p.T1067I	p.T1204I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	24	3896	-			1204			LDL-receptor class A 12.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.3611C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	1.422	-0.572509	0.03882	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.95518	-3.73;-3.73	5.76	-2.68	0.06041	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	1.308390	0.04457	N	0.373751	D	0.89787	0.6816	L	0.31926	0.97	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.11329	0.006;0.003	T	0.76822	-0.2817	10	0.27785	T	0.31	.	2.5079	0.04649	0.2415:0.3269:0.3121:0.1195	.	1067;1204	E9PC35;P98164	.;LRP2_HUMAN	I	1204;1067	ENSP00000263816:T1204I;ENSP00000409813:T1067I	ENSP00000263816:T1204I	T	-	2	0	LRP2	169807768	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.163000	0.16520	-0.752000	0.04728	-0.793000	0.03317	ACA		0.403	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		36	74	0	0	0	0.004878	0	36	74				
POMT1	10585	broad.mit.edu	37	9	134386815	134386815	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr9:134386815C>G	ENST00000372228.3	+	10	1192	c.1013C>G	c.(1012-1014)cCc>cGc	p.P338R	POMT1_ENST00000541219.1_Missense_Mutation_p.P94R|POMT1_ENST00000419118.2_Missense_Mutation_p.P164R|POMT1_ENST00000423007.1_Missense_Mutation_p.P316R|POMT1_ENST00000341012.7_Missense_Mutation_p.P262R|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000402686.3_Missense_Mutation_p.P316R|POMT1_ENST00000354713.4_Missense_Mutation_p.P286R|POMT1_ENST00000404875.2_Missense_Mutation_p.P199R	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	338	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AAACCTGTGCCCTGCTGGCTT	0.498																																						ENST00000423007.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31						c.(946-948)cCc>cGc		protein-O-mannosyltransferase 1							128.0	109.0	115.0					9																	134386815		2203	4300	6503	SO:0001583	missense	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134386815C>G	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.1013C>G	9.37:g.134386815C>G	ENSP00000361302:p.Pro338Arg					POMT1_ENST00000354713.4_Missense_Mutation_p.P286R|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000402686.3_Missense_Mutation_p.P316R|POMT1_ENST00000541219.1_Missense_Mutation_p.P94R|POMT1_ENST00000404875.2_Missense_Mutation_p.P199R|POMT1_ENST00000341012.7_Missense_Mutation_p.P262R|POMT1_ENST00000419118.2_Missense_Mutation_p.P164R|POMT1_ENST00000372228.3_Missense_Mutation_p.P338R	p.P316R	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	10	1389	+		Myeloproliferative disorder(178;0.204)	338					B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	c.947C>G	CCDS6943.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598375	0.66332	.	.	ENSG00000130714	ENST00000423007;ENST00000404875;ENST00000341012;ENST00000441334;ENST00000372228;ENST00000402686;ENST00000419118;ENST00000541219;ENST00000354713	D;D;D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.37	5.37	0.77165	MIR motif (2);MIR (1);	0.052758	0.85682	D	0.000000	D	0.85877	0.5799	L	0.45470	1.425	0.58432	D	0.999999	B;P;P;D;P	0.61697	0.274;0.737;0.555;0.99;0.829	B;B;B;P;P	0.59357	0.157;0.374;0.374;0.856;0.578	D	0.85756	0.1346	10	0.48119	T	0.1	-16.5555	13.5538	0.61747	0.1563:0.8437:0.0:0.0	.	41;286;94;338;316	B4DU61;B4DTW4;B4DI80;Q9Y6A1;Q9Y6A1-2	.;.;.;POMT1_HUMAN;.	R	316;199;262;221;338;316;164;94;286	ENSP00000404119:P316R;ENSP00000384531:P199R;ENSP00000343034:P262R;ENSP00000395060:P221R;ENSP00000361302:P338R;ENSP00000385797:P316R;ENSP00000403032:P164R;ENSP00000440895:P94R;ENSP00000346748:P286R	ENSP00000343034:P262R	P	+	2	0	POMT1	133376636	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	5.510000	0.67018	2.505000	0.84491	0.563000	0.77884	CCC		0.498	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		28	92	0	0	0	0.006320	0	28	92				
GDI1	2664	broad.mit.edu	37	X	153667402	153667402	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chrX:153667402T>G	ENST00000447750.2	+	4	639	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	102					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTACCTGGACTTCAAGGTGGT	0.577																																						ENST00000447750.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(304-306)Ttc>Gtc		GDP dissociation inhibitor 1							112.0	98.0	102.0					X																	153667402		2203	4300	6503	SO:0001583	missense	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153667402T>G	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.304T>G	X.37:g.153667402T>G	ENSP00000394071:p.Phe102Val						p.F102V	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN			4	639	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		102					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	ENST00000447750.2	37	c.304T>G	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.047813	0.93740	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	D	0.90563	-2.69	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.96275	0.8785	H	0.94808	3.585	0.80722	D	1	D;D	0.71674	0.993;0.998	D;D	0.78314	0.977;0.991	D	0.96869	0.9638	10	0.87932	D	0	-4.7387	11.7787	0.52001	0.0:0.0:0.0:1.0	.	102;102	B4DH24;P31150	.;GDIA_HUMAN	V	102	ENSP00000394071:F102V	ENSP00000358756:F102V	F	+	1	0	GDI1	153320596	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.032000	0.88838	1.681000	0.50988	0.407000	0.27541	TTC		0.577	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		24	31	0	0	0	0.002780	0	24	31				
LRFN4	78999	broad.mit.edu	37	11	66627262	66627262	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:66627262G>T	ENST00000309602.4	+	2	1747	c.1504G>T	c.(1504-1506)Gcc>Tcc	p.A502S	PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	502	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CACGCTGCCGGCCTCGCCCCT	0.692																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(1504-1506)Gcc>Tcc		leucine rich repeat and fibronectin type III domain containing 4							30.0	24.0	26.0					11																	66627262		2190	4286	6476	SO:0001583	missense	78999					integral to membrane		g.chr11:66627262G>T	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1504G>T	11.37:g.66627262G>T	ENSP00000312535:p.Ala502Ser					PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron	p.A502S	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			2	1747	+			502					Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	c.1504G>T	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061867	0.36373	.	.	ENSG00000173621	ENST00000309602	T	0.46451	0.87	4.47	4.47	0.54385	.	0.158715	0.29646	N	0.011578	T	0.24547	0.0595	N	0.24115	0.695	0.80722	D	1	B	0.30439	0.279	B	0.30943	0.122	T	0.05500	-1.0881	10	0.10111	T	0.7	.	8.4782	0.33027	0.1079:0.0:0.8921:0.0	.	502	Q6PJG9	LRFN4_HUMAN	S	502	ENSP00000312535:A502S	ENSP00000312535:A502S	A	+	1	0	LRFN4	66383838	0.089000	0.21612	0.359000	0.25824	0.471000	0.32888	2.729000	0.47327	2.062000	0.61559	0.462000	0.41574	GCC		0.692	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		4	11	1	0	0.00024832	0.009096	0.000383371	4	11				
ZNF512B	57473	broad.mit.edu	37	20	62660829	62660829	+	Intron	SNP	T	T	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr20:62660829T>C	ENST00000450537.1	-	1	56				PRPF6_ENST00000535781.1_Missense_Mutation_p.L804P|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCCCATGTGCTCCTGGCCGTG	0.592																																						ENST00000535781.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2410-2412)cTc>cCc		pre-mRNA processing factor 6							87.0	82.0	84.0					20																	62660829		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62660829T>C	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+19228A>G	20.37:g.62660829T>C						ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron	p.L804P			O94906	PRP6_HUMAN			18	2522	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		844					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.2411T>C	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.292642	0.80914	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.35605	1.3;1.3	5.44	5.44	0.79542	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.69043	0.3067	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.99;0.999	T	0.77297	-0.2640	10	0.62326	D	0.03	-24.1535	15.8022	0.78463	0.0:0.0:0.0:1.0	.	804;844	O94906-2;O94906	.;PRP6_HUMAN	P	844;804	ENSP00000266079:L844P;ENSP00000446216:L804P	ENSP00000266079:L844P	L	+	2	0	PRPF6	62131273	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.902000	0.87389	2.202000	0.70862	0.533000	0.62120	CTC		0.592	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		13	58	0	0	0	0.001855	0	13	58				
TAF1L	138474	broad.mit.edu	37	9	32631389	32631389	+	Missense_Mutation	SNP	G	G	A	rs528038779		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr9:32631389G>A	ENST00000242310.4	-	1	4278	c.4189C>T	c.(4189-4191)Cgc>Tgc	p.R1397C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1397					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGGTCTGTGCGGCGTCGGTGG	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21409	0.0		0.0	False		,,,				2504	0.0					ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(4189-4191)Cgc>Tgc		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							264.0	249.0	254.0					9																	32631389		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631389G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4189C>T	9.37:g.32631389G>A	ENSP00000418379:p.Arg1397Cys						p.R1397C	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4278	-			1397					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.4189C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110883	0.56398	.	.	ENSG00000122728	ENST00000242310	T	0.19532	2.14	0.658	0.658	0.17855	Bromodomain (3);	0.000000	0.85682	D	0.000000	T	0.22666	0.0547	M	0.64997	1.995	0.58432	D	0.999998	D	0.71674	0.998	P	0.48677	0.586	T	0.04565	-1.0942	10	0.87932	D	0	.	3.7153	0.08435	0.0:1.0E-4:0.5695:0.4304	.	1397	Q8IZX4	TAF1L_HUMAN	C	1397	ENSP00000418379:R1397C	ENSP00000418379:R1397C	R	-	1	0	TAF1L	32621389	0.996000	0.38824	0.994000	0.49952	0.594000	0.36715	1.633000	0.37113	0.626000	0.30322	0.195000	0.17529	CGC		0.468	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			52	231	0	0	0	0.014410	0	52	231				
ALG12	79087	broad.mit.edu	37	22	50307071	50307071	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr22:50307071G>A	ENST00000330817.6	-	3	530	c.257C>T	c.(256-258)tCg>tTg	p.S86L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	86					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTAACAGCGAAAGCACGTA	0.552																																						ENST00000330817.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(256-258)tCg>tTg		ALG12, alpha-1,6-mannosyltransferase							93.0	89.0	91.0					22																	50307071		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50307071G>A	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.257C>T	22.37:g.50307071G>A	ENSP00000333813:p.Ser86Leu						p.S86L	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	3	530	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	86					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.257C>T	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995197	0.54147	.	.	ENSG00000182858	ENST00000330817	D	0.87103	-2.21	5.34	5.34	0.76211	.	0.185092	0.48767	D	0.000177	D	0.90758	0.7099	M	0.73430	2.235	0.46376	D	0.999019	P	0.49559	0.925	P	0.51055	0.657	D	0.90249	0.4292	10	0.40728	T	0.16	-0.6291	19.0284	0.92944	0.0:0.0:1.0:0.0	.	86	Q9BV10	ALG12_HUMAN	L	86	ENSP00000333813:S86L	ENSP00000333813:S86L	S	-	2	0	ALG12	48693075	1.000000	0.71417	0.029000	0.17559	0.193000	0.23685	4.415000	0.59809	2.502000	0.84385	0.591000	0.81541	TCG		0.552	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		6	77	0	0	0	0.003080	0	6	77				
SH3RF3	344558	broad.mit.edu	37	2	110053585	110053585	+	Missense_Mutation	SNP	G	G	C	rs373211870		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr2:110053585G>C	ENST00000309415.6	+	7	1811	c.1811G>C	c.(1810-1812)cGg>cCg	p.R604P		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	604							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AGCCAAGCCCGGAGCACCATT	0.642																																						ENST00000309415.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						c.(1810-1812)cGg>cCg		SH3 domain containing ring finger 3							18.0	26.0	24.0					2																	110053585		2056	4194	6250	SO:0001583	missense	344558						zinc ion binding	g.chr2:110053585G>C	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1811G>C	2.37:g.110053585G>C	ENSP00000309186:p.Arg604Pro						p.R604P	NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN			7	1811	+			604					A0SDZ7|A8MPR1|Q8NDU1	Missense_Mutation	SNP	ENST00000309415.6	37	c.1811G>C		.	.	.	.	.	.	.	.	.	.	G	18.58	3.655451	0.67586	.	.	ENSG00000172985	ENST00000418513;ENST00000309415	T;T	0.60672	0.17;1.94	5.59	5.59	0.84812	.	0.377447	0.28889	N	0.013805	T	0.75488	0.3856	.	.	.	0.46376	D	0.999017	D	0.71674	0.998	D	0.69307	0.963	T	0.74993	-0.3474	9	0.44086	T	0.13	-23.3388	17.766	0.88477	0.0:0.0:1.0:0.0	.	604	Q8TEJ3	SH3R3_HUMAN	P	604	ENSP00000414997:R604P;ENSP00000309186:R604P	ENSP00000309186:R604P	R	+	2	0	SH3RF3	109420017	1.000000	0.71417	0.995000	0.50966	0.638000	0.38207	4.575000	0.60908	2.630000	0.89119	0.650000	0.86243	CGG		0.642	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		7	18	0	0	0	0.001984	0	7	18				
NUMA1	4926	broad.mit.edu	37	11	71725192	71725192	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr11:71725192G>A	ENST00000393695.3	-	15	3688	c.3357C>T	c.(3355-3357)ggC>ggT	p.G1119G	NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.G1119G|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCAGCTTGGGGCCTGTTGGCT	0.602			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(3355-3357)ggC>ggT		nuclear mitotic apparatus protein 1							76.0	82.0	80.0					11																	71725192		2200	4293	6493	SO:0001819	synonymous_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71725192G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.3357C>T	11.37:g.71725192G>A						NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.G1119G	p.G1119G	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	3688	-			1119						Silent	SNP	ENST00000393695.3	37	c.3357C>T	CCDS31633.1																																																																																				0.602	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			33	61	0	0	0	0.010818	0	33	61				
