#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
RIF1	55183	broad.mit.edu	37	2	152311623	152311623	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:152311623A>C	ENST00000243326.5	+	21	3042	c.2559A>C	c.(2557-2559)aaA>aaC	p.K853N	RIF1_ENST00000444746.2_Missense_Mutation_p.K853N|RIF1_ENST00000453091.2_Missense_Mutation_p.K853N|RIF1_ENST00000430328.2_Missense_Mutation_p.K853N|RIF1_ENST00000428287.2_Missense_Mutation_p.K853N			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGATCCGAAAAATATTTGCAA	0.333																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(2557-2559)aaA>aaC		RAP1 interacting factor homolog (yeast)							88.0	87.0	88.0					2																	152311623		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152311623A>C	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.2559A>C	2.37:g.152311623A>C	ENSP00000243326:p.Lys853Asn					RIF1_ENST00000444746.2_Missense_Mutation_p.K853N|RIF1_ENST00000430328.2_Missense_Mutation_p.K853N|RIF1_ENST00000428287.2_Missense_Mutation_p.K853N|RIF1_ENST00000453091.2_Missense_Mutation_p.K853N	p.K853N			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	21	3042	+			853					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.2559A>C	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	15.84	2.952170	0.53293	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	5.55	4.41	0.53225	.	0.285109	0.38381	N	0.001709	T	0.56529	0.1991	L	0.51422	1.61	0.80722	D	1	P;P	0.43352	0.698;0.804	B;B	0.41571	0.142;0.36	T	0.58674	-0.7595	10	0.44086	T	0.13	-12.2067	4.5724	0.12216	0.6236:0.0:0.0865:0.2899	.	853;853	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	N	853	ENSP00000390181:K853N;ENSP00000414615:K853N;ENSP00000415691:K853N;ENSP00000243326:K853N;ENSP00000416123:K853N	ENSP00000243326:K853N	K	+	3	2	RIF1	152019869	0.996000	0.38824	1.000000	0.80357	0.907000	0.53573	0.346000	0.19997	2.110000	0.64415	0.533000	0.62120	AAA		0.333	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			51	57	0	0	0	1	0	51	57				
HMGB2	3148	broad.mit.edu	37	4	174254742	174254742	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr4:174254742A>C	ENST00000296503.5	-	2	932	c.59T>G	c.(58-60)gTg>gGg	p.V20G	HMGB2_ENST00000446922.2_Missense_Mutation_p.V20G|HMGB2_ENST00000438704.2_Missense_Mutation_p.V20G			P26583	HMGB2_HUMAN	high mobility group box 2	20					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GCAGGTCTGCACGAAGAAGGC	0.577																																						ENST00000296503.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(58-60)gTg>gGg		high mobility group box 2							86.0	86.0	86.0					4																	174254742		2203	4300	6503	SO:0001583	missense	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174254742A>C		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.59T>G	4.37:g.174254742A>C	ENSP00000296503:p.Val20Gly					HMGB2_ENST00000438704.2_Missense_Mutation_p.V20G|HMGB2_ENST00000446922.2_Missense_Mutation_p.V20G	p.V20G			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	2	932	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	20					B2R4K8|D3DP37|Q5U072	Missense_Mutation	SNP	ENST00000296503.5	37	c.59T>G	CCDS3816.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.918579	0.73098	.	.	ENSG00000164104	ENST00000296503;ENST00000446922;ENST00000438704;ENST00000506267	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	5.45	4.28	0.50868	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.56097	D	0.000021	T	0.33644	0.0870	M	0.89287	3.02	0.80722	D	1	P	0.40534	0.72	P	0.45639	0.488	T	0.21484	-1.0244	10	0.87932	D	0	.	10.8164	0.46578	0.9251:0.0:0.0749:0.0	.	20	P26583	HMGB2_HUMAN	G	20	ENSP00000296503:V20G;ENSP00000393448:V20G;ENSP00000404912:V20G;ENSP00000423001:V20G	ENSP00000296503:V20G	V	-	2	0	HMGB2	174491317	1.000000	0.71417	1.000000	0.80357	0.245000	0.25701	8.997000	0.93544	0.927000	0.37143	0.460000	0.39030	GTG		0.577	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		6	80	0	0	0	1	0	6	80				
CDC42BPG	55561	broad.mit.edu	37	11	64595069	64595069	+	Silent	SNP	A	A	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr11:64595069A>G	ENST00000342711.5	-	32	4079	c.4080T>C	c.(4078-4080)aaT>aaC	p.N1360N	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						AGCCCTCTGGATTGAGGGGCC	0.677																																						ENST00000342711.5																			0				central_nervous_system(1)|lung(3)	4						c.(4078-4080)aaT>aaC		CDC42 binding protein kinase gamma (DMPK-like)							74.0	72.0	72.0					11																	64595069		2200	4297	6497	SO:0001819	synonymous_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64595069A>G	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.4080T>C	11.37:g.64595069A>G							p.N1360N	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN			32	4079	-			1360			CNH.			Silent	SNP	ENST00000342711.5	37	c.4080T>C	CCDS31601.1																																																																																				0.677	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		5	8	0	0	0	1	0	5	8				
DNAH7	56171	broad.mit.edu	37	2	196756529	196756529	+	Splice_Site	SNP	C	C	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:196756529C>A	ENST00000312428.6	-	31	4997		c.e31-1			NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCATTAGCCCCTTAATGAAAA	0.313																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.e31-1		dynein, axonemal, heavy chain 7							88.0	77.0	80.0					2																	196756529		1803	4066	5869	SO:0001630	splice_region_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196756529C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4897-1G>T	2.37:g.196756529C>A								NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			31	4997	-								B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Splice_Site	SNP	ENST00000312428.6	37		CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931769	0.73442	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7834	0.91944	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH7	196464774	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	2.845000	0.48254	2.770000	0.95276	0.650000	0.86243	.		0.313	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	Intron	4	26	1	0	0.00909568	1	0.00909568	4	26				
FANCI	55215	broad.mit.edu	37	15	89837157	89837157	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr15:89837157A>C	ENST00000310775.7	+	23	2471	c.2385A>C	c.(2383-2385)aaA>aaC	p.K795N	FANCI_ENST00000300027.8_Missense_Mutation_p.K795N	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	795					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CCAAAACTAAAATGGCCAACA	0.363								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2383-2385)aaA>aaC	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I							124.0	115.0	118.0					15																	89837157		2200	4299	6499	SO:0001583	missense	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89837157A>C	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.2385A>C	15.37:g.89837157A>C	ENSP00000310842:p.Lys795Asn					FANCI_ENST00000300027.8_Missense_Mutation_p.K795N	p.K795N	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN			23	2471	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		795					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.2385A>C	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	A	9.484	1.098815	0.20552	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.73152	-0.62;-0.72;0.1	5.72	0.97	0.19692	.	0.229322	0.44285	D	0.000464	T	0.54598	0.1868	L	0.44542	1.39	0.19575	N	0.999968	P;P;P	0.44429	0.835;0.799;0.491	B;B;B	0.42112	0.376;0.222;0.104	T	0.48768	-0.9006	10	0.39692	T	0.17	-21.497	0.7712	0.01024	0.2832:0.1872:0.3091:0.2205	.	795;795;795	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	N	795	ENSP00000300027:K795N;ENSP00000310842:K795N;ENSP00000413249:K795N	ENSP00000300027:K795N	K	+	3	2	FANCI	87638161	0.131000	0.22433	0.023000	0.16930	0.632000	0.37999	1.100000	0.31025	0.134000	0.18681	0.533000	0.62120	AAA		0.363	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		30	68	0	0	0	1	0	30	68				
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	94										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(280-282)Gca>Aca																																						SO:0001583	missense	0							g.chr20:29628278G>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.280G>A	20.37:g.29628278G>A	ENSP00000278882:p.Ala94Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T	p.A94T							6	660	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	g	9.994	1.231660	0.22626	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44083	0.93	2.08	2.08	0.27032	Actin cross-linking (1);	0.286587	0.39083	N	0.001478	T	0.22898	0.0553	.	.	.	0.21290	N	0.99973	B;B	0.12630	0.0;0.006	B;B	0.12156	0.002;0.007	T	0.15407	-1.0438	9	0.16420	T	0.52	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	99;94	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	94;99;94	ENSP00000408863:A99T	ENSP00000278882:A94T	A	+	1	0	FRG1B	28241939	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.196000	0.58407	1.475000	0.48197	0.423000	0.28283	GCA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	155	0	0	0	1	0	4	155				
NPC1L1	29881	broad.mit.edu	37	7	44579885	44579885	+	Silent	SNP	G	G	A	rs143153721		TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr7:44579885G>A	ENST00000289547.4	-	2	166	c.111C>T	c.(109-111)gaC>gaT	p.D37D	NPC1L1_ENST00000381160.3_Silent_p.D37D|NPC1L1_ENST00000546276.1_Silent_p.D37D|NPC1L1_ENST00000423141.1_Silent_p.D37D	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	37					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCCCACATTCGTCATAGAAGG	0.592																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(109-111)gaC>gaT		NPC1-like 1	Ezetimibe(DB00973)	G	,	1,4405	2.1+/-5.4	0,1,2202	83.0	78.0	79.0		111,111	-10.3	0.0	7	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	NPC1L1	NM_001101648.1,NM_013389.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	37/1333,37/1360	44579885	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44579885G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.111C>T	7.37:g.44579885G>A						NPC1L1_ENST00000546276.1_Silent_p.D37D|NPC1L1_ENST00000423141.1_Silent_p.D37D|NPC1L1_ENST00000381160.3_Silent_p.D37D	p.D37D	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			2	166	-			37					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.111C>T	CCDS5491.1																																																																																				0.592	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		18	44	0	0	0	1	0	18	44				
