#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
SP140	11262	broad.mit.edu	37	2	231159004	231159004	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:231159004C>T	ENST00000392045.3	+	21	2101	c.1987C>T	c.(1987-1989)Cct>Tct	p.P663S	SP140_ENST00000417495.3_Missense_Mutation_p.P549S|SP140_ENST00000350136.5_Missense_Mutation_p.P532S|SP140_ENST00000486687.2_Missense_Mutation_p.P587S|SP140_ENST00000343805.6_Missense_Mutation_p.P603S|SP140_ENST00000420434.3_Missense_Mutation_p.P636S	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	663					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P663S(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCTGCCTGATCCTCCAAGAAT	0.363																																						ENST00000392045.3																			1	Substitution - Missense(1)	p.P663S(1)	lung(1)	NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(1987-1989)Cct>Tct		SP140 nuclear body protein							135.0	134.0	134.0					2																	231159004		1870	4108	5978	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231159004C>T	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1987C>T	2.37:g.231159004C>T	ENSP00000375899:p.Pro663Ser					SP140_ENST00000350136.5_Missense_Mutation_p.P532S|SP140_ENST00000486687.2_Missense_Mutation_p.P587S|SP140_ENST00000417495.3_Missense_Mutation_p.P549S|SP140_ENST00000343805.6_Missense_Mutation_p.P603S|SP140_ENST00000420434.3_Missense_Mutation_p.P636S	p.P663S	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	21	2101	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	663					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.1987C>T	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156451	0.38119	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	3.4	3.4	0.38934	SAND domain-like (2);	.	.	.	.	T	0.71264	0.3319	M	0.63843	1.955	0.09310	N	1	P;D;D;P	0.61697	0.659;0.982;0.99;0.799	B;P;P;B	0.58721	0.401;0.61;0.844;0.169	T	0.61098	-0.7131	9	0.87932	D	0	-10.8535	11.066	0.47976	0.0:1.0:0.0:0.0	.	636;549;603;663	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	S	587;532;663;549;603;636	ENSP00000440107:P587S;ENSP00000345846:P532S;ENSP00000375899:P663S;ENSP00000342096:P603S;ENSP00000398210:P636S	ENSP00000342096:P603S	P	+	1	0	SP140	230867248	0.001000	0.12720	0.024000	0.17045	0.051000	0.14879	0.950000	0.29122	1.877000	0.54381	0.449000	0.29647	CCT		0.363	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		7	89	0	0	0	1	0	7	89				
TNXB	7148	broad.mit.edu	37	6	32050096	32050096	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:32050096C>G	ENST00000375244.3	-	9	3654	c.3453G>C	c.(3451-3453)caG>caC	p.Q1151H	TNXB_ENST00000375247.2_Missense_Mutation_p.Q1151H			P22105	TENX_HUMAN	tenascin XB	1238	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TTGGGTCACTCTGAGGCACTA	0.572																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(3451-3453)caG>caC		tenascin XB							140.0	110.0	120.0					6																	32050096		1285	2566	3851	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32050096C>G	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3453G>C	6.37:g.32050096C>G	ENSP00000364393:p.Gln1151His					TNXB_ENST00000375247.2_Missense_Mutation_p.Q1151H	p.Q1151H			P22105	TENX_HUMAN			9	3654	-			1238			Fibronectin type-III 4.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.3453G>C		.	.	.	.	.	.	.	.	.	.	C	15.95	2.983170	0.53827	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.55052	0.54;0.54	4.32	-0.182	0.13287	.	1.144440	0.06615	N	0.756302	T	0.32526	0.0832	L	0.46157	1.445	0.09310	N	1	P	0.41214	0.742	P	0.46110	0.504	T	0.34329	-0.9833	10	0.45353	T	0.12	.	7.7425	0.28849	0.2872:0.4311:0.2816:0.0	.	1151	P22105-3	.	H	1151	ENSP00000364393:Q1151H;ENSP00000364396:Q1151H	ENSP00000364393:Q1151H	Q	-	3	2	TNXB	32158074	0.064000	0.20934	0.008000	0.14137	0.694000	0.40290	2.117000	0.41939	0.133000	0.18654	0.407000	0.27541	CAG		0.572	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		9	94	0	0	0	1	0	9	94				
TPO	7173	broad.mit.edu	37	2	1437283	1437283	+	Missense_Mutation	SNP	G	G	A	rs139292269		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:1437283G>A	ENST00000345913.4	+	4	344	c.253G>A	c.(253-255)Gga>Aga	p.G85R	TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.G85R|TPO_ENST00000539820.1_Missense_Mutation_p.G85R|TPO_ENST00000346956.3_Missense_Mutation_p.G85R|TPO_ENST00000382198.1_Missense_Mutation_p.G85R|TPO_ENST00000337415.3_Missense_Mutation_p.G85R|TPO_ENST00000329066.4_Missense_Mutation_p.G85R|TPO_ENST00000382269.3_Missense_Mutation_p.G85R|TPO_ENST00000382201.3_Missense_Mutation_p.G85R	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	85					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCCAACAAGCGGAGTGATTGC	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		19379	0.001		0.0	False		,,,				2504	0.0					ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(253-255)Gga>Aga		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	G	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	2,4404	6.2+/-15.9	0,2,2201	113.0	106.0	108.0		253,253,253,253,253,253	1.4	0.0	2	dbSNP_134	108	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	125,125,125,125,125,125	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign,benign,benign,benign,benign	85/934,85/934,85/877,85/877,85/890,85/761	1437283	2,13004	2203	4300	6503	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1437283G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.253G>A	2.37:g.1437283G>A	ENSP00000318820:p.Gly85Arg					TPO_ENST00000349624.3_Missense_Mutation_p.G85R|TPO_ENST00000382201.3_Missense_Mutation_p.G85R|TPO_ENST00000382269.3_Missense_Mutation_p.G85R|TPO_ENST00000539820.1_Missense_Mutation_p.G85R|TPO_ENST00000337415.3_Missense_Mutation_p.G85R|TPO_ENST00000346956.3_Missense_Mutation_p.G85R|TPO_ENST00000382198.1_Missense_Mutation_p.G85R|TPO_ENST00000329066.4_Missense_Mutation_p.G85R|TPO_ENST00000497517.2_Intron	p.G85R	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	4	344	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	85					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.253G>A	CCDS1643.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0	-2.606178	0.00121	4.54E-4	0.0	ENSG00000115705	ENST00000382269;ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000539820;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	4.26	1.4	0.22301	.	0.545685	0.18888	N	0.128381	T	0.14184	0.0343	N	0.00841	-1.15	0.09310	N	1	B;B;B;B;B	0.15473	0.002;0.003;0.013;0.005;0.001	B;B;B;B;B	0.12837	0.003;0.001;0.008;0.004;0.001	T	0.30736	-0.9968	10	0.02654	T	1	-1.1362	3.159	0.06514	0.1457:0.5212:0.225:0.1081	.	85;85;85;85;85	P07202-4;P07202-5;E9PFM6;P07202-2;P07202	.;.;.;.;PERT_HUMAN	R	85;85;85;85;85;85;85;85;85;85;14	ENSP00000371704:G85R;ENSP00000337263:G85R;ENSP00000318820:G85R;ENSP00000263886:G85R;ENSP00000332044:G85R;ENSP00000444840:G85R;ENSP00000329869:G85R;ENSP00000371636:G85R;ENSP00000390994:G85R;ENSP00000371633:G85R;ENSP00000405788:G14R	ENSP00000329869:G85R	G	+	1	0	TPO	1416290	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.417000	0.21214	0.044000	0.15775	0.563000	0.77884	GGA		0.408	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		12	89	0	0	0	1	0	12	89				
USP40	55230	broad.mit.edu	37	2	234457817	234457817	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:234457817C>G	ENST00000427112.2	-	7	931	c.896G>C	c.(895-897)gGt>gCt	p.G299A	USP40_ENST00000251722.6_Missense_Mutation_p.G299A|USP40_ENST00000450966.1_Missense_Mutation_p.G311A			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	299	USP.			CEQSELDDLEYIYDLFSVIIHKGGCYGGHYHVYIKDVDHLG N -> FFSFNQKMHNVCVNRRYGGSGMPLLRCGRCVGSAQP LSSVFR (in Ref. 4; AAH67300). {ECO:0000305}.	ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GTAGCAGCCACCTTTGTGTAT	0.303																																						ENST00000251722.6																			0				breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(895-897)gGt>gCt		ubiquitin specific peptidase 40							36.0	35.0	36.0					2																	234457817		1803	4064	5867	SO:0001583	missense	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234457817C>G	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.896G>C	2.37:g.234457817C>G	ENSP00000387898:p.Gly299Ala					USP40_ENST00000427112.2_Missense_Mutation_p.G299A|USP40_ENST00000450966.1_Missense_Mutation_p.G311A	p.G299A			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	8	1013	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	299	CEQSELDDLEYIYDLFSVIIHKGGCYGGHYHVYIKDVDHLG N -> FFSFNQKMHNVCVNRRYGGSGMPLLRCGRCVGSAQP LSSVFR (in Ref. 4; AAH67300).				Q6NX38|Q70EL0	Missense_Mutation	SNP	ENST00000427112.2	37	c.896G>C	CCDS46547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.763165|4.763165	0.89932|0.89932	.|.	.|.	ENSG00000085982|ENSG00000085982	ENST00000450966;ENST00000251722;ENST00000427112|ENST00000435959	T;T;T|.	0.62788|.	-0.0;-0.0;-0.0|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.290968|.	0.39341|.	N|.	0.001392|.	D|D	0.90191|0.90191	0.6934|0.6934	H|H	0.97291|0.97291	3.975|3.975	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.91873|0.91873	0.5509|0.5509	10|6	0.87932|0.41790	D|T	0|0.15	.|.	19.4254|19.4254	0.94740|0.94740	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	311|.	Q9NVE5-3|.	.|.	A|L	311;299;299|298	ENSP00000415434:G311A;ENSP00000251722:G299A;ENSP00000387898:G299A|.	ENSP00000251722:G299A|ENSP00000398914:V298L	G|V	-|-	2|1	0|0	USP40|USP40	234122556|234122556	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.759000|7.759000	0.85235|0.85235	2.598000|2.598000	0.87819|0.87819	0.484000|0.484000	0.47621|0.47621	GGT|GTG		0.303	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294		3	22	0	0	0	1	0	3	22				
ZAN	7455	broad.mit.edu	37	7	100366335	100366335	+	RNA	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:100366335C>T	ENST00000348028.3	+	0	5309				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCTGAATCCTCTGAACCTGGG	0.622																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							15.0	16.0	15.0					7																	100366335		1874	4092	5966			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100366335C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100366335C>T						ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5292	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	22.2	4.262355	0.80358	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.25085	2.32;2.32;2.28;1.82	4.62	2.63	0.31362	von Willebrand factor, type D domain (1);	0.340957	0.21689	N	0.070603	T	0.38904	0.1058	L	0.52905	1.665	0.22305	N	0.999216	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.97	T	0.05273	-1.0895	10	0.56958	D	0.05	.	5.6053	0.17377	0.0:0.6893:0.2022:0.1085	.	1715;1715	F5H0T8;Q9Y493	.;ZAN_HUMAN	F	1715;1715;1715;292	ENSP00000445943:S1715F;ENSP00000445091:S1715F;ENSP00000444427:S1715F;ENSP00000441117:S292F	ENSP00000423579:S1715F	S	+	2	0	ZAN	100204271	0.204000	0.23447	0.880000	0.34516	0.835000	0.47333	1.130000	0.31393	1.261000	0.44149	0.655000	0.94253	TCT		0.622	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		3	13	0	0	0	1	0	3	13				
XIAP	331	broad.mit.edu	37	X	123019598	123019598	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:123019598G>C	ENST00000371199.3	+	2	385	c.86G>C	c.(85-87)aGa>aCa	p.R29T	XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Missense_Mutation_p.R29T|XIAP_ENST00000355640.3_Missense_Mutation_p.R29T	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	29					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						GAGTTTAATAGATTAAAAACT	0.368									X-linked Lymphoproliferative syndrome																													ENST00000371199.3																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						c.(85-87)aGa>aCa		X-linked inhibitor of apoptosis							68.0	72.0	70.0					X																	123019598		2201	4300	6501	SO:0001583	missense	331	X-linked Lymphoproliferative syndrome	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding	g.chrX:123019598G>C	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.86G>C	X.37:g.123019598G>C	ENSP00000360242:p.Arg29Thr					XIAP_ENST00000434753.3_Missense_Mutation_p.R29T|XIAP_ENST00000468691.1_Intron|XIAP_ENST00000355640.3_Missense_Mutation_p.R29T	p.R29T	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN			2	385	+			29					D3DTF2|Q9NQ14	Missense_Mutation	SNP	ENST00000371199.3	37	c.86G>C	CCDS14606.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047153	0.75846	.	.	ENSG00000101966	ENST00000434753;ENST00000430625;ENST00000371199;ENST00000355640	D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96	5.81	5.81	0.92471	Baculoviral inhibition of apoptosis protein repeat (5);	0.000000	0.85682	D	0.000000	D	0.99127	0.9699	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98888	1.0772	9	.	.	.	-9.0355	19.1018	0.93276	0.0:0.0:1.0:0.0	.	29	P98170	XIAP_HUMAN	T	29	ENSP00000395230:R29T;ENSP00000400637:R29T;ENSP00000360242:R29T;ENSP00000347858:R29T	.	R	+	2	0	XIAP	122847279	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.952000	0.87827	2.461000	0.83175	0.508000	0.49915	AGA		0.368	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058165.5	NM_001167		42	139	0	0	0	1	0	42	139				
PNMA1	9240	broad.mit.edu	37	14	74180338	74180338	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:74180338G>A	ENST00000316836.3	-	1	790	c.5C>T	c.(4-6)gCg>gTg	p.A2V		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	2					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		cagtgtcatcgccattttctc	0.522																																						ENST00000316836.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13						c.(4-6)gCg>gTg		paraneoplastic Ma antigen 1							78.0	85.0	83.0					14																	74180338		2203	4300	6503	SO:0001583	missense	9240				apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding	g.chr14:74180338G>A	AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"""Paraneoplastic Ma antigens"""	9158	protein-coding gene	gene with protein product		604010	"""paraneoplastic antigen MA1"""			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.5C>T	14.37:g.74180338G>A	ENSP00000318914:p.Ala2Val						p.A2V	NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)	1	790	-			2					A8K4L5|O95144|Q8NG07	Missense_Mutation	SNP	ENST00000316836.3	37	c.5C>T	CCDS9818.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189435	0.78789	.	.	ENSG00000176903	ENST00000316836	T	0.16073	2.37	3.8	3.8	0.43715	.	0.000000	0.45126	D	0.000387	T	0.29223	0.0727	L	0.49571	1.57	0.37625	D	0.921468	D	0.71674	0.998	P	0.59595	0.86	T	0.10683	-1.0619	10	0.72032	D	0.01	-0.4434	11.4691	0.50257	0.0:0.0:1.0:0.0	.	2	Q8ND90	PNMA1_HUMAN	V	2	ENSP00000318914:A2V	ENSP00000318914:A2V	A	-	2	0	PNMA1	73250091	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.773000	0.55333	2.421000	0.82119	0.655000	0.94253	GCG		0.522	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1	NM_006029		4	106	0	0	0	1	0	4	106				
PPP1R3C	5507	broad.mit.edu	37	10	93389933	93389933	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr10:93389933G>T	ENST00000238994.5	-	2	789	c.705C>A	c.(703-705)tgC>tgA	p.C235*		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C											breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				GGTAAGAAATGCAGAACTCAA	0.408																																						ENST00000238994.5																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12						c.(703-705)tgC>tgA		protein phosphatase 1, regulatory subunit 3C							99.0	92.0	94.0					10																	93389933		2203	4300	6503	SO:0001587	stop_gained	5507						protein serine/threonine phosphatase activity	g.chr10:93389933G>T	Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9293	protein-coding gene	gene with protein product	"""Phosphatase 1, regulatory inhibitor subunit 5"", ""protein targeting to glycogen"""	602999	"""protein phosphatase 1, regulatory (inhibitor) subunit 3C"""	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.705C>A	10.37:g.93389933G>T	ENSP00000238994:p.Cys235*						p.C235*	NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN			2	789	-		Colorectal(252;0.235)	235			CBM21.|Interaction with EPM2A.			Nonsense_Mutation	SNP	ENST00000238994.5	37	c.705C>A	CCDS7416.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436291	0.83885	.	.	ENSG00000119938	ENST00000238994;ENST00000438999;ENST00000500094	.	.	.	5.73	1.9	0.25705	.	0.050201	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.2689	8.9014	0.35497	0.4205:0.0:0.5795:0.0	.	.	.	.	X	235;215;117	.	ENSP00000238994:C235X	C	-	3	2	PPP1R3C	93379913	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.340000	0.33896	0.097000	0.17492	0.655000	0.94253	TGC		0.408	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049372.1	NM_005398		21	85	1	0	4.35082e-09	1	4.63281e-09	21	85				
EIF4G3	8672	broad.mit.edu	37	1	21268505	21268505	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:21268505G>T	ENST00000264211.8	-	8	1168	c.974C>A	c.(973-975)cCt>cAt	p.P325H	EIF4G3_ENST00000544689.1_5'Flank|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000374927.4_Missense_Mutation_p.P325H|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000602326.1_Missense_Mutation_p.P331H|EIF4G3_ENST00000374937.3_Missense_Mutation_p.P331H|EIF4G3_ENST00000400422.1_Missense_Mutation_p.P325H|EIF4G3_ENST00000356916.3_Missense_Mutation_p.P336H|EIF4G3_ENST00000374935.3_Intron	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	325					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGTTGGTAAAGGGTCTGATGT	0.383																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(991-993)cCt>cAt		eukaryotic translation initiation factor 4 gamma, 3							222.0	213.0	216.0					1																	21268505		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21268505G>T	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.974C>A	1.37:g.21268505G>T	ENSP00000264211:p.Pro325His					EIF4G3_ENST00000374937.3_Missense_Mutation_p.P331H|EIF4G3_ENST00000400422.1_Missense_Mutation_p.P325H|EIF4G3_ENST00000374927.4_Missense_Mutation_p.P325H|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000356916.3_Missense_Mutation_p.P336H|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000264211.8_Missense_Mutation_p.P325H	p.P331H	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	12	1575	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	325					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.992C>A	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458821	0.63401	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	6.17	4.29	0.51040	.	0.174356	0.52532	D	0.000075	T	0.24736	0.0600	N	0.19112	0.55	0.50632	D	0.999889	D;D;D;P;B	0.67145	0.986;0.988;0.996;0.856;0.007	P;P;P;B;B	0.59288	0.839;0.541;0.855;0.417;0.007	T	0.02491	-1.1151	10	0.62326	D	0.03	-3.5301	10.0077	0.41968	0.0685:0.0:0.7941:0.1374	.	325;520;451;331;325	B4DXR2;Q59GJ0;B1AN89;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	H	325;521;325;331;451;325;336	ENSP00000264211:P325H;ENSP00000383274:P325H;ENSP00000364073:P331H;ENSP00000364062:P325H	ENSP00000264211:P325H	P	-	2	0	EIF4G3	21141092	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.865000	0.56033	0.915000	0.36847	-0.136000	0.14681	CCT		0.383	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		22	280	1	0	1.9806e-07	1	2.08325e-07	22	280				
SLC44A2	57153	broad.mit.edu	37	19	10747142	10747142	+	Silent	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:10747142C>T	ENST00000335757.5	+	15	1753	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	SLC44A2_ENST00000586078.1_Silent_p.F459F|SLC44A2_ENST00000407327.4_Silent_p.F457F			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	459					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TGGCCAACTTCGTGCTGGCGC	0.647																																						ENST00000586078.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1375-1377)ttC>ttT		solute carrier family 44 (choline transporter), member 2	Choline(DB00122)						79.0	81.0	81.0					19																	10747142		2203	4300	6503	SO:0001819	synonymous_variant	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10747142C>T	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1377C>T	19.37:g.10747142C>T						SLC44A2_ENST00000335757.5_Silent_p.F459F|SLC44A2_ENST00000407327.4_Silent_p.F457F	p.F459F	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		15	1486	+			459					B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Silent	SNP	ENST00000335757.5	37	c.1377C>T	CCDS12245.1																																																																																				0.647	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1			25	129	0	0	0	1	0	25	129				
ECHDC2	55268	broad.mit.edu	37	1	53362207	53362207	+	Silent	SNP	T	T	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:53362207T>C	ENST00000371522.4	-	10	957	c.864A>G	c.(862-864)aaA>aaG	p.K288K	ECHDC2_ENST00000358358.5_Silent_p.K257K|ECHDC2_ENST00000536120.1_Silent_p.K242K	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	288					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TGCCAACAAATTTGGGAGTCC	0.502																																						ENST00000536120.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						c.(724-726)aaA>aaG		enoyl CoA hydratase domain containing 2							72.0	74.0	73.0					1																	53362207		2203	4300	6503	SO:0001819	synonymous_variant	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53362207T>C	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.864A>G	1.37:g.53362207T>C						ECHDC2_ENST00000371522.4_Silent_p.K288K|ECHDC2_ENST00000358358.5_Silent_p.K257K	p.K242K			Q86YB7	ECHD2_HUMAN			13	1543	-			288					D3DQ36|Q9NV38	Silent	SNP	ENST00000371522.4	37	c.726A>G	CCDS55600.1																																																																																				0.502	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		4	139	0	0	0	1	0	4	139				
FOCAD	54914	broad.mit.edu	37	9	20986313	20986313	+	Silent	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:20986313C>G	ENST00000380249.1	+	42	5119	c.4755C>G	c.(4753-4755)gtC>gtG	p.V1585V	FOCAD_ENST00000605086.1_Silent_p.V1021V|FOCAD_ENST00000338382.6_Silent_p.V1585V	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1585						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											CTGCCTTTGTCAAACTGTACT	0.413																																						ENST00000380249.1																			0											c.(4753-4755)gtC>gtG		focadhesin							87.0	76.0	80.0					9																	20986313		2203	4300	6503	SO:0001819	synonymous_variant	54914					integral to membrane	binding	g.chr9:20986313C>G	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4755C>G	9.37:g.20986313C>G						FOCAD_ENST00000605086.1_Silent_p.V1021V|FOCAD_ENST00000338382.6_Silent_p.V1585V	p.V1585V	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			42	5119	+			1585					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Silent	SNP	ENST00000380249.1	37	c.4755C>G	CCDS34993.1																																																																																				0.413	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		9	113	0	0	0	1	0	9	113				
LRP1B	53353	broad.mit.edu	37	2	141643780	141643780	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:141643780G>A	ENST00000389484.3	-	24	4862	c.3891C>T	c.(3889-3891)ttC>ttT	p.F1297F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1297					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACTTTGATTGAAGTGAAAAT	0.333										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(3889-3891)ttC>ttT		low density lipoprotein receptor-related protein 1B							81.0	82.0	82.0					2																	141643780		2202	4296	6498	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141643780G>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3891C>T	2.37:g.141643780G>A		TSP Lung(27;0.18)					p.F1297F	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	24	4862	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1297					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.3891C>T	CCDS2182.1																																																																																				0.333	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	70	0	0	0	1	0	7	70				
RYR2	6262	broad.mit.edu	37	1	237796974	237796974	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:237796974C>T	ENST00000366574.2	+	43	6969	c.6652C>T	c.(6652-6654)Ctc>Ttc	p.L2218F	RYR2_ENST00000542537.1_Missense_Mutation_p.L2202F|RYR2_ENST00000360064.6_Missense_Mutation_p.L2216F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2218	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTTTGATCATCTCAGTTATTT	0.338																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6652-6654)Ctc>Ttc		ryanodine receptor 2 (cardiac)							150.0	142.0	145.0					1																	237796974		1840	4093	5933	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237796974C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6652C>T	1.37:g.237796974C>T	ENSP00000355533:p.Leu2218Phe					RYR2_ENST00000542537.1_Missense_Mutation_p.L2202F|RYR2_ENST00000360064.6_Missense_Mutation_p.L2216F	p.L2218F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		43	6969	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2218			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6652C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410467	0.83340	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95690	-3.78;-3.78;-3.78	4.9	4.9	0.64082	Intracellular calcium-release channel (1);	0.000000	0.56097	D	0.000034	D	0.96999	0.9020	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96432	0.9320	10	0.37606	T	0.19	-11.1568	18.4443	0.90678	0.0:1.0:0.0:0.0	.	2218	Q92736	RYR2_HUMAN	F	2218;2216;2202	ENSP00000355533:L2218F;ENSP00000353174:L2216F;ENSP00000443798:L2202F	ENSP00000353174:L2216F	L	+	1	0	RYR2	235863597	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.730000	0.84881	2.417000	0.82017	0.563000	0.77884	CTC		0.338	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		6	106	0	0	0	1	0	6	106				