CHRNB3	1142	broad.mit.edu	37	8	42552689	42552689	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr8:42552689G>A	ENST00000289957.2	+	0	128				CHRNB3_ENST00000531610.1_3'UTR	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	CTGACATCACGATGCTCCCAG	0.393																																						ENST00000289957.2																			0				endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25								cholinergic receptor, nicotinic, beta 3 (neuronal)							122.0	105.0	111.0					8																	42552689		2203	4300	6503			1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42552689G>A	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262		8.37:g.42552689G>A						CHRNB3_ENST00000531610.1_3'UTR		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		0	128	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)						Q15827	Translation_Start_Site	SNP	ENST00000289957.2	37		CCDS6134.1																																																																																				0.393	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			12	61	0	0	0	0.003163	0	12	61				
OR2L2	26246	broad.mit.edu	37	1	248201982	248201982	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:248201982G>C	ENST00000366479.2	+	1	509	c.413G>C	c.(412-414)aGa>aCa	p.R138T	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATAAGCAAAAGAGTGTGTGTG	0.438																																						ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(412-414)aGa>aCa		olfactory receptor, family 2, subfamily L, member 2							186.0	165.0	172.0					1																	248201982		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201982G>C	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.413G>C	1.37:g.248201982G>C	ENSP00000355435:p.Arg138Thr					OR2L13_ENST00000366478.2_Intron	p.R138T	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	509	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		138					Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.413G>C	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	4.225	0.040660	0.08196	.	.	ENSG00000203663	ENST00000366479	T	0.41400	1.0	1.9	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.751444	0.10855	U	0.626725	T	0.29524	0.0736	L	0.31578	0.945	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.22695	-1.0209	10	0.49607	T	0.09	.	7.1094	0.25382	0.1509:0.0:0.8491:0.0	.	138	Q8NH16	OR2L2_HUMAN	T	138	ENSP00000355435:R138T	ENSP00000355435:R138T	R	+	2	0	OR2L2	246268605	0.000000	0.05858	0.035000	0.18076	0.049000	0.14656	-0.302000	0.08221	0.897000	0.36392	0.194000	0.17425	AGA		0.438	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		5	143	0	0	0	0.000602	0	5	143				
DPY19L2P2	349152	broad.mit.edu	37	7	102912287	102912287	+	RNA	SNP	A	A	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr7:102912287A>G	ENST00000312132.4	-	0	2292							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										GTGCTTCAATAATGGTCTTGA	0.279																																						ENST00000312132.4																			0																																																			349152							g.chr7:102912287A>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102912287A>G														0	2292	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.279	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		4	43	0	0	0	0.009096	0	4	43				
CDK5RAP1	51654	broad.mit.edu	37	20	31973565	31973565	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr20:31973565C>T	ENST00000357886.4	-	7	920	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R256Q|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R256Q|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R256Q|CDK5RAP1_ENST00000477105.1_5'UTR|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.R166Q			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	256					brain development (GO:0007420)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|regulation of neuron differentiation (GO:0045664)|tRNA modification (GO:0006400)	cytoplasm (GO:0005737)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GTCACAGCCTCGCATGATTGA	0.493																																						ENST00000357886.4																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						c.(766-768)cGa>cAa		CDK5 regulatory subunit associated protein 1							92.0	79.0	83.0					20																	31973565		2203	4300	6503	SO:0001583	missense	51654				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	g.chr20:31973565C>T	AF152097	CCDS13219.1, CCDS63255.1	20q11.21	2012-09-20	2002-07-22	2002-07-26	ENSG00000101391	ENSG00000101391			15880	protein-coding gene	gene with protein product		608200	"""chromosome 20 open reading frame 34"""	C20orf34		10721722, 11882646, 15329498	Standard	NM_016408		Approved	CGI-05, HSPC167, C42	uc002wyy.4	Q96SZ6	OTTHUMG00000032256	ENST00000357886.4:c.767G>A	20.37:g.31973565C>T	ENSP00000350558:p.Arg256Gln					CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R256Q|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R256Q|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.R166Q|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R256Q|CDK5RAP1_ENST00000473997.1_5'UTR	p.R256Q			Q96SZ6	CK5P1_HUMAN			7	920	-			256					A8K7R0|Q5QP46|Q5QP47|Q5QP48|Q675N4|Q675N5|Q9BVG6|Q9BWZ5|Q9H859|Q9NZZ9|Q9Y3F0	Missense_Mutation	SNP	ENST00000357886.4	37	c.767G>A		.	.	.	.	.	.	.	.	.	.	C	26.1	4.707672	0.89018	.	.	ENSG00000101391	ENST00000346416;ENST00000357886;ENST00000339269;ENST00000452723;ENST00000544843	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	4.58	4.58	0.56647	Elongator protein 3/MiaB/NifB (1);Radical SAM, alpha/beta horseshoe (1);Methylthiotransferase, conserved site (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	M	0.65320	2	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.995;1.0;1.0;1.0;1.0;1.0	T	0.48937	-0.8990	10	0.66056	D	0.02	-7.7991	14.8974	0.70654	0.0:1.0:0.0:0.0	.	256;256;256;256;256;256;166	Q675N4;Q96SZ6-4;Q96SZ6;Q675N5;Q53H36;Q96SZ6-3;Q96SZ6-2	.;.;CK5P1_HUMAN;.;.;.;.	Q	256;256;256;166;256	ENSP00000217372:R256Q;ENSP00000350558:R256Q;ENSP00000341840:R256Q;ENSP00000408133:R166Q;ENSP00000439034:R256Q	ENSP00000341840:R256Q	R	-	2	0	CDK5RAP1	31437226	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.401000	0.79962	2.368000	0.80403	0.462000	0.41574	CGA		0.493	CDK5RAP1-011	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078697.1	NM_016408		10	110	0	0	0	0.008291	0	10	110				
DNMT1	1786	broad.mit.edu	37	19	10251810	10251810	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr19:10251810G>T	ENST00000340748.4	-	30	3552	c.3317C>A	c.(3316-3318)cCt>cAt	p.P1106H	DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000359526.4_Missense_Mutation_p.P1122H|DNMT1_ENST00000540357.1_Missense_Mutation_p.P1106H			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1106					cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TTTGTTTCCAGGGCTACGGGC	0.458																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(3316-3318)cCt>cAt		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						183.0	170.0	174.0					19																	10251810		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10251810G>T	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3317C>A	19.37:g.10251810G>T	ENSP00000345739:p.Pro1106His					DNMT1_ENST00000359526.4_Missense_Mutation_p.P1122H|DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000540357.1_Missense_Mutation_p.P1106H	p.P1106H			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		30	3552	-			1106					A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.3317C>A	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.370269	0.42003	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.23754	1.89;1.9;1.9	5.6	3.33	0.38152	.	0.303141	0.35378	N	0.003242	T	0.17109	0.0411	N	0.22421	0.69	0.34216	D	0.674864	B;B;B	0.10296	0.002;0.003;0.0	B;B;B	0.10450	0.005;0.005;0.002	T	0.14117	-1.0484	10	0.36615	T	0.2	.	11.662	0.51352	0.0:0.1339:0.7271:0.139	.	1106;1122;1106	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	H	1122;1106;1106;974	ENSP00000352516:P1122H;ENSP00000440457:P1106H;ENSP00000345739:P1106H	ENSP00000345739:P1106H	P	-	2	0	DNMT1	10112810	1.000000	0.71417	0.808000	0.32385	0.985000	0.73830	4.660000	0.61511	1.324000	0.45282	0.655000	0.94253	CCT		0.458	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		6	161	1	0	0.000157383	0.003080	0.000240076	6	161				
PIK3R4	30849	broad.mit.edu	37	3	130452855	130452855	+	Silent	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr3:130452855G>C	ENST00000356763.3	-	4	1544	c.987C>G	c.(985-987)gcC>gcG	p.A329A		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	329					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TGGCAAACTGGGCCATGTAGG	0.428																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(985-987)gcC>gcG		phosphoinositide-3-kinase, regulatory subunit 4							93.0	94.0	94.0					3																	130452855		2203	4300	6503	SO:0001819	synonymous_variant	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130452855G>C	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.987C>G	3.37:g.130452855G>C							p.A329A	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			4	1544	-			329					Q2TBF4	Silent	SNP	ENST00000356763.3	37	c.987C>G	CCDS3067.1																																																																																				0.428	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		25	127	0	0	0	0.005443	0	25	127				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			28812							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	11	0	0	0	0.004672	0	3	11				
RGS2	5997	broad.mit.edu	37	1	192778228	192778228	+	Silent	SNP	T	T	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:192778228T>C	ENST00000235382.5	+	1	58	c.27T>C	c.(25-27)gtT>gtC	p.V9V	RGS2_ENST00000483295.1_3'UTR	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN	regulator of G-protein signaling 2	9					brown fat cell differentiation (GO:0050873)|cell cycle (GO:0007049)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phospholipase activity (GO:0010519)|positive regulation of cardiac muscle contraction (GO:0060452)|positive regulation of microtubule polymerization (GO:0031116)|regulation of adrenergic receptor signaling pathway (GO:0071877)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of translation (GO:0006417)|relaxation of cardiac muscle (GO:0055119)|relaxation of vascular smooth muscle (GO:0060087)|spermatogenesis (GO:0007283)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			large_intestine(3)|lung(1)|urinary_tract(1)	5						TCTTGGCTGTTCAACACGACT	0.562																																					Pancreas(71;51 2183 4981)	ENST00000235382.5																			0				large_intestine(3)|lung(1)|urinary_tract(1)	5						c.(25-27)gtT>gtC		regulator of G-protein signaling 2, 24kDa							182.0	160.0	167.0					1																	192778228		2203	4300	6503	SO:0001819	synonymous_variant	5997				cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle	cytosol|internal side of plasma membrane|mitochondrion|nucleolus	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192778228T>C	L13463	CCDS1377.1	1q31	2014-06-19	2014-06-19		ENSG00000116741	ENSG00000116741		"""Regulators of G-protein signaling"", ""Endogenous ligands"""	9998	protein-coding gene	gene with protein product		600861	"""regulator of G-protein signalling 2, 24kD"", ""regulator of G-protein signalling 2, 24kDa"", ""regulator of G-protein signaling 2, 24kDa"""	G0S8		8179820	Standard	NM_002923		Approved		uc001gsl.3	P41220	OTTHUMG00000035600	ENST00000235382.5:c.27T>C	1.37:g.192778228T>C						RGS2_ENST00000483295.1_3'UTR	p.V9V	NM_002923.3	NP_002914.1	P41220	RGS2_HUMAN			1	58	+			9					Q6I9U5	Silent	SNP	ENST00000235382.5	37	c.27T>C	CCDS1377.1																																																																																				0.562	RGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086396.1	NM_002923		3	101	0	0	0	0.004672	0	3	101				
SYNE1	23345	broad.mit.edu	37	6	152466628	152466628	+	Intron	SNP	T	T	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr6:152466628T>G	ENST00000367255.5	-	138	25578				SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000356820.4_Intron|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.T8276P|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000354674.4_Missense_Mutation_p.T502P|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8276P|SYNE1_ENST00000539504.1_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTACCGGAGGTATTTTTGATT	0.488										HNSCC(10;0.0054)																												ENST00000448038.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(24826-24828)Acc>Ccc		spectrin repeat containing, nuclear envelope 1							113.0	108.0	110.0					6																	152466628		2203	4300	6503	SO:0001627	intron_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152466628T>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.24977-1728A>C	6.37:g.152466628T>G		HNSCC(10;0.0054)				SYNE1_ENST00000539504.1_Intron|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000367255.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8276P|SYNE1_ENST00000356820.4_Intron|SYNE1_ENST00000354674.4_Missense_Mutation_p.T502P|SYNE1_ENST00000341594.5_Intron	p.T8276P			Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	138	25427	-		Ovarian(120;0.0955)	8324					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.24826A>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	12.45	1.941182	0.34283	.	.	ENSG00000131018	ENST00000423061;ENST00000448038;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T	0.52057	0.68;0.68;1.7;4.71	5.37	-1.63	0.08345	.	.	.	.	.	T	0.12987	0.0315	L	0.36672	1.1	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.20306	-1.0279	9	0.46703	T	0.11	.	0.4828	0.00551	0.2667:0.2027:0.1201:0.4105	.	8276;8276	Q8NF91-4;E9PEL9	.;.	P	8276;8276;509;504;1269;502	ENSP00000396024:T8276P;ENSP00000390975:T8276P;ENSP00000356220:T1269P;ENSP00000346701:T502P	ENSP00000318783:T509P	T	-	1	0	SYNE1	152508321	0.972000	0.33761	0.949000	0.38748	0.872000	0.50106	0.107000	0.15375	-0.544000	0.06232	0.528000	0.53228	ACC		0.488	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		6	40	0	0	0	0.010729	0	6	40				