CYLC1	1538	broad.mit.edu	37	X	83126517	83126517	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:83126517A>G	ENST00000329312.4	+	3	153	c.116A>G	c.(115-117)aAa>aGa	p.K39R		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	39					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACATTTCCCAAACCACTCCAG	0.303																																						ENST00000329312.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						c.(115-117)aAa>aGa		cylicin, basic protein of sperm head cytoskeleton 1							66.0	60.0	62.0					X																	83126517		2202	4294	6496	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83126517A>G	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.116A>G	X.37:g.83126517A>G	ENSP00000331556:p.Lys39Arg						p.K39R	NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN			3	153	+			39					A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.116A>G	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	a	16.30	3.083153	0.55861	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.57107	0.42	4.59	4.59	0.56863	.	.	.	.	.	T	0.66076	0.2753	L	0.57536	1.79	0.25225	N	0.989878	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	T	0.56481	-0.7972	9	0.66056	D	0.02	-6.6498	9.3395	0.38071	1.0:0.0:0.0:0.0	.	39;39	P35663;F5H4V5	CYLC1_HUMAN;.	R	39	ENSP00000331556:K39R	ENSP00000331556:K39R	K	+	2	0	CYLC1	83013173	0.998000	0.40836	0.995000	0.50966	0.538000	0.34931	3.411000	0.52672	1.805000	0.52779	0.486000	0.48141	AAA		0.303	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		24	41	0	0	0	1	0	24	41				
FHOD1	29109	broad.mit.edu	37	16	67264350	67264350	+	Missense_Mutation	SNP	A	A	C	rs530863029	byFrequency	TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr16:67264350A>C	ENST00000258201.4	-	19	3165	c.2918T>G	c.(2917-2919)aTc>aGc	p.I973S		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	973	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GAACTGCATGATGCGCACTTC	0.592																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2917-2919)aTc>aGc		formin homology 2 domain containing 1							93.0	90.0	91.0					16																	67264350		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67264350A>C	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2918T>G	16.37:g.67264350A>C	ENSP00000258201:p.Ile973Ser					FHOD1_ENST00000567687.1_Missense_Mutation_p.I552S	p.I973S	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	19	3165	-		Ovarian(137;0.0563)	973			FH2.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.2918T>G	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754542	0.49362	.	.	ENSG00000135723	ENST00000258201	T	0.16743	2.32	5.76	5.76	0.90799	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.182098	0.48286	D	0.000193	T	0.24005	0.0581	L	0.50333	1.59	0.58432	D	0.99999	P	0.41041	0.736	P	0.44921	0.464	T	0.00809	-1.1557	10	0.54805	T	0.06	.	14.8939	0.70630	1.0:0.0:0.0:0.0	.	973	Q9Y613	FHOD1_HUMAN	S	973	ENSP00000258201:I973S	ENSP00000258201:I973S	I	-	2	0	FHOD1	65821851	1.000000	0.71417	0.997000	0.53966	0.044000	0.14063	9.090000	0.94144	2.200000	0.70718	0.459000	0.35465	ATC		0.592	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			23	49	0	0	0	1	0	23	49				
VSIG4	11326	broad.mit.edu	37	X	65247907	65247907	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:65247907T>C	ENST00000374737.4	-	4	850	c.742A>G	c.(742-744)Aca>Gca	p.T248A	VSIG4_ENST00000412866.2_Missense_Mutation_p.T154A|VSIG4_ENST00000455586.2_Missense_Mutation_p.T248A	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	248					complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGGGGTATGTCATGGTTGTA	0.458																																						ENST00000455586.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(742-744)Aca>Gca		V-set and immunoglobulin domain containing 4							223.0	174.0	190.0					X																	65247907		2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65247907T>C	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.742A>G	X.37:g.65247907T>C	ENSP00000363869:p.Thr248Ala					VSIG4_ENST00000412866.2_Missense_Mutation_p.T154A|VSIG4_ENST00000374737.4_Missense_Mutation_p.T248A	p.T248A	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN			4	868	-			248					Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.742A>G	CCDS14383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.093|0.093	-1.164406|-1.164406	0.01673|0.01673	.|.	.|.	ENSG00000155659|ENSG00000155659	ENST00000427538|ENST00000374737;ENST00000455586;ENST00000412866;ENST00000423830	.|T;T;T;T	.|0.47177	.|1.66;1.38;2.18;0.85	4.41|4.41	-0.264|-0.264	0.12950|0.12950	.|.	.|2.071110	.|0.02437	.|N	.|0.084126	T|T	0.30947|0.30947	0.0781|0.0781	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.18610	.|0.009;0.004;0.001;0.002;0.029;0.002	.|B;B;B;B;B;B	.|0.19391	.|0.017;0.004;0.002;0.003;0.025;0.002	T|T	0.19712|0.19712	-1.0297|-1.0297	5|10	.|0.08599	.|T	.|0.76	0.8355|0.8355	10.5234|10.5234	0.44934|0.44934	0.0:0.0:0.2778:0.7222|0.0:0.0:0.2778:0.7222	.|.	.|154;248;171;238;154;248	.|C9J1L3;Q9Y279-2;C9JTJ4;C9JH67;Q9Y279-3;Q9Y279	.|.;.;.;.;.;VSIG4_HUMAN	G|A	174|248;248;154;171	.|ENSP00000363869:T248A;ENSP00000411581:T248A;ENSP00000394143:T154A;ENSP00000414594:T171A	.|ENSP00000363869:T248A	D|T	-|-	2|1	0|0	VSIG4|VSIG4	65164632|65164632	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.013000|0.013000	0.08279|0.08279	-0.609000|-0.609000	0.05635|0.05635	-0.017000|-0.017000	0.14103|0.14103	-0.565000|-0.565000	0.04167|0.04167	GAC|ACA		0.458	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		26	54	0	0	0	1	0	26	54				
ITGAM	3684	broad.mit.edu	37	16	31309175	31309175	+	Missense_Mutation	SNP	C	C	T	rs202010329	byFrequency	TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr16:31309175C>T	ENST00000287497.8	+	14	1682	c.1607C>T	c.(1606-1608)aCg>aTg	p.T536M	ITGAM_ENST00000544665.3_Missense_Mutation_p.T537M			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	536					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GACAAGCTGACGGACGTGGCC	0.622													C|||	2	0.000399361	0.0	0.0	5008	,	,		13808	0.0		0.001	False		,,,				2504	0.001					ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1609-1611)aCg>aTg		integrin, alpha M (complement component 3 receptor 3 subunit)		C	MET/THR,MET/THR	0,4378		0,0,2189	77.0	82.0	80.0		1607,1610	0.7	0.2	16		80	3,8593	3.0+/-9.4	0,3,4295	yes	missense,missense	ITGAM	NM_000632.3,NM_001145808.1	81,81	0,3,6484	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	536/1153,537/1154	31309175	3,12971	2189	4298	6487	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31309175C>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1607C>T	16.37:g.31309175C>T	ENSP00000287497:p.Thr536Met					ITGAM_ENST00000287497.8_Missense_Mutation_p.T536M	p.T537M	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			14	1681	+			536					Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.1610C>T	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422754	0.43020	0.0	3.49E-4	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.05139	3.49;3.49	3.76	0.689	0.18033	.	.	.	.	.	T	0.11922	0.0290	M	0.79475	2.455	0.24354	N	0.99491	D;D	0.58620	0.983;0.983	P;P	0.48227	0.571;0.571	T	0.13845	-1.0494	9	0.51188	T	0.08	.	6.0798	0.19935	0.0:0.664:0.0:0.336	.	536;536	Q4VAK1;P11215	.;ITAM_HUMAN	M	537;536	ENSP00000441691:T537M;ENSP00000287497:T536M	ENSP00000287497:T536M	T	+	2	0	ITGAM	31216676	0.000000	0.05858	0.195000	0.23364	0.998000	0.95712	-0.542000	0.06091	0.066000	0.16515	0.655000	0.94253	ACG		0.622	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		26	50	0	0	0	1	0	26	50				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			3	58	0	0	0	1	0	3	58				
TUBBP5	643224	broad.mit.edu	37	9	141070768	141070768	+	RNA	SNP	C	C	T	rs4609262	byFrequency	TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr9:141070768C>T	ENST00000503395.1	+	0	1543									tubulin, beta pseudogene 5																		GCTGTGACTGCCTGCAGGGTT	0.617																																						ENST00000503395.1																			0																																																			0							g.chr9:141070768C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070768C>T														0	1543	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.617	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		6	17	0	0	0	1	0	6	17				
ARSH	347527	broad.mit.edu	37	X	2933251	2933251	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:2933251G>A	ENST00000381130.2	+	4	581	c.581G>A	c.(580-582)tGg>tAg	p.W194*		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	194					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TCAGTGCCATGGAAGGTCATC	0.498																																						ENST00000381130.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34						c.(580-582)tGg>tAg		arylsulfatase family, member H							202.0	124.0	151.0					X																	2933251		2203	4300	6503	SO:0001587	stop_gained	347527					integral to membrane	arylsulfatase activity|metal ion binding	g.chrX:2933251G>A	AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.581G>A	X.37:g.2933251G>A	ENSP00000370522:p.Trp194*						p.W194*	NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN			4	581	+		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	194						Nonsense_Mutation	SNP	ENST00000381130.2	37	c.581G>A	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408547	0.42715	.	.	ENSG00000205667	ENST00000381130	.	.	.	3.85	3.85	0.44370	.	0.191846	0.35838	U	0.002953	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	15.091	0.72195	0.0:0.0:1.0:0.0	.	.	.	.	X	194	.	ENSP00000370522:W194X	W	+	2	0	ARSH	2943251	0.957000	0.32711	0.145000	0.22337	0.042000	0.13812	2.246000	0.43142	1.543000	0.49345	0.556000	0.70494	TGG		0.498	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719		11	19	0	0	0	1	0	11	19				
ZIC3	7547	broad.mit.edu	37	X	136649636	136649636	+	Silent	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:136649636C>T	ENST00000287538.5	+	1	1336	c.786C>T	c.(784-786)agC>agT	p.S262S	ZIC3_ENST00000370606.3_Silent_p.S262S	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	262					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CTCAGCTGAGCCGGCCCAAGA	0.632																																						ENST00000287538.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37						c.(784-786)agC>agT		Zic family member 3							49.0	47.0	47.0					X																	136649636		2203	4300	6503	SO:0001819	synonymous_variant	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649636C>T	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.786C>T	X.37:g.136649636C>T						ZIC3_ENST00000370606.3_Silent_p.S262S	p.S262S	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN			1	1336	+	Acute lymphoblastic leukemia(192;0.000127)		262					B2CNW4|Q14DE5|Q5JY75	Silent	SNP	ENST00000287538.5	37	c.786C>T	CCDS14663.1																																																																																				0.632	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			39	44	0	0	0	1	0	39	44				