HIVEP1	3096	broad.mit.edu	37	6	12123724	12123724	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:12123724C>G	ENST00000379388.2	+	4	4028	c.3696C>G	c.(3694-3696)atC>atG	p.I1232M	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1232					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGCACAACATCCAAGTTCCAG	0.493																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(3694-3696)atC>atG		human immunodeficiency virus type I enhancer binding protein 1							64.0	62.0	62.0					6																	12123724		1941	4149	6090	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12123724C>G	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.3696C>G	6.37:g.12123724C>G	ENSP00000368698:p.Ile1232Met						p.I1232M	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	4028	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1232					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.3696C>G	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747175	0.49257	.	.	ENSG00000095951	ENST00000379388	T	0.47528	0.84	5.83	2.8	0.32819	.	0.000000	0.35179	N	0.003385	T	0.58807	0.2148	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62863	-0.6764	9	.	.	.	-22.9195	7.2523	0.26156	0.1302:0.6615:0.0:0.2082	.	1232	P15822	ZEP1_HUMAN	M	1232	ENSP00000368698:I1232M	.	I	+	3	3	HIVEP1	12231710	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	1.067000	0.30616	0.813000	0.34350	-0.218000	0.12543	ATC		0.493	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		6	57	0	0	0	1	0	6	57				
CD109	135228	broad.mit.edu	37	6	74492437	74492437	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:74492437G>A	ENST00000287097.5	+	18	2176	c.2064G>A	c.(2062-2064)aaG>aaA	p.K688K	CD109_ENST00000437994.2_Silent_p.K688K|CD109_ENST00000422508.2_Silent_p.K611K			Q6YHK3	CD109_HUMAN	CD109 molecule	688	Bait region (approximate). {ECO:0000250}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGTCCGAAAGCATTTTCCAG	0.348																																						ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2062-2064)aaG>aaA		CD109 molecule							154.0	144.0	148.0					6																	74492437		2203	4300	6503	SO:0001819	synonymous_variant	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74492437G>A	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2064G>A	6.37:g.74492437G>A						CD109_ENST00000422508.2_Silent_p.K611K|CD109_ENST00000287097.5_Silent_p.K688K	p.K688K	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN			18	2495	+			688			Bait region (approximate) (By similarity).		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	c.2064G>A	CCDS4982.1																																																																																				0.348	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		80	68	0	0	0	1	0	80	68				
RXFP3	51289	broad.mit.edu	37	5	33937219	33937219	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:33937219C>T	ENST00000330120.3	+	1	729	c.374C>T	c.(373-375)gCg>gTg	p.A125V		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	125					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						ACCAACCTGGCGCTGACGGAC	0.582																																						ENST00000330120.3																			0				endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						c.(373-375)gCg>gTg		relaxin/insulin-like family peptide receptor 3							136.0	125.0	128.0					5																	33937219		2203	4300	6503	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937219C>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.374C>T	5.37:g.33937219C>T	ENSP00000328708:p.Ala125Val						p.A125V	NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN			1	729	+			125					Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.374C>T	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	C	33	5.229464	0.95173	.	.	ENSG00000182631	ENST00000330120	T	0.56275	0.47	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78861	0.4350	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82145	-0.0602	10	0.87932	D	0	-29.1437	19.8764	0.96873	0.0:1.0:0.0:0.0	.	125	Q9NSD7	RL3R1_HUMAN	V	125	ENSP00000328708:A125V	ENSP00000328708:A125V	A	+	2	0	RXFP3	33972976	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.050000	0.71063	2.700000	0.92200	0.650000	0.86243	GCG		0.582	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		15	141	0	0	0	1	0	15	141				
PHC2	1912	broad.mit.edu	37	1	33837995	33837995	+	Silent	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:33837995C>T	ENST00000257118.5	-	2	281	c.228G>A	c.(226-228)caG>caA	p.Q76Q	PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Silent_p.Q76Q|PHC2_ENST00000419414.2_Silent_p.Q76Q	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	76	Gln-rich.				multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CGTACATCTGCTGCAGGTACT	0.672																																						ENST00000257118.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(226-228)caG>caA		polyhomeotic homolog 2 (Drosophila)							28.0	28.0	28.0					1																	33837995		2203	4300	6503	SO:0001819	synonymous_variant	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33837995C>T	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.228G>A	1.37:g.33837995C>T						PHC2_ENST00000419414.2_Silent_p.Q76Q|PHC2_ENST00000431992.1_Silent_p.Q76Q|PHC2_ENST00000373416.1_5'UTR	p.Q76Q	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN			2	281	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	76			Gln-rich.		A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Silent	SNP	ENST00000257118.5	37	c.228G>A	CCDS378.1																																																																																				0.672	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		6	26	0	0	0	1	0	6	26				
TFAP2E	339488	broad.mit.edu	37	1	36054038	36054038	+	Missense_Mutation	SNP	C	C	T	rs148010311		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:36054038C>T	ENST00000373235.3	+	4	878	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CGTGCCCGGCCGGCTTTCACT	0.647																																						ENST00000373235.3																			0				endometrium(1)|large_intestine(1)	2						c.(670-672)Cgg>Tgg		transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)		C	TRP/ARG	0,4406		0,0,2203	125.0	106.0	113.0		670	5.7	1.0	1	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	missense	TFAP2E	NM_178548.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	224/443	36054038	1,13005	2203	4300	6503	SO:0001583	missense	339488					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:36054038C>T	BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.670C>T	1.37:g.36054038C>T	ENSP00000362332:p.Arg224Trp						p.R224W	NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN			4	878	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	224						Missense_Mutation	SNP	ENST00000373235.3	37	c.670C>T	CCDS393.2	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785158	0.90282	0.0	1.16E-4	ENSG00000116819	ENST00000373235	D	0.99051	-5.37	5.68	5.68	0.88126	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99513	0.9826	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.98438	1.0585	10	0.87932	D	0	-17.9589	19.7788	0.96409	0.0:1.0:0.0:0.0	.	224	Q6VUC0	AP2E_HUMAN	W	224	ENSP00000362332:R224W	ENSP00000362332:R224W	R	+	1	2	TFAP2E	35826625	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	6.072000	0.71238	2.683000	0.91414	0.313000	0.20887	CGG		0.647	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012732.1	NM_178548		9	179	0	0	0	1	0	9	179				
ATP1A1	476	broad.mit.edu	37	1	116943570	116943570	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:116943570G>C	ENST00000295598.5	+	19	2912	c.2660G>C	c.(2659-2661)cGa>cCa	p.R887P	ATP1A1_ENST00000537345.1_Missense_Mutation_p.R887P|ATP1A1_ENST00000369496.4_Missense_Mutation_p.R856P	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	887					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	TTGGGCCTCCGAGTGGACTGG	0.552																																						ENST00000537345.1																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(2659-2661)cGa>cCa		ATPase, Na+/K+ transporting, alpha 1 polypeptide	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						68.0	69.0	68.0					1																	116943570		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116943570G>C	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.2660G>C	1.37:g.116943570G>C	ENSP00000295598:p.Arg887Pro					ATP1A1_ENST00000369496.4_Missense_Mutation_p.R856P|ATP1A1_ENST00000295598.5_Missense_Mutation_p.R887P	p.R887P	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	19	3023	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	887					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.2660G>C	CCDS887.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128138	0.94473	.	.	ENSG00000163399	ENST00000295598;ENST00000445896;ENST00000537345;ENST00000369496;ENST00000440951	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	5.1	5.1	0.69264	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94486	0.8225	M	0.84219	2.685	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.996;0.998	D	0.94815	0.7982	10	0.87932	D	0	.	18.7012	0.91620	0.0:0.0:1.0:0.0	.	887;887	F5H3A1;P05023	.;AT1A1_HUMAN	P	887;56;887;856;54	ENSP00000295598:R887P;ENSP00000445306:R887P;ENSP00000358508:R856P;ENSP00000396236:R54P	ENSP00000295598:R887P	R	+	2	0	ATP1A1	116745093	1.000000	0.71417	0.980000	0.43619	0.997000	0.91878	9.657000	0.98554	2.640000	0.89533	0.591000	0.81541	CGA		0.552	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		15	60	0	0	0	1	0	15	60				
KSR1	8844	broad.mit.edu	37	17	25936334	25936334	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:25936334C>G	ENST00000319524.6	+	17	2270	c.2270C>G	c.(2269-2271)tCa>tGa	p.S757*	KSR1_ENST00000268763.6_Nonsense_Mutation_p.S620*|KSR1_ENST00000398988.3_Nonsense_Mutation_p.S620*|KSR1_ENST00000509603.2_Nonsense_Mutation_p.S735*|KSR1_ENST00000582410.1_5'Flank			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	757	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TTTGGGATCTCAGGCGTGGTC	0.542																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(1858-1860)tCa>tGa		kinase suppressor of ras 1							169.0	169.0	169.0					17																	25936334		2062	4193	6255	SO:0001587	stop_gained	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25936334C>G	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.2270C>G	17.37:g.25936334C>G	ENSP00000323178:p.Ser757*					KSR1_ENST00000319524.6_Nonsense_Mutation_p.S757*|KSR1_ENST00000509603.2_Nonsense_Mutation_p.S735*|KSR1_ENST00000268763.6_Nonsense_Mutation_p.S620*	p.S620*	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	18	2304	+	Lung NSC(42;0.00836)		755			Protein kinase.		F8WEA9|H7BYU0|Q13476	Nonsense_Mutation	SNP	ENST00000319524.6	37	c.1859C>G		.	.	.	.	.	.	.	.	.	.	C	44	11.116749	0.99518	.	.	ENSG00000141068	ENST00000319524;ENST00000509603;ENST00000268763;ENST00000398982	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.0895	0.93221	0.0:1.0:0.0:0.0	.	.	.	.	X	757;735;620;620	.	ENSP00000268763:S620X	S	+	2	0	KSR1	22960461	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	7.699000	0.84547	2.748000	0.94277	0.655000	0.94253	TCA		0.542	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		19	195	0	0	0	1	0	19	195				
HDX	139324	broad.mit.edu	37	X	83724155	83724155	+	Silent	SNP	G	G	A	rs149996033		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:83724155G>A	ENST00000297977.5	-	3	687	c.576C>T	c.(574-576)caC>caT	p.H192H	HDX_ENST00000506585.2_Silent_p.H134H|HDX_ENST00000373177.2_Silent_p.H192H	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	192						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTTCTTTGCGTGATTGAATA	0.388																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(574-576)caC>caT		highly divergent homeobox		G	,,	1,3834		0,1,1631,571	134.0	118.0	123.0		402,576,576	1.8	1.0	X	dbSNP_134	123	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	HDX	NM_001177478.1,NM_001177479.1,NM_144657.4	,,	0,2,4058,2443	AA,AG,GG,G		0.0149,0.0261,0.0189	,,	134/633,192/691,192/691	83724155	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724155G>A	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.576C>T	X.37:g.83724155G>A						HDX_ENST00000373177.2_Silent_p.H192H|HDX_ENST00000506585.2_Silent_p.H134H	p.H192H	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			3	687	-			192					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	ENST00000297977.5	37	c.576C>T	CCDS35342.1																																																																																				0.388	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		31	163	0	0	0	1	0	31	163				
FBXO33	254170	broad.mit.edu	37	14	39871066	39871066	+	Splice_Site	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:39871066C>T	ENST00000298097.7	-	3	1048		c.e3-1		FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33						protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TTGCTGAATTCTATAAGGAAA	0.368																																						ENST00000298097.7																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9						c.e3-1		F-box protein 33							45.0	46.0	46.0					14																	39871066		2203	4300	6503	SO:0001630	splice_region_variant	254170							g.chr14:39871066C>T	BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"""F-boxes /  ""other"""""	19833	protein-coding gene	gene with protein product		609103	"""F-box only protein 33"""				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.711-1G>A	14.37:g.39871066C>T						FBXO33_ENST00000554190.1_Intron		NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)	3	1048	-	Hepatocellular(127;0.213)							Q6PIR2|Q86TR2|Q86YE0	Splice_Site	SNP	ENST00000298097.7	37		CCDS9677.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002203	0.74932	.	.	ENSG00000165355	ENST00000298097	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9855	0.97347	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBXO33	38940817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.408000	0.80041	2.715000	0.92844	0.655000	0.94253	.		0.368	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276769.2		Intron	17	78	0	0	0	1	0	17	78				
ZBTB44	29068	broad.mit.edu	37	11	130131646	130131646	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:130131646G>C	ENST00000357899.4	-	2	395	c.123C>G	c.(121-123)atC>atG	p.I41M	ZBTB44_ENST00000525842.1_Missense_Mutation_p.I41M|ZBTB44_ENST00000530205.1_Missense_Mutation_p.I41M|ZBTB44_ENST00000397753.1_Missense_Mutation_p.I41M			Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	41	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		GTGCCCGGAAGATTTTGTCCT	0.453																																						ENST00000525842.1																			0				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						c.(121-123)atC>atG		zinc finger and BTB domain containing 44							143.0	137.0	139.0					11																	130131646		1924	4129	6053	SO:0001583	missense	29068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:130131646G>C	AK024659	CCDS44776.1, CCDS73414.1, CCDS73415.1	11q24.3	2013-01-08	2006-09-19	2006-09-19		ENSG00000196323		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	25001	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 15"""	BTBD15		11042152	Standard	NM_014155		Approved	HSPC063, ZNF851	uc001qgb.4	Q8NCP5		ENST00000357899.4:c.123C>G	11.37:g.130131646G>C	ENSP00000350574:p.Ile41Met					ZBTB44_ENST00000530205.1_Missense_Mutation_p.I41M|ZBTB44_ENST00000397753.1_Missense_Mutation_p.I41M|ZBTB44_ENST00000357899.4_Missense_Mutation_p.I41M	p.I41M	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)	2	490	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	41			BTB.		Q6IPT8|Q86VJ7|Q86XX5	Missense_Mutation	SNP	ENST00000357899.4	37	c.123C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.18|12.18	1.861914|1.861914	0.32884|0.32884	.|.	.|.	ENSG00000196323|ENSG00000196323	ENST00000525842;ENST00000397753;ENST00000445008;ENST00000357899;ENST00000530205|ENST00000527478	T;T;T;T;T|.	0.66995|.	-0.24;-0.24;-0.24;-0.24;-0.24|.	6.07|6.07	6.07|6.07	0.98685|0.98685	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);|.	0.094519|.	0.64402|.	D|.	0.000001|.	T|T	0.55893|0.55893	0.1949|0.1949	N|N	0.17723|0.17723	0.515|0.515	0.53005|0.53005	D|D	0.99996|0.99996	P;P;P;B|.	0.44946|.	0.815;0.815;0.846;0.126|.	B;B;B;B|.	0.44224|.	0.316;0.316;0.444;0.413|.	T|T	0.46148|0.46148	-0.9212|-0.9212	10|5	0.45353|.	T|.	0.12|.	.|.	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	41;41;41;41|.	Q8NCP5-4;Q8NCP5-3;Q8NCP5;Q8NCP5-2|.	.;.;ZBT44_HUMAN;.|.	M|V	41|38	ENSP00000433457:I41M;ENSP00000380861:I41M;ENSP00000408079:I41M;ENSP00000350574:I41M;ENSP00000434177:I41M|.	ENSP00000350574:I41M|.	I|L	-|-	3|1	3|0	ZBTB44|ZBTB44	129636856|129636856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.974000|2.974000	0.49272|0.49272	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	ATC|CTT		0.453	ZBTB44-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000386126.1	NM_014155		4	182	0	0	0	1	0	4	182				
ARHGAP33	115703	broad.mit.edu	37	19	36278688	36278688	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:36278688G>A	ENST00000007510.4	+	21	3365	c.3221G>A	c.(3220-3222)gGc>gAc	p.G1074D	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.G913D|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.G910D|AC002398.5_ENST00000433059.1_lincRNA			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1074					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						AGCTCTCTGGGCCCCCCTGCA	0.662																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3220-3222)gGc>gAc		Rho GTPase activating protein 33							26.0	30.0	29.0					19																	36278688		2201	4295	6496	SO:0001583	missense	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36278688G>A	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3221G>A	19.37:g.36278688G>A	ENSP00000007510:p.Gly1074Asp					ARHGAP33_ENST00000314737.5_Missense_Mutation_p.G913D|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.G910D	p.G1074D			O14559	RHG33_HUMAN			21	3365	+			1074					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	ENST00000007510.4	37	c.3221G>A		.	.	.	.	.	.	.	.	.	.	G	12.97	2.097175	0.37048	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.33438	2.22;1.41;1.67	4.53	3.46	0.39613	.	0.000000	0.47093	D	0.000257	T	0.25531	0.0621	N	0.19112	0.55	0.39083	D	0.960947	P;P	0.43231	0.801;0.801	P;P	0.47915	0.561;0.459	T	0.07654	-1.0761	10	0.54805	T	0.06	.	8.9209	0.35610	0.0:0.1633:0.6678:0.1689	.	910;913	O14559-10;O14559-11	.;.	D	1074;913;910	ENSP00000007510:G1074D;ENSP00000320038:G913D;ENSP00000368227:G910D	ENSP00000007510:G1074D	G	+	2	0	ARHGAP33	40970528	0.339000	0.24784	0.433000	0.26760	0.960000	0.62799	0.987000	0.29603	1.001000	0.39076	0.462000	0.41574	GGC		0.662	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		8	69	0	0	0	1	0	8	69				
GPR160	26996	broad.mit.edu	37	3	169802120	169802120	+	Silent	SNP	T	T	C	rs371080313		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr3:169802120T>C	ENST00000355897.5	+	4	968	c.360T>C	c.(358-360)taT>taC	p.Y120Y		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.Y120*(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GTATAGATTATTGCCTGAATT	0.294																																						ENST00000355897.5																			1	Substitution - Nonsense(1)	p.Y120*(1)	large_intestine(1)	breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8						c.(358-360)taT>taC		G protein-coupled receptor 160		T		0,4406		0,0,2203	46.0	50.0	49.0		360	-2.4	0.2	3		49	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	GPR160	NM_014373.2		0,1,6501	CC,CT,TT		0.0116,0.0,0.0077		120/339	169802120	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	26996					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:169802120T>C	AB083583	CCDS3211.1	3q26.2-q27	2012-08-21			ENSG00000173890	ENSG00000173890		"""GPCR / Class A : Orphans"""	23693	protein-coding gene	gene with protein product						12044878	Standard	NM_014373		Approved	GPCR150, GPCR1	uc003fgi.3	Q9UJ42	OTTHUMG00000158776	ENST00000355897.5:c.360T>C	3.37:g.169802120T>C							p.Y120Y	NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		4	968	+	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		120					D3DNQ2	Silent	SNP	ENST00000355897.5	37	c.360T>C	CCDS3211.1																																																																																				0.294	GPR160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352167.1	NM_014373		14	140	0	0	0	1	0	14	140				
CYP26A1	1592	broad.mit.edu	37	10	94834728	94834728	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr10:94834728G>A	ENST00000224356.4	+	3	652	c.607G>A	c.(607-609)Gac>Aac	p.D203N	CYP26A1_ENST00000394139.1_Missense_Mutation_p.D134N|CYP26A1_ENST00000371531.1_Missense_Mutation_p.D134N	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	203					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	ACTGGCGGGCGACGGGGACTC	0.657																																						ENST00000371531.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(400-402)Gac>Aac		cytochrome P450, family 26, subfamily A, polypeptide 1							35.0	41.0	39.0					10																	94834728		2201	4299	6500	SO:0001583	missense	1592				negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr10:94834728G>A	AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"""Cytochrome P450s"""	2603	protein-coding gene	gene with protein product		602239	"""cytochrome P450, subfamily XXVIA, polypeptide 1"""			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.607G>A	10.37:g.94834728G>A	ENSP00000224356:p.Asp203Asn					CYP26A1_ENST00000224356.4_Missense_Mutation_p.D203N|CYP26A1_ENST00000394139.1_Missense_Mutation_p.D134N	p.D134N	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN			3	778	+		Colorectal(252;0.122)	203					B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	ENST00000224356.4	37	c.400G>A	CCDS7426.1	.	.	.	.	.	.	.	.	.	.	G	7.035	0.561312	0.13498	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.70986	-0.53;-0.53;-0.53	5.03	1.08	0.20341	.	0.563691	0.17996	N	0.155053	T	0.39064	0.1064	N	0.02539	-0.55	0.09310	N	1	B;B	0.25206	0.12;0.05	B;B	0.20767	0.031;0.014	T	0.26950	-1.0088	10	0.34782	T	0.22	-2.8012	6.3963	0.21614	0.2985:0.1981:0.5035:0.0	.	134;203	B3KNI4;O43174	.;CP26A_HUMAN	N	134;203;134	ENSP00000360586:D134N;ENSP00000224356:D203N;ENSP00000377695:D134N	ENSP00000224356:D203N	D	+	1	0	CYP26A1	94824718	0.149000	0.22717	0.081000	0.20488	0.168000	0.22595	1.866000	0.39489	0.324000	0.23333	-0.379000	0.06801	GAC		0.657	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049408.3			15	83	0	0	0	1	0	15	83				
TECPR1	25851	broad.mit.edu	37	7	97851780	97851780	+	Silent	SNP	G	G	A	rs369865845		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:97851780G>A	ENST00000447648.2	-	22	3281	c.2982C>T	c.(2980-2982)atC>atT	p.I994I	TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Silent_p.I996I			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	994					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGCAGGCCCCGATGGAGATGG	0.711																																						ENST00000447648.2																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2980-2982)atC>atT		tectonin beta-propeller repeat containing 1		G		0,4094		0,0,2047	18.0	25.0	23.0		2982	-4.2	0.6	7		23	1,8391		0,1,4195	no	coding-synonymous	TECPR1	NM_015395.1		0,1,6242	AA,AG,GG		0.0119,0.0,0.0080		994/1166	97851780	1,12485	2047	4196	6243	SO:0001819	synonymous_variant	25851					integral to membrane	protein binding	g.chr7:97851780G>A		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2982C>T	7.37:g.97851780G>A						TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Silent_p.I996I	p.I994I			Q7Z6L1	TCPR1_HUMAN			22	3281	-			994					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Silent	SNP	ENST00000447648.2	37	c.2982C>T	CCDS47648.1																																																																																				0.711	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		5	9	0	0	0	1	0	5	9				
FXR1	8087	broad.mit.edu	37	3	180669130	180669130	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr3:180669130G>A	ENST00000357559.4	+	8	1059	c.675G>A	c.(673-675)gtG>gtA	p.V225V	FXR1_ENST00000480918.1_Silent_p.V212V|FXR1_ENST00000445140.2_Silent_p.V225V|FXR1_ENST00000491062.1_Silent_p.V176V|FXR1_ENST00000468861.1_Silent_p.V140V|FXR1_ENST00000305586.7_Silent_p.V140V	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	225	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AATTTGTTGTGAGAGAAGATT	0.363																																						ENST00000357559.4																			0				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26						c.(673-675)gtG>gtA		fragile X mental retardation, autosomal homolog 1							93.0	91.0	92.0					3																	180669130		2203	4300	6503	SO:0001819	synonymous_variant	8087				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		g.chr3:180669130G>A	M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.675G>A	3.37:g.180669130G>A						FXR1_ENST00000491062.1_Silent_p.V176V|FXR1_ENST00000480918.1_Silent_p.V212V|FXR1_ENST00000445140.2_Silent_p.V225V|FXR1_ENST00000305586.7_Silent_p.V140V|FXR1_ENST00000468861.1_Silent_p.V140V	p.V225V	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)		8	1059	+	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		225			KH 1.		A8K9B8|Q7Z450|Q8N6R8	Silent	SNP	ENST00000357559.4	37	c.675G>A	CCDS3238.1																																																																																				0.363	FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5			11	126	0	0	0	1	0	11	126				