CYP4A11	1579	broad.mit.edu	37	1	47399867	47399867	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:47399867C>T	ENST00000310638.4	-	8	1100	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	CYP4A11_ENST00000371904.4_Missense_Mutation_p.D358N|CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000462347.1_Intron|CYP4A11_ENST00000496519.1_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.D357N	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	357					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GAGGCTCCATCACCCAGGAGG	0.622																																						ENST00000310638.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(1069-1071)Gat>Aat		cytochrome P450, family 4, subfamily A, polypeptide 11	NADH(DB00157)						50.0	52.0	51.0					1																	47399867		2203	4300	6503	SO:0001583	missense	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47399867C>T	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1069G>A	1.37:g.47399867C>T	ENSP00000311095:p.Asp357Asn					CYP4A11_ENST00000371905.1_Missense_Mutation_p.D357N|CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.D358N|CYP4A11_ENST00000475477.1_Intron	p.D357N	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN			8	1100	-			357					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Missense_Mutation	SNP	ENST00000310638.4	37	c.1069G>A	CCDS543.1	.	.	.	.	.	.	.	.	.	.	g	15.85	2.955005	0.53293	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905	T;T;T	0.70164	-0.46;-0.46;-0.46	5.23	4.32	0.51571	.	0.103999	0.64402	D	0.000003	T	0.60340	0.2261	L	0.42529	1.33	0.80722	D	1	B	0.20550	0.046	B	0.33690	0.168	T	0.59375	-0.7466	10	0.52906	T	0.07	.	8.3544	0.32321	0.0:0.7247:0.1298:0.1455	.	357	Q02928	CP4AB_HUMAN	N	357;358;357	ENSP00000311095:D357N;ENSP00000360971:D358N;ENSP00000360972:D357N	ENSP00000311095:D357N	D	-	1	0	CYP4A11	47172454	0.096000	0.21769	0.995000	0.50966	0.836000	0.47400	2.865000	0.48412	1.342000	0.45619	0.650000	0.86243	GAT		0.622	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		14	31	0	0	0	0.003163	0	14	31				
PDF	64146	broad.mit.edu	37	16	69363038	69363038	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr16:69363038A>C	ENST00000288022.1	-	2	643	c.619T>G	c.(619-621)Tgg>Ggg	p.W207G	RP11-343C2.12_ENST00000562949.1_Silent_p.G132G|COG8_ENST00000306875.4_3'UTR|COG8_ENST00000564419.1_5'Flank	NM_022341.1	NP_071736.1	Q9HBH1	DEFM_HUMAN	peptide deformylase (mitochondrial)	207					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|positive regulation of cell proliferation (GO:0008284)|translation (GO:0006412)	mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|peptide deformylase activity (GO:0042586)			NS(1)|prostate(1)	2						CGGGCTGCCCACCCGCTCGCC	0.557																																						ENST00000288022.1																			0				NS(1)|prostate(1)	2						c.(619-621)Tgg>Ggg		peptide deformylase (mitochondrial)							54.0	48.0	50.0					16																	69363038		2198	4300	6498	SO:0001583	missense	64146				N-terminal protein amino acid modification|peptidyl-methionine modification|positive regulation of cell proliferation|translation	mitochondrion	iron ion binding|peptide deformylase activity	g.chr16:69363038A>C	AF239156	CCDS10875.1	16q22.1	2008-02-05				ENSG00000258429	3.5.1.88		30012	protein-coding gene	gene with protein product						11060042, 15489958	Standard	NM_022341		Approved		uc002ewx.1	Q9HBH1		ENST00000288022.1:c.619T>G	16.37:g.69363038A>C	ENSP00000288022:p.Trp207Gly					COG8_ENST00000306875.4_3'UTR	p.W207G	NM_022341.1	NP_071736.1	Q9HBH1	DEFM_HUMAN			2	643	-			207					Q8WUN6	Missense_Mutation	SNP	ENST00000288022.1	37	c.619T>G	CCDS10875.1	.	.	.	.	.	.	.	.	.	.	a	22.0	4.226101	0.79576	.	.	ENSG00000258429	ENST00000288022	T	0.47528	0.84	4.95	4.95	0.65309	Peptide deformylase (3);	0.000000	0.64402	U	0.000001	T	0.73814	0.3635	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80547	-0.1334	10	0.87932	D	0	.	14.5724	0.68220	1.0:0.0:0.0:0.0	.	207	Q9HBH1	DEFM_HUMAN	G	207	ENSP00000288022:W207G	ENSP00000288022:W207G	W	-	1	0	PDF	67920539	1.000000	0.71417	0.907000	0.35723	0.660000	0.38997	6.968000	0.76086	1.972000	0.57404	0.454000	0.30748	TGG		0.557	PDF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413022.1	NM_022341		7	60	0	0	0	0.004482	0	7	60				
NPAS4	266743	broad.mit.edu	37	11	66191328	66191328	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr11:66191328C>T	ENST00000311034.2	+	7	1143	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	323					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGAGCCTCCGCCAGCAGTT	0.552																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(967-969)Cgc>Tgc		neuronal PAS domain protein 4							77.0	80.0	79.0					11																	66191328		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66191328C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.967C>T	11.37:g.66191328C>T	ENSP00000311196:p.Arg323Cys						p.R323C	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			7	1143	+			323					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.967C>T	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880747	0.51801	.	.	ENSG00000174576	ENST00000311034	T	0.51325	0.71	4.71	4.71	0.59529	.	0.000000	0.52532	D	0.000061	T	0.52386	0.1731	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.45160	-0.9280	10	0.35671	T	0.21	-11.155	10.5639	0.45161	0.1925:0.8075:0.0:0.0	.	323	Q8IUM7	NPAS4_HUMAN	C	323	ENSP00000311196:R323C	ENSP00000311196:R323C	R	+	1	0	NPAS4	65947904	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.510000	0.45468	2.607000	0.88179	0.561000	0.74099	CGC		0.552	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		28	101	0	0	0	0.009535	0	28	101				
CDH19	28513	broad.mit.edu	37	18	64172339	64172339	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr18:64172339C>A	ENST00000262150.2	-	12	2321	c.2029G>T	c.(2029-2031)Gag>Tag	p.E677*	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTCCTGATCTCAGCGCTTGTG	0.483																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(2029-2031)Gag>Tag		cadherin 19, type 2							169.0	159.0	162.0					18																	64172339		2203	4300	6503	SO:0001587	stop_gained	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64172339C>A	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.2029G>T	18.37:g.64172339C>A	ENSP00000262150:p.Glu677*					CDH19_ENST00000540086.1_3'UTR	p.E677*	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			12	2321	-		Esophageal squamous(42;0.0132)	677					O15098	Nonsense_Mutation	SNP	ENST00000262150.2	37	c.2029G>T	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	C	35	5.468061	0.96257	.	.	ENSG00000071991	ENST00000262150	.	.	.	5.19	4.31	0.51392	.	0.221132	0.48767	D	0.000169	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.2451	0.73502	0.0:0.7341:0.2659:0.0	.	.	.	.	X	677	.	ENSP00000262150:E677X	E	-	1	0	CDH19	62323319	0.765000	0.28485	0.106000	0.21319	0.079000	0.17450	1.333000	0.33816	1.287000	0.44583	0.655000	0.94253	GAG		0.483	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		47	128	1	0	3.54909e-21	0.011902	6.02676e-21	47	128				
CC2D2A	57545	broad.mit.edu	37	4	15556747	15556747	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr4:15556747G>A	ENST00000503292.1	+	21	2719	c.2539G>A	c.(2539-2541)Gac>Aac	p.D847N	CC2D2A_ENST00000424120.1_Missense_Mutation_p.D847N|CC2D2A_ENST00000389652.5_Missense_Mutation_p.D798N|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D847N	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	847					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						AGGACTGACAGACATGAAAAA	0.468																																						ENST00000424120.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(2539-2541)Gac>Aac		coiled-coil and C2 domain containing 2A							92.0	97.0	95.0					4																	15556747		1974	4151	6125	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15556747G>A	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.2539G>A	4.37:g.15556747G>A	ENSP00000421809:p.Asp847Asn					CC2D2A_ENST00000389652.5_Missense_Mutation_p.D798N|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D847N|CC2D2A_ENST00000503292.1_Missense_Mutation_p.D847N	p.D847N			Q9P2K1	C2D2A_HUMAN			20	2793	+			847					A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.2539G>A	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778196	0.49786	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.54	5.54	0.83059	.	0.105821	0.64402	D	0.000006	T	0.66025	0.2748	L	0.55834	1.745	0.80722	D	1	P;D	0.54964	0.855;0.969	B;P	0.47470	0.43;0.548	T	0.65384	-0.6181	10	0.38643	T	0.18	.	19.4751	0.94983	0.0:0.0:1.0:0.0	.	847;798	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	N	847;847;798;798;847;798	ENSP00000403465:D847N;ENSP00000398391:D847N;ENSP00000421809:D847N;ENSP00000374303:D798N	ENSP00000374303:D798N	D	+	1	0	CC2D2A	15165845	1.000000	0.71417	0.975000	0.42487	0.311000	0.27955	9.576000	0.98192	2.618000	0.88619	0.655000	0.94253	GAC		0.468	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		12	24	0	0	0	0.010729	0	12	24				
AFF1	4299	broad.mit.edu	37	4	88029324	88029324	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr4:88029324C>G	ENST00000307808.6	+	10	1789	c.1369C>G	c.(1369-1371)Ctt>Gtt	p.L457V	AFF1_ENST00000544085.1_Missense_Mutation_p.L95V|AFF1_ENST00000395146.4_Missense_Mutation_p.L464V	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	457					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCCACAGTCCCTTCCAGAACC	0.478																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(1369-1371)Ctt>Gtt		AF4/FMR2 family, member 1							113.0	100.0	104.0					4																	88029324		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88029324C>G	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1369C>G	4.37:g.88029324C>G	ENSP00000305689:p.Leu457Val					AFF1_ENST00000395146.4_Missense_Mutation_p.L464V|AFF1_ENST00000544085.1_Missense_Mutation_p.L95V	p.L457V	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	10	1789	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	457					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.1369C>G	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	6.394	0.440826	0.12104	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000511722;ENST00000544085;ENST00000514970	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.28	4.43	0.53597	.	0.525534	0.18012	N	0.154504	T	0.52370	0.1730	L	0.41710	1.295	0.19300	N	0.999975	B;B;B	0.34103	0.437;0.437;0.437	B;B;B	0.29862	0.108;0.108;0.108	T	0.38779	-0.9645	10	0.28530	T	0.3	-7.7926	15.7671	0.78135	0.137:0.863:0.0:0.0	.	464;457;457	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	V	464;457;95;95;148	ENSP00000378578:L464V;ENSP00000305689:L457V;ENSP00000424766:L95V;ENSP00000440843:L95V;ENSP00000424881:L148V	ENSP00000305689:L457V	L	+	1	0	AFF1	88248348	0.963000	0.33076	0.652000	0.29579	0.020000	0.10135	2.753000	0.47524	1.329000	0.45376	0.655000	0.94253	CTT		0.478	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		9	78	0	0	0	0.008291	0	9	78				
ALOX15B	247	broad.mit.edu	37	17	7942598	7942598	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr17:7942598G>T	ENST00000380183.4	+	1	264	c.125G>T	c.(124-126)gGc>gTc	p.G42V	ALOX15B_ENST00000380173.2_Missense_Mutation_p.G42V|ALOX15B_ENST00000572022.1_Missense_Mutation_p.G42V|ALOX15B_ENST00000573359.1_Missense_Mutation_p.G42V	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	42	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GACAATCTCGGCAAGGAGTTC	0.652																																						ENST00000380183.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						c.(124-126)gGc>gTc		arachidonate 15-lipoxygenase, type B							53.0	60.0	58.0					17																	7942598		2203	4300	6503	SO:0001583	missense	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7942598G>T	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.125G>T	17.37:g.7942598G>T	ENSP00000369530:p.Gly42Val					ALOX15B_ENST00000573359.1_Missense_Mutation_p.G42V|ALOX15B_ENST00000572022.1_Missense_Mutation_p.G42V|ALOX15B_ENST00000380173.2_Missense_Mutation_p.G42V	p.G42V	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN			1	264	+			42			PLAT.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Missense_Mutation	SNP	ENST00000380183.4	37	c.125G>T	CCDS11128.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688213	0.48097	.	.	ENSG00000179593	ENST00000380173;ENST00000339694;ENST00000380183	T;T	0.65549	-0.16;-0.16	4.28	4.28	0.50868	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.079566	0.49305	D	0.000160	T	0.78117	0.4233	M	0.81497	2.545	0.58432	D	0.999999	D;D;D;D	0.65815	0.995;0.994;0.994;0.995	D;P;P;D	0.64595	0.927;0.88;0.88;0.927	T	0.80585	-0.1317	10	0.46703	T	0.11	-28.4157	15.8407	0.78842	0.0:0.0:1.0:0.0	.	42;42;42;42	B4DNW8;O15296-2;O15296-4;O15296	.;.;.;LX15B_HUMAN	V	42	ENSP00000369520:G42V;ENSP00000369530:G42V	ENSP00000344337:G42V	G	+	2	0	ALOX15B	7883323	0.998000	0.40836	0.988000	0.46212	0.791000	0.44710	2.806000	0.47947	2.073000	0.62155	0.591000	0.81541	GGC		0.652	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2			15	54	1	0	5.3912e-06	0.006122	8.82197e-06	15	54				
MYO15A	51168	broad.mit.edu	37	17	18055176	18055176	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr17:18055176G>A	ENST00000205890.5	+	41	8142	c.7804G>A	c.(7804-7806)Gtg>Atg	p.V2602M	MYO15A_ENST00000418233.3_5'Flank|MYO15A_ENST00000585180.1_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2602	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGCGGGAAAGTGTTCATGAA	0.567																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(7804-7806)Gtg>Atg		myosin XVA							40.0	46.0	44.0					17																	18055176		2032	4175	6207	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18055176G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.7804G>A	17.37:g.18055176G>A	ENSP00000205890:p.Val2602Met						p.V2602M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			41	8142	+	all_neural(463;0.228)		2602			Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.7804G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004251	0.35320	.	.	ENSG00000091536	ENST00000205890	D	0.88818	-2.43	5.24	2.14	0.27477	.	.	.	.	.	D	0.82926	0.5143	L	0.53249	1.67	0.80722	D	1	B	0.20780	0.048	B	0.11329	0.006	T	0.75385	-0.3336	9	0.36615	T	0.2	.	5.4861	0.16751	0.246:0.1466:0.6074:0.0	.	2602	Q9UKN7	MYO15_HUMAN	M	2602	ENSP00000205890:V2602M	ENSP00000205890:V2602M	V	+	1	0	MYO15A	17995901	1.000000	0.71417	0.982000	0.44146	0.839000	0.47603	2.003000	0.40844	0.707000	0.31934	-0.258000	0.10820	GTG		0.567	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		3	13	0	0	0	0.009096	0	3	13				
IGFBP4	3487	broad.mit.edu	37	17	38610286	38610286	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr17:38610286A>G	ENST00000269593.4	+	3	889	c.614A>G	c.(613-615)gAc>gGc	p.D205G	IGFBP4_ENST00000542955.1_Missense_Mutation_p.D105G	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	205	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCCAACTGCGACCGCAACGGC	0.672																																					GBM(160;940 3581 26177)	ENST00000269593.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						c.(613-615)gAc>gGc		insulin-like growth factor binding protein 4							130.0	122.0	125.0					17																	38610286		2203	4300	6503	SO:0001583	missense	3487				DNA metabolic process|signal transduction|skeletal system development			g.chr17:38610286A>G	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"""IGF-binding protein 4"""	146733	"""insulin-like growth factor-binding protein 4"""			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.614A>G	17.37:g.38610286A>G	ENSP00000269593:p.Asp205Gly					IGFBP4_ENST00000542955.1_Missense_Mutation_p.D105G	p.D205G	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		3	889	+		Breast(137;0.000496)	205			Thyroglobulin type-1.		A0N9W2|B4E351|Q5U012|Q9UCL6	Missense_Mutation	SNP	ENST00000269593.4	37	c.614A>G	CCDS11367.1	.	.	.	.	.	.	.	.	.	.	A	29.1	4.976873	0.92982	.	.	ENSG00000141753	ENST00000542955;ENST00000269593	T;T	0.69561	-0.41;-0.41	5.91	5.91	0.95273	Thyroglobulin type-1 (5);	0.000000	0.85682	D	0.000000	D	0.82342	0.5016	M	0.81802	2.56	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.84670	0.0711	10	0.72032	D	0.01	-20.881	14.59	0.68356	1.0:0.0:0.0:0.0	.	205	P22692	IBP4_HUMAN	G	105;205	ENSP00000437734:D105G;ENSP00000269593:D205G	ENSP00000269593:D205G	D	+	2	0	IGFBP4	35863812	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.984000	0.88150	2.254000	0.74563	0.533000	0.62120	GAC		0.672	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257134.1	NM_001552		3	138	0	0	0	0.004672	0	3	138				