TTN	7273	broad.mit.edu	37	2	179433400	179433400	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:179433400G>A	ENST00000591111.1	-	276	72760	c.72536C>T	c.(72535-72537)cCa>cTa	p.P24179L	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P16880L|TTN_ENST00000460472.2_Missense_Mutation_p.P16755L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P16947L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P25820L|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23252L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24179	Ig-like 121.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGAAATTGGCACTTCTAT	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(77458-77460)cCa>cTa		titin							127.0	115.0	119.0					2																	179433400		1888	4129	6017	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179433400G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72536C>T	2.37:g.179433400G>A	ENSP00000465570:p.Pro24179Leu					TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P16755L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P24179L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23252L|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P16947L|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P16880L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA	p.P25820L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	77683	-			24179			Fibronectin type-III 87.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.77459C>T		.	.	.	.	.	.	.	.	.	.	G	12.96	2.094376	0.36952	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	6.03	6.03	0.97812	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83372	0.5240	M	0.79805	2.47	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.66847	0.947;0.947;0.947;0.947	D	0.84168	0.0432	9	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	16755;16880;16947;24179	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	23252;16755;16947;16880;16753	ENSP00000343764:P23252L;ENSP00000434586:P16755L;ENSP00000340554:P16947L;ENSP00000352154:P16880L	ENSP00000340554:P16947L	P	-	2	0	TTN	179141646	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.686000	0.84128	2.854000	0.98071	0.655000	0.94253	CCA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		32	51	0	0	0	1	0	32	51				
YIPF6	286451	broad.mit.edu	37	X	67751800	67751800	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:67751800T>A	ENST00000462683.1	+	7	1414	c.670T>A	c.(670-672)Ttt>Att	p.F224I	YIPF6_ENST00000374622.2_Missense_Mutation_p.F181I	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	224					intestinal epithelial cell development (GO:0060576)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CCTGTTTTACTTTGTCATCAG	0.403																																						ENST00000462683.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						c.(670-672)Ttt>Att		Yip1 domain family, member 6							190.0	130.0	150.0					X																	67751800		2201	4300	6501	SO:0001583	missense	286451					endoplasmic reticulum|integral to membrane		g.chrX:67751800T>A	BC012469	CCDS14389.1, CCDS56604.1	Xq13.1	2008-02-05			ENSG00000181704	ENSG00000181704		"""Yip1 domain family"""	28304	protein-coding gene	gene with protein product						12477932	Standard	NM_173834		Approved	MGC21416, FinGER6	uc004dwz.3	Q96EC8	OTTHUMG00000021745	ENST00000462683.1:c.670T>A	X.37:g.67751800T>A	ENSP00000417573:p.Phe224Ile					YIPF6_ENST00000374622.2_Missense_Mutation_p.F181I	p.F224I	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN			7	1414	+			224					B4E1U7|G5E997|Q5JP08	Missense_Mutation	SNP	ENST00000462683.1	37	c.670T>A	CCDS14389.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.815501	0.90790	.	.	ENSG00000181704	ENST00000462683;ENST00000451537;ENST00000374622	T;T;T	0.45276	0.9;1.0;1.0	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	L	0.46567	1.45	0.80722	D	1	P;P	0.41546	0.754;0.592	B;B	0.43623	0.425;0.241	T	0.16600	-1.0397	10	0.23891	T	0.37	-12.1441	12.6609	0.56813	0.0:0.0:0.0:1.0	.	181;224	G5E997;Q96EC8	.;YIPF6_HUMAN	I	224;181;181	ENSP00000417573:F224I;ENSP00000401799:F181I;ENSP00000363751:F181I	ENSP00000363751:F181I	F	+	1	0	YIPF6	67668525	1.000000	0.71417	0.942000	0.38095	0.763000	0.43281	7.666000	0.83877	1.897000	0.54924	0.486000	0.48141	TTT		0.403	YIPF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057016.1	NM_173834		6	15	0	0	0	1	0	6	15				
LPA	4018	broad.mit.edu	37	6	161026077	161026077	+	Splice_Site	SNP	C	C	T	rs201480327	byFrequency	TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr6:161026077C>T	ENST00000316300.5	-	18	2990		c.e18+1		LPA_ENST00000447678.1_Splice_Site			P08519	APOA_HUMAN	lipoprotein, Lp(a)						blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.?(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AATAGACATACGCATTTGGGT	0.443													C|||	2	0.000399361	0.0008	0.0	5008	,	,		21437	0.0		0.001	False		,,,				2504	0.0					ENST00000447678.1																			1	Unknown(1)	p.?(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.e19+1		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						294.0	306.0	302.0					6																	161026077		2176	4287	6463	SO:0001630	splice_region_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161026077C>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2945+1G>A	6.37:g.161026077C>T						LPA_ENST00000316300.5_Splice_Site		NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	19	3066	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)						Q5VTD7|Q9UD88	Splice_Site	SNP	ENST00000316300.5	37		CCDS43523.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	5.030	0.191260	0.09547	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.16	2.16	0.27623	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8087	0.29217	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LPA	160946067	1.000000	0.71417	0.979000	0.43373	0.055000	0.15305	2.716000	0.47219	1.212000	0.43366	0.184000	0.17185	.		0.443	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	Intron	5	421	0	0	0	1	0	5	421				
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs201252723	byFrequency	TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373																																						ENST00000453498.1																			0																																																			0							g.chr13:25168432T>C																													13.37:g.25168432T>C														0	1104	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.373	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	32	0	0	0	1	0	3	32				
CDHR1	92211	broad.mit.edu	37	10	85961671	85961671	+	Missense_Mutation	SNP	G	G	A	rs200880106		TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr10:85961671G>A	ENST00000372117.3	+	7	737	c.634G>A	c.(634-636)Gcc>Acc	p.A212T	CDHR1_ENST00000332904.3_Missense_Mutation_p.A212T|CDHR1_ENST00000440770.2_5'UTR	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	212	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.		A -> T. {ECO:0000269|PubMed:16288196}.		cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CACCGTGGTCGCCAAGGTAAC	0.617																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36	GRCh37	CM056677	CDHR1	M		c.(634-636)Gcc>Acc		cadherin-related family member 1		G	THR/ALA,THR/ALA	0,4406		0,0,2203	59.0	65.0	63.0		634,634	5.2	1.0	10		63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CDHR1	NM_001171971.1,NM_033100.2	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	212/746,212/860	85961671	1,13005	2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85961671G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.634G>A	10.37:g.85961671G>A	ENSP00000361189:p.Ala212Thr					CDHR1_ENST00000332904.3_Missense_Mutation_p.A212T|CDHR1_ENST00000440770.2_5'UTR	p.A212T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			7	737	+			212		A -> T.	Cadherin 2.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.634G>A	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112920	0.94339	0.0	1.16E-4	ENSG00000148600	ENST00000332904;ENST00000372117	T;T	0.36878	1.23;1.23	5.16	5.16	0.70880	Cadherin (5);Cadherin-like (1);	0.051920	0.85682	D	0.000000	T	0.70395	0.3219	H	0.95611	3.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68192	0.949;0.956	T	0.80197	-0.1482	10	0.87932	D	0	-26.7635	15.9134	0.79491	0.0:0.0:1.0:0.0	.	212;212	Q96JP9-2;Q96JP9	.;CDHR1_HUMAN	T	212	ENSP00000331063:A212T;ENSP00000361189:A212T	ENSP00000331063:A212T	A	+	1	0	CDHR1	85951651	1.000000	0.71417	0.994000	0.49952	0.774000	0.43823	8.827000	0.92041	2.583000	0.87209	0.655000	0.94253	GCC		0.617	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		8	15	0	0	0	1	0	8	15				
ALOX15	246	broad.mit.edu	37	17	4542424	4542424	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr17:4542424C>T	ENST00000570836.1	-	4	437	c.341G>A	c.(340-342)cGc>cAc	p.R114H	ALOX15_ENST00000574640.1_Missense_Mutation_p.R75H|ALOX15_ENST00000545513.1_Missense_Mutation_p.R136H|ALOX15_ENST00000293761.3_Missense_Mutation_p.R114H			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	114	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R114H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		GCCCACAGTGCGGCCTAGAAG	0.607																																						ENST00000570836.1																			1	Substitution - Missense(1)	p.R114H(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(340-342)cGc>cAc		arachidonate 15-lipoxygenase	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						132.0	127.0	129.0					17																	4542424		2203	4300	6503	SO:0001583	missense	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4542424C>T	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.341G>A	17.37:g.4542424C>T	ENSP00000458832:p.Arg114His					ALOX15_ENST00000293761.3_Missense_Mutation_p.R114H|ALOX15_ENST00000545513.1_Missense_Mutation_p.R136H|ALOX15_ENST00000574640.1_Missense_Mutation_p.R75H	p.R114H			P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	4	437	-			114			PLAT.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	ENST00000570836.1	37	c.341G>A	CCDS11049.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898831	0.52227	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.06849	3.25;3.25	4.22	4.22	0.49857	Lipoxygenase, C-terminal (2);Lipoxygenase, LH2 (1);	0.451250	0.21528	N	0.073084	T	0.23210	0.0561	M	0.69823	2.125	0.09310	N	1	D;D;D	0.76494	0.999;0.993;0.993	P;P;P	0.61397	0.888;0.587;0.587	T	0.01753	-1.1281	10	0.59425	D	0.04	-31.5468	12.2554	0.54621	0.0:1.0:0.0:0.0	.	136;75;114	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	H	114;136	ENSP00000293761:R114H;ENSP00000439855:R136H	ENSP00000293761:R114H	R	-	2	0	ALOX15	4489173	0.004000	0.15560	0.236000	0.24074	0.053000	0.15095	0.842000	0.27627	2.354000	0.79902	0.655000	0.94253	CGC		0.607	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2			4	172	0	0	0	1	0	4	172				