ABCF3	55324	broad.mit.edu	37	3	183909041	183909041	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr3:183909041G>T	ENST00000429586.2	+	16	1752	c.1567G>T	c.(1567-1569)Gtg>Ttg	p.V523L	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.V517L	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	523	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCGCATCTGTGTGGTAAGGCT	0.537																																						ENST00000429586.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39						c.(1567-1569)Gtg>Ttg		ATP-binding cassette, sub-family F (GCN20), member 3							172.0	148.0	156.0					3																	183909041		2203	4300	6503	SO:0001583	missense	55324						ATP binding|ATPase activity	g.chr3:183909041G>T	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1567G>T	3.37:g.183909041G>T	ENSP00000411471:p.Val523Leu					ABCF3_ENST00000292808.5_Missense_Mutation_p.V517L|EIF2B5_ENST00000444495.1_Intron	p.V523L	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	1752	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		523			ABC transporter 2.		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.1567G>T	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953494	0.53293	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	T;T	0.74209	-0.82;-0.82	5.93	5.93	0.95920	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.059288	0.64402	D	0.000002	T	0.48589	0.1508	N	0.01202	-0.96	0.58432	D	0.999995	B;B	0.28055	0.199;0.007	B;B	0.32090	0.14;0.011	T	0.57136	-0.7863	10	0.02654	T	1	-22.9101	19.3249	0.94258	0.0:0.0:1.0:0.0	.	517;523	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	L	523;517	ENSP00000411471:V523L;ENSP00000292808:V517L	ENSP00000292808:V517L	V	+	1	0	ABCF3	185391735	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.391000	0.79828	2.805000	0.96524	0.655000	0.94253	GTG		0.537	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		23	273	1	0	3.83957e-06	1	4.00197e-06	23	273				
LYPLA2	11313	broad.mit.edu	37	1	24119250	24119250	+	Splice_Site	SNP	G	G	A	rs2232978		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:24119250G>A	ENST00000374514.3	+	2	385	c.78G>A	c.(76-78)gcG>gcA	p.A26A	LYPLA2_ENST00000374503.3_Splice_Site_p.A26A|LYPLA2_ENST00000374501.1_5'Flank|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000400061.1_Splice_Site_p.A26A|LYPLA2_ENST00000374502.3_Splice_Site_p.A26A|LYPLA2_ENST00000374505.2_Splice_Site_p.A26A	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	26					fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)	p.A26A(1)		endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		AAACGGCCGCGGTAAGGGTCC	0.642																																						ENST00000374514.3																			1	Substitution - coding silent(1)	p.A26A(1)	endometrium(1)	endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.e2+1		lysophospholipase II							57.0	56.0	57.0					1																	24119250		2203	4300	6503	SO:0001630	splice_region_variant	11313				fatty acid metabolic process	cytoplasm	hydrolase activity	g.chr1:24119250G>A	AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961	ENST00000374514.3:c.78+1G>A	1.37:g.24119250G>A						LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374503.3_Splice_Site_p.A26_splice|LYPLA2_ENST00000400061.1_Splice_Site_p.A26_splice|LYPLA2_ENST00000374502.3_Splice_Site_p.A26_splice|LYPLA2_ENST00000374505.2_Splice_Site_p.A26_splice	p.A26_splice	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	2	385	+		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	26					Q7Z4Z2	Splice_Site	SNP	ENST00000374514.3	37	c.78_splice	CCDS241.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037215	0.93630	.	.	ENSG00000011009	ENST00000374506;ENST00000420982	T	0.30182	1.54	4.06	4.06	0.47325	.	.	.	.	.	T	0.36110	0.0955	.	.	.	0.80722	D	1	D	0.55605	0.972	P	0.46419	0.516	T	0.36456	-0.9747	8	0.87932	D	0	.	13.1033	0.59233	0.0:0.0:0.8395:0.1605	rs2232978	14	E9PH41	.	Q	14	ENSP00000409004:R14Q	ENSP00000363630:R14Q	R	+	2	0	LYPLA2	23991837	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	4.172000	0.58243	2.107000	0.64212	0.448000	0.29417	CGG		0.642	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1		Silent	17	142	0	0	0	1	0	17	142				
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)Agt>Ggt																																						SO:0001583	missense	284802							g.chr20:29628299A>G			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.301A>G	20.37:g.29628299A>G	ENSP00000278882:p.Ser101Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G	p.S101G							6	681	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.301A>G		.	.	.	.	.	.	.	.	.	.	a	16.61	3.170807	0.57584	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50001	0.76	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	D	0.000001	T	0.38719	0.1051	.	.	.	0.42178	D	0.991671	B;P	0.36483	0.147;0.555	B;B	0.37731	0.138;0.257	T	0.38178	-0.9673	9	0.62326	D	0.03	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	G	101;106;101	ENSP00000408863:S106G	ENSP00000278882:S101G	S	+	1	0	FRG1B	28241960	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.085000	0.89518	1.208000	0.43306	0.347000	0.21830	AGT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	116	0	0	0	1	0	4	116				
SUV420H2	84787	broad.mit.edu	37	19	55858809	55858809	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:55858809G>A	ENST00000255613.3	+	9	1629	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K		NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	461					histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CGGCGGTGAAGAGCTGTGACA	0.672																																						ENST00000255613.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4						c.(1381-1383)Gag>Aag		suppressor of variegation 4-20 homolog 2 (Drosophila)							9.0	9.0	9.0					19																	55858809		1969	3860	5829	SO:0001583	missense	84787				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr19:55858809G>A	BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"""Chromatin-modifying enzymes / K-methyltransferases"""	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.1381G>A	19.37:g.55858809G>A	ENSP00000255613:p.Glu461Lys						p.E461K	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	9	1629	+	Breast(117;0.191)		461					Q8WZ10|Q9BRZ6	Missense_Mutation	SNP	ENST00000255613.3	37	c.1381G>A	CCDS12922.1	.	.	.	.	.	.	.	.	.	.	g	6.879	0.531643	0.13127	.	.	ENSG00000133247	ENST00000255613	.	.	.	3.01	1.97	0.26223	.	0.648430	0.11222	U	0.586572	T	0.25306	0.0615	N	0.14661	0.345	0.09310	N	0.999998	B	0.13594	0.008	B	0.09377	0.004	T	0.21484	-1.0244	9	0.66056	D	0.02	-6.522	7.9578	0.30053	0.1252:0.0:0.8748:0.0	.	461	Q86Y97	SV422_HUMAN	K	461	.	ENSP00000255613:E461K	E	+	1	0	SUV420H2	60550621	0.045000	0.20229	0.001000	0.08648	0.007000	0.05969	2.014000	0.40951	0.846000	0.35142	0.462000	0.41574	GAG		0.672	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318309.2	NM_032701		5	20	0	0	0	1	0	5	20				
TESPA1	9840	broad.mit.edu	37	12	55356397	55356397	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:55356397C>T	ENST00000449076.1	-	9	1417	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	TESPA1_ENST00000532804.1_Missense_Mutation_p.E291K|TESPA1_ENST00000531122.1_Missense_Mutation_p.E291K|TESPA1_ENST00000316577.8_Missense_Mutation_p.E429K|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000524622.1_Missense_Mutation_p.E291K	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	429					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											CAGAAAGTCTCATCCTTGGCT	0.507																																						ENST00000524622.1																			0											c.(871-873)Gag>Aag		thymocyte expressed, positive selection associated 1							161.0	162.0	162.0					12																	55356397		1926	4129	6055	SO:0001583	missense	9840							g.chr12:55356397C>T	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1285G>A	12.37:g.55356397C>T	ENSP00000400892:p.Glu429Lys					TESPA1_ENST00000316577.8_Missense_Mutation_p.E429K|TESPA1_ENST00000532804.1_Missense_Mutation_p.E291K|TESPA1_ENST00000531122.1_Missense_Mutation_p.E291K|TESPA1_ENST00000449076.1_Missense_Mutation_p.E429K	p.E291K	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN			7	1532	-			429					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	c.871G>A	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509854	0.64522	.	.	ENSG00000135426	ENST00000524622;ENST00000528240;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.52526	0.66;0.66;0.69;0.69;0.66	4.43	4.43	0.53597	.	0.390593	0.22034	N	0.065546	T	0.39809	0.1092	L	0.32530	0.975	0.33137	D	0.543801	P	0.46395	0.877	B	0.43728	0.429	T	0.52079	-0.8623	10	0.39692	T	0.17	-9.7237	12.8528	0.57867	0.0:1.0:0.0:0.0	.	429	A2RU30	K0748_HUMAN	K	291;29;291;429;429;291	ENSP00000435622:E291K;ENSP00000432030:E291K;ENSP00000400892:E429K;ENSP00000312679:E429K;ENSP00000433098:E291K	ENSP00000312679:E429K	E	-	1	0	KIAA0748	53642664	0.669000	0.27502	0.733000	0.30861	0.932000	0.56968	2.518000	0.45537	2.741000	0.93983	0.655000	0.94253	GAG		0.507	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		32	164	0	0	0	1	0	32	164				
DAP3	7818	broad.mit.edu	37	1	155699069	155699069	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:155699069C>A	ENST00000368336.5	+	9	879	c.755C>A	c.(754-756)tCt>tAt	p.S252Y	DAP3_ENST00000343043.3_Missense_Mutation_p.S252Y|DAP3_ENST00000535183.1_Missense_Mutation_p.S211Y|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000471642.2_Missense_Mutation_p.S211Y|DAP3_ENST00000421487.2_Missense_Mutation_p.S218Y|MSTO1_ENST00000452804.2_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	252					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGGCAAAGTTCTTTGGGTATG	0.473																																						ENST00000368336.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(754-756)tCt>tAt		death associated protein 3							154.0	138.0	143.0					1																	155699069		2203	4300	6503	SO:0001583	missense	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155699069C>A	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.755C>A	1.37:g.155699069C>A	ENSP00000357320:p.Ser252Tyr					DAP3_ENST00000471214.1_3'UTR|DAP3_ENST00000343043.3_Missense_Mutation_p.S252Y|DAP3_ENST00000421487.2_Missense_Mutation_p.S218Y|DAP3_ENST00000535183.1_Missense_Mutation_p.S211Y|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron	p.S252Y	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN			9	879	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		252					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	ENST00000368336.5	37	c.755C>A	CCDS1120.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.453067	0.63290	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.64	4.72	0.59763	.	0.441327	0.27455	N	0.019286	T	0.39036	0.1063	L	0.46157	1.445	0.09310	N	1	P;P;P;P	0.41393	0.748;0.748;0.748;0.748	P;P;P;P	0.49387	0.609;0.609;0.609;0.609	T	0.32903	-0.9889	10	0.72032	D	0.01	-5.9846	14.3328	0.66569	0.0:0.7189:0.2811:0.0	.	211;218;218;252	B4DP59;B4DY62;E7EM60;P51398	.;.;.;RT29_HUMAN	Y	252;252;218;211	ENSP00000357320:S252Y;ENSP00000341692:S252Y;ENSP00000412605:S218Y;ENSP00000445003:S211Y	ENSP00000341692:S252Y	S	+	2	0	DAP3	153965693	0.000000	0.05858	0.011000	0.14972	0.948000	0.59901	0.464000	0.21988	1.606000	0.50161	0.650000	0.86243	TCT		0.473	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		28	132	1	0	1.55811e-20	1	1.7011e-20	28	132				
TMEM38A	79041	broad.mit.edu	37	19	16799014	16799014	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:16799014C>G	ENST00000187762.2	+	6	823	c.732C>G	c.(730-732)atC>atG	p.I244M		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	244						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						AGGGCTACATCTGCCCCGTGC	0.632																																						ENST00000187762.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						c.(730-732)atC>atG		transmembrane protein 38A							193.0	202.0	199.0					19																	16799014		2203	4300	6503	SO:0001583	missense	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16799014C>G	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.732C>G	19.37:g.16799014C>G	ENSP00000187762:p.Ile244Met						p.I244M	NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN			6	823	+			244					A8K9P9	Missense_Mutation	SNP	ENST00000187762.2	37	c.732C>G	CCDS12349.1	.	.	.	.	.	.	.	.	.	.	c	8.070	0.769954	0.15983	.	.	ENSG00000072954	ENST00000187762	.	.	.	4.33	0.806	0.18708	.	0.504103	0.21497	N	0.073595	T	0.45357	0.1338	L	0.46157	1.445	0.44104	D	0.996871	B	0.34103	0.437	B	0.32980	0.156	T	0.32824	-0.9892	9	0.49607	T	0.09	-13.169	7.9199	0.29839	0.0:0.6072:0.3054:0.0873	.	244	Q9H6F2	TM38A_HUMAN	M	244	.	ENSP00000187762:I244M	I	+	3	3	TMEM38A	16660014	0.996000	0.38824	0.964000	0.40570	0.120000	0.20174	0.796000	0.26986	0.246000	0.21394	0.462000	0.41574	ATC		0.632	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		42	335	0	0	0	1	0	42	335				
SLC12A4	6560	broad.mit.edu	37	16	67986121	67986121	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr16:67986121C>A	ENST00000316341.3	-	7	1023	c.883G>T	c.(883-885)Ggc>Tgc	p.G295C	SLC12A4_ENST00000422611.2_Missense_Mutation_p.G297C|SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000541864.2_Missense_Mutation_p.G264C|SLC12A4_ENST00000572037.1_Missense_Mutation_p.G247C|SLC12A4_ENST00000338335.3_Missense_Mutation_p.G295C|SLC12A4_ENST00000537830.2_Missense_Mutation_p.G289C|SLC12A4_ENST00000576616.1_Missense_Mutation_p.G295C	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	295					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GACTTTATGCCCCCAGCATAG	0.498																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(889-891)Ggc>Tgc		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						104.0	103.0	103.0					16																	67986121		2198	4300	6498	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67986121C>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.883G>T	16.37:g.67986121C>A	ENSP00000318557:p.Gly295Cys					SLC12A4_ENST00000541864.2_Missense_Mutation_p.G264C|SLC12A4_ENST00000537830.2_Missense_Mutation_p.G289C|SLC12A4_ENST00000338335.3_Missense_Mutation_p.G295C|SLC12A4_ENST00000576616.1_Missense_Mutation_p.G295C|SLC12A4_ENST00000572037.1_Missense_Mutation_p.G247C|SLC12A4_ENST00000316341.3_Missense_Mutation_p.G295C	p.G297C	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	6	928	-		Ovarian(137;0.192)	295					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.889G>T	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409289	0.83340	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.99060	-5.38;-5.38;-5.38;-5.38;-5.38	5.16	5.16	0.70880	Amino acid permease domain (1);	0.095271	0.64402	D	0.000001	D	0.97729	0.9255	L	0.34521	1.04	0.50313	D	0.999861	B;B;P;B;B;B	0.44281	0.005;0.033;0.831;0.027;0.027;0.002	B;B;P;B;B;B	0.49140	0.008;0.033;0.601;0.031;0.02;0.009	D	0.97305	0.9933	10	0.40728	T	0.16	.	13.9085	0.63850	0.1523:0.8477:0.0:0.0	.	297;295;264;289;295;295	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	C	297;264;289;295;295	ENSP00000395983:G297C;ENSP00000438334:G264C;ENSP00000445962:G289C;ENSP00000343374:G295C;ENSP00000318557:G295C	ENSP00000318557:G295C	G	-	1	0	SLC12A4	66543622	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.581000	0.87130	0.585000	0.79938	GGC		0.498	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		9	53	1	0	3.09899e-07	1	3.2497e-07	9	53				
MIR493	574450	broad.mit.edu	37	14	101335439	101335439	+	RNA	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:101335439G>A	ENST00000385254.1	+	0	43					NR_030172.1				microRNA 493																		tcattcattcgtttgcacatt	0.587																																						ENST00000385254.1																			0																				119.0	110.0	112.0					14																	101335439		1568	3582	5150			574450							g.chr14:101335439G>A			14q32.2	2011-09-12		2008-12-18	ENSG00000207989	ENSG00000207989		"""ncRNAs / Micro RNAs"""	32082	non-coding RNA	RNA, micro				MIRN493			Standard	NR_030172		Approved	hsa-mir-493	uc021sca.1				14.37:g.101335439G>A								NR_030172.1						0	43	+									RNA	SNP	ENST00000385254.1	37																																																																																						0.587	MIR493-201	KNOWN	basic	miRNA	miRNA		NR_030172		10	56	0	0	0	1	0	10	56				
BAZ2B	29994	broad.mit.edu	37	2	160245892	160245892	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:160245892C>G	ENST00000392783.2	-	21	3675	c.3180G>C	c.(3178-3180)aaG>aaC	p.K1060N	AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000355831.2_Missense_Mutation_p.K1026N|BAZ2B_ENST00000343439.5_Missense_Mutation_p.K960N|BAZ2B_ENST00000392782.1_Missense_Mutation_p.K1024N	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1060	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CATTAGGCTTCTTTAGTTCCT	0.338																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(3178-3180)aaG>aaC		bromodomain adjacent to zinc finger domain, 2B							249.0	229.0	235.0					2																	160245892		1849	4103	5952	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160245892C>G	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3180G>C	2.37:g.160245892C>G	ENSP00000376534:p.Lys1060Asn					AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Missense_Mutation_p.K1024N|BAZ2B_ENST00000343439.5_Missense_Mutation_p.K960N|BAZ2B_ENST00000355831.2_Missense_Mutation_p.K1026N	p.K1060N	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			21	3675	-			1060			Lys-rich.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.3180G>C	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.64|18.64	3.666843|3.666843	0.67814|0.67814	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000294905|ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	.|T;T;T;T	.|0.30714	.|1.52;1.52;1.52;4.1	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	.|0.000000	.|0.38720	.|U	.|0.001591	T|T	0.54078|0.54078	0.1836|0.1836	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	.|D;P	.|0.89917	.|1.0;0.954	.|D;P	.|0.69479	.|0.964;0.796	T|T	0.51710|0.51710	-0.8671|-0.8671	5|10	.|0.49607	.|T	.|0.09	-10.0485|-10.0485	19.2239|19.2239	0.93810|0.93810	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1024;1060	.|Q9UIF8-5;Q9UIF8	.|.;BAZ2B_HUMAN	Q|N	121|1024;1060;1026;960	.|ENSP00000376533:K1024N;ENSP00000376534:K1060N;ENSP00000348087:K1026N;ENSP00000339670:K960N	.|ENSP00000339670:K960N	E|K	-|-	1|3	0|2	BAZ2B|BAZ2B	159954138|159954138	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.070000|6.070000	0.71220|0.71220	2.562000|2.562000	0.86427|0.86427	0.591000|0.591000	0.81541|0.81541	GAA|AAG		0.338	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			31	186	0	0	0	1	0	31	186				
LMBRD1	55788	broad.mit.edu	37	6	70428941	70428941	+	Silent	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:70428941C>T	ENST00000370577.3	-	8	898	c.669G>A	c.(667-669)ctG>ctA	p.L223L	LMBRD1_ENST00000370570.1_Silent_p.L150L	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	223					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TGCCTTTTATCAGATTTAAAG	0.313																																						ENST00000370577.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						c.(667-669)ctG>ctA		LMBR1 domain containing 1							115.0	99.0	104.0					6																	70428941		2203	4300	6503	SO:0001819	synonymous_variant	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70428941C>T	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.669G>A	6.37:g.70428941C>T						LMBRD1_ENST00000370570.1_Silent_p.L150L	p.L223L	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN			8	898	-			223					A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Silent	SNP	ENST00000370577.3	37	c.669G>A	CCDS4969.1																																																																																				0.313	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1	NM_018368		10	63	0	0	0	1	0	10	63				
FBXL7	23194	broad.mit.edu	37	5	15937233	15937233	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:15937233C>A	ENST00000504595.1	+	4	1895	c.1414C>A	c.(1414-1416)Cgc>Agc	p.R472S	MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000510662.1_Missense_Mutation_p.R425S|FBXL7_ENST00000329673.7_Missense_Mutation_p.R460S	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	472					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GGAGGCCCTGCGCTTTGTCAA	0.592																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1414-1416)Cgc>Agc		F-box and leucine-rich repeat protein 7							24.0	27.0	26.0					5																	15937233		2110	4242	6352	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15937233C>A	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1414C>A	5.37:g.15937233C>A	ENSP00000423630:p.Arg472Ser					FBXL7_ENST00000329673.7_Missense_Mutation_p.R460S|FBXL7_ENST00000510662.1_Missense_Mutation_p.R425S	p.R472S	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			4	1895	+			472					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.1414C>A	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768808	0.69878	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.52754	0.65;0.65;0.65	5.36	3.52	0.40303	.	0.000000	0.85682	D	0.000000	T	0.58409	0.2120	L	0.55990	1.75	0.80722	D	1	D	0.64830	0.994	P	0.60286	0.872	T	0.55842	-0.8077	10	0.39692	T	0.17	.	13.8786	0.63670	0.3955:0.6045:0.0:0.0	.	472	Q9UJT9	FBXL7_HUMAN	S	472;425;460	ENSP00000423630:R472S;ENSP00000425184:R425S;ENSP00000329632:R460S	ENSP00000329632:R460S	R	+	1	0	FBXL7	15990233	1.000000	0.71417	0.971000	0.41717	0.964000	0.63967	3.086000	0.50159	0.589000	0.29677	0.650000	0.86243	CGC		0.592	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		9	26	1	0	1.12685e-05	1	1.17097e-05	9	26				
MED1	5469	broad.mit.edu	37	17	37566455	37566455	+	Silent	SNP	G	G	A	rs148664556	byFrequency	TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:37566455G>A	ENST00000300651.6	-	17	2242	c.2019C>T	c.(2017-2019)tcC>tcT	p.S673S	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGGGTGAGCCGGAAGAGGAGT	0.473										HNSCC(31;0.082)			G|||	3	0.000599042	0.0023	0.0	5008	,	,		19077	0.0		0.0	False		,,,				2504	0.0				Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(2017-2019)tcC>tcT		mediator complex subunit 1		G		6,4400	11.4+/-27.6	0,6,2197	90.0	93.0	92.0		2019	-5.3	0.9	17	dbSNP_134	92	0,8600		0,0,4300	no	coding-synonymous	MED1	NM_004774.3		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		673/1582	37566455	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37566455G>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2019C>T	17.37:g.37566455G>A		HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.S673S	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	2242	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	673	S -> F (in Ref. 9; AAC41736).		Interaction with ESR1.|Interaction with GATA1 (By similarity).|Interaction with PPARGC1A and THRA.|Interaction with VDR.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000300651.6	37	c.2019C>T	CCDS11336.1																																																																																				0.473	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		24	134	0	0	0	1	0	24	134				
GPR52	9293	broad.mit.edu	37	1	174417406	174417406	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:174417406C>G	ENST00000367685.2	+	1	195	c.157C>G	c.(157-159)Ctg>Gtg	p.L53V	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	53					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						GCTGACATTTCTGATCATTGC	0.443																																					Ovarian(92;924 1390 1930 16467 40583)	ENST00000367685.2																			0				breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						c.(157-159)Ctg>Gtg		G protein-coupled receptor 52							277.0	241.0	253.0					1																	174417406		2203	4300	6503	SO:0001583	missense	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174417406C>G	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.157C>G	1.37:g.174417406C>G	ENSP00000356658:p.Leu53Val					RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron	p.L53V	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN			1	195	+			53					O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	ENST00000367685.2	37	c.157C>G	CCDS30941.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.642271	0.29246	.	.	ENSG00000203737	ENST00000367685	T	0.37235	1.21	5.67	2.38	0.29361	.	0.000000	0.53938	D	0.000053	T	0.27169	0.0666	L	0.29908	0.895	0.27308	N	0.957394	P	0.49862	0.929	P	0.46362	0.514	T	0.09574	-1.0668	10	0.22109	T	0.4	-5.6387	9.2399	0.37489	0.0:0.5927:0.0:0.4073	.	53	Q9Y2T5	GPR52_HUMAN	V	53	ENSP00000356658:L53V	ENSP00000356658:L53V	L	+	1	2	GPR52	172684029	0.998000	0.40836	0.958000	0.39756	0.981000	0.71138	1.145000	0.31577	0.765000	0.33221	0.650000	0.86243	CTG		0.443	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		9	115	0	0	0	1	0	9	115				