SEL1L2	80343	broad.mit.edu	37	20	13856747	13856747	+	Silent	SNP	C	C	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr20:13856747C>A	ENST00000284951.5	-	12	1115	c.1041G>T	c.(1039-1041)ggG>ggT	p.G347G	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.G347G			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	347						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CGGCAGCATTCCCCTCTAAAT	0.363																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1039-1041)ggG>ggT		sel-1 suppressor of lin-12-like 2 (C. elegans)							150.0	141.0	144.0					20																	13856747		1875	4100	5975	SO:0001819	synonymous_variant	80343					integral to membrane	binding	g.chr20:13856747C>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1041G>T	20.37:g.13856747C>A						SEL1L2_ENST00000378072.5_Silent_p.G347G|SEL1L2_ENST00000486903.1_5'UTR	p.G347G			Q5TEA6	SE1L2_HUMAN			12	1115	-			347					B4DXX5	Silent	SNP	ENST00000284951.5	37	c.1041G>T																																																																																					0.363	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		9	145	1	0	0.000274275	0.004482	0.000404668	9	145				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			28812							g.chr22:23006960C>A																													22.37:g.23006960C>A														0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	11	1	0	6.4e-05	0.004672	9.93103e-05	3	11				
MTR	4548	broad.mit.edu	37	1	237037075	237037075	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:237037075T>A	ENST00000366577.5	+	23	2802	c.2408T>A	c.(2407-2409)gTt>gAt	p.V803D	MTR_ENST00000535889.1_Missense_Mutation_p.V752D	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	803	B12-binding. {ECO:0000255|PROSITE- ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TGCCTCAGAGTTATTGATTTA	0.353																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(2407-2409)gTt>gAt		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						147.0	134.0	138.0					1																	237037075		2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237037075T>A	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2408T>A	1.37:g.237037075T>A	ENSP00000355536:p.Val803Asp					MTR_ENST00000535889.1_Missense_Mutation_p.V752D	p.V803D	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	23	2802	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	803			B12-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.2408T>A	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469975	0.84533	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	D;D;D	0.83250	-1.7;-1.7;-1.7	5.32	5.32	0.75619	Cobalamin (vitamin B12)-binding (4);	0.000000	0.85682	D	0.000000	D	0.96371	0.8816	H	0.99993	5.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	D	0.98393	1.0564	10	0.87932	D	0	-28.2411	15.4479	0.75248	0.0:0.0:0.0:1.0	.	803;752;803	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	D	657;803;752;357	ENSP00000355536:V803D;ENSP00000441845:V752D;ENSP00000355535:V357D	ENSP00000355535:V357D	V	+	2	0	MTR	235103698	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.153000	0.77428	2.228000	0.72767	0.533000	0.62120	GTT		0.353	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		6	35	0	0	0	0.001984	0	6	35				
TRAF3	7187	broad.mit.edu	37	14	103363738	103363738	+	Splice_Site	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr14:103363738G>A	ENST00000560371.1	+	9	1177	c.960G>A	c.(958-960)caG>caA	p.Q320Q	TRAF3_ENST00000539721.1_Splice_Site_p.Q237Q|TRAF3_ENST00000347662.4_Splice_Site_p.Q295Q|TRAF3_ENST00000392745.2_Splice_Site_p.Q320Q|TRAF3_ENST00000351691.5_Splice_Site_p.Q295Q	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	320					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		TTCATTTACAGGTAAGAATCT	0.403																																						ENST00000560371.1																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30						c.e9+1		TNF receptor-associated factor 3							51.0	48.0	49.0					14																	103363738		2203	4299	6502	SO:0001630	splice_region_variant	7187				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103363738G>A	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.960+1G>A	14.37:g.103363738G>A						TRAF3_ENST00000539721.1_Splice_Site_p.Q237_splice|TRAF3_ENST00000392745.2_Splice_Site_p.Q320_splice|TRAF3_ENST00000347662.4_Splice_Site_p.Q295_splice|TRAF3_ENST00000351691.5_Splice_Site_p.Q295_splice	p.Q320_splice	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	9	1177	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	320					B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Splice_Site	SNP	ENST00000560371.1	37	c.960_splice	CCDS9975.1																																																																																				0.403	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725	Silent	3	16	0	0	0	0.004672	0	3	16				
MROH7	374977	broad.mit.edu	37	1	55139731	55139731	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:55139731C>T	ENST00000421030.2	+	10	2128	c.1843C>T	c.(1843-1845)Ctc>Ttc	p.L615F	MROH7_ENST00000409996.1_Missense_Mutation_p.L183F|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.L615F|MROH7_ENST00000545244.1_Missense_Mutation_p.L183F|MROH7_ENST00000395690.2_Missense_Mutation_p.L615F|MROH7_ENST00000454855.2_Missense_Mutation_p.L133F|MROH7_ENST00000339553.5_Missense_Mutation_p.L615F	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	615						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GCTGGGGAGACTCATCCTTCA	0.488																																						ENST00000414150.2																			0											c.(1843-1845)Ctc>Ttc		maestro heat-like repeat family member 7							124.0	132.0	129.0					1																	55139731		1917	4147	6064	SO:0001583	missense	374977							g.chr1:55139731C>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.1843C>T	1.37:g.55139731C>T	ENSP00000396622:p.Leu615Phe					MROH7_ENST00000409996.1_Missense_Mutation_p.L183F|MROH7_ENST00000395690.2_Missense_Mutation_p.L615F|MROH7_ENST00000421030.2_Missense_Mutation_p.L615F|MROH7_ENST00000339553.5_Missense_Mutation_p.L615F|MROH7_ENST00000545244.1_Missense_Mutation_p.L183F|MROH7_ENST00000454855.2_Missense_Mutation_p.L133F	p.L615F							10	2121	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.1843C>T	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335475	0.81801	.	.	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71	4.65	4.65	0.58169	.	0.000000	0.43747	D	0.000526	T	0.57330	0.2046	L	0.41632	1.29	0.40972	D	0.984704	D;D;D	0.76494	0.989;0.996;0.999	P;D;D	0.69824	0.858;0.925;0.966	T	0.58120	-0.7692	10	0.44086	T	0.13	-16.1355	13.0837	0.59127	0.0:1.0:0.0:0.0	.	615;615;183	F8W8P2;Q68CQ1;F5H7R4	.;HEAT8_HUMAN;.	F	615;183;644;615;183;133;615	ENSP00000396622:L615F;ENSP00000442333:L183F;ENSP00000343211:L615F;ENSP00000387048:L183F;ENSP00000401130:L133F;ENSP00000379044:L615F	ENSP00000343211:L615F	L	+	1	0	HEATR8	54912319	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.578000	0.53892	2.153000	0.67306	0.558000	0.71614	CTC		0.488	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		23	86	0	0	0	0.003330	0	23	86				
FCN1	2219	broad.mit.edu	37	9	137801845	137801845	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr9:137801845G>A	ENST00000371806.3	-	9	871	c.780C>T	c.(778-780)gaC>gaT	p.D260D		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	260	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CATTGTCTTGGTCTTTGGTGG	0.483																																						ENST00000371806.3																			0				endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(778-780)gaC>gaT		ficolin (collagen/fibrinogen domain containing) 1							219.0	221.0	221.0					9																	137801845		2203	4300	6503	SO:0001819	synonymous_variant	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137801845G>A	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.780C>T	9.37:g.137801845G>A							p.D260D	NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	9	871	-		Myeloproliferative disorder(178;0.0333)	260			Fibrinogen C-terminal.		Q5VYV5|Q92596	Silent	SNP	ENST00000371806.3	37	c.780C>T	CCDS6985.1																																																																																				0.483	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		57	260	0	0	0	0.014410	0	57	260				
DPH5	51611	broad.mit.edu	37	1	101490909	101490909	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:101490909G>A	ENST00000370109.3	-	2	203	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	DPH5_ENST00000370105.3_5'UTR|RP11-421L21.3_ENST00000446527.1_RNA|DPH5_ENST00000488176.1_Silent_p.L31L|DPH5_ENST00000342173.7_Silent_p.L31L|RP11-421L21.3_ENST00000453011.1_RNA	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	31					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TAGGCTTCCAGATACACTCGA	0.507																																						ENST00000370109.3																			0				endometrium(2)|large_intestine(1)|lung(4)	7						c.(91-93)Ctg>Ttg		diphthamide biosynthesis 5							73.0	74.0	73.0					1																	101490909		1942	4158	6100	SO:0001819	synonymous_variant	51611				peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity	g.chr1:101490909G>A	AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.91C>T	1.37:g.101490909G>A						DPH5_ENST00000488176.1_Silent_p.L31L|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Silent_p.L31L	p.L31L	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)	2	203	-		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	31					A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Silent	SNP	ENST00000370109.3	37	c.91C>T	CCDS41358.1																																																																																				0.507	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		4	52	0	0	0	0.009096	0	4	52				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - coding silent(2)	p.V49V(2)	lung(1)|kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(145-147)gtG>gtC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V	p.V49V			P30443	1A01_HUMAN			4	488	+			49			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		4	38	0	0	0	0.000602	0	4	38				
PAOX	196743	broad.mit.edu	37	10	135195045	135195045	+	Silent	SNP	C	C	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr10:135195045C>A	ENST00000278060.5	+	3	833	c.750C>A	c.(748-750)atC>atA	p.I250I	AL360181.1_ENST00000597657.1_5'Flank|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Silent_p.I250I|PAOX_ENST00000357296.3_Silent_p.I250I	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	388					cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|positive regulation of spermidine biosynthetic process (GO:1901307)|putrescine biosynthetic process (GO:0009446)|putrescine catabolic process (GO:0009447)|small molecule metabolic process (GO:0044281)|spermidine catabolic process (GO:0046203)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	peroxisomal matrix (GO:0005782)	N(1),N(12)-diacetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052899)|N1-acetylspermidine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052904)|N1-acetylspermine:oxygen oxidoreductase (3-acetamidopropanal-forming) activity (GO:0052903)|polyamine oxidase activity (GO:0046592)|receptor binding (GO:0005102)|spermidine:oxygen oxidoreductase (3-aminopropanal-forming) activity (GO:0052902)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TGAAGACCATCCACTGGAACG	0.572																																						ENST00000278060.5																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23						c.(748-750)atC>atA		polyamine oxidase (exo-N4-amino)							75.0	68.0	70.0					10																	135195045		2202	4300	6502	SO:0001819	synonymous_variant	196743				polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	g.chr10:135195045C>A	BC032778	CCDS7682.1, CCDS7683.1, CCDS7684.1	10q26.3	2003-11-13			ENSG00000148832	ENSG00000148832			20837	protein-coding gene	gene with protein product		615853				12660232	Standard	NM_207127		Approved	PAO	uc001lmv.3	Q6QHF9	OTTHUMG00000019318	ENST00000278060.5:c.750C>A	10.37:g.135195045C>A						PAOX_ENST00000480071.2_Silent_p.I250I|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Silent_p.I250I|PAOX_ENST00000368535.2_3'UTR	p.I250I	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)	3	833	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	388					D3DXI6|Q5VWY0|Q6QHF5|Q6QHF6|Q6QHF7|Q6QHF8|Q6QHG0|Q6QHG1|Q6QHG2|Q6QHG3|Q6QHG4|Q6QHG5|Q6QHG6|Q86WP9|Q8N555|Q8NCX3	Silent	SNP	ENST00000278060.5	37	c.750C>A	CCDS7683.1																																																																																				0.572	PAOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051146.2	NM_152911		10	53	1	0	2.17888e-05	0.006214	3.44033e-05	10	53				
KCTD19	146212	broad.mit.edu	37	16	67335719	67335719	+	Silent	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr16:67335719G>C	ENST00000304372.5	-	5	805	c.750C>G	c.(748-750)gcC>gcG	p.A250A	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	250					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ACCACCTTACGGCTTCAGTGA	0.468																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(748-750)gcC>gcG		potassium channel tetramerization domain containing 19							173.0	176.0	175.0					16																	67335719		1910	4122	6032	SO:0001819	synonymous_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67335719G>C	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.750C>G	16.37:g.67335719G>C						KCTD19_ENST00000562860.1_5'UTR	p.A250A	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	5	805	-		Ovarian(137;0.192)	250					B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	37	c.750C>G	CCDS42179.1																																																																																				0.468	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		18	186	0	0	0	0.006122	0	18	186				