CSTF3	1479	broad.mit.edu	37	11	33108639	33108639	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr11:33108639C>A	ENST00000323959.4	-	18	1829	c.1690G>T	c.(1690-1692)Gct>Tct	p.A564S	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	564	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ATAGAAGGAGCTACAACTGGG	0.433																																						ENST00000323959.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.(1690-1692)Gct>Tct		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							263.0	257.0	259.0					11																	33108639		2202	4298	6500	SO:0001583	missense	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33108639C>A	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1690G>T	11.37:g.33108639C>A	ENSP00000315791:p.Ala564Ser					TCP11L1_ENST00000324357.9_Intron	p.A564S	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN			18	1829	-			564			Pro-rich.		A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	c.1690G>T	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.850394	0.51270	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	.	.	.	5.82	5.82	0.92795	Suppressor of forked (1);	0.049170	0.85682	D	0.000000	T	0.53367	0.1792	L	0.38531	1.155	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.51068	-0.8752	9	0.08837	T	0.75	.	20.0966	0.97849	0.0:1.0:0.0:0.0	.	564	Q12996	CSTF3_HUMAN	S	564;497	.	ENSP00000315791:A564S	A	-	1	0	CSTF3	33065215	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.052000	0.57420	2.751000	0.94390	0.650000	0.86243	GCT		0.433	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	NM_001326		105	155	1	0	5.62818e-54	1	6.06961e-54	105	155				
MYLK3	91807	broad.mit.edu	37	16	46762982	46762982	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr16:46762982A>C	ENST00000394809.4	-	7	1841	c.1726T>G	c.(1726-1728)Tat>Gat	p.Y576D	MYLK3_ENST00000536476.1_Missense_Mutation_p.Y235D	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	576	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AAGGCGTCATAGAGCTGGATC	0.577																																						ENST00000394809.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(1726-1728)Tat>Gat		myosin light chain kinase 3							277.0	227.0	243.0					16																	46762982		2203	4300	6503	SO:0001583	missense	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46762982A>C	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1726T>G	16.37:g.46762982A>C	ENSP00000378288:p.Tyr576Asp					MYLK3_ENST00000536476.1_Missense_Mutation_p.Y235D	p.Y576D	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN			7	1841	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	576			Protein kinase.		B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.1726T>G	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	A	25.6	4.654370	0.88056	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.46063	0.88;0.88	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32548	N	0.005942	T	0.64416	0.2596	M	0.75884	2.315	0.58432	D	0.999998	D;D	0.76494	0.993;0.999	D;D	0.79784	0.924;0.993	T	0.68957	-0.5272	10	0.87932	D	0	.	14.3812	0.66911	1.0:0.0:0.0:0.0	.	576;576	B5BUL9;Q32MK0	.;MYLK3_HUMAN	D	576;235	ENSP00000378288:Y576D;ENSP00000439297:Y235D	ENSP00000378288:Y576D	Y	-	1	0	MYLK3	45320483	1.000000	0.71417	0.989000	0.46669	0.939000	0.58152	8.934000	0.92915	2.049000	0.60858	0.402000	0.26972	TAT		0.577	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		32	88	0	0	0	1	0	32	88				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			26	34	0	0	0	1	0	26	34				
FUCA2	2519	broad.mit.edu	37	6	143818529	143818529	+	Silent	SNP	T	T	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr6:143818529T>G	ENST00000002165.6	-	6	1315	c.1260A>C	c.(1258-1260)acA>acC	p.T420T	RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000438118.2_3'UTR|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	420					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CTCTTACCTCTGTTGCCCCCA	0.388																																						ENST00000002165.5																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1258-1260)acA>acC		fucosidase, alpha-L- 2, plasma							73.0	73.0	73.0					6																	143818529		2203	4300	6503	SO:0001819	synonymous_variant	2519				fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding	g.chr6:143818529T>G	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.1260A>C	6.37:g.143818529T>G						RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000438118.2_3'UTR	p.T420T	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)	6	1315	-			420					E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Silent	SNP	ENST00000002165.6	37	c.1260A>C	CCDS5200.1																																																																																				0.388	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020		19	22	0	0	0	1	0	19	22				
GNAS	2778	broad.mit.edu	37	20	57415667	57415667	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr20:57415667G>A	ENST00000313949.7	+	1	895	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.R169Q|GNAS_ENST00000371075.3_Missense_Mutation_p.R169Q			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTCAAGTTGCGAAGCCCCGAC	0.682			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000313949.7				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(505-507)cGa>cAa		GNAS complex locus							33.0	36.0	35.0					20																	57415667		2203	4299	6502	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415667G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.506G>A	20.37:g.57415667G>A	ENSP00000323571:p.Arg169Gln	TSP Lung(22;0.16)				GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.R169Q|GNAS_ENST00000371098.2_Missense_Mutation_p.R169Q|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA	p.R169Q			P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	895	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000313949.7	37	c.506G>A	CCDS13471.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.39|12.39	1.924857|1.924857	0.34002|0.34002	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000419558|ENST00000313949;ENST00000371098;ENST00000371075;ENST00000453292	.|.	.|.	.|.	4.68|4.68	2.62|2.62	0.31277|0.31277	.|.	.|.	.|.	.|.	.|.	T|T	0.23492|0.23492	0.0568|0.0568	N|N	0.04508|0.04508	-0.205|-0.205	0.80722|0.80722	D|D	1|1	.|B	.|0.15930	.|0.015	.|B	.|0.11329	.|0.006	T|T	0.05818|0.05818	-1.0862|-1.0862	5|8	.|0.16420	.|T	.|0.52	.|.	4.3488|4.3488	0.11146|0.11146	0.3664:0.0:0.6336:0.0|0.3664:0.0:0.6336:0.0	.|.	.|169	.|O95467	.|GNAS3_HUMAN	K|Q	37|169;169;169;90	.|.	.|ENSP00000323571:R169Q	E|R	+|+	1|2	0|0	GNAS|GNAS	56849062|56849062	0.802000|0.802000	0.28943|0.28943	0.828000|0.828000	0.32881|0.32881	0.988000|0.988000	0.76386|0.76386	0.457000|0.457000	0.21875|0.21875	1.145000|1.145000	0.42336|0.42336	0.585000|0.585000	0.79938|0.79938	GAA|CGA		0.682	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		15	12	0	0	0	1	0	15	12				
HNRNPA1	3178	broad.mit.edu	37	12	54676979	54676979	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr12:54676979T>G	ENST00000340913.6	+	8	921	c.868T>G	c.(868-870)Tat>Gat	p.Y290D	RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000546500.1_Intron|HNRNPA1_ENST00000330752.8_Intron|HNRNPA1_ENST00000547276.1_Intron	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	290	Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						CTATGACAGCTATAACAACGG	0.552																																					Colon(83;502 1289 8436 16406 24870)	ENST00000340913.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(868-870)Tat>Gat		heterogeneous nuclear ribonucleoprotein A1							40.0	57.0	51.0					12																	54676979		2027	4161	6188	SO:0001583	missense	3178				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	g.chr12:54676979T>G	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.868T>G	12.37:g.54676979T>G	ENSP00000341826:p.Tyr290Asp					HNRNPA1_ENST00000547276.1_Intron|HNRNPA1_ENST00000330752.8_Intron|HNRNPA1_ENST00000546500.1_Intron|RP11-968A15.8_ENST00000553061.1_RNA	p.Y290D	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN			8	921	+			290			Gly-rich.		A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	c.868T>G	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.915338	0.52546	.	.	ENSG00000135486	ENST00000340913	D	0.86769	-2.17	3.49	3.49	0.39957	.	.	.	.	.	D	0.87593	0.6216	M	0.82132	2.575	0.80722	D	1	P	0.50819	0.939	P	0.45998	0.5	D	0.86596	0.1863	9	0.35671	T	0.21	.	10.6124	0.45429	0.0:0.0:0.0:1.0	.	290	P09651	ROA1_HUMAN	D	290	ENSP00000341826:Y290D	ENSP00000341826:Y290D	Y	+	1	0	HNRNPA1	52963246	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.497000	0.53295	1.837000	0.53436	0.374000	0.22700	TAT		0.552	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		6	12	0	0	0	1	0	6	12				
UTP20	27340	broad.mit.edu	37	12	101720955	101720955	+	Silent	SNP	C	C	T	rs201637301		TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr12:101720955C>T	ENST00000261637.4	+	26	3312	c.3138C>T	c.(3136-3138)gcC>gcT	p.A1046A		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1046					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GGTTCCTGGCCGGGACCCAAC	0.478																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(3136-3138)gcC>gcT		UTP20, small subunit (SSU) processome component, homolog (yeast)							124.0	119.0	121.0					12																	101720955		2203	4300	6503	SO:0001819	synonymous_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101720955C>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.3138C>T	12.37:g.101720955C>T							p.A1046A	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			26	3312	+			1046					Q9H3H4	Silent	SNP	ENST00000261637.4	37	c.3138C>T	CCDS9081.1																																																																																				0.478	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		39	78	0	0	0	1	0	39	78				
DMD	1756	broad.mit.edu	37	X	31241162	31241162	+	Splice_Site	SNP	A	A	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:31241162A>T	ENST00000357033.4	-	64	9568		c.e64+1		DMD_ENST00000378723.3_Splice_Site|DMD_ENST00000378707.3_Splice_Site|DMD_ENST00000378702.4_Splice_Site|DMD_ENST00000378680.2_Splice_Site|DMD_ENST00000361471.4_Splice_Site|DMD_ENST00000541735.1_Splice_Site|DMD_ENST00000474231.1_Splice_Site|DMD_ENST00000378677.2_Splice_Site|DMD_ENST00000359836.1_Splice_Site|DMD_ENST00000343523.2_Splice_Site	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin						cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCCAATACTTACAGCAAAGGG	0.408																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.e64+1		dystrophin							87.0	82.0	84.0					X																	31241162		2202	4300	6502	SO:0001630	splice_region_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31241162A>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.9361+1T>A	X.37:g.31241162A>T						DMD_ENST00000378702.4_Splice_Site|DMD_ENST00000378707.3_Splice_Site|DMD_ENST00000378677.2_Splice_Site|DMD_ENST00000359836.1_Splice_Site|DMD_ENST00000361471.4_Splice_Site|DMD_ENST00000474231.1_Splice_Site|DMD_ENST00000378680.2_Splice_Site|DMD_ENST00000343523.2_Splice_Site|DMD_ENST00000378723.3_Splice_Site|DMD_ENST00000541735.1_Splice_Site		NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			64	9568	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)						E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Splice_Site	SNP	ENST00000357033.4	37		CCDS14233.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.332441	0.60853	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000465285;ENST00000474231;ENST00000361471;ENST00000378680	.	.	.	5.22	4.04	0.47022	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8461	0.41028	0.8441:0.0:0.0:0.1559	.	.	.	.	.	-1	.	.	.	-	.	.	DMD	31151083	1.000000	0.71417	0.983000	0.44433	0.809000	0.45718	7.982000	0.88131	0.645000	0.30675	0.433000	0.28618	.		0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	Intron	41	57	0	0	0	1	0	41	57				