FBXL6	26233	broad.mit.edu	37	8	145580332	145580332	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr8:145580332G>A	ENST00000331890.5	-	6	985	c.921C>T	c.(919-921)acC>acT	p.T307T	FBXL6_ENST00000526524.1_5'UTR|SLC52A2_ENST00000530047.1_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|SLC52A2_ENST00000526752.1_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|TMEM249_ENST00000531225.1_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|FBXL6_ENST00000455319.2_Silent_p.T301T|TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000540505.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	307					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GGTTGATGCCGGTGCTCACCT	0.657																																						ENST00000331890.5																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(919-921)acC>acT		F-box and leucine-rich repeat protein 6							64.0	63.0	63.0					8																	145580332		2203	4300	6503	SO:0001819	synonymous_variant	26233				proteolysis		ubiquitin-protein ligase activity	g.chr8:145580332G>A	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"""F-boxes / Leucine-rich repeats"""	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.921C>T	8.37:g.145580332G>A						FBXL6_ENST00000455319.2_Silent_p.T301T|FBXL6_ENST00000526524.1_5'UTR	p.T307T	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		6	985	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		307					Q53G43|Q9H5W9|Q9UKC7	Silent	SNP	ENST00000331890.5	37	c.921C>T	CCDS6422.1																																																																																				0.657	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555		42	71	0	0	0	1	0	42	71				
TRBV29-1	28558	broad.mit.edu	37	7	142448589	142448589	+	RNA	SNP	C	C	T	rs267601346		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:142448589C>T	ENST00000422143.2	+	0	250									T cell receptor beta variable 29-1																		TGACACTGATCGCAACTGCAA	0.507																																						ENST00000422143.2																			0																				73.0	70.0	71.0					7																	142448589		1990	4193	6183			28558							g.chr7:142448589C>T	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448589C>T														0	250	+									RNA	SNP	ENST00000422143.2	37																																																																																						0.507	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		7	51	0	0	0	1	0	7	51				
KLHL4	56062	broad.mit.edu	37	X	86887271	86887271	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:86887271G>A	ENST00000373119.4	+	7	1531	c.1386G>A	c.(1384-1386)atG>atA	p.M462I	KLHL4_ENST00000373114.4_Missense_Mutation_p.M462I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	462						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TTGGCACCATGAATGGCCGTA	0.393																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(1384-1386)atG>atA		kelch-like family member 4							100.0	84.0	90.0					X																	86887271		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86887271G>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1386G>A	X.37:g.86887271G>A	ENSP00000362211:p.Met462Ile					KLHL4_ENST00000373114.4_Missense_Mutation_p.M462I	p.M462I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			7	1531	+			462					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1386G>A	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568857	0.86439	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	D;D	0.84070	-1.8;-1.8	5.32	5.32	0.75619	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.92541	0.7631	M	0.91196	3.185	0.80722	D	1	D;D	0.59767	0.986;0.97	D;P	0.67103	0.949;0.878	D	0.93625	0.6951	10	0.52906	T	0.07	.	16.9539	0.86253	0.0:0.0:1.0:0.0	.	462;462	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	I	462	ENSP00000362211:M462I;ENSP00000362206:M462I	ENSP00000362206:M462I	M	+	3	0	KLHL4	86773927	1.000000	0.71417	0.909000	0.35828	0.969000	0.65631	9.225000	0.95219	2.211000	0.71520	0.506000	0.49869	ATG		0.393	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			10	71	0	0	0	1	0	10	71				
RAPGEF2	9693	broad.mit.edu	37	4	160274813	160274813	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr4:160274813G>A	ENST00000264431.4	+	22	4202	c.3783G>A	c.(3781-3783)caG>caA	p.Q1261Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1261					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ATAATATACAGACGATCCAGC	0.527																																						ENST00000264431.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70						c.(3781-3783)caG>caA		Rap guanine nucleotide exchange factor (GEF) 2							101.0	107.0	105.0					4																	160274813		2000	4179	6179	SO:0001819	synonymous_variant	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160274813G>A	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.3783G>A	4.37:g.160274813G>A							p.Q1261Q	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	22	4202	+	all_hematologic(180;0.24)		1261					D3DP27	Silent	SNP	ENST00000264431.4	37	c.3783G>A	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	7.723	0.697537	0.15106	.	.	ENSG00000109756	ENST00000505026	.	.	.	5.92	3.17	0.36434	.	.	.	.	.	T	0.58963	0.2159	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53933	-0.8368	4	.	.	.	.	9.3008	0.37845	0.3869:0.0:0.6131:0.0	.	.	.	.	N	196	.	.	D	+	1	0	RAPGEF2	160494263	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	2.045000	0.41250	0.792000	0.33850	0.650000	0.86243	GAC		0.527	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		43	69	0	0	0	1	0	43	69				
CFC1	55997	broad.mit.edu	37	2	131356270	131356270	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:131356270G>A	ENST00000259216.4	-	3	454	c.192C>T	c.(190-192)agC>agT	p.S64S		NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN	cripto, FRL-1, cryptic family 1	64					determination of left/right symmetry (GO:0007368)|gastrulation (GO:0007369)|nodal signaling pathway (GO:0038092)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nodal binding (GO:0038100)			endometrium(1)|lung(4)	5	Colorectal(110;0.1)					AGCCCTCGGCGCTCCCAGTCA	0.622																																						ENST00000259216.4																			0				endometrium(1)|lung(4)	5						c.(190-192)agC>agT		cripto, FRL-1, cryptic family 1							18.0	32.0	27.0					2																	131356270		2169	4265	6434	SO:0001819	synonymous_variant	55997				determination of left/right symmetry|gastrulation	anchored to membrane|extracellular region|plasma membrane		g.chr2:131356270G>A	AF312769	CCDS2162.1, CCDS74573.1, CCDS74574.1	2q21.2	2014-02-04			ENSG00000136698	ENSG00000136698			18292	protein-coding gene	gene with protein product		605194	"""heterotaxy 2 (autosomal dominant)"""	HTX2		11062482, 10858660	Standard	NM_032545		Approved	CRYPTIC, HTX2	uc002tro.2	P0CG37	OTTHUMG00000131628	ENST00000259216.4:c.192C>T	2.37:g.131356270G>A							p.S64S	NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN			3	454	-	Colorectal(110;0.1)		64					B2RCY0|B9EJD3|Q53T05|Q9GZR3	Silent	SNP	ENST00000259216.4	37	c.192C>T	CCDS2162.1																																																																																				0.622	CFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333367.1	NM_032545		10	180	0	0	0	1	0	10	180				
LDHAL6A	160287	broad.mit.edu	37	11	18487234	18487234	+	Missense_Mutation	SNP	C	C	T	rs201761125		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:18487234C>T	ENST00000280706.2	+	3	1092	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C	LDHAL6A_ENST00000396213.3_Missense_Mutation_p.R99C	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	99					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						AGCAGGTGCACGCCAGAAAAA	0.388																																						ENST00000280706.2																			0				large_intestine(3)|lung(9)|urinary_tract(1)	13						c.(295-297)Cgc>Tgc		lactate dehydrogenase A-like 6A	NADH(DB00157)	C	CYS/ARG,CYS/ARG	3,4395	6.2+/-15.9	0,3,2196	119.0	115.0	117.0		295,295	3.4	0.0	11		117	0,8586		0,0,4293	no	missense,missense	LDHAL6A	NM_001144071.1,NM_144972.4	180,180	0,3,6489	TT,TC,CC		0.0,0.0682,0.0231	probably-damaging,probably-damaging	99/333,99/333	18487234	3,12981	2199	4293	6492	SO:0001583	missense	160287				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18487234C>T	AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.295C>T	11.37:g.18487234C>T	ENSP00000280706:p.Arg99Cys					LDHAL6A_ENST00000396213.3_Missense_Mutation_p.R99C	p.R99C	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN			3	1092	+			99					D3DQY5	Missense_Mutation	SNP	ENST00000280706.2	37	c.295C>T	CCDS7841.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724833	0.48833	6.82E-4	0.0	ENSG00000166800	ENST00000396213;ENST00000280706	D;D	0.88975	-2.45;-2.45	4.36	3.43	0.39272	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000002	D	0.93400	0.7895	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.93022	0.6441	10	0.62326	D	0.03	.	11.8046	0.52147	0.0:0.8057:0.1943:0.0	.	99	Q6ZMR3	LDH6A_HUMAN	C	99	ENSP00000379516:R99C;ENSP00000280706:R99C	ENSP00000280706:R99C	R	+	1	0	LDHAL6A	18443810	0.979000	0.34478	0.039000	0.18376	0.969000	0.65631	2.566000	0.45948	0.795000	0.33922	0.585000	0.79938	CGC		0.388	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395904.1	NM_144972		16	99	0	0	0	1	0	16	99				
TPH2	121278	broad.mit.edu	37	12	72425055	72425055	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:72425055G>A	ENST00000333850.3	+	10	1323	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	394					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TTTCTGACAAGGCATGTGTGA	0.413																																						ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1180-1182)aaG>aaA		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						111.0	118.0	116.0					12																	72425055		2203	4300	6503	SO:0001819	synonymous_variant	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72425055G>A	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1182G>A	12.37:g.72425055G>A							p.K394K	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			10	1323	+			394					A6NGA4|Q14CB0	Silent	SNP	ENST00000333850.3	37	c.1182G>A	CCDS31859.1																																																																																				0.413	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		16	133	0	0	0	1	0	16	133				
NT5DC1	221294	broad.mit.edu	37	6	116422175	116422175	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:116422175G>C	ENST00000319550.4	+	1	164	c.82G>C	c.(82-84)Gag>Cag	p.E28Q		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	28							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		CAACCTGCCCGAGAGCGCCCC	0.692																																					Colon(128;1440 1664 38087 41475 42869)	ENST00000319550.4																			0				large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8						c.(82-84)Gag>Cag		5'-nucleotidase domain containing 1							25.0	24.0	24.0					6																	116422175		2200	4296	6496	SO:0001583	missense	221294						hydrolase activity|metal ion binding	g.chr6:116422175G>C	BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic II-like 1"""	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.82G>C	6.37:g.116422175G>C	ENSP00000326858:p.Glu28Gln						p.E28Q	NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)	1	164	+		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)	28					B2RND9|B3KR35|Q6XYD5	Missense_Mutation	SNP	ENST00000319550.4	37	c.82G>C	CCDS5104.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912234	0.52439	.	.	ENSG00000178425	ENST00000368618;ENST00000319550;ENST00000419791	T;T	0.23754	1.89;1.89	4.47	2.48	0.30137	HAD-like domain (1);	0.332317	0.30142	N	0.010302	T	0.11965	0.0291	L	0.45581	1.43	0.41835	D	0.990096	B;B	0.22414	0.069;0.046	B;B	0.32211	0.142;0.047	T	0.05194	-1.0900	10	0.19590	T	0.45	-23.2557	13.4421	0.61119	0.0:0.4092:0.5908:0.0	.	28;28	A8K2Z3;Q5TFE4	.;NT5D1_HUMAN	Q	28	ENSP00000326858:E28Q;ENSP00000393578:E28Q	ENSP00000326858:E28Q	E	+	1	0	NT5DC1	116528868	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.830000	0.39131	0.982000	0.38575	0.313000	0.20887	GAG		0.692	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	NM_152729		5	34	0	0	0	1	0	5	34				
ARAP1	116985	broad.mit.edu	37	11	72410572	72410572	+	Silent	SNP	A	A	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:72410572A>G	ENST00000393609.3	-	17	2530	c.2328T>C	c.(2326-2328)ctT>ctC	p.L776L	ARAP1_ENST00000426523.1_Silent_p.L531L|ARAP1_ENST00000334211.8_Silent_p.L531L|ARAP1_ENST00000495878.1_5'UTR|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000429686.1_Silent_p.L470L|ARAP1_ENST00000455638.2_Silent_p.L776L|ARAP1_ENST00000393605.3_Silent_p.L536L|ARAP1_ENST00000359373.5_Silent_p.L776L	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	776	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCCCGTCACCAAGGACACACC	0.632																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(2326-2328)ctT>ctC		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							35.0	32.0	33.0					11																	72410572		2200	4293	6493	SO:0001819	synonymous_variant	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72410572A>G	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2328T>C	11.37:g.72410572A>G						ARAP1_ENST00000455638.2_Silent_p.L776L|ARAP1_ENST00000393609.3_Silent_p.L776L|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000429686.1_Silent_p.L470L|ARAP1_ENST00000426523.1_Silent_p.L531L|ARAP1_ENST00000393605.3_Silent_p.L536L|ARAP1_ENST00000334211.8_Silent_p.L531L	p.L776L			Q96P48	ARAP1_HUMAN			17	3179	-			776			PH 3.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Silent	SNP	ENST00000393609.3	37	c.2328T>C	CCDS41687.1																																																																																				0.632	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		9	28	0	0	0	1	0	9	28				
SULF2	55959	broad.mit.edu	37	20	46305857	46305857	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr20:46305857C>T	ENST00000359930.4	-	9	2066	c.1215G>A	c.(1213-1215)atG>atA	p.M405I	SULF2_ENST00000484875.1_Missense_Mutation_p.M405I|SULF2_ENST00000467815.1_Missense_Mutation_p.M405I|SULF2_ENST00000361612.4_Missense_Mutation_p.M405I|CTD-2653D5.1_ENST00000526566.2_RNA	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	405					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GCCAGACCCTCATCTTCTTTT	0.617																																						ENST00000359930.4																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1213-1215)atG>atA		sulfatase 2							73.0	79.0	77.0					20																	46305857		2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46305857C>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1215G>A	20.37:g.46305857C>T	ENSP00000353007:p.Met405Ile					SULF2_ENST00000467815.1_Missense_Mutation_p.M405I|SULF2_ENST00000484875.1_Missense_Mutation_p.M405I|SULF2_ENST00000361612.4_Missense_Mutation_p.M405I	p.M405I	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			9	2066	-			405					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.1215G>A	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	C	8.058	0.767538	0.15983	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.98958	-5.27;-5.27;-5.27;-5.27	4.95	1.81	0.25067	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.852949	0.10724	N	0.641395	D	0.93249	0.7849	N	0.05078	-0.115	0.20074	N	0.999938	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	D	0.88188	0.2875	10	0.37606	T	0.19	-5.5361	3.6981	0.08372	0.1358:0.5819:0.132:0.1503	.	405;405	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	I	405	ENSP00000353007:M405I;ENSP00000418290:M405I;ENSP00000354662:M405I;ENSP00000418442:M405I	ENSP00000353007:M405I	M	-	3	0	SULF2	45739264	0.006000	0.16342	0.978000	0.43139	0.725000	0.41563	-0.499000	0.06413	0.566000	0.29273	0.651000	0.88453	ATG		0.617	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		18	90	0	0	0	1	0	18	90				
NR2E1	7101	broad.mit.edu	37	6	108497868	108497868	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:108497868G>A	ENST00000368986.4	+	4	1129	c.421G>A	c.(421-423)Ggc>Agc	p.G141S	NR2E1_ENST00000484978.1_3'UTR|NR2E1_ENST00000368983.3_Missense_Mutation_p.G178S	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	141					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GGAGCCGCACGGCCTGGAGCT	0.716																																						ENST00000368986.4																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30						c.(421-423)Ggc>Agc		nuclear receptor subfamily 2, group E, member 1							9.0	11.0	11.0					6																	108497868		2186	4256	6442	SO:0001583	missense	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108497868G>A	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.421G>A	6.37:g.108497868G>A	ENSP00000357982:p.Gly141Ser					NR2E1_ENST00000484978.1_3'UTR|NR2E1_ENST00000368983.3_Missense_Mutation_p.G178S	p.G141S	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	4	1129	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	141					Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	37	c.421G>A	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.570308	0.45798	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	T;T	0.48201	0.82;0.82	5.76	1.28	0.21552	Nuclear hormone receptor, ligand-binding (1);	0.760089	0.13130	N	0.411539	T	0.15869	0.0382	L	0.39898	1.24	0.37964	D	0.933057	B	0.15719	0.014	B	0.04013	0.001	T	0.11817	-1.0572	10	0.13470	T	0.59	.	8.8109	0.34967	0.5242:0.0:0.4758:0.0	.	141	Q9Y466	NR2E1_HUMAN	S	141;178	ENSP00000357982:G141S;ENSP00000357979:G178S	ENSP00000357979:G178S	G	+	1	0	NR2E1	108604561	0.962000	0.33011	0.994000	0.49952	0.923000	0.55619	1.656000	0.37355	0.321000	0.23259	-0.345000	0.07892	GGC		0.716	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			3	10	0	0	0	1	0	3	10				
ACAD8	27034	broad.mit.edu	37	11	134129581	134129581	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:134129581C>T	ENST00000281182.4	+	6	753	c.647C>T	c.(646-648)tCa>tTa	p.S216L	ACAD8_ENST00000537423.1_Missense_Mutation_p.S139L|ACAD8_ENST00000543332.1_Missense_Mutation_p.S118L|ACAD8_ENST00000374752.4_Missense_Mutation_p.S89L|ACAD8_ENST00000524547.1_3'UTR	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	216					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	AAGGGCATCTCATGCATAGTT	0.532																																					GBM(65;238 1125 33403 41853 48889)	ENST00000281182.4																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(646-648)tCa>tTa		acyl-CoA dehydrogenase family, member 8							127.0	124.0	125.0					11																	134129581		2201	4297	6498	SO:0001583	missense	27034				branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr11:134129581C>T	AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"""acyl-Coenzyme A dehydrogenase family, member 8"""			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.647C>T	11.37:g.134129581C>T	ENSP00000281182:p.Ser216Leu					ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000374752.4_Missense_Mutation_p.S89L|ACAD8_ENST00000537423.1_Missense_Mutation_p.S139L|ACAD8_ENST00000543332.1_Missense_Mutation_p.S118L	p.S216L	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	6	753	+	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)	216					B7Z5W4|Q6ZWP6|Q9BUS8	Missense_Mutation	SNP	ENST00000281182.4	37	c.647C>T	CCDS8498.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422764	0.83559	.	.	ENSG00000151498	ENST00000281182;ENST00000537423;ENST00000543332;ENST00000374752;ENST00000537915	D;D;D;D	0.99214	-5.57;-5.57;-5.57;-5.57	5.83	5.83	0.93111	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	H	0.97540	4.025	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;P;D;D;D	0.87578	0.998;0.799;0.998;0.991;0.995	D	0.97523	1.0074	10	0.87932	D	0	.	20.1067	0.97897	0.0:1.0:0.0:0.0	.	157;139;118;89;216	B7Z767;B7Z5W4;B7Z9L5;Q6ZWP6;Q9UKU7	.;.;.;.;ACAD8_HUMAN	L	216;139;118;89;178	ENSP00000281182:S216L;ENSP00000443763:S139L;ENSP00000438302:S118L;ENSP00000363884:S89L	ENSP00000281182:S216L	S	+	2	0	ACAD8	133634791	1.000000	0.71417	0.964000	0.40570	0.246000	0.25737	7.818000	0.86416	2.753000	0.94483	0.655000	0.94253	TCA		0.532	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384		21	106	0	0	0	1	0	21	106				
PATZ1	23598	broad.mit.edu	37	22	31731763	31731763	+	Silent	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr22:31731763C>T	ENST00000266269.5	-	3	2051	c.1422G>A	c.(1420-1422)ggG>ggA	p.G474G	RP3-400N23.6_ENST00000440456.1_RNA|RP3-400N23.6_ENST00000451161.1_RNA|PATZ1_ENST00000405309.3_Silent_p.G474G|PATZ1_ENST00000351933.4_Silent_p.G474G	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	474					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GCAAGTACTTCCCACACACCT	0.567																																						ENST00000266269.5																		EWSR1/PATZ1(2)	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						c.(1420-1422)ggG>ggA		POZ (BTB) and AT hook containing zinc finger 1							109.0	97.0	101.0					22																	31731763		2203	4300	6503	SO:0001819	synonymous_variant	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31731763C>T	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1422G>A	22.37:g.31731763C>T						PATZ1_ENST00000405309.3_Silent_p.G474G|PATZ1_ENST00000351933.4_Silent_p.G474G|RP3-400N23.6_ENST00000451161.1_RNA|RP3-400N23.6_ENST00000440456.1_RNA	p.G474G	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN			3	2051	-			474					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Silent	SNP	ENST00000266269.5	37	c.1422G>A	CCDS13894.1																																																																																				0.567	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		7	107	0	0	0	1	0	7	107				
HDAC9	9734	broad.mit.edu	37	7	18688178	18688178	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:18688178A>G	ENST00000432645.2	+	10	1330	c.1330A>G	c.(1330-1332)Aga>Gga	p.R444G	HDAC9_ENST00000524023.1_Missense_Mutation_p.R367G|HDAC9_ENST00000417496.2_Missense_Mutation_p.R442G|HDAC9_ENST00000406072.1_Missense_Mutation_p.R431G|HDAC9_ENST00000441542.2_Missense_Mutation_p.R447G|HDAC9_ENST00000456174.2_Missense_Mutation_p.R416G|HDAC9_ENST00000428307.2_Missense_Mutation_p.R400G|HDAC9_ENST00000405010.3_Missense_Mutation_p.R444G|HDAC9_ENST00000401921.1_Missense_Mutation_p.R403G|HDAC9_ENST00000406451.4_Missense_Mutation_p.R444G	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	444					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GCCCCGTCACAGACCCCTGAA	0.498																																						ENST00000406451.3																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(1330-1332)Aga>Gga		histone deacetylase 9	Valproic Acid(DB00313)						81.0	82.0	82.0					7																	18688178		1955	4123	6078	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18688178A>G	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1330A>G	7.37:g.18688178A>G	ENSP00000410337:p.Arg444Gly					HDAC9_ENST00000441542.2_Missense_Mutation_p.R447G|HDAC9_ENST00000406072.1_Missense_Mutation_p.R431G|HDAC9_ENST00000524023.1_Missense_Mutation_p.R367G|HDAC9_ENST00000432645.2_Missense_Mutation_p.R444G|HDAC9_ENST00000405010.3_Missense_Mutation_p.R444G|HDAC9_ENST00000401921.1_Missense_Mutation_p.R403G|HDAC9_ENST00000417496.2_Missense_Mutation_p.R442G|HDAC9_ENST00000456174.2_Missense_Mutation_p.R416G|HDAC9_ENST00000428307.2_Missense_Mutation_p.R400G	p.R444G	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN			11	1480	+	all_lung(11;0.187)		444					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.1330A>G	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	A	18.02	3.529237	0.64860	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.69435	-0.21;-0.07;-0.38;-0.2;-0.22;-0.4;-0.38;-0.38;-0.02;-0.24	5.48	4.29	0.51040	.	0.000000	0.64402	D	0.000008	T	0.81650	0.4867	M	0.82517	2.595	0.54753	D	0.999983	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.999;0.999;0.999;0.998;0.999;0.993;0.992;0.996;0.999;0.993;0.996;1.0;0.993	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.987;0.991;0.994;0.994;0.987;0.994;0.977;0.974;0.99;0.994;0.977;0.99;0.996;0.977	T	0.83198	-0.0080	10	0.87932	D	0	-20.2433	11.7728	0.51968	0.7214:0.2786:0.0:0.0	.	367;416;444;431;442;444;447;403;447;444;416;444;444;422	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	G	442;445;444;444;400;431;403;444;447;416;367;444	ENSP00000401669:R442G;ENSP00000384382:R444G;ENSP00000384657:R444G;ENSP00000395655:R400G;ENSP00000384017:R431G;ENSP00000383912:R403G;ENSP00000410337:R444G;ENSP00000408617:R447G;ENSP00000388568:R416G;ENSP00000430036:R367G	ENSP00000262069:R445G	R	+	1	2	HDAC9	18654703	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.410000	0.44592	0.876000	0.35872	0.455000	0.32223	AGA		0.498	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			14	83	0	0	0	1	0	14	83				
PRR23B	389151	broad.mit.edu	37	3	138739189	138739189	+	Silent	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr3:138739189C>T	ENST00000329447.5	-	1	579	c.315G>A	c.(313-315)ctG>ctA	p.L105L	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	105										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGACGGAGCTCAGGAGGACCT	0.652																																						ENST00000329447.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(313-315)ctG>ctA		proline rich 23B							53.0	51.0	51.0					3																	138739189		2203	4300	6503	SO:0001819	synonymous_variant	389151							g.chr3:138739189C>T	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.315G>A	3.37:g.138739189C>T						MRPS22_ENST00000495075.1_Intron	p.L105L	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN			1	579	-			105					B2RNV9	Silent	SNP	ENST00000329447.5	37	c.315G>A	CCDS33868.1																																																																																				0.652	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		8	80	0	0	0	1	0	8	80				