TBCEL	219899	broad.mit.edu	37	11	120957788	120957788	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr11:120957788G>C	ENST00000529397.1	+	8	1358	c.1258G>C	c.(1258-1260)Gaa>Caa	p.E420Q	TBCEL_ENST00000422003.2_Missense_Mutation_p.E420Q	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	420	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		AATTTACGTGGAATCCAAAAC	0.413																																						ENST00000422003.2																		TECTA/TBCEL(2)	0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(1258-1260)Gaa>Caa		tubulin folding cofactor E-like							45.0	45.0	45.0					11																	120957788		2203	4298	6501	SO:0001583	missense	219899					cytoplasm|cytoskeleton		g.chr11:120957788G>C	BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.1258G>C	11.37:g.120957788G>C	ENSP00000437184:p.Glu420Gln					TBCEL_ENST00000529397.1_Missense_Mutation_p.E420Q	p.E420Q	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)	8	1446	+		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)	420			Ubiquitin-like.		Q0VAN6	Missense_Mutation	SNP	ENST00000529397.1	37	c.1258G>C	CCDS31692.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.084757	0.55861	.	.	ENSG00000154114	ENST00000529397;ENST00000422003;ENST00000533169	T;T	0.30981	1.51;1.51	5.69	4.79	0.61399	Ubiquitin supergroup (1);	0.151927	0.64402	D	0.000020	T	0.22704	0.0548	N	0.24115	0.695	0.58432	D	0.999996	B	0.21905	0.062	B	0.20577	0.03	T	0.02781	-1.1111	10	0.30854	T	0.27	-14.3804	14.9436	0.71012	0.0687:0.0:0.9313:0.0	.	420	Q5QJ74	TBCEL_HUMAN	Q	420;420;223	ENSP00000437184:E420Q;ENSP00000403925:E420Q	ENSP00000403925:E420Q	E	+	1	0	TBCEL	120462998	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.228000	0.95250	1.404000	0.46819	0.655000	0.94253	GAA		0.413	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387688.1	NM_152715		8	16	0	0	0	0.008291	0	8	16				
ACAD10	80724	broad.mit.edu	37	12	112182675	112182675	+	Missense_Mutation	SNP	C	C	T	rs201684179		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr12:112182675C>T	ENST00000313698.4	+	13	2098	c.1943C>T	c.(1942-1944)tCa>tTa	p.S648L	ACAD10_ENST00000455480.2_Missense_Mutation_p.S679L|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.S250L|ACAD10_ENST00000549590.1_Missense_Mutation_p.S648L	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	648						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GCTCATACCTCAAGGGGAGGT	0.582																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(2035-2037)tCa>tTa		acyl-CoA dehydrogenase family, member 10							77.0	71.0	73.0					12																	112182675		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112182675C>T	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1943C>T	12.37:g.112182675C>T	ENSP00000325137:p.Ser648Leu					ACAD10_ENST00000313698.4_Missense_Mutation_p.S648L|ACAD10_ENST00000549590.1_Missense_Mutation_p.S648L|ACAD10_ENST00000392636.2_Missense_Mutation_p.S250L|ACAD10_ENST00000413681.3_3'UTR	p.S679L	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			14	2213	+			648					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.2036C>T	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826016	0.50739	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000515283;ENST00000313698;ENST00000507683	D;T;D;D	0.96334	-3.98;3.24;-3.59;-3.6	4.65	4.65	0.58169	Acyl-CoA dehydrogenase/oxidase (1);	0.816114	0.10846	N	0.627700	D	0.94840	0.8333	M	0.62723	1.935	0.09310	N	1	B;B;P	0.34724	0.015;0.105;0.465	B;B;B	0.31101	0.015;0.036;0.124	D	0.89089	0.3481	10	0.33940	T	0.23	.	16.4253	0.83813	0.0:1.0:0.0:0.0	.	679;648;648	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	L	250;648;648;679;41;648;229	ENSP00000376411:S250L;ENSP00000446959:S648L;ENSP00000389813:S679L;ENSP00000325137:S648L	ENSP00000325137:S648L	S	+	2	0	ACAD10	110667058	0.077000	0.21312	0.010000	0.14722	0.024000	0.10985	4.760000	0.62235	2.413000	0.81919	0.655000	0.94253	TCA		0.582	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		4	58	0	0	0	0.000602	0	4	58				
NEDD4	4734	broad.mit.edu	37	15	56130006	56130006	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr15:56130006T>G	ENST00000508342.1	-	20	3799	c.3500A>C	c.(3499-3501)cAa>cCa	p.Q1167P	NEDD4_ENST00000338963.2_Missense_Mutation_p.Q1095P|NEDD4_ENST00000435532.3_Missense_Mutation_p.Q748P|NEDD4_ENST00000506154.1_Missense_Mutation_p.Q1151P	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1167	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AGCAGCCATTTGCTTCTGGAT	0.328																																						ENST00000508342.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(3499-3501)cAa>cCa		neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase							91.0	85.0	87.0					15																	56130006		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56130006T>G	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3500A>C	15.37:g.56130006T>G	ENSP00000424827:p.Gln1167Pro					NEDD4_ENST00000435532.3_Missense_Mutation_p.Q748P|NEDD4_ENST00000338963.2_Missense_Mutation_p.Q1095P|NEDD4_ENST00000506154.1_Missense_Mutation_p.Q1151P	p.Q1167P			P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	20	3799	-			1167			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.3500A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.5|22.5	4.293996|4.293996	0.81025|0.81025	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	.|T;T;T;T	.|0.52295	.|0.67;0.67;0.67;0.67	5.8|5.8	5.8|5.8	0.92144|0.92144	.|HECT (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73087|0.73087	0.3542|0.3542	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.998	T|T	0.78518|0.78518	-0.2173|-0.2173	5|10	.|0.87932	.|D	.|0	.|.	15.3317|15.3317	0.74219|0.74219	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1151;748;1167;1095	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	Q|P	758|1167;748;1095;1151	.|ENSP00000424827:Q1167P;ENSP00000410613:Q748P;ENSP00000345530:Q1095P;ENSP00000422705:Q1151P	.|ENSP00000345530:Q1095P	K|Q	-|-	1|2	0|0	NEDD4|NEDD4	53917298|53917298	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.078000|6.078000	0.71282|0.71282	2.206000|2.206000	0.71126|0.71126	0.528000|0.528000	0.53228|0.53228	AAA|CAA		0.328	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		4	19	0	0	0	0.000602	0	4	19				
SLC15A1	6564	broad.mit.edu	37	13	99340612	99340612	+	Splice_Site	SNP	T	T	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr13:99340612T>C	ENST00000376503.5	-	20	1630		c.e20-2			NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1						digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AAGCCTTTTCTATCAAAATAA	0.303																																						ENST00000376503.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.e20-2		solute carrier family 15 (oligopeptide transporter), member 1	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)						56.0	58.0	57.0					13																	99340612		2203	4300	6503	SO:0001630	splice_region_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99340612T>C	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1575-2A>G	13.37:g.99340612T>C								NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN			20	1630	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)							Q5VW82	Splice_Site	SNP	ENST00000376503.5	37		CCDS9489.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.554934	0.45487	.	.	ENSG00000088386	ENST00000376503	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.716	0.57115	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC15A1	98138613	0.517000	0.26226	0.951000	0.38953	0.113000	0.19764	3.005000	0.49521	2.054000	0.61138	0.533000	0.62120	.		0.303	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073	Intron	3	57	0	0	0	0.004672	0	3	57				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		5	48	0	0	0	0.000602	0	5	48				
SEPT1	1731	broad.mit.edu	37	16	30387481	30387481	+	IGR	SNP	G	G	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr16:30387481G>T	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Missense_Mutation_p.D38Y			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CACTGTGATCGACCAGAACCG	0.607																																						ENST00000322861.7																			0				large_intestine(2)|lung(4)	6						c.(112-114)Gac>Tac		myosin light chain, phosphorylatable, fast skeletal muscle							58.0	55.0	56.0					16																	30387481		2197	4300	6497	SO:0001628	intergenic_variant	29895				skeletal muscle tissue development	muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr16:30387481G>T	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30387481G>T							p.D38Y	NM_013292.3	NP_037424.2	Q96A32	MLRS_HUMAN	Colorectal(24;0.193)		3	193	+			38			EF-hand 1.		B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	ENST00000571393.1	37	c.112G>T		.	.	.	.	.	.	.	.	.	.	G	20.6	4.023909	0.75390	.	.	ENSG00000180209	ENST00000322861	D	0.90004	-2.6	4.95	4.95	0.65309	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.97448	0.9165	H	0.99870	4.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99537	1.0962	10	0.87932	D	0	.	17.3941	0.87440	0.0:0.0:1.0:0.0	.	38	Q96A32	MLRS_HUMAN	Y	38	ENSP00000325239:D38Y	ENSP00000325239:D38Y	D	+	1	0	MYLPF	30294982	1.000000	0.71417	0.952000	0.39060	0.788000	0.44548	9.090000	0.94144	2.481000	0.83766	0.460000	0.39030	GAC		0.607	SEPT1-201	KNOWN	basic	protein_coding	protein_coding		NM_052838		9	45	1	0	2.52707e-12	0.006214	4.21178e-12	9	45				
TXNIP	10628	broad.mit.edu	37	1	145438932	145438932	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:145438932G>A	ENST00000369317.4	+	1	464	c.130G>A	c.(130-132)Gtt>Att	p.V44I	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	44					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTCAAAGCCGTTAGGATCCT	0.542																																						ENST00000369317.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21						c.(130-132)Gtt>Att		thioredoxin interacting protein							157.0	140.0	146.0					1																	145438932		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145438932G>A	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.130G>A	1.37:g.145438932G>A	ENSP00000358323:p.Val44Ile					TXNIP_ENST00000475171.1_Intron	p.V44I	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN			1	464	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		44					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.130G>A	CCDS913.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787419	0.70337	.	.	ENSG00000117289	ENST00000369317	T	0.15372	2.43	5.74	4.81	0.61882	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.125660	0.53938	D	0.000059	T	0.03608	0.0103	N	0.25144	0.715	0.51012	D	0.9999	B	0.14805	0.011	B	0.13407	0.009	T	0.17258	-1.0375	10	0.02654	T	1	-3.9557	14.3604	0.66768	0.0:0.1493:0.8507:0.0	.	44	Q9H3M7	TXNIP_HUMAN	I	44	ENSP00000358323:V44I	ENSP00000358323:V44I	V	+	1	0	TXNIP	144150289	0.999000	0.42202	0.997000	0.53966	0.930000	0.56654	2.089000	0.41672	1.399000	0.46721	0.655000	0.94253	GTT		0.542	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		24	58	0	0	0	0.004656	0	24	58				
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Intron	SNP	T	T	C	rs148754551	byFrequency	TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr20:1585397T>C	ENST00000381605.4	-	1	141				SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381596.1_5'Flank|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000279477.7_Missense_Mutation_p.T248A	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627													t|||	2569	0.512979	0.6967	0.33	5008	,	,		3683	0.4435		0.4473	False		,,,				2504	0.5337					ENST00000279477.7																			5	Substitution - Missense(5)	p.T248A(5)	kidney(3)|prostate(2)	central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(742-744)Acc>Gcc		signal-regulatory protein beta 1							20.0	30.0	27.0					20																	1585397		375	895	1270	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1585397T>C	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+15117A>G	20.37:g.1585397T>C						SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron	p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			3	806	-			248					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.742A>G	CCDS13019.1	757	0.3466117216117216	239	0.48577235772357724	97	0.26795580110497236	219	0.38286713286713286	202	0.26649076517150394	.	0.464	-0.887787	0.02511	.	.	ENSG00000101307	ENST00000279477	T	0.11930	2.73	2.24	-0.597	0.11653	.	.	.	.	.	T	0.00012	0.0000	N	0.20530	0.585	0.47778	P	4.809999999999537E-4	B	0.02656	0.0	B	0.06405	0.002	T	0.45483	-0.9258	8	0.13470	T	0.59	.	3.263	0.06855	0.2055:0.1485:0.0:0.646	.	248	Q5TFQ8	SIRBL_HUMAN	A	248	ENSP00000279477:T248A	ENSP00000279477:T248A	T	-	1	0	SIRPB1	1533397	0.001000	0.12720	0.631000	0.29282	0.161000	0.22273	-0.285000	0.08410	-0.814000	0.04352	-1.120000	0.02017	ACC		0.627	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		5	43	0	0	0	0.000602	0	5	43				
MTR	4548	broad.mit.edu	37	1	237037074	237037074	+	Splice_Site	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:237037074G>A	ENST00000366577.5	+	23	2801	c.2407G>A	c.(2407-2409)Gtt>Att	p.V803I	MTR_ENST00000535889.1_Splice_Site_p.V752I	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	803	B12-binding. {ECO:0000255|PROSITE- ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GTGCCTCAGAGTTATTGATTT	0.353																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.e23-1		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						146.0	133.0	137.0					1																	237037074		2203	4300	6503	SO:0001630	splice_region_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237037074G>A	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2406-1G>A	1.37:g.237037074G>A						MTR_ENST00000535889.1_Splice_Site_p.V752_splice	p.V803_splice	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	23	2801	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	803			B12-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Splice_Site	SNP	ENST00000366577.5	37	c.2405_splice	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771842	0.69992	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	D;D;D	0.81739	-1.53;-1.53;-1.53	5.32	5.32	0.75619	Cobalamin (vitamin B12)-binding (4);	0.000000	0.85682	D	0.000000	T	0.81678	0.4873	L	0.46157	1.445	0.51233	D	0.999914	P;P;P	0.49696	0.927;0.848;0.927	P;P;P	0.54924	0.764;0.665;0.764	T	0.75563	-0.3274	10	0.02654	T	1	-28.2411	19.1899	0.93660	0.0:0.0:1.0:0.0	.	803;752;803	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	I	657;803;752;357	ENSP00000355536:V803I;ENSP00000441845:V752I;ENSP00000355535:V357I	ENSP00000355535:V357I	V	+	1	0	MTR	235103697	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.792000	0.91856	2.760000	0.94817	0.655000	0.94253	GTT		0.353	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254	Missense_Mutation	6	35	0	0	0	0.001984	0	6	35				