NF1	4763	broad.mit.edu	37	17	29684326	29684326	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr17:29684326C>T	ENST00000358273.4	+	54	8292	c.7909C>T	c.(7909-7911)Cga>Tga	p.R2637*	NF1_ENST00000356175.3_Nonsense_Mutation_p.R2616*|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Nonsense_Mutation_p.R430*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2637					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.R2637*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTTGATCAACGAATTCTTTA	0.368			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(3)|Substitution - Nonsense(1)	p.0?(8)|p.?(3)|p.R2637*(1)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CM950853	NF1	M		c.(7909-7911)Cga>Tga		neurofibromin 1							172.0	164.0	167.0					17																	29684326		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29684326C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7909C>T	17.37:g.29684326C>T	ENSP00000351015:p.Arg2637*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000444181.2_Nonsense_Mutation_p.R430*|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.R2616*	p.R2637*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	54	8292	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2637					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.7909C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	35	5.500338	0.96355	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	.	.	.	5.97	3.93	0.45458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4304	0.67246	0.2695:0.7305:0.0:0.0	.	.	.	.	X	2637;2616;2282;430	.	ENSP00000348498:R2616X	R	+	1	2	NF1	26708452	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	2.543000	0.45752	0.806000	0.34183	-0.282000	0.10007	CGA		0.368	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		34	76	0	0	0	1	0	34	76				
CDC73	79577	broad.mit.edu	37	1	193111044	193111044	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr1:193111044A>G	ENST00000367435.3	+	7	761	c.577A>G	c.(577-579)Aaa>Gaa	p.K193E		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	193					cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TATGGCTAAGAAAAGATCTAC	0.373																																						ENST00000367435.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						c.(577-579)Aaa>Gaa		cell division cycle 73							64.0	58.0	60.0					1																	193111044		2203	4300	6503	SO:0001583	missense	79577				cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr1:193111044A>G	AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.577A>G	1.37:g.193111044A>G	ENSP00000356405:p.Lys193Glu						p.K193E	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN			7	761	+			193					A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	ENST00000367435.3	37	c.577A>G	CCDS1382.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.862753	0.91511	.	.	ENSG00000134371	ENST00000367435;ENST00000445394	D	0.87571	-2.27	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.93115	0.7808	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.92189	0.5758	10	0.34782	T	0.22	-23.5845	16.5582	0.84512	1.0:0.0:0.0:0.0	.	193	Q6P1J9	CDC73_HUMAN	E	193	ENSP00000356405:K193E	ENSP00000356405:K193E	K	+	1	0	CDC73	191377667	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.109000	0.94291	2.308000	0.77769	0.533000	0.62120	AAA		0.373	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529		26	21	0	0	0	1	0	26	21				
EPB41L1	2036	broad.mit.edu	37	20	34776386	34776386	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr20:34776386A>T	ENST00000338074.2	+	9	1152	c.991A>T	c.(991-993)Agg>Tgg	p.R331W	EPB41L1_ENST00000202028.5_Missense_Mutation_p.R269W|EPB41L1_ENST00000373946.3_Missense_Mutation_p.R300W|EPB41L1_ENST00000373950.2_Missense_Mutation_p.R234W|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R331W|EPB41L1_ENST00000441639.1_Missense_Mutation_p.R269W	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	331	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CTCCTACAAGAGGAGTAACTT	0.537																																						ENST00000338074.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						c.(991-993)Agg>Tgg		erythrocyte membrane protein band 4.1-like 1							79.0	70.0	73.0					20																	34776386		2203	4300	6503	SO:0001583	missense	2036				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	g.chr20:34776386A>T	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.991A>T	20.37:g.34776386A>T	ENSP00000337168:p.Arg331Trp					EPB41L1_ENST00000373950.2_Missense_Mutation_p.R234W|EPB41L1_ENST00000373946.3_Missense_Mutation_p.R300W|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R331W|EPB41L1_ENST00000441639.1_Missense_Mutation_p.R269W|EPB41L1_ENST00000202028.5_Missense_Mutation_p.R269W	p.R331W	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN			9	1152	+	Breast(12;0.0239)		331			FERM.		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	c.991A>T	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.523256	0.85600	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941	D;D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82;-1.82	5.45	5.45	0.79879	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	.	.	.	.	D	0.93354	0.7881	M	0.93062	3.375	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;0.996;0.999	D	0.94242	0.7486	9	0.87932	D	0	.	10.4933	0.44762	0.8373:0.1627:0.0:0.0	.	331;331;300;234;234;269	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	W	269;234;331;234;269;300;331;331	ENSP00000202028:R269W;ENSP00000363061:R234W;ENSP00000399214:R269W;ENSP00000363057:R300W;ENSP00000337168:R331W;ENSP00000363052:R331W	ENSP00000202028:R269W	R	+	1	2	EPB41L1	34239800	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.318000	0.79029	2.073000	0.62155	0.459000	0.35465	AGG		0.537	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156		15	30	0	0	0	1	0	15	30				
TAF1	6872	broad.mit.edu	37	X	70607290	70607290	+	Silent	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:70607290G>A	ENST00000373790.4	+	15	2454	c.2403G>A	c.(2401-2403)acG>acA	p.T801T	TAF1_ENST00000449580.1_Silent_p.T801T|TAF1_ENST00000276072.3_Silent_p.T822T|TAF1_ENST00000423759.1_Silent_p.T822T	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	801	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.T801T(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGGCCAATACGCATATTCGAG	0.493																																						ENST00000449580.1																			1	Substitution - coding silent(1)	p.T801T(1)	large_intestine(1)	breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(2401-2403)acG>acA		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							97.0	86.0	90.0					X																	70607290		2203	4300	6503	SO:0001819	synonymous_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70607290G>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2403G>A	X.37:g.70607290G>A						TAF1_ENST00000276072.3_Silent_p.T822T|TAF1_ENST00000373790.4_Silent_p.T801T|TAF1_ENST00000423759.1_Silent_p.T822T	p.T801T			P21675	TAF1_HUMAN			15	2454	+	Renal(35;0.156)	all_lung(315;0.000321)	801					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	c.2403G>A	CCDS35325.1																																																																																				0.493	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		31	56	0	0	0	1	0	31	56				
DNASE1L1	1774	broad.mit.edu	37	X	153631307	153631307	+	Silent	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:153631307C>T	ENST00000393638.1	-	7	1036	c.750G>A	c.(748-750)acG>acA	p.T250T	SNORA70_ENST00000384436.1_RNA|DNASE1L1_ENST00000369809.1_Silent_p.T250T	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	250					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					GCTGGAAGCTCGTGGGGAAGT	0.682																																						ENST00000369809.1																			0				lung(6)	6						c.(748-750)acG>acA		deoxyribonuclease I-like 1							37.0	34.0	35.0					X																	153631307		2203	4299	6502	SO:0001819	synonymous_variant	1774				DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chrX:153631307C>T	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.750G>A	X.37:g.153631307C>T						DNASE1L1_ENST00000393638.1_Silent_p.T250T	p.T250T	NM_001009932.1	NP_001009932.1	P49184	DNSL1_HUMAN			9	1379	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)		250					D3DWW7|Q5HY41	Silent	SNP	ENST00000393638.1	37	c.750G>A	CCDS14747.1																																																																																				0.682	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2			29	31	0	0	0	1	0	29	31				
PTPN23	25930	broad.mit.edu	37	3	47451444	47451444	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr3:47451444G>A	ENST00000265562.4	+	20	2233	c.2156G>A	c.(2155-2157)cGg>cAg	p.R719Q	PTPN23_ENST00000431726.1_Missense_Mutation_p.R593Q	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	719	Pro-rich.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCGCCGCCACGGCCCACAGCC	0.677																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(2155-2157)cGg>cAg		protein tyrosine phosphatase, non-receptor type 23							16.0	19.0	18.0					3																	47451444		2199	4294	6493	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47451444G>A	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.2156G>A	3.37:g.47451444G>A	ENSP00000265562:p.Arg719Gln					PTPN23_ENST00000431726.1_Missense_Mutation_p.R593Q	p.R719Q	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	20	2233	+			719			Pro-rich.		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.2156G>A	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660899	0.67700	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	T	0.02812	4.15	3.77	3.77	0.43336	.	0.328731	0.28236	N	0.016096	T	0.05777	0.0151	L	0.27053	0.805	0.48511	D	0.999664	D;D	0.76494	0.994;0.999	D;P	0.64042	0.921;0.806	T	0.56860	-0.7909	10	0.24483	T	0.36	-26.0252	10.7074	0.45962	0.0:0.1949:0.8051:0.0	.	593;719	B4DST5;Q9H3S7	.;PTN23_HUMAN	Q	684;719	ENSP00000265562:R719Q	ENSP00000265562:R719Q	R	+	2	0	PTPN23	47426448	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	5.820000	0.69250	1.951000	0.56629	0.455000	0.32223	CGG		0.677	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		6	9	0	0	0	1	0	6	9				