BAGE2	85319	broad.mit.edu	37	21	11039231	11039231	+	RNA	SNP	A	A	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr21:11039231A>G	ENST00000470054.1	-	0	972							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCTTTGGATACCACTGTTTT	0.408																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039231A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039231A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	972	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.408	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		11	504	0	0	0	1	0	11	504				
BCORL1	63035	broad.mit.edu	37	X	129148458	129148458	+	Silent	SNP	C	C	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:129148458C>A	ENST00000218147.7	+	4	1907	c.1710C>A	c.(1708-1710)gcC>gcA	p.A570A	BCORL1_ENST00000540052.1_Silent_p.A570A|BCORL1_ENST00000359304.2_Silent_p.A570A|BCORL1_ENST00000303743.5_Silent_p.A570A			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	570	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGCTGCCAGCCCCCAGTGGGA	0.617																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(1708-1710)gcC>gcA		BCL6 corepressor-like 1							58.0	59.0	58.0					X																	129148458		2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129148458C>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1710C>A	X.37:g.129148458C>A						BCORL1_ENST00000359304.2_Silent_p.A570A|BCORL1_ENST00000218147.7_Silent_p.A570A|BCORL1_ENST00000303743.5_Silent_p.A570A	p.A570A	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	1754	+			570			Pro-rich.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.1710C>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	c	4.622	0.115627	0.08831	.	.	ENSG00000085185	ENST00000441294	.	.	.	5.5	3.33	0.38152	.	.	.	.	.	T	0.52901	0.1763	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47724	-0.9095	4	.	.	.	-9.2624	5.1387	0.14948	0.193:0.5966:0.1184:0.092	.	.	.	.	T	6	.	.	P	+	1	0	BCORL1	128976139	0.048000	0.20356	1.000000	0.80357	0.873000	0.50193	-0.009000	0.12765	1.062000	0.40625	0.525000	0.51046	CCC		0.617	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		24	83	1	0	1.10513e-12	1	1.18776e-12	24	83				
ATP2C2	9914	broad.mit.edu	37	16	84472848	84472848	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr16:84472848G>A	ENST00000262429.4	+	12	1152	c.1063G>A	c.(1063-1065)Gcc>Acc	p.A355T	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.A355T	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	355					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCTGCGGATGGCCAAGAAGCG	0.567																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(1063-1065)Gcc>Acc		ATPase, Ca++ transporting, type 2C, member 2							78.0	85.0	83.0					16																	84472848		2118	4230	6348	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84472848G>A	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1063G>A	16.37:g.84472848G>A	ENSP00000262429:p.Ala355Thr					ATP2C2_ENST00000262429.4_Missense_Mutation_p.A355T|ATP2C2_ENST00000420010.2_3'UTR	p.A355T			O75185	AT2C2_HUMAN			12	1152	+			355					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.1063G>A	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996107	0.93167	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.92446	-3.04;-3.04	4.91	4.91	0.64330	ATPase, P-type, ATPase-associated domain (1);	0.103679	0.42420	D	0.000703	D	0.96889	0.8984	M	0.92784	3.345	0.58432	D	0.999999	D;D;D;D	0.71674	0.998;0.989;0.989;0.991	D;D;D;D	0.77557	0.99;0.925;0.959;0.967	D	0.97258	0.9902	10	0.48119	T	0.1	.	17.0508	0.86518	0.0:0.0:1.0:0.0	.	355;204;372;355	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	T	355;355;204	ENSP00000397925:A355T;ENSP00000262429:A355T	ENSP00000262429:A355T	A	+	1	0	ATP2C2	83030349	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	9.090000	0.94144	2.255000	0.74692	0.561000	0.74099	GCC		0.567	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		17	88	0	0	0	1	0	17	88				
CHD6	84181	broad.mit.edu	37	20	40161822	40161822	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr20:40161822C>T	ENST00000373233.3	-	3	598	c.421G>A	c.(421-423)Gag>Aag	p.E141K	CHD6_ENST00000309279.7_Missense_Mutation_p.E141K|CHD6_ENST00000373222.3_Missense_Mutation_p.E176K	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	141	Lys-rich.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCCTTGTGCTCCTTGGCCTTC	0.572																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(421-423)Gag>Aag		chromodomain helicase DNA binding protein 6							332.0	314.0	320.0					20																	40161822		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40161822C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.421G>A	20.37:g.40161822C>T	ENSP00000362330:p.Glu141Lys					CHD6_ENST00000309279.7_Missense_Mutation_p.E141K|CHD6_ENST00000373222.3_Missense_Mutation_p.E176K	p.E141K	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			3	598	-		Myeloproliferative disorder(115;0.00425)	141			Lys-rich.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.421G>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303235	0.60195	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222;ENST00000440647	D;D;T	0.94828	-2.03;-3.53;-1.44	4.1	4.1	0.47936	.	0.000000	0.49916	D	0.000125	D	0.90490	0.7021	N	0.24115	0.695	0.40579	D	0.981374	B;B	0.33022	0.394;0.128	B;B	0.37650	0.255;0.039	D	0.90504	0.4476	10	0.49607	T	0.09	-22.8114	14.6428	0.68737	0.0:1.0:0.0:0.0	.	176;141	Q8TD26-2;Q8TD26	.;CHD6_HUMAN	K	141;141;176;141	ENSP00000362330:E141K;ENSP00000308684:E141K;ENSP00000362319:E176K	ENSP00000308684:E141K	E	-	1	0	CHD6	39595236	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.529000	0.45632	2.565000	0.86533	0.650000	0.86243	GAG		0.572	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			9	330	0	0	0	1	0	9	330				
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000470386.1_5'Flank|GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																						ENST00000263956.3																			1	Substitution - coding silent(1)	p.E103E(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(307-309)gaG>gaA		general transcription factor IIIC, polypeptide 3, 102kDa							65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657782C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T						GTF3C3_ENST00000409364.3_Silent_p.E103E	p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	398	-			103			Glu-rich.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.309G>A	CCDS2316.1																																																																																				0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			4	109	0	0	0	1	0	4	109				
PKIG	11142	broad.mit.edu	37	20	43243305	43243305	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr20:43243305G>A	ENST00000372889.1	+	5	693	c.108G>A	c.(106-108)agG>agA	p.R36R	PKIG_ENST00000372894.3_Silent_p.R36R|PKIG_ENST00000372891.3_Silent_p.R36R|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000349959.3_Silent_p.R36R|PKIG_ENST00000372882.3_Silent_p.R36R|PKIG_ENST00000372886.1_Silent_p.R36R|PKIG_ENST00000372887.1_Silent_p.R36R|PKIG_ENST00000477390.1_3'UTR|PKIG_ENST00000372892.3_Silent_p.R36R	NM_001281444.1	NP_001268373.1	Q9Y2B9	IPKG_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor gamma	36					negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|signal transduction (GO:0007165)		cAMP-dependent protein kinase inhibitor activity (GO:0004862)			breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			TGAGCGTGAGGAAGCTGGCTG	0.642																																						ENST00000372889.1																			0				breast(1)|urinary_tract(1)	2						c.(106-108)agG>agA		protein kinase (cAMP-dependent, catalytic) inhibitor gamma							90.0	80.0	83.0					20																	43243305		2203	4300	6503	SO:0001819	synonymous_variant	11142						cAMP-dependent protein kinase inhibitor activity|protein binding	g.chr20:43243305G>A	AB019517	CCDS13334.1	20q13.12-q13.13	2008-07-03			ENSG00000168734	ENSG00000168734			9019	protein-coding gene	gene with protein product		604932				10880337	Standard	NM_181805		Approved		uc002xmi.3	Q9Y2B9	OTTHUMG00000033065	ENST00000372889.1:c.108G>A	20.37:g.43243305G>A						PKIG_ENST00000372887.1_Silent_p.R36R|PKIG_ENST00000372882.3_Silent_p.R36R|PKIG_ENST00000372891.3_Silent_p.R36R|PKIG_ENST00000349959.3_Silent_p.R36R|PKIG_ENST00000372894.3_Silent_p.R36R|Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000372892.3_Silent_p.R36R|PKIG_ENST00000372886.1_Silent_p.R36R|PKIG_ENST00000477390.1_3'UTR	p.R36R			Q9Y2B9	IPKG_HUMAN	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)		5	693	+		Myeloproliferative disorder(115;0.0122)	36						Silent	SNP	ENST00000372889.1	37	c.108G>A	CCDS13334.1																																																																																				0.642	PKIG-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127804.1			10	61	0	0	0	1	0	10	61				
ZBED9	114821	broad.mit.edu	37	6	28541039	28541039	+	Missense_Mutation	SNP	C	C	T	rs541386862		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:28541039C>T	ENST00000452236.2	-	4	3244	c.2627G>A	c.(2626-2628)cGa>cAa	p.R876Q	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ctgaatacgtcgagctatggt	0.383													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20097	0.0		0.0	False		,,,				2504	0.0					ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(2626-2628)cGa>cAa		SCAN domain containing 3							168.0	162.0	164.0					6																	28541039		2203	4299	6502	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28541039C>T																												ENST00000452236.2:c.2627G>A	6.37:g.28541039C>T	ENSP00000395259:p.Arg876Gln						p.R876Q	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			4	3244	-			876						Missense_Mutation	SNP	ENST00000452236.2	37	c.2627G>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514792	0.64634	.	.	ENSG00000232040	ENST00000452236	T	0.01854	4.6	2.12	2.12	0.27331	.	0.000000	0.39985	U	0.001209	T	0.03348	0.0097	M	0.76938	2.355	0.25829	N	0.984195	D	0.63046	0.992	P	0.59424	0.857	T	0.33650	-0.9860	10	0.39692	T	0.17	.	7.8031	0.29187	0.0:1.0:0.0:0.0	.	876	Q6R2W3	SCND3_HUMAN	Q	876	ENSP00000395259:R876Q	ENSP00000395259:R876Q	R	-	2	0	SCAND3	28649018	0.992000	0.36948	0.999000	0.59377	0.998000	0.95712	1.844000	0.39269	1.498000	0.48600	0.549000	0.68633	CGA		0.383	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			28	151	0	0	0	1	0	28	151				
CDH13	1012	broad.mit.edu	37	16	83712013	83712013	+	Silent	SNP	G	G	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr16:83712013G>T	ENST00000566620.1	+	10	1775	c.1485G>T	c.(1483-1485)gtG>gtT	p.V495V	CDH13_ENST00000428848.3_Silent_p.V456V|CDH13_ENST00000268613.10_Silent_p.V542V	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	495	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGGGCAGCGTGCTGCTGACAG	0.617																																						ENST00000566620.1																			0				large_intestine(1)	1						c.(1483-1485)gtG>gtT		cadherin 13							62.0	66.0	65.0					16																	83712013		2121	4244	6365	SO:0001819	synonymous_variant	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83712013G>T	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1485G>T	16.37:g.83712013G>T						CDH13_ENST00000268613.10_Silent_p.V542V|CDH13_ENST00000428848.3_Silent_p.V456V	p.V495V	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	10	1775	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	495			Cadherin 4.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	c.1485G>T	CCDS58486.1																																																																																				0.617	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		10	52	1	0	2.17888e-05	1	2.2574e-05	10	52				
SEZ6L	23544	broad.mit.edu	37	22	26688618	26688618	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr22:26688618C>A	ENST00000248933.6	+	2	436	c.341C>A	c.(340-342)cCc>cAc	p.P114H	SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P114H|SEZ6L_ENST00000529632.2_Missense_Mutation_p.P114H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P114H|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P114H			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	114					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CACGCCTTGCCCCCCAAGAAG	0.652																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(340-342)cCc>cAc		seizure related 6 homolog (mouse)-like							42.0	36.0	38.0					22																	26688618		2203	4299	6502	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26688618C>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.341C>A	22.37:g.26688618C>A	ENSP00000248933:p.Pro114His					SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P114H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P114H|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P114H|SEZ6L_ENST00000248933.6_Missense_Mutation_p.P114H|SEZ6L_ENST00000403121.1_5'UTR	p.P114H	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			2	537	+			114					A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.341C>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.333481	0.41297	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	3.97	-1.46	0.08800	.	1.092780	0.07248	N	0.865384	T	0.21427	0.0516	N	0.08118	0	0.09310	N	1	P;P;P;D;P;P	0.54964	0.679;0.679;0.924;0.969;0.679;0.679	B;B;P;P;B;B	0.53146	0.237;0.237;0.634;0.719;0.237;0.237	T	0.23404	-1.0189	10	0.13108	T	0.6	.	8.4052	0.32610	0.0:0.5997:0.0:0.4003	.	114;114;114;114;114;114	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	H	114	ENSP00000384772:P114H;ENSP00000437037:P114H;ENSP00000354185:P114H;ENSP00000248933:P114H;ENSP00000342661:P114H	ENSP00000248933:P114H	P	+	2	0	SEZ6L	25018618	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.629000	0.24538	-0.291000	0.09012	0.508000	0.49915	CCC		0.652	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			5	21	1	0	0.014758	1	0.014758	5	21				
FCGBP	8857	broad.mit.edu	37	19	40433288	40433288	+	Silent	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:40433288C>T	ENST00000221347.6	-	2	988	c.981G>A	c.(979-981)gtG>gtA	p.V327V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	327	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGTCATAAGTCACTTCATTCC	0.567																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(979-981)gtG>gtA		Fc fragment of IgG binding protein							59.0	56.0	57.0					19																	40433288		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40433288C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.981G>A	19.37:g.40433288C>T							p.V327V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		2	988	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		327			IgGFc-binding.		O95784	Silent	SNP	ENST00000221347.6	37	c.981G>A	CCDS12546.1																																																																																				0.567	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		9	64	0	0	0	1	0	9	64				
PHLDA2	7262	broad.mit.edu	37	11	2950497	2950497	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:2950497G>A	ENST00000314222.4	-	1	188	c.98C>T	c.(97-99)tCc>tTc	p.S33F		NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN	pleckstrin homology-like domain, family A, member 2	33	PH.				apoptotic process (GO:0006915)|organ morphogenesis (GO:0009887)|placenta development (GO:0001890)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|regulation of gene expression (GO:0010468)|regulation of glycogen metabolic process (GO:0070873)	cytoplasm (GO:0005737)|membrane (GO:0016020)				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGCGGTCGGAGGTGAGCAC	0.667																																						ENST00000314222.4																			0				central_nervous_system(1)	1						c.(97-99)tCc>tTc		pleckstrin homology-like domain, family A, member 2							20.0	22.0	21.0					11																	2950497		2196	4298	6494	SO:0001583	missense	7262				apoptosis	cytoplasm|membrane		g.chr11:2950497G>A	AF035444	CCDS7741.1	11p15.4	2013-01-10	2003-09-26	2003-10-01	ENSG00000181649	ENSG00000181649		"""Pleckstrin homology (PH) domain containing"""	12385	protein-coding gene	gene with protein product		602131	"""tumor suppressing subtransferable candidate 3"""	TSSC3		9328465, 9403053	Standard	NM_003311		Approved	IPL, BWR1C, HLDA2	uc001lxa.1	Q53GA4	OTTHUMG00000010926	ENST00000314222.4:c.98C>T	11.37:g.2950497G>A	ENSP00000319231:p.Ser33Phe						p.S33F	NM_003311.3	NP_003302.1	Q53GA4	PHLA2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	188	-		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)	33			PH.		O00496	Missense_Mutation	SNP	ENST00000314222.4	37	c.98C>T	CCDS7741.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946927	0.53186	.	.	ENSG00000181649	ENST00000314222	T	0.46451	0.87	3.51	2.47	0.30058	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.766037	0.10931	U	0.618386	T	0.22589	0.0545	N	0.08118	0	0.22796	N	0.998721	P	0.44578	0.838	B	0.40165	0.321	T	0.05582	-1.0876	10	0.62326	D	0.03	-8.0958	7.3479	0.26674	0.0:0.1418:0.5637:0.2944	.	33	Q53GA4	PHLA2_HUMAN	F	33	ENSP00000319231:S33F	ENSP00000319231:S33F	S	-	2	0	PHLDA2	2907073	0.000000	0.05858	0.962000	0.40283	0.941000	0.58515	0.004000	0.13106	1.660000	0.50760	0.313000	0.20887	TCC		0.667	PHLDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030116.1	NM_003311		6	21	0	0	0	1	0	6	21				
PLAA	9373	broad.mit.edu	37	9	26910414	26910414	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:26910414C>T	ENST00000397292.3	-	12	1996	c.1579G>A	c.(1579-1581)Gca>Aca	p.A527T	PLAA_ENST00000520884.1_Missense_Mutation_p.A527T	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	527					inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GTTTTAGATGCAGCTGATCGG	0.303																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(1579-1581)Gca>Aca		phospholipase A2-activating protein							96.0	97.0	97.0					9																	26910414		2203	4299	6502	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26910414C>T	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1579G>A	9.37:g.26910414C>T	ENSP00000380460:p.Ala527Thr					PLAA_ENST00000520884.1_Missense_Mutation_p.A527T	p.A527T	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	12	1996	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	527					Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.1579G>A	CCDS35000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.85|10.85	1.466879|1.466879	0.26335|0.26335	.|.	.|.	ENSG00000137055|ENSG00000137055	ENST00000397292;ENST00000520884|ENST00000517642;ENST00000487173	T;T|.	0.57436|.	0.4;0.56|.	5.51|5.51	-2.26|-2.26	0.06867|0.06867	.|.	0.545481|.	0.20628|.	N|.	0.088641|.	T|T	0.15478|0.15478	0.0373|0.0373	N|N	0.04746|0.04746	-0.17|-0.17	0.32088|0.32088	N|N	0.592222|0.592222	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.0|.	T|T	0.33445|0.33445	-0.9868|-0.9868	10|5	0.11794|.	T|.	0.64|.	-0.4849|-0.4849	2.2952|2.2952	0.04148|0.04148	0.1029:0.3633:0.1983:0.3355|0.1029:0.3633:0.1983:0.3355	.|.	527;527|.	E5RIM3;Q9Y263|.	.;PLAP_HUMAN|.	T|Y	527|199;53	ENSP00000380460:A527T;ENSP00000429372:A527T|.	ENSP00000380460:A527T|.	A|C	-|-	1|2	0|0	PLAA|PLAA	26900414|26900414	0.469000|0.469000	0.25846|0.25846	0.997000|0.997000	0.53966|0.53966	0.923000|0.923000	0.55619|0.55619	-0.430000|-0.430000	0.06973|0.06973	-0.027000|-0.027000	0.13873|0.13873	-0.145000|-0.145000	0.13849|0.13849	GCA|TGC		0.303	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		10	134	0	0	0	1	0	10	134				
TEX15	56154	broad.mit.edu	37	8	30704565	30704565	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr8:30704565C>G	ENST00000256246.2	-	1	2043	c.1969G>C	c.(1969-1971)Gaa>Caa	p.E657Q	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	657					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGAAATGATTCTTGTGATTTA	0.284																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(1969-1971)Gaa>Caa		testis expressed 15							41.0	42.0	42.0					8																	30704565		2203	4294	6497	SO:0001583	missense	56154							g.chr8:30704565C>G	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1969G>C	8.37:g.30704565C>G	ENSP00000256246:p.Glu657Gln						p.E657Q	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	2043	-			657						Missense_Mutation	SNP	ENST00000256246.2	37	c.1969G>C	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799367	0.31869	.	.	ENSG00000133863	ENST00000256246	T	0.13196	2.61	5.48	3.39	0.38822	.	0.452685	0.20612	N	0.088949	T	0.10937	0.0267	N	0.19112	0.55	0.09310	N	1	P	0.40476	0.718	P	0.44359	0.447	T	0.11179	-1.0598	10	0.87932	D	0	.	6.7644	0.23558	0.0:0.7479:0.0:0.2521	.	657	Q9BXT5	TEX15_HUMAN	Q	657	ENSP00000256246:E657Q	ENSP00000256246:E657Q	E	-	1	0	TEX15	30824107	0.004000	0.15560	0.005000	0.12908	0.060000	0.15804	0.046000	0.14035	0.570000	0.29347	0.655000	0.94253	GAA		0.284	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			4	65	0	0	0	1	0	4	65				
HIST2H2AC	8338	broad.mit.edu	37	1	149858590	149858590	+	Silent	SNP	T	T	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:149858590T>A	ENST00000331380.2	+	1	66	c.66T>A	c.(64-66)gcT>gcA	p.A22A	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	22						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGTCCCGCGCTGGCCTCCAGT	0.657																																						ENST00000331380.2																			0				NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20						c.(64-66)gcT>gcA		histone cluster 2, H2ac							70.0	77.0	75.0					1																	149858590		2203	4299	6502	SO:0001819	synonymous_variant	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858590T>A	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.66T>A	1.37:g.149858590T>A							p.A22A	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	66	+	Breast(34;0.0124)|all_hematologic(923;0.127)		22					Q6DRA7|Q8IUE5	Silent	SNP	ENST00000331380.2	37	c.66T>A	CCDS937.1																																																																																				0.657	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		41	137	0	0	0	1	0	41	137				
BTN1A1	696	broad.mit.edu	37	6	26508294	26508294	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:26508294A>G	ENST00000244513.6	+	6	952	c.886A>G	c.(886-888)Aaa>Gaa	p.K296E		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	296	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TGCAGAATGGAAAAAGGCTAC	0.403																																						ENST00000244513.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						c.(886-888)Aaa>Gaa		butyrophilin, subfamily 1, member A1							170.0	169.0	169.0					6																	26508294		2203	4300	6503	SO:0001583	missense	696					extracellular region|integral to plasma membrane	receptor activity	g.chr6:26508294A>G	U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.886A>G	6.37:g.26508294A>G	ENSP00000244513:p.Lys296Glu						p.K296E	NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN			6	952	+			296			B30.2/SPRY.		Q4VAN3|Q4VAN4|Q9H458	Missense_Mutation	SNP	ENST00000244513.6	37	c.886A>G	CCDS4614.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.223381	0.58668	.	.	ENSG00000124557	ENST00000244513;ENST00000377586	T	0.59502	0.26	5.68	5.68	0.88126	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.106321	0.42420	D	0.000720	T	0.31979	0.0814	L	0.31065	0.9	0.37965	D	0.933099	B	0.17038	0.02	B	0.12837	0.008	T	0.33675	-0.9859	10	0.72032	D	0.01	.	12.5848	0.56410	1.0:0.0:0.0:0.0	.	296	Q13410	BT1A1_HUMAN	E	296	ENSP00000244513:K296E	ENSP00000244513:K296E	K	+	1	0	BTN1A1	26616273	1.000000	0.71417	0.998000	0.56505	0.846000	0.48090	5.352000	0.66028	2.284000	0.76573	0.533000	0.62120	AAA		0.403	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043776.1	NM_001732		16	157	0	0	0	1	0	16	157				
ZFC3H1	196441	broad.mit.edu	37	12	72038709	72038709	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:72038709T>G	ENST00000378743.3	-	4	1585	c.1227A>C	c.(1225-1227)caA>caC	p.Q409H		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	409					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTTAACTTTTTGCTGTACAG	0.323																																						ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1225-1227)caA>caC		zinc finger, C3H1-type containing							201.0	185.0	190.0					12																	72038709		1826	4093	5919	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72038709T>G	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.1227A>C	12.37:g.72038709T>G	ENSP00000368017:p.Gln409His						p.Q409H	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			4	1585	-			409					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.1227A>C	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.744623	0.69418	.	.	ENSG00000133858	ENST00000378743	T	0.35421	1.31	5.58	1.99	0.26369	.	0.249082	0.33290	N	0.005072	T	0.42765	0.1217	L	0.27053	0.805	0.80722	D	1	D	0.61697	0.99	D	0.72982	0.979	T	0.22836	-1.0205	10	0.66056	D	0.02	.	10.5937	0.45325	0.0:0.2139:0.0:0.7861	.	409	O60293	ZC3H1_HUMAN	H	409	ENSP00000368017:Q409H	ENSP00000368017:Q409H	Q	-	3	2	ZFC3H1	70324976	0.920000	0.31207	1.000000	0.80357	0.990000	0.78478	-0.235000	0.09016	0.101000	0.17610	0.528000	0.53228	CAA		0.323	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		44	70	0	0	0	1	0	44	70				