HECW1	23072	broad.mit.edu	37	7	43484116	43484116	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr7:43484116A>C	ENST00000395891.2	+	11	1950	c.1345A>C	c.(1345-1347)Atc>Ctc	p.I449L	HECW1_ENST00000453890.1_Missense_Mutation_p.I449L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	449					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCAAAAGGACATCCAGCCTGC	0.642																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(1345-1347)Atc>Ctc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							17.0	21.0	20.0					7																	43484116		2104	4231	6335	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484116A>C	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1345A>C	7.37:g.43484116A>C	ENSP00000379228:p.Ile449Leu					HECW1_ENST00000453890.1_Missense_Mutation_p.I449L	p.I449L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			11	1950	+			449					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.1345A>C	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	A	14.11	2.436769	0.43224	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.28069	1.63;1.66	4.88	-6.83	0.01693	.	5.053600	0.00166	N	0.000000	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12451	-1.0547	10	0.25106	T	0.35	.	4.5069	0.11893	0.2005:0.4113:0.2975:0.0906	.	449;449	B4DH42;Q76N89	.;HECW1_HUMAN	L	449	ENSP00000379228:I449L;ENSP00000407774:I449L	ENSP00000265522:I449L	I	+	1	0	HECW1	43450641	0.000000	0.05858	0.000000	0.03702	0.545000	0.35147	-0.250000	0.08830	-1.142000	0.02869	0.482000	0.46254	ATC		0.642	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		3	20	0	0	0	0.004672	0	3	20				
ZNF180	7733	broad.mit.edu	37	19	44981990	44981990	+	Silent	SNP	A	A	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr19:44981990A>G	ENST00000221327.4	-	5	989	c.708T>C	c.(706-708)caT>caC	p.H236H	ZNF180_ENST00000391956.4_Silent_p.H211H|ZNF180_ENST00000592529.1_Silent_p.H209H|ZNF180_ENST00000585514.1_5'Flank|AC069278.4_ENST00000591684.1_lincRNA	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TAATCTTCTGATGACTGTTTA	0.343																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	ENST00000221327.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(706-708)caT>caC		zinc finger protein 180							84.0	85.0	85.0					19																	44981990		2203	4300	6503	SO:0001819	synonymous_variant	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981990A>G	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.708T>C	19.37:g.44981990A>G						ZNF180_ENST00000592529.1_Silent_p.H209H|ZNF180_ENST00000391956.4_Silent_p.H211H	p.H236H	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN			5	989	-		Prostate(69;0.0435)	236					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Silent	SNP	ENST00000221327.4	37	c.708T>C	CCDS12639.1																																																																																				0.343	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		9	67	0	0	0	0.004482	0	9	67				
GFRA1	2674	broad.mit.edu	37	10	117884861	117884861	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr10:117884861C>T	ENST00000355422.6	-	6	1191	c.641G>A	c.(640-642)tGc>tAc	p.C214Y	GFRA1_ENST00000439649.3_Missense_Mutation_p.C209Y|GFRA1_ENST00000544592.1_Missense_Mutation_p.C93Y|GFRA1_ENST00000369236.1_Missense_Mutation_p.C209Y	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	214					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CCGGCAGGAGCAGAAGAGCAT	0.587																																					Ovarian(128;329 1725 45498 46808 50759)	ENST00000439649.3																			0				endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26						c.(625-627)tGc>tAc		GDNF family receptor alpha 1							86.0	73.0	77.0					10																	117884861		2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117884861C>T	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.641G>A	10.37:g.117884861C>T	ENSP00000347591:p.Cys214Tyr					GFRA1_ENST00000544592.1_Missense_Mutation_p.C93Y|GFRA1_ENST00000369236.1_Missense_Mutation_p.C209Y|GFRA1_ENST00000355422.6_Missense_Mutation_p.C214Y	p.C209Y	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	5	993	-		Lung NSC(174;0.21)	214					A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.626G>A	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	31	5.070520	0.93950	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	D;D	0.89939	-2.59;-2.59	5.85	5.85	0.93711	GDNF/GAS1 (2);	0.094022	0.85682	D	0.000000	D	0.95711	0.8605	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.95743	0.8785	10	0.87932	D	0	-12.4249	20.1775	0.98187	0.0:1.0:0.0:0.0	.	214;209	P56159;P56159-2	GFRA1_HUMAN;.	Y	214;209;209;93;209	ENSP00000358239:C209Y;ENSP00000442179:C93Y	ENSP00000347591:C209Y	C	-	2	0	GFRA1	117874851	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.771000	0.95319	0.561000	0.74099	TGC		0.587	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		9	43	0	0	0	0.006214	0	9	43				
SLC9A9	285195	broad.mit.edu	37	3	142985669	142985669	+	Silent	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr3:142985669G>A	ENST00000316549.6	-	16	2021	c.1813C>T	c.(1813-1815)Cta>Tta	p.L605L		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	605					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCCAGACCTAGCCTTGCAGGA	0.507																																						ENST00000316549.6																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(1813-1815)Cta>Tta		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							175.0	161.0	166.0					3																	142985669		2203	4300	6503	SO:0001819	synonymous_variant	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:142985669G>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1813C>T	3.37:g.142985669G>A							p.L605L	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN			16	2021	-			605					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Silent	SNP	ENST00000316549.6	37	c.1813C>T	CCDS33872.1																																																																																				0.507	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		34	80	0	0	0	0.004289	0	34	80				
GEMIN5	25929	broad.mit.edu	37	5	154296703	154296703	+	Silent	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr5:154296703C>T	ENST00000285873.7	-	13	1785	c.1710G>A	c.(1708-1710)ctG>ctA	p.L570L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	570					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAGTACAGATCAGTTTCAGGT	0.393																																						ENST00000285873.7																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(1708-1710)ctG>ctA		gem (nuclear organelle) associated protein 5							125.0	127.0	126.0					5																	154296703		2203	4300	6503	SO:0001819	synonymous_variant	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154296703C>T	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.1710G>A	5.37:g.154296703C>T							p.L570L	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		13	1785	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	570					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	37	c.1710G>A	CCDS4330.1																																																																																				0.393	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			12	142	0	0	0	0.010729	0	12	142				
MED12	9968	broad.mit.edu	37	X	70339729	70339729	+	Splice_Site	SNP	T	T	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chrX:70339729T>G	ENST00000374080.3	+	3	428		c.e3+2		MED12_ENST00000374102.1_Splice_Site|MED12_ENST00000333646.6_Splice_Site			Q93074	MED12_HUMAN	mediator complex subunit 12						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)			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)					GCCAAAAAGGTAAGGTACTGT	0.512			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				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.e3+2		mediator complex subunit 12							36.0	35.0	35.0					X																	70339729		1991	4156	6147	SO:0001630	splice_region_variant	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:70339729T>G	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.396+2T>G	X.37:g.70339729T>G						MED12_ENST00000374080.3_Splice_Site|MED12_ENST00000374102.1_Splice_Site		NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			3	595	+	Renal(35;0.156)							O15410|O75557|Q9UHV6|Q9UND7	Splice_Site	SNP	ENST00000374080.3	37		CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	18.25	3.583493	0.65992	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000429213;ENST00000430072	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1907	0.73041	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MED12	70256454	1.000000	0.71417	0.990000	0.47175	0.807000	0.45602	7.774000	0.85478	2.038000	0.60285	0.486000	0.48141	.		0.512	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	Intron	4	8	0	0	0	0.009096	0	4	8				
TERF1	7013	broad.mit.edu	37	8	73921394	73921394	+	Silent	SNP	C	C	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr8:73921394C>T	ENST00000276603.5	+	1	296	c.273C>T	c.(271-273)cgC>cgT	p.R91R	TERF1_ENST00000276602.6_Silent_p.R91R	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	91	TRFH dimerization.				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GAGCTTTCCGCGACGGCCGCT	0.716																																						ENST00000276602.6																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(271-273)cgC>cgT		telomeric repeat binding factor (NIMA-interacting) 1							13.0	16.0	15.0					8																	73921394		1965	3891	5856	SO:0001819	synonymous_variant	7013				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding	g.chr8:73921394C>T	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.273C>T	8.37:g.73921394C>T						TERF1_ENST00000276603.5_Silent_p.R91R	p.R91R	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	Epithelial(68;0.0984)		1	296	+	Breast(64;0.218)		91			TRFH dimerization.		A7XP29|Q15553|Q8NHT6|Q93029	Silent	SNP	ENST00000276603.5	37	c.273C>T	CCDS6211.1																																																																																				0.716	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489		13	39	0	0	0	0.001855	0	13	39				
DPY19L2P2	349152	broad.mit.edu	37	7	102912302	102912302	+	RNA	SNP	A	A	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr7:102912302A>G	ENST00000312132.4	-	0	2277							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TCTTGAAGTAAGAATAATAAA	0.269																																						ENST00000312132.4																			0																																																			349152							g.chr7:102912302A>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102912302A>G														0	2277	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.269	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		6	35	0	0	0	0.001168	0	6	35				
LAMC2	3918	broad.mit.edu	37	1	183195980	183195980	+	Missense_Mutation	SNP	C	C	G	rs201614830		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:183195980C>G	ENST00000264144.4	+	9	1279	c.1214C>G	c.(1213-1215)gCg>gGg	p.A405G	LAMC2_ENST00000493293.1_Missense_Mutation_p.A405G	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	405	Laminin EGF-like 4; second part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGAGATTCAGCGAGACTGGGG	0.542																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(1213-1215)gCg>gGg		laminin, gamma 2							181.0	192.0	188.0					1																	183195980		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183195980C>G	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.1214C>G	1.37:g.183195980C>G	ENSP00000264144:p.Ala405Gly					LAMC2_ENST00000493293.1_Missense_Mutation_p.A405G	p.A405G	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			9	1279	+			405			Laminin EGF-like 4; second part.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.1214C>G	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628121	0.66901	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.63417	-0.04;-0.04	5.39	5.39	0.77823	EGF-like, laminin (2);	0.167505	0.40640	N	0.001046	T	0.55705	0.1937	N	0.11724	0.165	0.43342	D	0.995398	P;P;P	0.47350	0.894;0.894;0.841	P;P;P	0.53224	0.721;0.721;0.519	T	0.57289	-0.7837	10	0.37606	T	0.19	.	13.4536	0.61184	0.0:0.9246:0.0:0.0753	.	405;405;405	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	G	405	ENSP00000432063:A405G;ENSP00000264144:A405G	ENSP00000264144:A405G	A	+	2	0	LAMC2	181462603	0.991000	0.36638	0.332000	0.25469	0.475000	0.33008	5.445000	0.66594	2.512000	0.84698	0.549000	0.68633	GCG		0.542	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		16	250	0	0	0	0.006122	0	16	250				
LRP2	4036	broad.mit.edu	37	2	170099522	170099522	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr2:170099522G>A	ENST00000263816.3	-	24	3896	c.3611C>T	c.(3610-3612)aCa>aTa	p.T1204I	LRP2_ENST00000443831.1_Missense_Mutation_p.T1067I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1204	LDL-receptor class A 12. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACAACGATTTGTGACGCCAAT	0.403																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(3610-3612)aCa>aTa		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						147.0	139.0	142.0					2																	170099522		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170099522G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3611C>T	2.37:g.170099522G>A	ENSP00000263816:p.Thr1204Ile					LRP2_ENST00000443831.1_Missense_Mutation_p.T1067I	p.T1204I	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	24	3896	-			1204			LDL-receptor class A 12.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.3611C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	1.422	-0.572509	0.03882	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.95518	-3.73;-3.73	5.76	-2.68	0.06041	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	1.308390	0.04457	N	0.373751	D	0.89787	0.6816	L	0.31926	0.97	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.11329	0.006;0.003	T	0.76822	-0.2817	10	0.27785	T	0.31	.	2.5079	0.04649	0.2415:0.3269:0.3121:0.1195	.	1067;1204	E9PC35;P98164	.;LRP2_HUMAN	I	1204;1067	ENSP00000263816:T1204I;ENSP00000409813:T1067I	ENSP00000263816:T1204I	T	-	2	0	LRP2	169807768	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.163000	0.16520	-0.752000	0.04728	-0.793000	0.03317	ACA		0.403	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		36	74	0	0	0	0.004878	0	36	74				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	21	0	0	0	0.004672	0	3	21				