BCL9	607	broad.mit.edu	37	1	147092733	147092733	+	Silent	SNP	A	A	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr1:147092733A>G	ENST00000234739.3	+	8	3512	c.2772A>G	c.(2770-2772)ccA>ccG	p.P924P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	924	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TCAAGTCTCCATCACTTCCTG	0.592			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(2770-2772)ccA>ccG		B-cell CLL/lymphoma 9							123.0	120.0	121.0					1																	147092733		2203	4300	6503	SO:0001819	synonymous_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147092733A>G	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2772A>G	1.37:g.147092733A>G							p.P924P	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	3512	+	all_hematologic(923;0.115)		924			Pro-rich.		Q5T489	Silent	SNP	ENST00000234739.3	37	c.2772A>G	CCDS30833.1																																																																																				0.592	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		30	66	0	0	0	1	0	30	66				
SLITRK4	139065	broad.mit.edu	37	X	142716809	142716809	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:142716809C>T	ENST00000381779.4	-	2	2341	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.E706K	SLITRK4_ENST00000338017.4_Missense_Mutation_p.E706K|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E706K	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	706						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AACCCAGTTTCTGACTCTTTC	0.408																																						ENST00000381779.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(2116-2118)Gaa>Aaa		SLIT and NTRK-like family, member 4							85.0	84.0	84.0					X																	142716809		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142716809C>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.2116G>A	X.37:g.142716809C>T	ENSP00000371198:p.Glu706Lys					SLITRK4_ENST00000338017.4_Missense_Mutation_p.E706K|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E706K	p.E706K	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	2341	-	Acute lymphoblastic leukemia(192;6.56e-05)		706					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.2116G>A	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184447	0.57800	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.57595	0.39;0.39;0.39	5.49	5.49	0.81192	.	0.067790	0.64402	U	0.000017	T	0.44787	0.1310	L	0.34521	1.04	0.80722	D	1	B	0.25441	0.126	B	0.22601	0.04	T	0.35176	-0.9799	10	0.46703	T	0.11	-8.2388	16.82	0.85743	0.0:1.0:0.0:0.0	.	706	Q8IW52	SLIK4_HUMAN	K	706	ENSP00000371198:E706K;ENSP00000349400:E706K;ENSP00000336627:E706K	ENSP00000336627:E706K	E	-	1	0	SLITRK4	142544475	1.000000	0.71417	0.904000	0.35570	0.989000	0.77384	7.487000	0.81328	2.288000	0.76882	0.600000	0.82982	GAA		0.408	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		74	113	0	0	0	1	0	74	113				
MC5R	4161	broad.mit.edu	37	18	13826400	13826400	+	Silent	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr18:13826400G>A	ENST00000324750.3	+	1	858	c.636G>A	c.(634-636)gcG>gcA	p.A212A	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	212					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TCCTCCTGGCGCGGACTCACG	0.612																																						ENST00000324750.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(634-636)gcG>gcA		melanocortin 5 receptor							385.0	324.0	345.0					18																	13826400		2203	4300	6503	SO:0001819	synonymous_variant	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826400G>A	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.636G>A	18.37:g.13826400G>A							p.A212A	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN			1	858	+			212					B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	c.636G>A	CCDS11868.1																																																																																				0.612	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		9	593	0	0	0	1	0	9	593				
CCR3	1232	broad.mit.edu	37	3	46307553	46307553	+	Missense_Mutation	SNP	G	G	A	rs139319342	byFrequency	TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr3:46307553G>A	ENST00000357422.2	+	4	1447	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	CCR3_ENST00000395940.2_Missense_Mutation_p.A302T|CCR3_ENST00000395942.2_Missense_Mutation_p.A302T|CCR3_ENST00000541018.1_Missense_Mutation_p.A302T|CCR3_ENST00000545097.1_Missense_Mutation_p.A323T			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	302					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GGTGATCTACGCCTTTGTTGG	0.537													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20261	0.0		0.0	False		,,,				2504	0.0					ENST00000357422.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18						c.(904-906)Gcc>Acc		chemokine (C-C motif) receptor 3							115.0	95.0	102.0					3																	46307553		2203	4300	6503	SO:0001583	missense	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46307553G>A	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.904G>A	3.37:g.46307553G>A	ENSP00000350003:p.Ala302Thr					CCR3_ENST00000545097.1_Missense_Mutation_p.A323T|CCR3_ENST00000395942.2_Missense_Mutation_p.A302T|CCR3_ENST00000395940.2_Missense_Mutation_p.A302T|CCR3_ENST00000541018.1_Missense_Mutation_p.A302T	p.A302T			P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	1447	+			302					B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	c.904G>A	CCDS2738.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.6	4.024598	0.75390	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000017	T	0.66557	0.2801	M	0.91510	3.215	0.46849	D	0.999229	D;D	0.76494	0.999;0.999	D;D	0.72338	0.977;0.95	T	0.73563	-0.3943	10	0.87932	D	0	.	13.1494	0.59480	0.0729:0.0:0.9271:0.0	.	323;302	F5GWL6;P51677	.;CCR3_HUMAN	T	302;323;302;302;302	ENSP00000350003:A302T;ENSP00000441600:A323T;ENSP00000440097:A302T;ENSP00000379271:A302T;ENSP00000379273:A302T	ENSP00000350003:A302T	A	+	1	0	CCR3	46282557	1.000000	0.71417	0.993000	0.49108	0.300000	0.27592	8.058000	0.89460	2.696000	0.92011	0.655000	0.94253	GCC		0.537	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			18	29	0	0	0	1	0	18	29				
RBM15	64783	broad.mit.edu	37	1	110884424	110884424	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr1:110884424T>G	ENST00000369784.3	+	1	3297	c.2397T>G	c.(2395-2397)ttT>ttG	p.F799L	RBM15_ENST00000602849.1_Missense_Mutation_p.F799L|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000487146.2_Missense_Mutation_p.F799L	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	799	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACAGCAACTTTCCTTCCAACA	0.547			T	MKL1	acute megakaryocytic leukemia																																	ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(2395-2397)ttT>ttG		RNA binding motif protein 15							92.0	86.0	88.0					1																	110884424		2203	4300	6503	SO:0001583	missense	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110884424T>G	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2397T>G	1.37:g.110884424T>G	ENSP00000358799:p.Phe799Leu					RBM15_ENST00000487146.2_Missense_Mutation_p.F799L|RBM15_ENST00000602849.1_Missense_Mutation_p.F799L	p.F799L	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	3297	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	799			SPOC.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	c.2397T>G	CCDS822.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.289042	0.59976	.	.	ENSG00000162775	ENST00000369784	T	0.24538	1.85	5.04	0.302	0.15786	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);Spen paralogue and orthologue SPOC, C-terminal (1);	0.000000	0.47852	D	0.000207	T	0.35422	0.0931	M	0.80982	2.52	0.49130	D	0.99975	D;D	0.89917	0.996;1.0	D;D	0.87578	0.971;0.998	T	0.30822	-0.9965	10	0.72032	D	0.01	-8.9066	8.1426	0.31093	0.0:0.4535:0.0:0.5465	.	799;799	Q96T37-3;Q96T37	.;RBM15_HUMAN	L	799	ENSP00000358799:F799L	ENSP00000358799:F799L	F	+	3	2	RBM15	110685947	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.421000	0.21280	0.300000	0.22699	0.533000	0.62120	TTT		0.547	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		4	42	0	0	0	1	0	4	42				
ARSD	414	broad.mit.edu	37	X	2827921	2827921	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:2827921G>A	ENST00000381154.1	-	8	1310	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	412					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATCAGGCTCGTGGGCTCTCC	0.642																																						ENST00000381154.1																			0				large_intestine(3)|lung(3)	6						c.(1234-1236)aCg>aTg		arylsulfatase D							45.0	40.0	42.0					X																	2827921		2203	4300	6503	SO:0001583	missense	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2827921G>A	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.1235C>T	X.37:g.2827921G>A	ENSP00000370546:p.Thr412Met						p.T412M	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN			8	1310	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	412					Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	c.1235C>T	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159125	0.38119	.	.	ENSG00000006756	ENST00000381154;ENST00000458014	D;D	0.94092	-3.35;-3.35	2.98	2.98	0.34508	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.95338	0.8487	M	0.73217	2.22	0.45704	D	0.998611	D	0.89917	1.0	D	0.97110	1.0	D	0.94739	0.7917	10	0.87932	D	0	.	8.9183	0.35596	0.1208:0.0:0.8792:0.0	.	412	P51689	ARSD_HUMAN	M	412;14	ENSP00000370546:T412M;ENSP00000409180:T14M	ENSP00000370546:T412M	T	-	2	0	ARSD	2837921	1.000000	0.71417	0.802000	0.32245	0.015000	0.08874	6.195000	0.72088	1.286000	0.44565	0.436000	0.28706	ACG		0.642	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			18	33	0	0	0	1	0	18	33				
CA1	759	broad.mit.edu	37	8	86249204	86249204	+	Silent	SNP	A	A	G			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr8:86249204A>G	ENST00000523953.1	-	5	1370	c.324T>C	c.(322-324)caT>caC	p.H108H	CA1_ENST00000432364.2_Silent_p.H108H|CA1_ENST00000523022.1_Silent_p.H108H|CA1_ENST00000256119.5_Silent_p.H108H|CA1_ENST00000431316.1_Silent_p.H108H|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000522389.1_Intron|CA1_ENST00000542576.1_Silent_p.H108H			P00915	CAH1_HUMAN	carbonic anhydrase I	108					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	CATCCACTGTATGTTCTGAAC	0.433																																						ENST00000523953.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13						c.(322-324)caT>caC		carbonic anhydrase I	Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)						129.0	119.0	122.0					8																	86249204		2203	4300	6503	SO:0001819	synonymous_variant	759				one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding	g.chr8:86249204A>G	M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"""Carbonic anhydrases"""	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.324T>C	8.37:g.86249204A>G						CA1_ENST00000523022.1_Silent_p.H108H|CA1_ENST00000432364.2_Silent_p.H108H|CA1_ENST00000542576.1_Silent_p.H108H|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000431316.1_Silent_p.H108H|CA1_ENST00000256119.5_Silent_p.H108H|CA1_ENST00000522389.1_Intron	p.H108H			P00915	CAH1_HUMAN			5	1370	-		all_lung(136;4.89e-06)	108						Silent	SNP	ENST00000523953.1	37	c.324T>C	CCDS6237.1	.	.	.	.	.	.	.	.	.	.	A	0.597	-0.830583	0.02734	.	.	ENSG00000133742	ENST00000521679	.	.	.	5.44	2.57	0.30868	.	.	.	.	.	T	0.57080	0.2029	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48293	-0.9048	4	.	.	.	-23.4105	7.8954	0.29704	0.328:0.0:0.672:0.0	.	.	.	.	H	45	.	.	Y	-	1	0	CA1	86436456	1.000000	0.71417	0.659000	0.29680	0.129000	0.20672	0.513000	0.22770	0.260000	0.21731	-0.182000	0.12963	TAC		0.433	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381067.1	NM_001738		4	73	0	0	0	1	0	4	73				