EGFR	1956	broad.mit.edu	37	7	55260487	55260487	+	Nonsense_Mutation	SNP	C	C	G	rs397517137		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:55260487C>G	ENST00000275493.2	+	22	2831	c.2654C>G	c.(2653-2655)tCa>tGa	p.S885*	EGFR_ENST00000454757.2_Nonsense_Mutation_p.S832*|EGFR_ENST00000455089.1_Nonsense_Mutation_p.S840*|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	885	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GCATTGGAATCAATTTTACAC	0.438		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2653-2655)tCa>tGa		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						127.0	114.0	118.0					7																	55260487		2203	4300	6503	SO:0001587	stop_gained	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55260487C>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2654C>G	7.37:g.55260487C>G	ENSP00000275493:p.Ser885*	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000455089.1_Nonsense_Mutation_p.S840*|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.S832*	p.S885*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		22	2831	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		885			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Nonsense_Mutation	SNP	ENST00000275493.2	37	c.2654C>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	41	9.007704	0.99035	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	.	.	.	5.7	5.7	0.88788	.	0.122702	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.3896	0.90478	0.0:1.0:0.0:0.0	.	.	.	.	X	840;755;885;832	.	ENSP00000275493:S885X	S	+	2	0	EGFR	55227981	1.000000	0.71417	0.999000	0.59377	0.160000	0.22226	7.699000	0.84547	2.680000	0.91292	0.561000	0.74099	TCA		0.438	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		9	76	0	0	0	1	0	9	76				
REV3L	5980	broad.mit.edu	37	6	111689164	111689164	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:111689164C>T	ENST00000358835.3	-	15	6281	c.5827G>A	c.(5827-5829)Gac>Aac	p.D1943N	REV3L_ENST00000435970.1_Missense_Mutation_p.D1865N|REV3L_ENST00000368802.3_Missense_Mutation_p.D1943N|REV3L_ENST00000368805.1_Missense_Mutation_p.D1943N			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1943					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAGGAAAAGTCTCCCTCAAAC	0.458								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(5593-5595)Gac>Aac	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							61.0	57.0	58.0					6																	111689164		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111689164C>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.5827G>A	6.37:g.111689164C>T	ENSP00000351697:p.Asp1943Asn					REV3L_ENST00000368805.1_Missense_Mutation_p.D1943N|REV3L_ENST00000358835.3_Missense_Mutation_p.D1943N|REV3L_ENST00000368802.3_Missense_Mutation_p.D1943N	p.D1865N			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	16	6409	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	1943			Mediates interaction with MAD2L2.		O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.5593G>A	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	33	5.240879	0.95272	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.65	5.65	0.86999	Ribonuclease H-like (1);	0.119454	0.56097	D	0.000032	T	0.59487	0.2197	L	0.54323	1.7	0.51012	D	0.9999	D	0.65815	0.995	P	0.59703	0.862	T	0.52646	-0.8548	10	0.37606	T	0.19	-5.3184	20.0965	0.97849	0.0:1.0:0.0:0.0	.	1943	O60673	DPOLZ_HUMAN	N	1943;1943;1943;1865;16	ENSP00000357792:D1943N;ENSP00000357795:D1943N;ENSP00000351697:D1943N;ENSP00000402003:D1865N	ENSP00000351697:D1943N	D	-	1	0	REV3L	111795857	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.205000	0.77881	2.824000	0.97209	0.655000	0.94253	GAC		0.458	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		15	75	0	0	0	1	0	15	75				
CMC4	100272147	broad.mit.edu	37	X	154290185	154290185	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:154290185G>T	ENST00000369484.3	-	3	818	c.140C>A	c.(139-141)tCt>tAt	p.S47Y	CMC4_ENST00000369479.1_Missense_Mutation_p.S47Y	NM_001018024.2	NP_001018024.1	P56277	CMC4_HUMAN	C-x(9)-C motif containing 4	47					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)											ACAGACGACAGATCTTCCCTT	0.443																																						ENST00000369484.3																			0											c.(139-141)tCt>tAt		C-x(9)-C motif containing 4							172.0	145.0	154.0					X																	154290185		2203	4300	6503	SO:0001583	missense	100272147							g.chrX:154290185G>T		CCDS14764.1	Xq28	2013-10-18	2013-10-18	2012-10-15	ENSG00000182712	ENSG00000182712			35428	protein-coding gene	gene with protein product	"""mature T-cell proliferation 1, isoform p8"""		"""mature T-cell proliferation 1 neighbor"", ""C-x(9)-C motif containing 4 homolog (S. cerevisiae)"""	MTCP1, MTCP1NB		8361760, 9405159, 20922212	Standard	NM_001018024		Approved	P8MTCP1, p8	uc004fmy.3	P56277	OTTHUMG00000158504	ENST00000369484.3:c.140C>A	X.37:g.154290185G>T	ENSP00000358496:p.Ser47Tyr					CMC4_ENST00000369479.1_Missense_Mutation_p.S47Y	p.S47Y	NM_001018024.2	NP_001018024.1					3	818	-								Q5HYP9	Missense_Mutation	SNP	ENST00000369484.3	37	c.140C>A	CCDS14764.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240687	0.79912	.	.	ENSG00000182712	ENST00000369484;ENST00000369479	.	.	.	5.51	5.51	0.81932	.	0.000000	0.39475	U	0.001353	T	0.79118	0.4392	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.81767	-0.0782	8	0.87932	D	0	-12.1038	15.3116	0.74039	0.0:0.0:1.0:0.0	.	47	P56277	MTCNB_HUMAN	Y	47	.	ENSP00000358491:S47Y	S	-	2	0	MTCP1NB	153943379	1.000000	0.71417	0.954000	0.39281	0.969000	0.65631	6.856000	0.75450	2.456000	0.83038	0.600000	0.82982	TCT		0.443	CMC4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000037822.2	NM_001018024.2		23	145	1	0	5.35356e-11	1	5.7182e-11	23	145				
SACS	26278	broad.mit.edu	37	13	23911462	23911462	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr13:23911462T>C	ENST00000382292.3	-	9	6826	c.6553A>G	c.(6553-6555)Agt>Ggt	p.S2185G	SACS_ENST00000382298.3_Missense_Mutation_p.S2185G|SACS_ENST00000402364.1_Missense_Mutation_p.S1435G			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2185					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGATACTACTTCTTAGGCAT	0.358																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(6553-6555)Agt>Ggt		spastic ataxia of Charlevoix-Saguenay (sacsin)							64.0	59.0	61.0					13																	23911462		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23911462T>C	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6553A>G	13.37:g.23911462T>C	ENSP00000371729:p.Ser2185Gly					SACS_ENST00000382292.3_Missense_Mutation_p.S2185G|SACS_ENST00000402364.1_Missense_Mutation_p.S1435G	p.S2185G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	7141	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2185					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.6553A>G	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	15.05	2.716779	0.48622	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87650	-2.13;-2.28;-2.13	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.88328	0.6407	L	0.51422	1.61	0.50313	D	0.999866	D	0.59357	0.985	P	0.50314	0.637	D	0.89206	0.3561	10	0.62326	D	0.03	.	16.3709	0.83357	0.0:0.0:0.0:1.0	.	2185	Q9NZJ4	SACS_HUMAN	G	2185;1435;2185	ENSP00000371729:S2185G;ENSP00000385844:S1435G;ENSP00000371735:S2185G	ENSP00000371729:S2185G	S	-	1	0	SACS	22809462	1.000000	0.71417	0.845000	0.33349	0.488000	0.33401	5.939000	0.70179	2.261000	0.74972	0.528000	0.53228	AGT		0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		12	108	0	0	0	1	0	12	108				
SMG6	23293	broad.mit.edu	37	17	2203590	2203590	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:2203590G>A	ENST00000263073.6	-	2	507	c.457C>T	c.(457-459)Cag>Tag	p.Q153*	SMG6_ENST00000544865.1_Nonsense_Mutation_p.Q122*	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	153	EJC-binding motif 2; mediates interaction with the EJC.|Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTAACAGTCTGCAAACGTCGT	0.468																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(364-366)Cag>Tag		SMG6 nonsense mediated mRNA decay factor							140.0	153.0	149.0					17																	2203590		2203	4300	6503	SO:0001587	stop_gained	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2203590G>A	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.457C>T	17.37:g.2203590G>A	ENSP00000263073:p.Gln153*					SMG6_ENST00000263073.5_Nonsense_Mutation_p.Q153*	p.Q122*			Q86US8	EST1A_HUMAN			2	874	-			153			Interaction with telomeric DNA.		B7Z874|O94837|Q86VH6|Q9UF60	Nonsense_Mutation	SNP	ENST00000263073.6	37	c.364C>T	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	G	40	8.262904	0.98732	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	.	.	.	5.48	5.48	0.80851	.	0.521315	0.21975	N	0.066396	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-7.355	19.3481	0.94373	0.0:0.0:1.0:0.0	.	.	.	.	X	153;122	.	ENSP00000263073:Q153X	Q	-	1	0	SMG6	2150340	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.041000	0.64196	2.556000	0.86216	0.655000	0.94253	CAG		0.468	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			5	237	0	0	0	1	0	5	237				
C7orf31	136895	broad.mit.edu	37	7	25191214	25191214	+	Splice_Site	SNP	C	C	G	rs140021144	byFrequency	TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:25191214C>G	ENST00000409280.1	-	7	993		c.e7+1		C7orf31_ENST00000283905.3_Splice_Site			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						AAGATACTTACATCATAATAT	0.323																																						ENST00000409280.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						c.e7+1		chromosome 7 open reading frame 31							74.0	73.0	73.0					7																	25191214		2203	4300	6503	SO:0001630	splice_region_variant	136895							g.chr7:25191214C>G	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.684+1G>C	7.37:g.25191214C>G						C7orf31_ENST00000283905.3_Splice_Site				Q8N865	CG031_HUMAN			7	993	-								A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Splice_Site	SNP	ENST00000409280.1	37		CCDS5394.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633250	0.67015	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7789	0.78243	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C7orf31	25157739	0.995000	0.38212	1.000000	0.80357	0.970000	0.65996	3.322000	0.52007	2.515000	0.84797	0.563000	0.77884	.		0.323	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811	Intron	5	43	0	0	0	1	0	5	43				
SEC23A	10484	broad.mit.edu	37	14	39530996	39530996	+	Missense_Mutation	SNP	C	C	T	rs572679988		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:39530996C>T	ENST00000307712.6	-	13	1995	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H	SEC23A_ENST00000536508.1_Missense_Mutation_p.R367H|SEC23A_ENST00000537403.1_Missense_Mutation_p.R291H|SEC23A_ENST00000545328.2_Missense_Mutation_p.R464H|SEC23A_ENST00000553925.1_5'Flank	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	493					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CACTCGGATGCGTCTCTGCCC	0.418																																						ENST00000537403.1																			0				kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(871-873)cGc>cAc		Sec23 homolog A (S. cerevisiae)							151.0	133.0	139.0					14																	39530996		2203	4300	6503	SO:0001583	missense	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39530996C>T	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1478G>A	14.37:g.39530996C>T	ENSP00000306881:p.Arg493His					SEC23A_ENST00000545328.2_Missense_Mutation_p.R464H|SEC23A_ENST00000307712.6_Missense_Mutation_p.R493H|SEC23A_ENST00000536508.1_Missense_Mutation_p.R367H	p.R291H			Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	9	2074	-	Hepatocellular(127;0.213)		493					B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	ENST00000307712.6	37	c.872G>A	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146471	0.94603	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328;ENST00000554645	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	5.4	5.4	0.78164	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	D	0.84933	0.5582	M	0.81682	2.555	0.80722	D	1	D;D;P;D	0.65815	0.995;0.976;0.785;0.981	P;B;B;P	0.46917	0.481;0.301;0.301;0.531	D	0.85652	0.1283	10	0.41790	T	0.15	-8.0367	19.5304	0.95226	0.0:1.0:0.0:0.0	.	381;464;367;493	G3V531;F5H365;F5H6C4;Q15436	.;.;.;SC23A_HUMAN	H	291;493;367;464;381	ENSP00000444193:R291H;ENSP00000306881:R493H;ENSP00000437715:R367H;ENSP00000445393:R464H	ENSP00000306881:R493H	R	-	2	0	SEC23A	38600747	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.685000	0.84117	2.675000	0.91044	0.655000	0.94253	CGC		0.418	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			16	84	0	0	0	1	0	16	84				
CSGALNACT1	55790	broad.mit.edu	37	8	19277939	19277939	+	Silent	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr8:19277939C>T	ENST00000454498.2	-	7	2057	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K	CSGALNACT1_ENST00000311540.4_Silent_p.K348K|CSGALNACT1_ENST00000522854.1_Silent_p.K348K|CSGALNACT1_ENST00000544602.1_Silent_p.K348K|CSGALNACT1_ENST00000332246.6_Silent_p.K348K|CSGALNACT1_ENST00000518542.1_5'UTR	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	348					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CGTTGCTTCCCTTCCAGAAGC	0.468																																						ENST00000454498.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1042-1044)aaG>aaA		chondroitin sulfate N-acetylgalactosaminyltransferase 1							157.0	145.0	149.0					8																	19277939		2203	4300	6503	SO:0001819	synonymous_variant	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19277939C>T	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.1044G>A	8.37:g.19277939C>T						CSGALNACT1_ENST00000311540.4_Silent_p.K348K|CSGALNACT1_ENST00000544602.1_Silent_p.K348K|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000332246.6_Silent_p.K348K|CSGALNACT1_ENST00000522854.1_Silent_p.K348K	p.K348K	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	7	2057	-			348					B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	c.1044G>A	CCDS6010.1																																																																																				0.468	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		28	93	0	0	0	1	0	28	93				
AKAP6	9472	broad.mit.edu	37	14	33292114	33292114	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:33292114C>G	ENST00000280979.4	+	13	5265	c.5095C>G	c.(5095-5097)Ctt>Gtt	p.L1699V	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1699	Ser-rich.				action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CGAGCTCTCTCTTTGCTCAGA	0.463																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(5095-5097)Ctt>Gtt		A kinase (PRKA) anchor protein 6							108.0	100.0	103.0					14																	33292114		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292114C>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5095C>G	14.37:g.33292114C>G	ENSP00000280979:p.Leu1699Val					AKAP6_ENST00000557272.1_Intron	p.L1699V	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	5265	+	Breast(36;0.0388)|Prostate(35;0.15)		1699			Ser-rich.		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5095C>G	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163760	0.38217	.	.	ENSG00000151320	ENST00000280979	T	0.08896	3.04	5.98	5.98	0.97165	.	0.065352	0.64402	D	0.000014	T	0.17959	0.0431	L	0.56769	1.78	0.80722	D	1	P	0.47604	0.898	P	0.54238	0.746	T	0.00062	-1.2156	10	0.45353	T	0.12	-10.254	10.7507	0.46207	0.0:0.8595:0.0:0.1405	.	1699	Q13023	AKAP6_HUMAN	V	1699	ENSP00000280979:L1699V	ENSP00000280979:L1699V	L	+	1	0	AKAP6	32361865	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.499000	0.35671	2.843000	0.97960	0.650000	0.86243	CTT		0.463	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		17	121	0	0	0	1	0	17	121				
LDOC1L	84247	broad.mit.edu	37	22	44893383	44893383	+	Silent	SNP	C	C	T	rs200898015	byFrequency	TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr22:44893383C>T	ENST00000341255.3	-	2	563	c.54G>A	c.(52-54)ccG>ccA	p.P18P		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	18										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		TCTGGGCATTCGGAGACGCTG	0.642													C|||	2	0.000399361	0.0	0.0	5008	,	,		17183	0.002		0.0	False		,,,				2504	0.0					ENST00000341255.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11						c.(52-54)ccG>ccA		leucine zipper, down-regulated in cancer 1-like							53.0	40.0	44.0					22																	44893383		2203	4300	6503	SO:0001819	synonymous_variant	84247							g.chr22:44893383C>T	CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.54G>A	22.37:g.44893383C>T							p.P18P	NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN		LUAD - Lung adenocarcinoma(64;0.0161)	2	563	-		Ovarian(80;0.024)|all_neural(38;0.0416)	18					Q6ZTR1	Silent	SNP	ENST00000341255.3	37	c.54G>A	CCDS33662.1																																																																																				0.642	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1	NM_032287		7	53	0	0	0	1	0	7	53				
AMPD1	270	broad.mit.edu	37	1	115219972	115219972	+	Splice_Site	SNP	T	T	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:115219972T>C	ENST00000520113.2	-	10	1502	c.1487A>G	c.(1486-1488)tAt>tGt	p.Y496C	AMPD1_ENST00000369538.3_Splice_Site_p.Y492C|AMPD1_ENST00000353928.6_Splice_Site_p.Y463C			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	496					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AGGTACATACTAGATCCTGGG	0.507																																						ENST00000369538.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.e9+1		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						121.0	107.0	112.0					1																	115219972		2203	4300	6503	SO:0001630	splice_region_variant	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115219972T>C	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1487+1A>G	1.37:g.115219972T>C						AMPD1_ENST00000353928.6_Splice_Site_p.Y463_splice|AMPD1_ENST00000520113.2_Splice_Site_p.Y496_splice	p.Y492_splice	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1522	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	463					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Splice_Site	SNP	ENST00000520113.2	37	c.1475_splice	CCDS876.2	.	.	.	.	.	.	.	.	.	.	T	24.4	4.527716	0.85706	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.96334	-3.98;-3.98;-3.98	5.74	5.74	0.90152	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.98598	0.9531	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99797	1.1034	9	.	.	.	-17.5206	16.0264	0.80548	0.0:0.0:0.0:1.0	.	492;463	Q5TF02;P23109	.;AMPD1_HUMAN	C	496;492;463	ENSP00000430075:Y496C;ENSP00000358551:Y492C;ENSP00000316520:Y463C	.	Y	-	2	0	AMPD1	115021495	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.994000	0.88315	2.185000	0.69588	0.459000	0.35465	TAT		0.507	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4		Missense_Mutation	17	58	0	0	0	1	0	17	58				
AKT1	207	broad.mit.edu	37	14	105238729	105238729	+	Silent	SNP	G	G	A	rs375901448		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:105238729G>A	ENST00000554581.1	-	11	2713	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	AKT1_ENST00000554848.1_Silent_p.I411I|AKT1_ENST00000402615.2_Silent_p.I411I|AKT1_ENST00000349310.3_Silent_p.I411I|AKT1_ENST00000555528.1_Silent_p.I411I|AKT1_ENST00000555458.1_Silent_p.I106I|AKT1_ENST00000554192.1_Silent_p.I98I|AKT1_ENST00000407796.2_Silent_p.I411I|AKT1_ENST00000544168.1_Silent_p.I349I|RP11-982M15.2_ENST00000557223.1_RNA|AKT1_ENST00000554585.1_5'UTR			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	411	AGC-kinase C-terminal.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	GCTGCCACACGATACCGGCAA	0.617		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	ENST00000554581.1		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"""breast, colorectal, ovarian, NSCLC"""		0				NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(1231-1233)atC>atT		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)		,,	0,4406		0,0,2203	141.0	99.0	113.0		1233,1233,1233	0.3	1.0	14		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	AKT1	NM_001014431.1,NM_001014432.1,NM_005163.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	411/481,411/481,411/481	105238729	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105238729G>A	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.1233C>T	14.37:g.105238729G>A						AKT1_ENST00000407796.2_Silent_p.I411I|AKT1_ENST00000554192.1_Silent_p.I98I|AKT1_ENST00000402615.2_Silent_p.I411I|AKT1_ENST00000349310.3_Silent_p.I411I|AKT1_ENST00000544168.1_Silent_p.I349I|AKT1_ENST00000555458.1_Silent_p.I106I|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000555528.1_Silent_p.I411I|AKT1_ENST00000554848.1_Silent_p.I411I	p.I411I			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	11	2713	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	411			AGC-kinase C-terminal.		B2RAM5|B7Z5R1|Q9BWB6	Silent	SNP	ENST00000554581.1	37	c.1233C>T	CCDS9994.1																																																																																				0.617	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		21	139	0	0	0	1	0	21	139				
NUDC	10726	broad.mit.edu	37	1	27269257	27269257	+	Missense_Mutation	SNP	C	C	T	rs146502618		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:27269257C>T	ENST00000321265.5	+	5	659	c.536C>T	c.(535-537)tCg>tTg	p.S179L		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	179	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		CAGACCCTGTCGGAGCTGGAC	0.577																																						ENST00000321265.5																			0				cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8						c.(535-537)tCg>tTg		nudC nuclear distribution protein		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	66.0	63.0	64.0		536	4.3	1.0	1	dbSNP_134	64	0,8600		0,0,4300	no	missense	NUDC	NM_006600.2	145	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	179/332	27269257	1,13005	2203	4300	6503	SO:0001583	missense	10726				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding	g.chr1:27269257C>T		CCDS292.1	1p35-p34	2013-08-06	2013-08-06		ENSG00000090273	ENSG00000090273			8045	protein-coding gene	gene with protein product		610325	"""nuclear distribution gene C homolog (A. nidulans)"", ""nuclear distribution C homolog (A. nidulans)"""				Standard	NM_006600		Approved	NudC	uc001bng.2	Q9Y266	OTTHUMG00000004226	ENST00000321265.5:c.536C>T	1.37:g.27269257C>T	ENSP00000319664:p.Ser179Leu						p.S179L	NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)	5	659	+			179			CS.		Q5QP31|Q5QP35|Q9H0N2|Q9Y2B6	Missense_Mutation	SNP	ENST00000321265.5	37	c.536C>T	CCDS292.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047800	0.93740	2.27E-4	0.0	ENSG00000090273	ENST00000435827;ENST00000321265;ENST00000452707	T;T;T	0.78246	0.85;-1.16;0.85	5.19	4.26	0.50523	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.115183	0.64402	D	0.000011	T	0.81795	0.4898	M	0.80616	2.505	0.54753	D	0.999989	P;D	0.57899	0.826;0.981	B;P	0.48704	0.362;0.587	D	0.83492	0.0070	10	0.46703	T	0.11	-3.5092	14.19	0.65633	0.0:0.927:0.0:0.073	.	130;179	Q9H2R7;Q9Y266	.;NUDC_HUMAN	L	183;179;130	ENSP00000404020:S183L;ENSP00000319664:S179L;ENSP00000400981:S130L	ENSP00000319664:S179L	S	+	2	0	NUDC	27141844	1.000000	0.71417	0.996000	0.52242	0.959000	0.62525	4.628000	0.61282	2.717000	0.92951	0.650000	0.86243	TCG		0.577	NUDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012172.2			4	66	0	0	0	1	0	4	66				
KIAA1804	84451	broad.mit.edu	37	1	233482347	233482347	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:233482347C>G	ENST00000366624.3	+	2	1226	c.965C>G	c.(964-966)tCt>tGt	p.S322C	MLK4_ENST00000366623.3_Missense_Mutation_p.S322C	NM_032435.2	NP_115811.2																					TCCTTGTTTTCTAAGGGAAGC	0.478																																						ENST00000366624.3																			0											c.(964-966)tCt>tGt									77.0	72.0	74.0					1																	233482347		2203	4300	6503	SO:0001583	missense	84451							g.chr1:233482347C>G																												ENST00000366624.3:c.965C>G	1.37:g.233482347C>G	ENSP00000355583:p.Ser322Cys					MLK4_ENST00000366623.3_Missense_Mutation_p.S322C	p.S322C	NM_032435.2	NP_115811.2					2	1226	+									Missense_Mutation	SNP	ENST00000366624.3	37	c.965C>G	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534337	0.85812	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	D;D	0.90676	-2.71;-2.71	4.49	4.49	0.54785	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.070762	0.64402	D	0.000017	D	0.95354	0.8492	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.96067	0.9043	10	0.87932	D	0	.	17.3739	0.87386	0.0:1.0:0.0:0.0	.	322;322	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	C	322	ENSP00000355582:S322C;ENSP00000355583:S322C	ENSP00000355582:S322C	S	+	2	0	RP5-862P8.2	231548970	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.645000	0.83430	2.319000	0.78375	0.563000	0.77884	TCT		0.478	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			6	56	0	0	0	1	0	6	56				