POMT1	10585	broad.mit.edu	37	9	134386815	134386815	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr9:134386815C>G	ENST00000372228.3	+	10	1192	c.1013C>G	c.(1012-1014)cCc>cGc	p.P338R	POMT1_ENST00000541219.1_Missense_Mutation_p.P94R|POMT1_ENST00000419118.2_Missense_Mutation_p.P164R|POMT1_ENST00000423007.1_Missense_Mutation_p.P316R|POMT1_ENST00000341012.7_Missense_Mutation_p.P262R|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000402686.3_Missense_Mutation_p.P316R|POMT1_ENST00000354713.4_Missense_Mutation_p.P286R|POMT1_ENST00000404875.2_Missense_Mutation_p.P199R	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	338	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AAACCTGTGCCCTGCTGGCTT	0.498																																						ENST00000423007.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31						c.(946-948)cCc>cGc		protein-O-mannosyltransferase 1							128.0	109.0	115.0					9																	134386815		2203	4300	6503	SO:0001583	missense	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134386815C>G	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.1013C>G	9.37:g.134386815C>G	ENSP00000361302:p.Pro338Arg					POMT1_ENST00000541219.1_Missense_Mutation_p.P94R|POMT1_ENST00000402686.3_Missense_Mutation_p.P316R|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000372228.3_Missense_Mutation_p.P338R|POMT1_ENST00000354713.4_Missense_Mutation_p.P286R|POMT1_ENST00000419118.2_Missense_Mutation_p.P164R|POMT1_ENST00000404875.2_Missense_Mutation_p.P199R|POMT1_ENST00000341012.7_Missense_Mutation_p.P262R	p.P316R	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	10	1389	+		Myeloproliferative disorder(178;0.204)	338					B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	c.947C>G	CCDS6943.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598375	0.66332	.	.	ENSG00000130714	ENST00000423007;ENST00000404875;ENST00000341012;ENST00000441334;ENST00000372228;ENST00000402686;ENST00000419118;ENST00000541219;ENST00000354713	D;D;D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.37	5.37	0.77165	MIR motif (2);MIR (1);	0.052758	0.85682	D	0.000000	D	0.85877	0.5799	L	0.45470	1.425	0.58432	D	0.999999	B;P;P;D;P	0.61697	0.274;0.737;0.555;0.99;0.829	B;B;B;P;P	0.59357	0.157;0.374;0.374;0.856;0.578	D	0.85756	0.1346	10	0.48119	T	0.1	-16.5555	13.5538	0.61747	0.1563:0.8437:0.0:0.0	.	41;286;94;338;316	B4DU61;B4DTW4;B4DI80;Q9Y6A1;Q9Y6A1-2	.;.;.;POMT1_HUMAN;.	R	316;199;262;221;338;316;164;94;286	ENSP00000404119:P316R;ENSP00000384531:P199R;ENSP00000343034:P262R;ENSP00000395060:P221R;ENSP00000361302:P338R;ENSP00000385797:P316R;ENSP00000403032:P164R;ENSP00000440895:P94R;ENSP00000346748:P286R	ENSP00000343034:P262R	P	+	2	0	POMT1	133376636	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	5.510000	0.67018	2.505000	0.84491	0.563000	0.77884	CCC		0.498	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		28	92	0	0	0	0.006320	0	28	92				
GDI1	2664	broad.mit.edu	37	X	153667402	153667402	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chrX:153667402T>G	ENST00000447750.2	+	4	639	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	102					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTACCTGGACTTCAAGGTGGT	0.577																																						ENST00000447750.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(304-306)Ttc>Gtc		GDP dissociation inhibitor 1							112.0	98.0	102.0					X																	153667402		2203	4300	6503	SO:0001583	missense	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153667402T>G	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.304T>G	X.37:g.153667402T>G	ENSP00000394071:p.Phe102Val						p.F102V	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN			4	639	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		102					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	ENST00000447750.2	37	c.304T>G	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.047813	0.93740	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	D	0.90563	-2.69	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.96275	0.8785	H	0.94808	3.585	0.80722	D	1	D;D	0.71674	0.993;0.998	D;D	0.78314	0.977;0.991	D	0.96869	0.9638	10	0.87932	D	0	-4.7387	11.7787	0.52001	0.0:0.0:0.0:1.0	.	102;102	B4DH24;P31150	.;GDIA_HUMAN	V	102	ENSP00000394071:F102V	ENSP00000358756:F102V	F	+	1	0	GDI1	153320596	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.032000	0.88838	1.681000	0.50988	0.407000	0.27541	TTC		0.577	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		24	31	0	0	0	0.002780	0	24	31				
LRFN4	78999	broad.mit.edu	37	11	66627262	66627262	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr11:66627262G>T	ENST00000309602.4	+	2	1747	c.1504G>T	c.(1504-1506)Gcc>Tcc	p.A502S	PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	502	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CACGCTGCCGGCCTCGCCCCT	0.692																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(1504-1506)Gcc>Tcc		leucine rich repeat and fibronectin type III domain containing 4							30.0	24.0	26.0					11																	66627262		2190	4286	6476	SO:0001583	missense	78999					integral to membrane		g.chr11:66627262G>T	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.1504G>T	11.37:g.66627262G>T	ENSP00000312535:p.Ala502Ser					LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron	p.A502S	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			2	1747	+			502					Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Missense_Mutation	SNP	ENST00000309602.4	37	c.1504G>T	CCDS8153.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061867	0.36373	.	.	ENSG00000173621	ENST00000309602	T	0.46451	0.87	4.47	4.47	0.54385	.	0.158715	0.29646	N	0.011578	T	0.24547	0.0595	N	0.24115	0.695	0.80722	D	1	B	0.30439	0.279	B	0.30943	0.122	T	0.05500	-1.0881	10	0.10111	T	0.7	.	8.4782	0.33027	0.1079:0.0:0.8921:0.0	.	502	Q6PJG9	LRFN4_HUMAN	S	502	ENSP00000312535:A502S	ENSP00000312535:A502S	A	+	1	0	LRFN4	66383838	0.089000	0.21612	0.359000	0.25824	0.471000	0.32888	2.729000	0.47327	2.062000	0.61559	0.462000	0.41574	GCC		0.692	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		4	11	1	0	0.00024832	0.009096	0.00037248	4	11				
CDK11A	728642	broad.mit.edu	37	1	1650883	1650885	+	In_Frame_Del	DEL	TCT	TCT	-	rs201091435	byFrequency	TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:1650883_1650885delTCT	ENST00000378633.1	-	4	316_318	c.237_239delAGA	c.(235-240)gaagat>gat	p.E79del	CDK11A_ENST00000358779.5_In_Frame_Del_p.E79del|CDK11A_ENST00000357760.2_In_Frame_Del_p.E79del|CDK11A_ENST00000378635.3_In_Frame_Del_p.E79del|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000356200.3_In_Frame_Del_p.E45del|CDK11A_ENST00000378638.2_In_Frame_Del_p.E45del|CDK11A_ENST00000404249.3_In_Frame_Del_p.E79del			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	79	Glu-rich.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CAAAGAATCATCTTCTTCTCCTC	0.394																																					Pancreas(186;965 2119 30274 40311 50569)	ENST00000356200.3																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						c.(133-138)gat>ga		cyclin-dependent kinase 11A																																				SO:0001651	inframe_deletion	728642							g.chr1:1650883_1650885delTCT	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.237_239delAGA	1.37:g.1650889_1650891delTCT	ENSP00000367900:p.Glu79del					CDK11A_ENST00000358779.5_In_Frame_Del_p.ED79del|CDK11A_ENST00000378633.1_In_Frame_Del_p.ED79del|CDK11A_ENST00000378638.2_In_Frame_Del_p.ED45del|CDK11A_ENST00000357760.2_In_Frame_Del_p.ED79del|CDK11A_ENST00000404249.3_In_Frame_Del_p.ED79del|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378635.3_In_Frame_Del_p.ED79del	p.ED45del							3	369_371	-								O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	In_Frame_Del	DEL	ENST00000378633.1	37	c.135_137delAGA																																																																																					0.394	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		21	386						21	386	---	---	---	---
ID3	3399	broad.mit.edu	37	1	23885665	23885665	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr1:23885665delC	ENST00000374561.5	-	1	620	c.253delG	c.(253-255)gccfs	p.A85fs	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	85					central nervous system development (GO:0007417)|epithelial cell differentiation (GO:0030855)|heart development (GO:0007507)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|notochord development (GO:0030903)|odontogenesis (GO:0042476)|positive regulation of apoptotic process (GO:0043065)|regulation of cell cycle (GO:0051726)|regulation of DNA replication (GO:0006275)|response to wounding (GO:0009611)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GCTGGCTCGGCCAGGACTACC	0.632																																						ENST00000374561.5																			0				central_nervous_system(1)|lung(3)	4						c.(253-255)ccfs		inhibitor of DNA binding 3, dominant negative helix-loop-helix protein							49.0	57.0	54.0					1																	23885665		2203	4300	6503	SO:0001589	frameshift_variant	3399				negative regulation of sequence-specific DNA binding transcription factor activity		transcription corepressor activity	g.chr1:23885665delC	X69111	CCDS237.1	1p36.13-p36.12	2013-05-21			ENSG00000117318	ENSG00000117318		"""Basic helix-loop-helix proteins"""	5362	protein-coding gene	gene with protein product		600277				1628620	Standard	NM_002167		Approved	HEIR-1, bHLHb25	uc001bhh.4	Q02535	OTTHUMG00000003229	ENST00000374561.5:c.253delG	1.37:g.23885665delC	ENSP00000363689:p.Ala85fs					ID3_ENST00000486541.1_5'UTR	p.A85fs	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	1	620	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	85					A8K1T8|O75641	Frame_Shift_Del	DEL	ENST00000374561.5	37	c.253delG	CCDS237.1																																																																																				0.632	ID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008904.1	NM_002167		37	86						37	86	---	---	---	---
TBCK	93627	broad.mit.edu	37	4	107092375	107092382	+	Frame_Shift_Del	DEL	AGTCCAAC	AGTCCAAC	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr4:107092375_107092382delAGTCCAAC	ENST00000273980.5	-	24	2552_2559	c.2105_2112delGTTGGACT	c.(2104-2112)tgttggactfs	p.CWT702fs	TBCK_ENST00000361687.4_Frame_Shift_Del_p.CWT639fs|TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000394708.2_Frame_Shift_Del_p.CWT702fs|TBCK_ENST00000432496.2_Frame_Shift_Del_p.CWT702fs|TBCK_ENST00000394706.3_Frame_Shift_Del_p.CWT663fs					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CACTTTTAGGAGTCCAACAAAACAGGTT	0.389																																						ENST00000273980.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(2104-2112)tfs		TBC1 domain containing kinase																																				SO:0001589	frameshift_variant	93627					intracellular	Rab GTPase activator activity	g.chr4:107092375_107092382delAGTCCAAC		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.2105_2112delGTTGGACT	4.37:g.107092375_107092382delAGTCCAAC	ENSP00000273980:p.Cys702fs					TBCK_ENST00000394706.3_Frame_Shift_Del_p.CWT663fs|TBCK_ENST00000361687.4_Frame_Shift_Del_p.CWT639fs|TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000432496.2_Frame_Shift_Del_p.CWT702fs|TBCK_ENST00000394708.2_Frame_Shift_Del_p.CWT702fs	p.CWT702fs			Q8TEA7	TBCK_HUMAN			24	2552_2559	-			702						Frame_Shift_Del	DEL	ENST00000273980.5	37	c.2105_2112delGTTGGACT	CCDS54788.1																																																																																				0.389	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		9	128						9	128	---	---	---	---
FCHSD2	9873	broad.mit.edu	37	11	72696108	72696108	+	Splice_Site	DEL	T	T	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr11:72696108delT	ENST00000409418.4	-	7	958	c.575delA	c.(574-576)aag>ag	p.K192fs	FCHSD2_ENST00000409853.1_Splice_Site_p.K136fs|FCHSD2_ENST00000458644.2_Splice_Site_p.K32fs|FCHSD2_ENST00000409314.1_Splice_Site_p.K192fs|FCHSD2_ENST00000311172.7_Splice_Site_p.K136fs	NM_014824.2	NP_055639.2	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	192										endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			AAAACTTACCTTTACACTTGC	0.289																																						ENST00000409314.1																			0				endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22						c.e7+1		FCH and double SH3 domains 2							41.0	34.0	37.0					11																	72696108		2098	4121	6219	SO:0001630	splice_region_variant	9873						protein binding	g.chr11:72696108delT	AB018312	CCDS8218.2	11q13.3	2008-02-05	2004-04-14	2004-04-16	ENSG00000137478	ENSG00000137478			29114	protein-coding gene	gene with protein product			"""SH3 multiple domains 3"""	SH3MD3		9872452, 15067381	Standard	NM_014824		Approved	KIAA0769	uc009ytl.3	O94868	OTTHUMG00000153082	ENST00000409418.4:c.576+1A>-	11.37:g.72696108delT						FCHSD2_ENST00000311172.7_Splice_Site_p.K136_splice|FCHSD2_ENST00000409853.1_Splice_Site_p.K136_splice|FCHSD2_ENST00000409418.4_Splice_Site_p.K192_splice|FCHSD2_ENST00000458644.2_Splice_Site_p.K32_splice	p.K192_splice			O94868	FCSD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.3e-05)		7	743	-			192					B4DNI3|Q7L8J9|Q8WVM2|Q96FV7|Q9UF77	Splice_Site	DEL	ENST00000409418.4	37	c.576_splice	CCDS8218.2																																																																																				0.289	FCHSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329429.2	NM_014824	Frame_Shift_Del	2	4						2	4	---	---	---	---
RB1	5925	broad.mit.edu	37	13	49039220	49039220	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr13:49039220delA	ENST00000267163.4	+	22	2436	c.2298delA	c.(2296-2298)acafs	p.T766fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	766	Domain B.|Interaction with LIMD1.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(12)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GACTGAAAACAAATATTTTGC	0.338		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		27	Whole gene deletion(15)|Unknown(12)	p.0?(15)|p.?(12)	bone(11)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(2296-2298)acfs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						70.0	72.0	72.0					13																	49039220		2203	4300	6503	SO:0001589	frameshift_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039220delA	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2298delA	13.37:g.49039220delA	ENSP00000267163:p.Thr766fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.T766fs	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	22	2436	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	766			Domain B.|Interaction with LIMD1.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.2298delA	CCDS31973.1																																																																																				0.338	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			13	22						13	22	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88329290	88329290	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr13:88329290delG	ENST00000325089.6	+	2	1866	c.1647delG	c.(1645-1647)ttgfs	p.L549fs	SLITRK5_ENST00000400028.3_Frame_Shift_Del_p.L308fs	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	549					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTGGAGTTTTGGACCAGCTGA	0.537																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1645-1647)ttfs		SLIT and NTRK-like family, member 5							108.0	105.0	106.0					13																	88329290		2203	4300	6503	SO:0001589	frameshift_variant	26050					integral to membrane		g.chr13:88329290delG	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1647delG	13.37:g.88329290delG	ENSP00000366283:p.Leu549fs					SLITRK5_ENST00000400028.3_Frame_Shift_Del_p.L308fs	p.L549fs	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1866	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		549					B3KNB8|B4DSH5|Q5VT81	Frame_Shift_Del	DEL	ENST00000325089.6	37	c.1647delG	CCDS9465.1																																																																																				0.537	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			38	129						38	129	---	---	---	---