VSNL1	7447	broad.mit.edu	37	2	17836522	17836522	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:17836522C>T	ENST00000406397.1	+	4	962	c.437C>T	c.(436-438)aCg>aTg	p.T146M	VSNL1_ENST00000295156.4_Missense_Mutation_p.T146M|VSNL1_ENST00000404666.2_Missense_Mutation_p.T146M			P62760	VISL1_HUMAN	visinin-like 1	146	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium-mediated signaling (GO:0019722)		calcium ion binding (GO:0005509)			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GATGGCCTGACGCCTGAGCAG	0.428																																						ENST00000406397.1																			0				NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13						c.(436-438)aCg>aTg		visinin-like 1							128.0	112.0	117.0					2																	17836522		2203	4300	6503	SO:0001583	missense	7447						calcium ion binding	g.chr2:17836522C>T		CCDS1689.1	2p24.3	2013-01-10			ENSG00000163032	ENSG00000163032		"""EF-hand domain containing"""	12722	protein-coding gene	gene with protein product	"""hippocalcin-like protein 3"""	600817				8530085, 2202488	Standard	NM_003385		Approved	VILIP, HPCAL3, HUVISL1, HLP3, VILIP-1	uc002rcm.3	P62760	OTTHUMG00000090645	ENST00000406397.1:c.437C>T	2.37:g.17836522C>T	ENSP00000384719:p.Thr146Met					VSNL1_ENST00000404666.2_Missense_Mutation_p.T146M|VSNL1_ENST00000295156.4_Missense_Mutation_p.T146M	p.T146M			P62760	VISL1_HUMAN			4	962	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		146			EF-hand 4.		D6W515|P28677|P29103|P42323|Q9UM20	Missense_Mutation	SNP	ENST00000406397.1	37	c.437C>T	CCDS1689.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957437	0.73902	.	.	ENSG00000163032	ENST00000404666;ENST00000295156;ENST00000406397	T;T;T	0.71934	-0.61;-0.61;-0.61	5.58	4.7	0.59300	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81931	0.4927	M	0.86864	2.845	0.80722	D	1	D	0.58268	0.982	P	0.53912	0.737	D	0.85704	0.1315	10	0.87932	D	0	.	14.395	0.67005	0.0:0.929:0.0:0.071	.	146	P62760	VISL1_HUMAN	M	146	ENSP00000384014:T146M;ENSP00000295156:T146M;ENSP00000384719:T146M	ENSP00000295156:T146M	T	+	2	0	VSNL1	17700003	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.818000	0.86416	1.362000	0.46000	0.650000	0.86243	ACG		0.428	VSNL1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323803.1	NM_003385		36	49	0	0	0	1	0	36	49				
TTC7A	57217	broad.mit.edu	37	2	47222318	47222318	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:47222318C>A	ENST00000319190.5	+	8	1413	c.1045C>A	c.(1045-1047)Ctc>Atc	p.L349I	TTC7A_ENST00000409245.1_Missense_Mutation_p.L315I|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Missense_Mutation_p.L349I|TTC7A_ENST00000263737.6_5'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	349					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCTCCTGCTCCTCCTCATCAG	0.607																																						ENST00000319190.5																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(1045-1047)Ctc>Atc		tetratricopeptide repeat domain 7A							183.0	135.0	151.0					2																	47222318		2203	4300	6503	SO:0001583	missense	57217						binding	g.chr2:47222318C>A	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.1045C>A	2.37:g.47222318C>A	ENSP00000316699:p.Leu349Ile					TTC7A_ENST00000409245.1_Missense_Mutation_p.L315I|TTC7A_ENST00000394850.2_Missense_Mutation_p.L349I|TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000461601.1_3'UTR	p.L349I	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		8	1413	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	349					Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	c.1045C>A	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.264490	0.59431	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000434093	T;T;T	0.65364	0.31;0.34;-0.15	4.67	3.79	0.43588	.	0.077917	0.49916	D	0.000123	T	0.75273	0.3827	M	0.77616	2.38	0.80722	D	1	P;D;D;P;D	0.71674	0.908;0.996;0.984;0.908;0.998	B;P;P;B;D	0.64321	0.184;0.841;0.528;0.32;0.924	T	0.78226	-0.2286	10	0.87932	D	0	-16.5172	10.7556	0.46234	0.0:0.9062:0.0:0.0938	.	349;315;349;177;315	Q2T9J9;B3KPK7;Q9ULT0;Q6P0M3;G5E9G4	.;.;TTC7A_HUMAN;.;.	I	315;349;349;176	ENSP00000386307:L315I;ENSP00000316699:L349I;ENSP00000378320:L349I	ENSP00000316699:L349I	L	+	1	0	TTC7A	47075822	0.997000	0.39634	1.000000	0.80357	0.999000	0.98932	3.312000	0.51927	1.322000	0.45245	0.655000	0.94253	CTC		0.607	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		3	27	1	0	0.00024832	1	0.000252919	3	27				
TNFRSF11B	4982	broad.mit.edu	37	8	119941085	119941085	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr8:119941085T>A	ENST00000297350.4	-	3	862	c.484A>T	c.(484-486)Aaa>Taa	p.K162*		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	162					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TTTGTGTGTTTTCTACAGGGT	0.413																																						ENST00000297350.4																			0				breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25						c.(484-486)Aaa>Taa		tumor necrosis factor receptor superfamily, member 11b							217.0	198.0	204.0					8																	119941085		2203	4300	6503	SO:0001587	stop_gained	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119941085T>A	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.484A>T	8.37:g.119941085T>A	ENSP00000297350:p.Lys162*						p.K162*	NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		3	862	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		162					B2R9A8|O60236|Q53FX6|Q9UHP4	Nonsense_Mutation	SNP	ENST00000297350.4	37	c.484A>T	CCDS6326.1	.	.	.	.	.	.	.	.	.	.	T	40	8.315388	0.98757	.	.	ENSG00000164761	ENST00000297350	.	.	.	5.73	5.73	0.89815	.	0.274574	0.41001	D	0.000963	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-22.6423	11.1215	0.48293	0.0:0.0716:0.0:0.9284	.	.	.	.	X	162	.	.	K	-	1	0	TNFRSF11B	120010266	0.990000	0.36364	1.000000	0.80357	0.994000	0.84299	2.518000	0.45537	2.189000	0.69895	0.528000	0.53228	AAA		0.413	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			61	96	0	0	0	1	0	61	96				
TLR10	81793	broad.mit.edu	37	4	38776169	38776169	+	Missense_Mutation	SNP	G	G	A	rs200661388		TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr4:38776169G>A	ENST00000308973.4	-	4	1648	c.1043C>T	c.(1042-1044)aCg>aTg	p.T348M	TLR10_ENST00000361424.2_Missense_Mutation_p.T348M|TLR10_ENST00000508334.1_Missense_Mutation_p.T348M|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000506111.1_Missense_Mutation_p.T348M	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	348					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TTGGAATTTCGTAGGATAATT	0.333																																						ENST00000308973.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						c.(1042-1044)aCg>aTg		toll-like receptor 10		G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4404		0,0,2202	88.0	91.0	90.0		1043,1043,1043,1001,1043	0.8	0.0	4		90	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense	TLR10	NM_001017388.2,NM_001195106.1,NM_001195107.1,NM_001195108.1,NM_030956.3	81,81,81,81,81	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	348/812,348/812,348/812,334/798,348/812	38776169	2,13002	2202	4300	6502	SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38776169G>A	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1043C>T	4.37:g.38776169G>A	ENSP00000308925:p.Thr348Met					TLR10_ENST00000508334.1_Missense_Mutation_p.T348M|TLR10_ENST00000361424.2_Missense_Mutation_p.T348M|TLR10_ENST00000506111.1_Missense_Mutation_p.T348M	p.T348M	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN			4	1648	-			348					A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.1043C>T	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	G	3.712	-0.059278	0.07317	0.0	2.33E-4	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	4.99	0.793	0.18632	.	0.751284	0.10739	N	0.639705	T	0.16811	0.0404	L	0.36672	1.1	0.09310	N	1	B	0.21309	0.054	B	0.17433	0.018	T	0.33471	-0.9867	10	0.87932	D	0	.	1.5073	0.02489	0.2057:0.2897:0.3624:0.1422	.	348	Q9BXR5	TLR10_HUMAN	M	348	ENSP00000308925:T348M;ENSP00000421483:T348M;ENSP00000354459:T348M;ENSP00000424923:T348M	ENSP00000308925:T348M	T	-	2	0	TLR10	38452564	0.000000	0.05858	0.003000	0.11579	0.317000	0.28152	-0.099000	0.11007	0.099000	0.17552	-0.237000	0.12165	ACG		0.333	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			37	66	0	0	0	1	0	37	66				
FUBP1	8880	broad.mit.edu	37	1	78429794	78429795	+	Frame_Shift_Ins	INS	-	-	TCGG			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr1:78429794_78429795insTCGG	ENST00000370768.2	-	12	1074_1075	c.993_994insCCGA	c.(991-996)cgatgtfs	p.C332fs	FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.C353fs|FUBP1_ENST00000370767.1_Frame_Shift_Ins_p.C332fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	332	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCATGTTGACATCGGTCTGGAG	0.322			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(991-996)cggtcafs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78429794_78429795insTCGG	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.990_993dupCCGA	1.37:g.78429795_78429798dupTCGG	ENSP00000359804:p.Cys332fs					FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.S332fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.S353fs	p.S332fs			Q96AE4	FUBP1_HUMAN			12	1080_1081	-			332			KH 3.		Q12828	Frame_Shift_Ins	INS	ENST00000370768.2	37	c.993_994insCCGA	CCDS683.1																																																																																				0.322	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		92	73						92	73	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128482744	128482745	+	Frame_Shift_Ins	INS	-	-	G	rs536456072	byFrequency	TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr7:128482744_128482745insG	ENST00000325888.8	+	15	2642_2643	c.2381_2382insG	c.(2380-2385)gcggggfs	p.AG794fs	FLNC_ENST00000346177.6_Frame_Shift_Ins_p.AG794fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	794					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGCAGCGAGGCGGGGCAAGGTG	0.688																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(2380-2382)gggfs		filamin C, gamma																																				SO:0001589	frameshift_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128482744_128482745insG	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.2385dupG	7.37:g.128482748_128482748dupG	ENSP00000327145:p.Ala794fs					FLNC_ENST00000346177.6_Frame_Shift_Ins_p.G794fs	p.G794fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			15	2642_2643	+			794					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Frame_Shift_Ins	INS	ENST00000325888.8	37	c.2381_2382insG	CCDS43644.1																																																																																				0.688	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			2	4						2	4	---	---	---	---