NUDT18	79873	broad.mit.edu	37	8	21965084	21965084	+	Silent	SNP	G	G	A	rs374856001		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr8:21965084G>A	ENST00000309188.6	-	5	817	c.699C>T	c.(697-699)gcC>gcT	p.A233A	NUDT18_ENST00000521807.2_3'UTR|NUDT18_ENST00000522405.1_Silent_p.A156A	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	233					dADP catabolic process (GO:0046057)|dGDP catabolic process (GO:0046067)|GDP catabolic process (GO:0046712)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-hydroxy-dADP phosphatase activity (GO:0044717)|8-oxo-dGDP phosphatase activity (GO:0044715)|8-oxo-GDP phosphatase activity (GO:0044716)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		GCCGCAGGACGGCCATCTTCA	0.607																																						ENST00000309188.6																			0				breast(1)|central_nervous_system(1)|lung(2)	4						c.(697-699)gcC>gcT		nudix (nucleoside diphosphate linked moiety X)-type motif 18		G		0,4250		0,0,2125	59.0	65.0	63.0		701	-5.9	0.4	8		63	1,8487		0,1,4243	no	coding-synonymous	NUDT18	NM_024815.3		0,1,6368	AA,AG,GG		0.0118,0.0,0.0079		233/324	21965084	1,12737	2125	4244	6369	SO:0001819	synonymous_variant	79873						hydrolase activity|metal ion binding|protein binding	g.chr8:21965084G>A		CCDS75706.1	8p21.3	2012-07-31				ENSG00000275074		"""Nudix motif containing"""	26194	protein-coding gene	gene with protein product	"""mutT human homolog 3"""	615791				22556419	Standard	NM_024815		Approved	FLJ22494, MTH3	uc003xaq.1	Q6ZVK8		ENST00000309188.6:c.699C>T	8.37:g.21965084G>A						NUDT18_ENST00000522405.1_Silent_p.A156A|NUDT18_ENST00000521807.2_3'UTR	p.A233A	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN		Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)	5	817	-			233					Q8IZ75|Q9H687	Silent	SNP	ENST00000309188.6	37	c.699C>T		.	.	.	.	.	.	.	.	.	.	G	7.355	0.623654	0.14193	0.0	1.18E-4	ENSG00000173566	ENST00000522379	.	.	.	5.38	-5.89	0.02282	.	.	.	.	.	T	0.54334	0.1852	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59369	-0.7467	4	.	.	.	-4.0E-4	12.0143	0.53305	0.7263:0.0:0.2737:0.0	.	.	.	.	C	269	.	.	R	-	1	0	NUDT18	22021029	0.000000	0.05858	0.375000	0.26029	0.813000	0.45954	-2.947000	0.00680	-0.645000	0.05458	-0.436000	0.05848	CGT		0.607	NUDT18-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_024815		36	49	0	0	0	1	0	36	49				
MYBPC3	4607	broad.mit.edu	37	11	47372995	47372995	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:47372995G>A	ENST00000545968.1	-	2	141	c.87C>T	c.(85-87)ttC>ttT	p.F29F	MYBPC3_ENST00000256993.4_Silent_p.F29F|MYBPC3_ENST00000399249.2_Silent_p.F29F	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	29					cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TCTCGGCCTCGAACACGGCAG	0.652																																						ENST00000399249.2																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(85-87)ttC>ttT		myosin binding protein C, cardiac							21.0	24.0	23.0					11																	47372995		2143	4260	6403	SO:0001819	synonymous_variant	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47372995G>A	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.87C>T	11.37:g.47372995G>A						MYBPC3_ENST00000545968.1_Silent_p.F29F|MYBPC3_ENST00000256993.4_Silent_p.F29F	p.F29F			Q14896	MYPC3_HUMAN		Lung(87;0.176)	2	141	-			29					A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Silent	SNP	ENST00000545968.1	37	c.87C>T	CCDS53621.1																																																																																				0.652	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			4	18	0	0	0	1	0	4	18				
OR10V1	390201	broad.mit.edu	37	11	59481275	59481275	+	Missense_Mutation	SNP	C	C	T	rs200769474		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:59481275C>T	ENST00000307552.2	-	1	62	c.44G>A	c.(43-45)cGt>cAt	p.R15H	STX3_ENST00000300150.7_Intron	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						TGAGAATGGACGAAAGAAAAA	0.438																																						ENST00000307552.2																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						c.(43-45)cGt>cAt		olfactory receptor, family 10, subfamily V, member 1							65.0	57.0	60.0					11																	59481275		2201	4295	6496	SO:0001583	missense	390201				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59481275C>T	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"""GPCR / Class A : Olfactory receptors"""	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.44G>A	11.37:g.59481275C>T	ENSP00000302199:p.Arg15His					STX3_ENST00000300150.7_Intron	p.R15H	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN			1	62	-			15					Q6IFD9|Q96R50	Missense_Mutation	SNP	ENST00000307552.2	37	c.44G>A	CCDS31565.1	.	.	.	.	.	.	.	.	.	.	C	2.644	-0.283545	0.05642	.	.	ENSG00000172289	ENST00000307552	T	0.00576	6.45	4.21	1.16	0.20824	.	0.362457	0.23807	N	0.044376	T	0.00440	0.0014	N	0.20574	0.59	0.22330	N	0.999196	B	0.14805	0.011	B	0.09377	0.004	T	0.48198	-0.9056	10	0.56958	D	0.05	.	6.4842	0.22079	0.0:0.6772:0.0:0.3228	.	15	Q8NGI7	O10V1_HUMAN	H	15	ENSP00000302199:R15H	ENSP00000302199:R15H	R	-	2	0	OR10V1	59237851	0.000000	0.05858	0.550000	0.28217	0.696000	0.40369	-0.243000	0.08915	0.155000	0.19261	0.543000	0.68304	CGT		0.438	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324		35	30	0	0	0	1	0	35	30				
SMC1B	27127	broad.mit.edu	37	22	45765859	45765859	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr22:45765859G>A	ENST00000357450.4	-	15	2394	c.2395C>T	c.(2395-2397)Cgg>Tgg	p.R799W	SMC1B_ENST00000404354.3_Missense_Mutation_p.R799W	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	799					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTTGTTGCCGTTTAACATGT	0.264																																						ENST00000357450.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(2395-2397)Cgg>Tgg		structural maintenance of chromosomes 1B							50.0	52.0	51.0					22																	45765859		1799	4055	5854	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45765859G>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2395C>T	22.37:g.45765859G>A	ENSP00000350036:p.Arg799Trp					SMC1B_ENST00000404354.3_Missense_Mutation_p.R799W	p.R799W	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	15	2394	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	799					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.2395C>T	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782572	0.70222	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.80123	-1.34;-1.18	5.79	4.72	0.59763	RecF/RecN/SMC (1);	0.398530	0.20983	N	0.082176	T	0.79992	0.4542	L	0.39898	1.24	0.25683	N	0.985778	P;D;D	0.60160	0.883;0.987;0.972	P;P;P	0.51453	0.67;0.54;0.54	T	0.73313	-0.4022	10	0.48119	T	0.1	.	14.5095	0.67774	0.0:0.0:0.7715:0.2285	.	799;799;799	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	W	799	ENSP00000350036:R799W;ENSP00000385902:R799W	ENSP00000350036:R799W	R	-	1	2	SMC1B	44144523	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.019000	0.49635	2.732000	0.93576	0.585000	0.79938	CGG		0.264	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		7	158	0	0	0	1	0	7	158				
BIRC6	57448	broad.mit.edu	37	2	32692772	32692772	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:32692772G>A	ENST00000421745.2	+	27	5670	c.5536G>A	c.(5536-5538)Gac>Aac	p.D1846N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1846					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AATTCTTCATGACTTAATACC	0.383																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(5536-5538)Gac>Aac		baculoviral IAP repeat containing 6							95.0	86.0	89.0					2																	32692772		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32692772G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.5536G>A	2.37:g.32692772G>A	ENSP00000393596:p.Asp1846Asn						p.D1846N	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			27	5670	+	Acute lymphoblastic leukemia(172;0.155)		1846					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.5536G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606847	0.87157	.	.	ENSG00000115760	ENST00000421745	D	0.86432	-2.12	5.61	5.61	0.85477	.	0.054032	0.64402	D	0.000001	D	0.88258	0.6388	M	0.75615	2.305	0.58432	D	0.999996	B	0.17667	0.023	B	0.10450	0.005	D	0.84864	0.0821	10	0.87932	D	0	.	19.7081	0.96082	0.0:0.0:1.0:0.0	.	1846	Q9NR09	BIRC6_HUMAN	N	1846	ENSP00000393596:D1846N	ENSP00000393596:D1846N	D	+	1	0	BIRC6	32546276	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.010000	0.88615	2.677000	0.91161	0.558000	0.71614	GAC		0.383	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		7	33	0	0	0	1	0	7	33				
ASTN2	23245	broad.mit.edu	37	9	119738445	119738445	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:119738445C>G	ENST00000313400.4	-	9	1799	c.1699G>C	c.(1699-1701)Gag>Cag	p.E567Q	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.E516Q|ASTN2_ENST00000373996.3_Missense_Mutation_p.E567Q			O75129	ASTN2_HUMAN	astrotactin 2	567					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TAGCCCCTCTCAAGTGTCGTG	0.498																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(1699-1701)Gag>Cag		astrotactin 2							85.0	78.0	80.0					9																	119738445		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119738445C>G	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1699G>C	9.37:g.119738445C>G	ENSP00000314038:p.Glu567Gln					ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.E567Q|ASTN2_ENST00000361209.2_Missense_Mutation_p.E516Q	p.E567Q			O75129	ASTN2_HUMAN			9	1799	-			567					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.1699G>C		.	.	.	.	.	.	.	.	.	.	C	8.799	0.932487	0.18131	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.12465	2.84;2.84;2.68;2.88	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.07638	0.0192	N	0.04880	-0.145	0.58432	D	0.99999	B;B;B	0.34200	0.234;0.441;0.137	B;B;B	0.28553	0.061;0.091;0.058	T	0.42865	-0.9426	9	.	.	.	-14.8675	19.3057	0.94161	0.0:1.0:0.0:0.0	.	516;567;567	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	Q	567;567;294;516	ENSP00000314038:E567Q;ENSP00000363108:E567Q;ENSP00000363098:E294Q;ENSP00000354504:E516Q	.	E	-	1	0	ASTN2	118778266	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	4.691000	0.61738	2.657000	0.90304	0.655000	0.94253	GAG		0.498	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		15	36	0	0	0	1	0	15	36				
AGO1	26523	broad.mit.edu	37	1	36367847	36367847	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:36367847C>T	ENST00000373204.4	+	11	1519	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	AGO1_ENST00000373206.1_Missense_Mutation_p.R361W	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	436					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										CTGGGACATGCGGGGGAAACA	0.572																																						ENST00000373204.4																			0											c.(1306-1308)Cgg>Tgg		argonaute RISC catalytic component 1							106.0	112.0	110.0					1																	36367847		2203	4300	6503	SO:0001583	missense	26523							g.chr1:36367847C>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1306C>T	1.37:g.36367847C>T	ENSP00000362300:p.Arg436Trp					AGO1_ENST00000373206.1_Missense_Mutation_p.R361W	p.R436W	NM_012199.2	NP_036331.1					11	1519	+								Q5TA57|Q6P4S0	Missense_Mutation	SNP	ENST00000373204.4	37	c.1306C>T	CCDS398.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350187	0.61183	.	.	ENSG00000092847	ENST00000373206;ENST00000373204	T;T	0.06218	3.33;3.33	5.67	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.21022	0.0506	H	0.94385	3.53	0.80722	D	1	P	0.38455	0.632	B	0.41332	0.354	T	0.10683	-1.0619	10	0.72032	D	0.01	-22.1438	14.2631	0.66097	0.2706:0.7293:0.0:0.0	.	436	Q9UL18	AGO1_HUMAN	W	361;436	ENSP00000362302:R361W;ENSP00000362300:R436W	ENSP00000362300:R436W	R	+	1	2	EIF2C1	36140434	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.521000	0.45563	1.367000	0.46095	0.655000	0.94253	CGG		0.572	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			5	234	0	0	0	1	0	5	234				
HIST1H2AL	8332	broad.mit.edu	37	6	27833210	27833210	+	Silent	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:27833210C>T	ENST00000357320.2	+	1	177	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	26						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						GTCTCCAGTTCCCCGTGGGCC	0.657																																						ENST00000357320.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						c.(76-78)ttC>ttT		histone cluster 1, H2al							64.0	73.0	70.0					6																	27833210		2203	4300	6503	SO:0001819	synonymous_variant	8332				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27833210C>T	X83549	CCDS4634.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198374	ENSG00000276903		"""Histones / Replication-dependent"""	4730	protein-coding gene	gene with protein product		602793	"""H2A histone family, member I"", ""histone 1, H2al"""	H2AFI		9439656, 9031620, 12408966	Standard	NM_003511		Approved	H2A/i, dJ193B12.9	uc003njw.3	P0C0S8	OTTHUMG00000014492	ENST00000357320.2:c.78C>T	6.37:g.27833210C>T							p.F26F	NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN			1	177	+			26					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000357320.2	37	c.78C>T	CCDS4634.1																																																																																				0.657	HIST1H2AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040160.1	NM_003511		20	126	0	0	0	1	0	20	126				
OPN1SW	611	broad.mit.edu	37	7	128415508	128415508	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:128415508G>T	ENST00000249389.2	-	1	336	c.337C>A	c.(337-339)Ctg>Atg	p.L113M		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	113					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						ACAGTGCCCAGGAAGCCCTCC	0.547																																						ENST00000249389.2																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						c.(337-339)Ctg>Atg		opsin 1 (cone pigments), short-wave-sensitive							123.0	126.0	125.0					7																	128415508		2203	4300	6503	SO:0001583	missense	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128415508G>T	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.337C>A	7.37:g.128415508G>T	ENSP00000249389:p.Leu113Met						p.L113M	NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN			1	336	-			113					Q13877	Missense_Mutation	SNP	ENST00000249389.2	37	c.337C>A	CCDS5806.1	.	.	.	.	.	.	.	.	.	.	G	0.059	-1.228977	0.01518	.	.	ENSG00000128617	ENST00000249389	T	0.45668	0.89	5.35	0.0203	0.14124	GPCR, rhodopsin-like superfamily (1);	0.638144	0.14813	N	0.296924	T	0.15003	0.0362	N	0.01576	-0.805	0.22531	N	0.999011	B	0.18166	0.026	B	0.28553	0.091	T	0.24261	-1.0165	10	0.33141	T	0.24	.	4.4944	0.11830	0.0793:0.1223:0.2494:0.5489	.	113	P03999	OPSB_HUMAN	M	113	ENSP00000249389:L113M	ENSP00000249389:L113M	L	-	1	2	OPN1SW	128202744	0.000000	0.05858	0.918000	0.36340	0.330000	0.28571	-1.119000	0.03276	-0.175000	0.10725	0.655000	0.94253	CTG		0.547	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		41	107	1	0	1.59932e-28	1	1.75722e-28	41	107				
AKT1	207	broad.mit.edu	37	14	105239675	105239675	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:105239675G>A	ENST00000554581.1	-	9	2350	c.870C>T	c.(868-870)atC>atT	p.I290I	AKT1_ENST00000554848.1_Silent_p.I290I|AKT1_ENST00000402615.2_Silent_p.I290I|AKT1_ENST00000349310.3_Silent_p.I290I|AKT1_ENST00000555528.1_Silent_p.I290I|AKT1_ENST00000555458.1_5'Flank|AKT1_ENST00000554192.1_Silent_p.I10I|AKT1_ENST00000407796.2_Silent_p.I290I|AKT1_ENST00000544168.1_Silent_p.I228I|AKT1_ENST00000554585.1_5'UTR			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CGAAGTCTGTGATCTTAATGT	0.642		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	ENST00000554581.1		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"""breast, colorectal, ovarian, NSCLC"""		0				NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(868-870)atC>atT		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						176.0	114.0	135.0					14																	105239675		2203	4300	6503	SO:0001819	synonymous_variant	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105239675G>A	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.870C>T	14.37:g.105239675G>A						AKT1_ENST00000407796.2_Silent_p.I290I|AKT1_ENST00000554192.1_Silent_p.I10I|AKT1_ENST00000402615.2_Silent_p.I290I|AKT1_ENST00000349310.3_Silent_p.I290I|AKT1_ENST00000544168.1_Silent_p.I228I|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000555528.1_Silent_p.I290I|AKT1_ENST00000554848.1_Silent_p.I290I	p.I290I			P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	9	2350	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	290			Protein kinase.		B2RAM5|B7Z5R1|Q9BWB6	Silent	SNP	ENST00000554581.1	37	c.870C>T	CCDS9994.1																																																																																				0.642	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		4	40	0	0	0	1	0	4	40				
CYB5B	80777	broad.mit.edu	37	16	69481170	69481170	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr16:69481170G>A	ENST00000512062.1	+	2	451	c.280G>A	c.(280-282)Gat>Aat	p.D94N	CYB5B_ENST00000307892.8_Missense_Mutation_p.D98N|CYB5B_ENST00000515314.1_Missense_Mutation_p.D94N|CYB5B_ENST00000561792.1_Missense_Mutation_p.D94N			O43169	CYB5B_HUMAN	cytochrome b5 type B (outer mitochondrial membrane)	94	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	heme binding (GO:0020037)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|lung(2)	8		Ovarian(137;0.101)				CTACATTGGTGATATCCATCC	0.438																																						ENST00000512062.1																			0				endometrium(3)|kidney(3)|lung(2)	8						c.(280-282)Gat>Aat		cytochrome b5 type B (outer mitochondrial membrane)							134.0	125.0	128.0					16																	69481170		1947	4130	6077	SO:0001583	missense	80777				electron transport chain|transport	integral to membrane|mitochondrial outer membrane	heme binding	g.chr16:69481170G>A		CCDS10880.2	16q22.1	2006-02-02			ENSG00000103018	ENSG00000103018			24374	protein-coding gene	gene with protein product		611964				11867265, 14733950	Standard	NM_030579		Approved	CYB5-M	uc002exg.1	O43169	OTTHUMG00000133020	ENST00000512062.1:c.280G>A	16.37:g.69481170G>A	ENSP00000423679:p.Asp94Asn					CYB5B_ENST00000307892.8_Missense_Mutation_p.D98N|CYB5B_ENST00000561792.1_Missense_Mutation_p.D94N|CYB5B_ENST00000515314.1_Missense_Mutation_p.D94N	p.D94N			O43169	CYB5B_HUMAN			2	451	+		Ovarian(137;0.101)	94			Cytochrome b5 heme-binding.		A8K6B1|Q96CC3|Q9BT35	Missense_Mutation	SNP	ENST00000512062.1	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.162107	0.94727	.	.	ENSG00000103018	ENST00000512062;ENST00000307892;ENST00000515314	T;T;T	0.80214	-1.35;-1.35;-1.35	5.44	5.44	0.79542	Cytochrome b5 (5);	0.087933	0.85682	D	0.000000	D	0.86008	0.5830	L	0.45470	1.425	0.80722	D	1	B;D;B	0.63880	0.41;0.993;0.041	B;D;B	0.63113	0.241;0.911;0.055	D	0.86771	0.1973	10	0.62326	D	0.03	-0.8211	18.0505	0.89347	0.0:0.0:1.0:0.0	.	94;94;94	D6RFH4;O43169;Q5HYD9	.;CYB5B_HUMAN;.	N	94;98;94	ENSP00000423679:D94N;ENSP00000308430:D98N;ENSP00000421492:D94N	ENSP00000308430:D98N	D	+	1	0	CYB5B	68038671	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.166000	0.94766	2.551000	0.86045	0.650000	0.86243	GAT		0.438	CYB5B-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256606.2	NM_030579		10	77	0	0	0	1	0	10	77				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	64	0	0	0	1	0	4	64				
ADAM10	102	broad.mit.edu	37	15	58925411	58925411	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr15:58925411T>A	ENST00000260408.3	-	9	1603	c.1160A>T	c.(1159-1161)cAt>cTt	p.H387L	ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.H86L	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	387	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TCCAAAGTTATGTCCAACTTC	0.323																																						ENST00000260408.3																			0				breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27						c.(1159-1161)cAt>cTt		ADAM metallopeptidase domain 10							83.0	80.0	81.0					15																	58925411		2192	4292	6484	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58925411T>A	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1160A>T	15.37:g.58925411T>A	ENSP00000260408:p.His387Leu					ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.H86L	p.H387L	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	9	1603	-			387			Peptidase M12B.		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.1160A>T	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609552	0.87258	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	D;D	0.98666	-5.06;-5.06	5.82	5.82	0.92795	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.99441	0.9802	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98366	1.0551	10	0.87932	D	0	-22.259	16.1839	0.81934	0.0:0.0:0.0:1.0	.	86;387	B4DU28;O14672	.;ADA10_HUMAN	L	387;206;86	ENSP00000260408:H387L;ENSP00000379444:H86L	ENSP00000260408:H387L	H	-	2	0	ADAM10	56712703	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.698000	0.84413	2.222000	0.72286	0.533000	0.62120	CAT		0.323	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		30	21	0	0	0	1	0	30	21				
SEL1L2	80343	broad.mit.edu	37	20	13850197	13850197	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr20:13850197C>G	ENST00000284951.5	-	14	1281	c.1207G>C	c.(1207-1209)Gaa>Caa	p.E403Q	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.E403Q			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	403						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CACCCTTTTTCCGCAGCTTTC	0.388																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1207-1209)Gaa>Caa		sel-1 suppressor of lin-12-like 2 (C. elegans)							104.0	97.0	99.0					20																	13850197		1864	4112	5976	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13850197C>G	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1207G>C	20.37:g.13850197C>G	ENSP00000284951:p.Glu403Gln					SEL1L2_ENST00000378072.5_Missense_Mutation_p.E403Q|SEL1L2_ENST00000486903.1_5'UTR	p.E403Q			Q5TEA6	SE1L2_HUMAN			14	1281	-			403					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1207G>C		.	.	.	.	.	.	.	.	.	.	C	23.3	4.404267	0.83230	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.56103	0.48;0.48	5.28	5.28	0.74379	Tetratricopeptide-like helical (1);	0.000000	0.56097	D	0.000032	T	0.66346	0.2780	L	0.42245	1.32	0.51233	D	0.999911	P;D	0.76494	0.943;0.999	P;D	0.83275	0.874;0.996	T	0.67428	-0.5673	10	0.62326	D	0.03	-14.0468	16.7744	0.85547	0.0:1.0:0.0:0.0	.	403;403	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	Q	403	ENSP00000367312:E403Q;ENSP00000284951:E403Q	ENSP00000284951:E403Q	E	-	1	0	SEL1L2	13798197	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.192000	0.65115	2.638000	0.89438	0.557000	0.71058	GAA		0.388	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		9	66	0	0	0	1	0	9	66				
FRMPD3	84443	broad.mit.edu	37	X	106843678	106843678	+	Silent	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:106843678C>T	ENST00000276185.4	+	16	2508	c.2508C>T	c.(2506-2508)ctC>ctT	p.L836L				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	836						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CCCAGCACCTCAACAAGGACA	0.592																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(2506-2508)ctC>ctT		FERM and PDZ domain containing 3							66.0	59.0	61.0					X																	106843678		876	1991	2867	SO:0001819	synonymous_variant	84443					cytoskeleton		g.chrX:106843678C>T	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.2508C>T	X.37:g.106843678C>T							p.L836L			Q5JV73	FRPD3_HUMAN			16	2508	+			836					Q96JK8	Silent	SNP	ENST00000276185.4	37	c.2508C>T																																																																																					0.592	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		9	59	0	0	0	1	0	9	59				
TUBB	203068	broad.mit.edu	37	6	30691431	30691431	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:30691431G>C	ENST00000327892.8	+	4	898	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	TUBB_ENST00000396384.1_Missense_Mutation_p.E126Q|TUBB_ENST00000396389.1_Missense_Mutation_p.E180Q|TUBB_ENST00000330914.3_Missense_Mutation_p.E126Q|TUBB_ENST00000435534.1_Intron|XXbac-BPG252P9.9_ENST00000607476.1_RNA	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	198					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	GAATACTGATGAGACCTATTG	0.522																																						ENST00000396389.1																			0				breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16						c.(538-540)Gag>Cag		tubulin, beta class I	Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)						97.0	85.0	89.0					6																	30691431		2203	4300	6503	SO:0001583	missense	203068				cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding	g.chr6:30691431G>C	AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"""Tubulins"""	20778	protein-coding gene	gene with protein product	"""class I beta-tubulin"", ""beta1-tubulin"""	191130	"""tubulin, beta polypeptide"", ""tubulin, beta"""			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.592G>C	6.37:g.30691431G>C	ENSP00000339001:p.Glu198Gln					TUBB_ENST00000327892.8_Missense_Mutation_p.E198Q|XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000396384.1_Missense_Mutation_p.E126Q|TUBB_ENST00000330914.3_Missense_Mutation_p.E126Q|TUBB_ENST00000435534.1_Intron	p.E180Q			P07437	TBB5_HUMAN			4	1131	+			198					P05218|Q8WUC1|Q9CY33	Missense_Mutation	SNP	ENST00000327892.8	37	c.538G>C	CCDS4687.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109226	0.56398	.	.	ENSG00000196230	ENST00000327892;ENST00000422827;ENST00000330914;ENST00000396389;ENST00000396384;ENST00000538863	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	4.51	4.51	0.55191	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	L	0.52905	1.665	0.80722	D	1	B;P	0.38078	0.377;0.617	P;B	0.54460	0.753;0.262	T	0.74077	-0.3781	10	0.87932	D	0	.	14.7358	0.69414	0.0:0.0:1.0:0.0	.	198;198	P07437;F8VW92	TBB5_HUMAN;.	Q	198;107;126;180;126;52	ENSP00000339001:E198Q;ENSP00000365578:E126Q;ENSP00000379672:E180Q;ENSP00000379668:E126Q	ENSP00000339001:E198Q	E	+	1	0	TUBB	30799410	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.323000	0.96364	2.330000	0.79161	0.491000	0.48974	GAG		0.522	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076074.2	NM_178014		6	113	0	0	0	1	0	6	113				