IQGAP1	8826	broad.mit.edu	37	15	91040514	91040516	+	In_Frame_Del	DEL	TCG	TCG	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	ad47df84-271c-4782-8b59-c04994915ea0	g.chr15:91040514_91040516delTCG	ENST00000268182.5	+	37	4926_4928	c.4802_4804delTCG	c.(4801-4806)ttcgaa>taa	p.1601_1602FE>*	IQGAP1_ENST00000560738.1_In_Frame_Del_p.1029_1030FE>*	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1601	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTTGGAGACTTCGAAGTGAAAGC	0.345																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(4801-4806)taa>t		IQ motif containing GTPase activating protein 1																																				SO:0001651	inframe_deletion	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91040514_91040516delTCG	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4802_4804delTCG	15.37:g.91040514_91040516delTCG	ENSP00000268182:p.Phe1601_Glu1602delins*					IQGAP1_ENST00000560738.1_In_Frame_Del_p.FE1029del	p.FE1601del	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		37	4926_4928	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1601			C2.		A7MBM3	In_Frame_Del	DEL	ENST00000268182.5	37	c.4802_4804delTCG	CCDS10362.1																																																																																				0.345	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		9	33						9	33	---	---	---	---
CDK11A	728642	broad.mit.edu	37	1	1650883	1650885	+	In_Frame_Del	DEL	TCT	TCT	-	rs201091435	byFrequency	TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:1650883_1650885delTCT	ENST00000378633.1	-	4	316_318	c.237_239delAGA	c.(235-240)gaagat>gat	p.E79del	CDK11A_ENST00000358779.5_In_Frame_Del_p.E79del|CDK11A_ENST00000357760.2_In_Frame_Del_p.E79del|CDK11A_ENST00000378635.3_In_Frame_Del_p.E79del|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000356200.3_In_Frame_Del_p.E45del|CDK11A_ENST00000378638.2_In_Frame_Del_p.E45del|CDK11A_ENST00000404249.3_In_Frame_Del_p.E79del			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	79	Glu-rich.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CAAAGAATCATCTTCTTCTCCTC	0.394																																					Pancreas(186;965 2119 30274 40311 50569)	ENST00000356200.3																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						c.(133-138)gat>ga		cyclin-dependent kinase 11A																																				SO:0001651	inframe_deletion	728642							g.chr1:1650883_1650885delTCT	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.237_239delAGA	1.37:g.1650889_1650891delTCT	ENSP00000367900:p.Glu79del					CDK11A_ENST00000404249.3_In_Frame_Del_p.ED79del|CDK11A_ENST00000378638.2_In_Frame_Del_p.ED45del|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000357760.2_In_Frame_Del_p.ED79del|CDK11A_ENST00000358779.5_In_Frame_Del_p.ED79del|CDK11A_ENST00000378633.1_In_Frame_Del_p.ED79del|CDK11A_ENST00000378635.3_In_Frame_Del_p.ED79del	p.ED45del							3	369_371	-								O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	In_Frame_Del	DEL	ENST00000378633.1	37	c.135_137delAGA																																																																																					0.394	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		21	386						21	386	---	---	---	---
ID3	3399	broad.mit.edu	37	1	23885665	23885665	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:23885665delC	ENST00000374561.5	-	1	620	c.253delG	c.(253-255)gccfs	p.A85fs	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	85					central nervous system development (GO:0007417)|epithelial cell differentiation (GO:0030855)|heart development (GO:0007507)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|notochord development (GO:0030903)|odontogenesis (GO:0042476)|positive regulation of apoptotic process (GO:0043065)|regulation of cell cycle (GO:0051726)|regulation of DNA replication (GO:0006275)|response to wounding (GO:0009611)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GCTGGCTCGGCCAGGACTACC	0.632																																						ENST00000374561.5																			0				central_nervous_system(1)|lung(3)	4						c.(253-255)ccfs		inhibitor of DNA binding 3, dominant negative helix-loop-helix protein							49.0	57.0	54.0					1																	23885665		2203	4300	6503	SO:0001589	frameshift_variant	3399				negative regulation of sequence-specific DNA binding transcription factor activity		transcription corepressor activity	g.chr1:23885665delC	X69111	CCDS237.1	1p36.13-p36.12	2013-05-21			ENSG00000117318	ENSG00000117318		"""Basic helix-loop-helix proteins"""	5362	protein-coding gene	gene with protein product		600277				1628620	Standard	NM_002167		Approved	HEIR-1, bHLHb25	uc001bhh.4	Q02535	OTTHUMG00000003229	ENST00000374561.5:c.253delG	1.37:g.23885665delC	ENSP00000363689:p.Ala85fs					ID3_ENST00000486541.1_5'UTR	p.A85fs	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	1	620	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	85					A8K1T8|O75641	Frame_Shift_Del	DEL	ENST00000374561.5	37	c.253delG	CCDS237.1																																																																																				0.632	ID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008904.1	NM_002167		37	86						37	86	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240255569	240255571	+	In_Frame_Del	DEL	GGC	GGC	-	rs71929261|rs140531536	byFrequency	TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr1:240255569_240255571delGGC	ENST00000319653.9	+	1	390_392	c.160_162delGGC	c.(160-162)ggcdel	p.G59del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	59					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G197delG(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGGGGAgggggcggcggcggcg	0.665														3539	0.706669	0.7821	0.7507	5008	,	,		10143	0.4514		0.7893	False		,,,				2504	0.7515					ENST00000319653.9																			1	Deletion - In frame(1)	p.G197delG(1)	prostate(1)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(160-162)del		formin 2																																				SO:0001651	inframe_deletion	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255569_240255571delGGC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.160_162delGGC	1.37:g.240255578_240255580delGGC	ENSP00000318884:p.Gly59del						p.G59del	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	390_392	+	Ovarian(103;0.127)	all_cancers(173;0.013)	59					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	c.160_162delGGC	CCDS31069.2																																																																																				0.665	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		8	17						8	17	---	---	---	---
TBCK	93627	broad.mit.edu	37	4	107092375	107092382	+	Frame_Shift_Del	DEL	AGTCCAAC	AGTCCAAC	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr4:107092375_107092382delAGTCCAAC	ENST00000273980.5	-	24	2552_2559	c.2105_2112delGTTGGACT	c.(2104-2112)tgttggactfs	p.CWT702fs	TBCK_ENST00000361687.4_Frame_Shift_Del_p.CWT639fs|TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000394708.2_Frame_Shift_Del_p.CWT702fs|TBCK_ENST00000432496.2_Frame_Shift_Del_p.CWT702fs|TBCK_ENST00000394706.3_Frame_Shift_Del_p.CWT663fs					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CACTTTTAGGAGTCCAACAAAACAGGTT	0.389																																						ENST00000273980.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(2104-2112)tfs		TBC1 domain containing kinase																																				SO:0001589	frameshift_variant	93627					intracellular	Rab GTPase activator activity	g.chr4:107092375_107092382delAGTCCAAC		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.2105_2112delGTTGGACT	4.37:g.107092375_107092382delAGTCCAAC	ENSP00000273980:p.Cys702fs					TBCK_ENST00000394708.2_Frame_Shift_Del_p.CWT702fs|TBCK_ENST00000361687.4_Frame_Shift_Del_p.CWT639fs|TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000394706.3_Frame_Shift_Del_p.CWT663fs|TBCK_ENST00000432496.2_Frame_Shift_Del_p.CWT702fs	p.CWT702fs			Q8TEA7	TBCK_HUMAN			24	2552_2559	-			702						Frame_Shift_Del	DEL	ENST00000273980.5	37	c.2105_2112delGTTGGACT	CCDS54788.1																																																																																				0.389	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		9	128						9	128	---	---	---	---
RB1	5925	broad.mit.edu	37	13	49039220	49039220	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr13:49039220delA	ENST00000267163.4	+	22	2436	c.2298delA	c.(2296-2298)acafs	p.T766fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	766	Domain B.|Interaction with LIMD1.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(12)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GACTGAAAACAAATATTTTGC	0.338		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		27	Whole gene deletion(15)|Unknown(12)	p.0?(15)|p.?(12)	bone(11)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(2296-2298)acfs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						70.0	72.0	72.0					13																	49039220		2203	4300	6503	SO:0001589	frameshift_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039220delA	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2298delA	13.37:g.49039220delA	ENSP00000267163:p.Thr766fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.T766fs	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	22	2436	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	766			Domain B.|Interaction with LIMD1.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.2298delA	CCDS31973.1																																																																																				0.338	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			13	22						13	22	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88329290	88329290	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr13:88329290delG	ENST00000325089.6	+	2	1866	c.1647delG	c.(1645-1647)ttgfs	p.L549fs	SLITRK5_ENST00000400028.3_Frame_Shift_Del_p.L308fs	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	549					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTGGAGTTTTGGACCAGCTGA	0.537																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(1645-1647)ttfs		SLIT and NTRK-like family, member 5							108.0	105.0	106.0					13																	88329290		2203	4300	6503	SO:0001589	frameshift_variant	26050					integral to membrane		g.chr13:88329290delG	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1647delG	13.37:g.88329290delG	ENSP00000366283:p.Leu549fs					SLITRK5_ENST00000400028.3_Frame_Shift_Del_p.L308fs	p.L549fs	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	1866	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		549					B3KNB8|B4DSH5|Q5VT81	Frame_Shift_Del	DEL	ENST00000325089.6	37	c.1647delG	CCDS9465.1																																																																																				0.537	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			38	129						38	129	---	---	---	---
IQGAP1	8826	broad.mit.edu	37	15	91040514	91040516	+	In_Frame_Del	DEL	TCG	TCG	-			TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr15:91040514_91040516delTCG	ENST00000268182.5	+	37	4926_4928	c.4802_4804delTCG	c.(4801-4806)ttcgaa>taa	p.1601_1602FE>*	IQGAP1_ENST00000560738.1_In_Frame_Del_p.1029_1030FE>*	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1601	C2.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTTGGAGACTTCGAAGTGAAAGC	0.345																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(4801-4806)taa>t		IQ motif containing GTPase activating protein 1																																				SO:0001651	inframe_deletion	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91040514_91040516delTCG	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.4802_4804delTCG	15.37:g.91040514_91040516delTCG	ENSP00000268182:p.Phe1601_Glu1602delins*					IQGAP1_ENST00000560738.1_In_Frame_Del_p.FE1029del	p.FE1601del	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		37	4926_4928	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1601			C2.		A7MBM3	In_Frame_Del	DEL	ENST00000268182.5	37	c.4802_4804delTCG	CCDS10362.1																																																																																				0.345	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		9	33						9	33	---	---	---	---
NCOR1P1	149934	broad.mit.edu	37	20	26084428	26084428	+	RNA	DEL	C	C	-	rs371146435		TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr20:26084428delC	ENST00000478176.1	-	0	150					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1																		TCTAATGAAACCTTTAGTAGT	0.313																																						ENST00000478176.1																			0																																																			149934							g.chr20:26084428delC	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084428delC								NR_003678.1						0	150	-								A2RUA0	RNA	DEL	ENST00000478176.1	37																																																																																						0.313	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			4	8						4	8	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17131430	17131432	+	lincRNA	DEL	CAC	CAC	-	rs34598386|rs71313627|rs202098224	byFrequency	TCGA-CV-6939-01A-11D-1912-08	TCGA-CV-6939-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2e84cc1-2944-489e-be1b-0018a4e723e4	1f3cdec6-b587-4045-b1af-0d8d2b26ca44	g.chr22:17131430_17131432delCAC	ENST00000426585.1	+	0	2456_2458									transmembrane phosphatase with tensin homology pseudogene 1																		caccatccatcaccaacagaaac	0.443														1332	0.265974	0.0219	0.1614	5008	,	,		23789	0.3542		0.336	False		,,,				2504	0.5072					ENST00000426585.1																			0																																																			387590							g.chr22:17131430_17131432delCAC			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17131430_17131432delCAC														0	2456_2458	+									RNA	DEL	ENST00000426585.1	37																																																																																						0.443	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		3	3						3	3	---	---	---	---