NUTM2F	54754	broad.mit.edu	37	9	97080945	97080947	+	In_Frame_Del	DEL	AGA	AGA	-	rs150455117|rs112857574	byFrequency	TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr9:97080945_97080947delAGA	ENST00000253262.4	-	7	2091_2093	c.2071_2073delTCT	c.(2071-2073)tctdel	p.S691del	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	691				Missing (in Ref. 2; AAI30391 and 3; CAB61394). {ECO:0000305}.				p.S557delS(1)									TGCTGGCAGGAGAAGGTGATGGG	0.611														3777	0.754193	0.6051	0.8084	5008	,	,		15297	0.8869		0.7227	False		,,,				2504	0.8129					ENST00000253262.4																			1	Deletion - In frame(1)	p.S557delS(1)	central_nervous_system(1)								c.(2071-2073)del		NUT family member 2F				2288,1260		619,1050,105						-3.0	0.0		dbSNP_134	20	5646,2060		2048,1550,255	no	coding	FAM22F	NM_017561.1		2667,2600,360	A1A1,A1R,RR		26.7324,35.513,29.5006				7934,3320				SO:0001651	inframe_deletion	54754							g.chr9:97080945_97080947delAGA		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.2071_2073delTCT	9.37:g.97080945_97080947delAGA	ENSP00000253262:p.Ser691del					NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del	p.S691del	NM_017561.1	NP_060031.1					7	2091_2093	-								B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	In_Frame_Del	DEL	ENST00000253262.4	37	c.2071_2073delTCT	CCDS47994.1																																																																																				0.611	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		3	4						3	4	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		4	Deletion - In frame(4)	p.F357delF(4)	upper_aerodigestive_tract(2)|central_nervous_system(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1069-1074)tac>t		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413070_139413072delAGA	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1070_1072delTCT	9.37:g.139413070_139413072delAGA	ENSP00000277541:p.Phe357del	HNSCC(8;0.001)					p.FY357del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1145_1147	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	357			EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1070_1072delTCT	CCDS43905.1																																																																																				0.655	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		9	28						9	28	---	---	---	---
EMG1	10436	broad.mit.edu	37	12	7080210	7080211	+	Splice_Site	INS	-	-	G	rs60117710|rs374779752|rs200041551		TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000542912.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		CGGAGGCCGTAGTTTATTGTGG	0.569													GG|G|GG|deletion	5008	1.0	1.0	1.0	5008	,	,		18008	1.0		1.0	False		,,,				2504	1.0					ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3732,16		1865,2,7						3.0	1.0		dbSNP_129	28	7880,30		3934,12,9	no	frameshift	EMG1	NM_006331.7		5799,14,16	A1A1,A1R,RR		0.3793,0.4269,0.3946				11612,46				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080210_7080211insG	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->G	12.37:g.7080211_7080211dupG						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	155_156	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Intron	5	6						5	6	---	---	---	---
RFX4	5992	broad.mit.edu	37	12	107080822	107080823	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr12:107080822_107080823insA	ENST00000392842.1	+	6	952_953	c.538_539insA	c.(538-540)gaafs	p.E180fs	RFX4_ENST00000229387.5_Frame_Shift_Ins_p.E86fs|RFX4_ENST00000357881.4_Frame_Shift_Ins_p.E189fs|RP11-144F15.1_ENST00000551505.1_Intron|RP11-482D24.2_ENST00000547531.1_RNA	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	180					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ACTGCTGCCAGAATTTCCCAAT	0.5																																						ENST00000392842.1																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(538-540)attfs		regulatory factor X, 4 (influences HLA class II expression)																																				SO:0001589	frameshift_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107080822_107080823insA	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.540dupA	12.37:g.107080824_107080824dupA	ENSP00000376585:p.Glu180fs					RFX4_ENST00000229387.5_Frame_Shift_Ins_p.I86fs|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Frame_Shift_Ins_p.I189fs	p.I180fs	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN			6	952_953	+			180					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Frame_Shift_Ins	INS	ENST00000392842.1	37	c.538_539insA	CCDS9106.1																																																																																				0.500	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		85	146						85	146	---	---	---	---
PCCA	5095	broad.mit.edu	37	13	100992463	100992465	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr13:100992463_100992465delATT	ENST00000376285.1	+	18	1631_1633	c.1593_1595delATT	c.(1591-1596)tcattg>tcg	p.L532del	PCCA_ENST00000376279.3_In_Frame_Del_p.L532del|PCCA_ENST00000376286.4_In_Frame_Del_p.L506del	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	532			Missing (in PA-1). {ECO:0000269|PubMed:12559849}.		biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TAGCATCATCATTGTTTGTGGCA	0.33																																						ENST00000376285.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	GRCh37	CD034163	PCCA	D		c.(1591-1596)tcg>tc		propionyl CoA carboxylase, alpha polypeptide	Biotin(DB00121)																																			SO:0001651	inframe_deletion	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100992463_100992465delATT	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1593_1595delATT	13.37:g.100992463_100992465delATT	ENSP00000365462:p.Leu532del					PCCA_ENST00000376286.4_In_Frame_Del_p.SL505del|PCCA_ENST00000376279.3_In_Frame_Del_p.SL531del	p.SL531del	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN			18	1631_1633	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		531					B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	In_Frame_Del	DEL	ENST00000376285.1	37	c.1593_1595delATT	CCDS9496.2																																																																																				0.330	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			37	61						37	61	---	---	---	---
MESP2	145873	broad.mit.edu	37	15	90320135	90320146	+	In_Frame_Del	DEL	GGGCAGGGGCAG	GGGCAGGGGCAG	-	rs56192595|rs28546919|rs200021459|rs199821487	byFrequency	TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr15:90320135_90320146delGGGCAGGGGCAG	ENST00000341735.3	+	1	547_558	c.547_558delGGGCAGGGGCAG	c.(547-558)gggcaggggcagdel	p.GQGQ199del	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	199	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			gcaggggcaagggcaggggcaggggcaggggc	0.783																																						ENST00000341735.3																			1	Deletion - In frame(1)	p.Q198_G205delQGQGQGQG(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(547-558)del		mesoderm posterior 2 homolog (mouse)																																				SO:0001651	inframe_deletion	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320135_90320146delGGGCAGGGGCAG		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.547_558delGGGCAGGGGCAG	15.37:g.90320135_90320146delGGGCAGGGGCAG	ENSP00000342392:p.Gly199_Gln202del					MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	p.GQGQ199del	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	547_558	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		199			13 X 2 AA tandem repeats of G-Q.		Q7RTU2	In_Frame_Del	DEL	ENST00000341735.3	37	c.547_558delGGGCAGGGGCAG	CCDS42078.1																																																																																				0.783	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		4	6						4	6	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42791479	42791480	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr19:42791479_42791480insC	ENST00000575354.2	+	4	500_501	c.460_461insC	c.(460-462)tccfs	p.S154fs	CIC_ENST00000160740.3_Frame_Shift_Ins_p.S154fs|CIC_ENST00000572681.2_Frame_Shift_Ins_p.S1063fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	154					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGCTTCCTCTCCATCATGTCT	0.609			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3187-3189)catfs		capicua transcriptional repressor																																				SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791479_42791480insC	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.462dupC	19.37:g.42791481_42791481dupC	ENSP00000458663:p.Ser154fs					CIC_ENST00000575354.2_Frame_Shift_Ins_p.H154fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.H154fs	p.H1063fs			Q96RK0	CIC_HUMAN			5	3255_3256	+		Prostate(69;0.00682)	154			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Ins	INS	ENST00000575354.2	37	c.3187_3188insC	CCDS12601.1																																																																																				0.609	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			21	20						21	20	---	---	---	---
GLTSCR1	29998	broad.mit.edu	37	19	48204938	48204938	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr19:48204938delG	ENST00000396720.3	+	15	4143	c.3949delG	c.(3949-3951)gggfs	p.G1317fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1317										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCAGGAAGCCGGGCTCAGCAA	0.721																																						ENST00000396720.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(3949-3951)ggfs		glioma tumor suppressor candidate region gene 1							7.0	9.0	9.0					19																	48204938		1893	4063	5956	SO:0001589	frameshift_variant	29998						protein binding	g.chr19:48204938delG	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.3949delG	19.37:g.48204938delG	ENSP00000379946:p.Gly1317fs					CTD-2571L23.8_ENST00000599924.1_lincRNA	p.G1317fs	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	15	4143	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	1317					A8MW01	Frame_Shift_Del	DEL	ENST00000396720.3	37	c.3949delG	CCDS46134.1																																																																																				0.721	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		2	4						2	4	---	---	---	---