FAM193A	8603	broad.mit.edu	37	4	2701773	2701773	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr4:2701773G>A	ENST00000324666.5	+	17	3352	c.3001G>A	c.(3001-3003)Gct>Act	p.A1001T	FAM193A_ENST00000545951.1_Missense_Mutation_p.A1001T|FAM193A_ENST00000502458.1_Missense_Mutation_p.A1023T|FAM193A_ENST00000505311.1_Missense_Mutation_p.A1001T|FAM193A_ENST00000382839.3_Missense_Mutation_p.A1001T	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1001										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AGGGCTAGGGGCTGATGGGGA	0.537																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(3001-3003)Gct>Act		family with sequence similarity 193, member A							74.0	77.0	76.0					4																	2701773		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2701773G>A	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.3001G>A	4.37:g.2701773G>A	ENSP00000324587:p.Ala1001Thr					FAM193A_ENST00000545951.1_Missense_Mutation_p.A1001T|FAM193A_ENST00000505311.1_Missense_Mutation_p.A1001T|FAM193A_ENST00000502458.1_Missense_Mutation_p.A1023T|FAM193A_ENST00000382839.3_Missense_Mutation_p.A1001T	p.A1001T	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			17	3352	+			1001					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.3001G>A	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	G	0.285	-0.984011	0.02180	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.29917	1.55;1.96;1.55;1.55;1.55	4.78	1.5	0.22942	.	1.286500	0.04785	N	0.430429	T	0.16471	0.0396	N	0.12746	0.255	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.0	B;B;B;B;B	0.08055	0.003;0.001;0.001;0.001;0.002	T	0.24048	-1.0171	10	0.11485	T	0.65	-0.1465	6.3288	0.21259	0.2437:0.1581:0.5981:0.0	.	1001;1023;1001;1023;1001	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	T	1001;1001;1001;1023;855	ENSP00000372290:A1001T;ENSP00000324587:A1001T;ENSP00000443617:A1001T;ENSP00000427505:A1023T;ENSP00000427260:A855T	ENSP00000324587:A1001T	A	+	1	0	FAM193A	2671571	0.005000	0.15991	0.013000	0.15412	0.002000	0.02628	0.630000	0.24553	0.427000	0.26145	-0.150000	0.13652	GCT		0.537	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		6	120	0	0	0	1	0	6	120				
TTN	7273	broad.mit.edu	37	2	179430797	179430797	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:179430797G>T	ENST00000591111.1	-	276	75363	c.75139C>A	c.(75139-75141)Cag>Aag	p.Q25047K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q17748K|TTN_ENST00000460472.2_Missense_Mutation_p.Q17623K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q26688K|TTN_ENST00000342175.6_Missense_Mutation_p.Q17815K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q24120K|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25047	Fibronectin type-III 82. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCAAATTCTGTGGTGGTCCT	0.423																																						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.(80062-80064)Cag>Aag		titin							185.0	176.0	179.0					2																	179430797		1886	4112	5998	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430797G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.75139C>A	2.37:g.179430797G>T	ENSP00000465570:p.Gln25047Lys					TTN_ENST00000342175.6_Missense_Mutation_p.Q17815K|TTN_ENST00000460472.2_Missense_Mutation_p.Q17623K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q17748K|TTN_ENST00000342992.6_Missense_Mutation_p.Q24120K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q25047K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA	p.Q26688K	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	80286	-			25047			Fibronectin type-III 94.		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.80062C>A		.	.	.	.	.	.	.	.	.	.	G	10.46	1.357116	0.24598	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.81	4.92	0.64577	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47414	0.1444	L	0.46614	1.455	0.29760	N	0.835637	B;B;B;B	0.27498	0.18;0.18;0.18;0.066	B;B;B;B	0.18871	0.023;0.023;0.023;0.016	T	0.51725	-0.8669	9	0.87932	D	0	.	14.0975	0.65032	0.0:0.0:0.7273:0.2727	.	17623;17748;17815;25047	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	24120;17623;17815;17748;17621	ENSP00000343764:Q24120K;ENSP00000434586:Q17623K;ENSP00000340554:Q17815K;ENSP00000352154:Q17748K	ENSP00000340554:Q17815K	Q	-	1	0	TTN	179139043	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	4.566000	0.60843	1.438000	0.47492	0.555000	0.69702	CAG		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	245	1	0	0.00307968	1	0.0031158	8	245				
FADS2	9415	broad.mit.edu	37	11	61583770	61583770	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:61583770G>A	ENST00000257261.6	+	1	43	c.13G>A	c.(13-15)Gag>Aag	p.E5K	FADS1_ENST00000433932.1_5'Flank|FADS1_ENST00000542506.1_5'Flank|FADS2_ENST00000522056.1_5'Flank|MIR1908_ENST00000410394.1_RNA|FADS1_ENST00000541683.1_Intron|FADS1_ENST00000350997.7_Intron|FADS2_ENST00000574708.1_Intron|FADS2_ENST00000517839.1_5'Flank|FADS2_ENST00000522639.1_5'Flank	NM_001281501.1|NM_001281502.1	NP_001268430.1|NP_001268431.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	0					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	GCACGGCAGGGAGGCGGGACC	0.632																																						ENST00000257261.6																			0				breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(13-15)Gag>Aag		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)						55.0	57.0	56.0					11																	61583770		875	1990	2865	SO:0001583	missense	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61583770G>A	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000257261.6:c.13G>A	11.37:g.61583770G>A	ENSP00000257261:p.Glu5Lys					FADS2_ENST00000574708.1_Intron|FADS1_ENST00000541683.1_Intron|FADS1_ENST00000350997.7_Intron	p.E5K			O95864	FADS2_HUMAN			1	43	+			0					A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	ENST00000257261.6	37	c.13G>A		.	.	.	.	.	.	.	.	.	.	G	11.12	1.545340	0.27652	.	.	ENSG00000134824	ENST00000257261	T	0.24538	1.85	3.52	0.424	0.16468	.	.	.	.	.	T	0.17874	0.0429	.	.	.	0.09310	N	0.999994	B	0.19817	0.039	B	0.14023	0.01	T	0.23940	-1.0174	8	0.87932	D	0	.	6.7589	0.23530	0.3288:0.0:0.6712:0.0	.	5	O95864-2	.	K	5	ENSP00000257261:E5K	ENSP00000257261:E5K	E	+	1	0	FADS2	61340346	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.083000	0.14871	-0.030000	0.13804	0.561000	0.74099	GAG		0.632	FADS2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000375581.1	NM_004265		4	67	0	0	0	1	0	4	67				
TBC1D2B	23102	broad.mit.edu	37	15	78294029	78294029	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr15:78294029C>G	ENST00000300584.3	-	12	2627	c.2628G>C	c.(2626-2628)ttG>ttC	p.L876F	TBC1D2B_ENST00000492078.1_5'Flank|TBC1D2B_ENST00000409931.3_Missense_Mutation_p.L876F	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	876							Rab GTPase activator activity (GO:0005097)			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CTTGCAATTTCAAAATCTCCT	0.418																																						ENST00000409931.3																			0				breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2626-2628)ttG>ttC		TBC1 domain family, member 2B							60.0	55.0	57.0					15																	78294029		2195	4291	6486	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78294029C>G	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2628G>C	15.37:g.78294029C>G	ENSP00000300584:p.Leu876Phe					TBC1D2B_ENST00000300584.3_Missense_Mutation_p.L876F	p.L876F			Q9UPU7	TBD2B_HUMAN			12	2699	-			876					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.2628G>C	CCDS45314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.22|18.22	3.576717|3.576717	0.65878|0.65878	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000409931;ENST00000300584|ENST00000418039	T;T|.	0.32023|.	1.47;1.47|.	5.61|5.61	5.61|5.61	0.85477|0.85477	Rab-GAP/TBC domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78710|.	0.4326|.	M|M	0.91140|0.91140	3.18|3.18	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.80764|.	0.989;0.994|.	T|.	0.82224|.	-0.0563|.	9|.	.|.	.|.	.|.	.|.	8.2188|8.2188	0.31528|0.31528	0.0:0.8313:0.0:0.1687|0.0:0.8313:0.0:0.1687	.|.	876;876|.	Q9UPU7-2;Q9UPU7|.	.;TBD2B_HUMAN|.	F|S	876|758	ENSP00000387165:L876F;ENSP00000300584:L876F|.	.|.	L|X	-|-	3|2	2|2	TBC1D2B|TBC1D2B	76081084|76081084	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.678000|0.678000	0.39670|0.39670	1.446000|1.446000	0.35090|0.35090	2.626000|2.626000	0.88956|0.88956	0.561000|0.561000	0.74099|0.74099	TTG|TGA		0.418	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		3	15	0	0	0	1	0	3	15				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																197331							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	169	0	0	0	1	0	4	169				
ZNF184	7738	broad.mit.edu	37	6	27424610	27424610	+	Missense_Mutation	SNP	C	C	T	rs375506890		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:27424610C>T	ENST00000211936.6	-	5	577	c.293G>A	c.(292-294)tGt>tAt	p.C98Y	ZNF184_ENST00000377419.1_Missense_Mutation_p.C98Y	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	98	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTTACCTGCACAGGTACCTAC	0.438																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(292-294)tGt>tAt		zinc finger protein 184		C	TYR/CYS	0,4406		0,0,2203	134.0	118.0	124.0		293	-10.3	0.0	6		124	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNF184	NM_007149.2	194	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	98/752	27424610	1,13005	2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27424610C>T	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.293G>A	6.37:g.27424610C>T	ENSP00000211936:p.Cys98Tyr					ZNF184_ENST00000377419.1_Missense_Mutation_p.C98Y	p.C98Y	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			5	577	-			98			KRAB.		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.293G>A	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	1.219	-0.627518	0.03610	0.0	1.16E-4	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.07567	3.18;3.18	5.14	-10.3	0.00346	Krueppel-associated box (1);	2.374040	0.01470	N	0.016257	T	0.01156	0.0038	L	0.45581	1.43	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45411	-0.9263	10	0.02654	T	1	.	5.2477	0.15506	0.2291:0.4238:0.2666:0.0804	.	98	Q99676	ZN184_HUMAN	Y	98	ENSP00000211936:C98Y;ENSP00000366636:C98Y	ENSP00000211936:C98Y	C	-	2	0	ZNF184	27532589	0.000000	0.05858	0.000000	0.03702	0.644000	0.38419	-4.188000	0.00277	-2.948000	0.00294	-1.115000	0.02055	TGT		0.438	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		4	99	0	0	0	1	0	4	99				
BCL6B	255877	broad.mit.edu	37	17	6928498	6928498	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:6928498G>A	ENST00000293805.5	+	5	960	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	290					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						ATCACCCTCTGAACGGGCTCG	0.567																																						ENST00000293805.5																			0				skin(1)	1						c.(868-870)Gaa>Aaa		B-cell CLL/lymphoma 6, member B							128.0	134.0	132.0					17																	6928498		1905	4126	6031	SO:0001583	missense	255877					nucleus	zinc ion binding	g.chr17:6928498G>A	AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.868G>A	17.37:g.6928498G>A	ENSP00000293805:p.Glu290Lys						p.E290K	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN			5	960	+			290					Q6PCB4	Missense_Mutation	SNP	ENST00000293805.5	37	c.868G>A	CCDS42248.1	.	.	.	.	.	.	.	.	.	.	G	4.413	0.076395	0.08485	.	.	ENSG00000161940	ENST00000293805	T	0.07216	3.21	5.35	4.37	0.52481	.	0.628466	0.16672	N	0.204313	T	0.06554	0.0168	L	0.39898	1.24	0.22305	N	0.999212	B	0.06786	0.001	B	0.04013	0.001	T	0.41324	-0.9515	10	0.06494	T	0.89	.	9.2559	0.37584	0.0985:0.0:0.9015:0.0	.	290	Q8N143	BCL6B_HUMAN	K	290	ENSP00000293805:E290K	ENSP00000293805:E290K	E	+	1	0	BCL6B	6869222	0.999000	0.42202	0.363000	0.25875	0.051000	0.14879	1.779000	0.38624	1.598000	0.50083	0.655000	0.94253	GAA		0.567	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439455.2	NM_181844		13	155	0	0	0	1	0	13	155				
PLCH2	9651	broad.mit.edu	37	1	2411641	2411641	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:2411641G>C	ENST00000419816.2	+	4	809	c.535G>C	c.(535-537)Gac>Cac	p.D179H	PLCH2_ENST00000449969.1_Missense_Mutation_p.D152H|PLCH2_ENST00000378488.3_Missense_Mutation_p.D179H|PLCH2_ENST00000378486.3_Missense_Mutation_p.D179H|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	179	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GCAGACGTTTGACGAGGCCGA	0.617																																						ENST00000449969.1																			0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20						c.(454-456)Gac>Cac		phospholipase C, eta 2							91.0	101.0	97.0					1																	2411641		2164	4262	6426	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2411641G>C	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.535G>C	1.37:g.2411641G>C	ENSP00000389803:p.Asp179His					PLCH2_ENST00000419816.2_Missense_Mutation_p.D179H|PLCH2_ENST00000378488.3_Missense_Mutation_p.D179H|PLCH2_ENST00000378486.3_Missense_Mutation_p.D179H|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378483.2_Intron	p.D152H			O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	4	615	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	179			Necessary for plasma membrane localization (By similarity).|PH.		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.454G>C		.	.	.	.	.	.	.	.	.	.	G	14.45	2.539148	0.45176	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889	T;T;T	0.72615	-0.67;-0.67;-0.67	5.01	5.01	0.66863	EF-hand-like domain (1);	0.174426	0.49916	D	0.000128	T	0.79650	0.4482	L	0.46670	1.46	0.80722	D	1	D	0.69078	0.997	D	0.67231	0.95	T	0.81769	-0.0781	10	0.72032	D	0.01	.	17.3157	0.87224	0.0:0.0:1.0:0.0	.	179	O75038	PLCH2_HUMAN	H	152;179;179;26	ENSP00000397289:D152H;ENSP00000367747:D179H;ENSP00000367749:D179H	ENSP00000341313:D26H	D	+	1	0	PLCH2	2401501	0.995000	0.38212	0.935000	0.37517	0.576000	0.36127	3.212000	0.51145	2.355000	0.79922	0.561000	0.74099	GAC		0.617	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638		45	156	0	0	0	1	0	45	156				
SLC4A3	6508	broad.mit.edu	37	2	220505519	220505519	+	Silent	SNP	G	G	A	rs374261550		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:220505519G>A	ENST00000358055.3	+	22	3968	c.3456G>A	c.(3454-3456)acG>acA	p.T1152T	SLC4A3_ENST00000373762.3_Silent_p.T1179T|SLC4A3_ENST00000373760.2_Silent_p.T1152T|SLC4A3_ENST00000273063.6_Silent_p.T1179T|SLC4A3_ENST00000317151.3_Silent_p.T1152T			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1152	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTGAAGACGTGGCGGATGC	0.647																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(3454-3456)acG>acA		solute carrier family 4 (anion exchanger), member 3		G	,	0,4406		0,0,2203	54.0	43.0	47.0		3456,3537	-7.4	0.9	2		47	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC4A3	NM_005070.3,NM_201574.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1152/1233,1179/1260	220505519	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220505519G>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3456G>A	2.37:g.220505519G>A						SLC4A3_ENST00000273063.6_Silent_p.T1179T|SLC4A3_ENST00000317151.3_Silent_p.T1152T|SLC4A3_ENST00000373760.2_Silent_p.T1152T|SLC4A3_ENST00000373762.3_Silent_p.T1179T	p.T1152T			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	22	3968	+		Renal(207;0.0183)	1152			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	37	c.3456G>A	CCDS2445.1																																																																																				0.647	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		8	49	0	0	0	1	0	8	49				
PCDHGA5	56110	broad.mit.edu	37	5	140744753	140744753	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:140744753G>C	ENST00000518069.1	+	1	856	c.856G>C	c.(856-858)Gaa>Caa	p.E286Q	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	286	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGAAGAAGAAAAAATTTC	0.448																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(856-858)Gaa>Caa									37.0	37.0	37.0					5																	140744753		1876	4113	5989	SO:0001583	missense	56110							g.chr5:140744753G>C	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.856G>C	5.37:g.140744753G>C	ENSP00000429834:p.Glu286Gln					PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	p.E286Q	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	856	+								Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.856G>C	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	9.803	1.181020	0.21787	.	.	ENSG00000253485	ENST00000518069	T	0.01725	4.67	5.52	5.52	0.82312	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02342	0.0072	L	0.38649	1.16	0.21719	N	0.999574	B;B	0.18166	0.005;0.026	B;B	0.27715	0.018;0.082	T	0.44877	-0.9299	9	0.30854	T	0.27	.	10.0508	0.42214	0.1512:0.0:0.8488:0.0	.	286;286	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	Q	286	ENSP00000429834:E286Q	ENSP00000429834:E286Q	E	+	1	0	PCDHGA5	140724937	0.041000	0.20044	1.000000	0.80357	0.879000	0.50718	1.409000	0.34680	2.756000	0.94617	0.563000	0.77884	GAA		0.448	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		11	49	0	0	0	1	0	11	49				
TTK	7272	broad.mit.edu	37	6	80749472	80749472	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:80749472G>A	ENST00000369798.2	+	19	2301	c.2190G>A	c.(2188-2190)ggG>ggA	p.G730G	TTK_ENST00000509894.1_Silent_p.G729G|TTK_ENST00000230510.3_Silent_p.G729G	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	730	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGACTTACGGGAAAACACCAT	0.313																																						ENST00000509894.1																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2185-2187)ggG>ggA		TTK protein kinase							69.0	71.0	70.0					6																	80749472		2203	4283	6486	SO:0001819	synonymous_variant	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80749472G>A		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2190G>A	6.37:g.80749472G>A						TTK_ENST00000369798.2_Silent_p.G730G|TTK_ENST00000230510.3_Silent_p.G729G	p.G729G			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	19	3016	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	730			Protein kinase.		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Silent	SNP	ENST00000369798.2	37	c.2187G>A	CCDS4993.1																																																																																				0.313	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			5	198	0	0	0	1	0	5	198				
ELN	2006	broad.mit.edu	37	7	73474269	73474269	+	Missense_Mutation	SNP	G	G	T	rs200557183		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:73474269G>T	ENST00000252034.7	+	23	1867	c.1468G>T	c.(1468-1470)Ggt>Tgt	p.G490C	CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Missense_Mutation_p.G466C|ELN_ENST00000445912.1_Missense_Mutation_p.G490C|ELN_ENST00000458204.1_Missense_Mutation_p.G480C|ELN_ENST00000358929.4_Missense_Mutation_p.G525C|ELN_ENST00000380576.5_Missense_Mutation_p.G471C|ELN_ENST00000357036.5_Missense_Mutation_p.G495C|ELN_ENST00000380553.4_Missense_Mutation_p.G354C|ELN_ENST00000429192.1_Missense_Mutation_p.G476C|ELN_ENST00000380575.4_Missense_Mutation_p.G461C|ELN_ENST00000380562.4_Missense_Mutation_p.G496C|ELN_ENST00000320399.6_Missense_Mutation_p.G490C|ELN_ENST00000380584.4_Missense_Mutation_p.G457C|ELN_ENST00000320492.7_Missense_Mutation_p.G409C	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TCCTGGTGTCGGTGTGGCTCC	0.602			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1468-1470)Ggt>Tgt		elastin	Rofecoxib(DB00533)						214.0	201.0	206.0					7																	73474269		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474269G>T		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1468G>T	7.37:g.73474269G>T	ENSP00000252034:p.Gly490Cys					ELN_ENST00000380584.4_Missense_Mutation_p.G457C|ELN_ENST00000445912.1_Missense_Mutation_p.G490C|ELN_ENST00000429192.1_Missense_Mutation_p.G476C|ELN_ENST00000380562.4_Missense_Mutation_p.G496C|ELN_ENST00000320399.6_Missense_Mutation_p.G490C|ELN_ENST00000320492.7_Missense_Mutation_p.G409C|ELN_ENST00000358929.4_Missense_Mutation_p.G525C|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Missense_Mutation_p.G466C|ELN_ENST00000380553.4_Missense_Mutation_p.G354C|ELN_ENST00000380575.4_Missense_Mutation_p.G461C|ELN_ENST00000380576.5_Missense_Mutation_p.G471C|ELN_ENST00000357036.5_Missense_Mutation_p.G495C|ELN_ENST00000458204.1_Missense_Mutation_p.G480C	p.G490C	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN			23	1867	+		Lung NSC(55;0.159)	519			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.1468G>T	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018700	0.35606	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38240	1.29;1.24;1.19;1.25;1.27;1.22;1.25;1.27;1.23;1.22;1.3;1.15;1.29;1.22	1.83	1.83	0.25207	.	.	.	.	.	T	0.54415	0.1857	.	.	.	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.81914	0.995;0.995;0.995;0.995;0.995;0.995;0.995;0.995;0.995;0.995;0.995;0.995;0.995	T	0.54735	-0.8249	8	0.48119	T	0.1	.	9.3072	0.37883	0.0:0.0:1.0:0.0	.	490;409;466;480;496;461;476;495;471;354;401;457;490	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	C	490;490;525;409;466;496;461;457;480;495;476;354;471;490	ENSP00000389857:G490C;ENSP00000252034:G490C;ENSP00000351807:G525C;ENSP00000315607:G409C;ENSP00000392575:G466C;ENSP00000369936:G496C;ENSP00000369949:G461C;ENSP00000369958:G457C;ENSP00000403162:G480C;ENSP00000349540:G495C;ENSP00000391129:G476C;ENSP00000369926:G354C;ENSP00000369950:G471C;ENSP00000313565:G490C	ENSP00000252034:G490C	G	+	1	0	ELN	73112205	1.000000	0.71417	0.003000	0.11579	0.001000	0.01503	2.592000	0.46171	1.041000	0.40125	0.555000	0.69702	GGT		0.602	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		36	223	1	0	2.51541e-25	1	2.75497e-25	36	223				
RP11-383M4.6	0	broad.mit.edu	37	9	84562529	84562529	+	lincRNA	SNP	G	G	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:84562529G>C	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							ATGATCCGGAGACATCTTCAG	0.483																																						ENST00000585776.1																			0																				80.0	63.0	68.0					9																	84562529		650	1560	2210			0							g.chr9:84562529G>C																													9.37:g.84562529G>C						SPATA31D3_ENST00000334208.4_RNA								0	942	-									RNA	SNP	ENST00000585776.1	37																																																																																						0.483	RP11-383M4.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453562.1			8	70	0	0	0	1	0	8	70				
IL1RAPL2	26280	broad.mit.edu	37	X	105011449	105011449	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:105011449G>C	ENST00000372582.1	+	11	2612	c.1856G>C	c.(1855-1857)aGa>aCa	p.R619T	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.R619T	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	619					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CACTGTTGCAGAGGTTATAAA	0.483																																						ENST00000372582.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1855-1857)aGa>aCa		interleukin 1 receptor accessory protein-like 2							121.0	112.0	115.0					X																	105011449		2203	4300	6503	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:105011449G>C	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1856G>C	X.37:g.105011449G>C	ENSP00000361663:p.Arg619Thr					IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.R224T|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.R619T	p.R619T	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN			11	2612	+			619					Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.1856G>C	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.429170	0.43122	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.06449	3.54;3.54;3.3	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.20333	0.0489	M	0.72894	2.215	0.58432	D	0.999998	D	0.63880	0.993	P	0.55508	0.777	T	0.00088	-1.2091	10	0.48119	T	0.1	.	18.0793	0.89438	0.0:0.0:1.0:0.0	.	619	Q9NP60	IRPL2_HUMAN	T	619;619;224	ENSP00000361663:R619T;ENSP00000344976:R619T;ENSP00000445576:R224T	ENSP00000344976:R619T	R	+	2	0	IL1RAPL2	104898105	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	9.456000	0.97628	2.492000	0.84095	0.597000	0.82753	AGA		0.483	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		25	124	0	0	0	1	0	25	124				
LRP1B	53353	broad.mit.edu	37	2	141202206	141202206	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:141202206C>G	ENST00000389484.3	-	64	11071	c.10100G>C	c.(10099-10101)gGa>gCa	p.G3367A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3367	LDL-receptor class A 22. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCACAGAGTCCAGTCCCACA	0.418										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(10099-10101)gGa>gCa		low density lipoprotein receptor-related protein 1B							97.0	90.0	93.0					2																	141202206		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141202206C>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10100G>C	2.37:g.141202206C>G	ENSP00000374135:p.Gly3367Ala	TSP Lung(27;0.18)					p.G3367A	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	64	11071	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3367			LDL-receptor class A 22.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10100G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107679	0.94292	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96334	-3.98	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.98314	0.9441	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97855	1.0277	10	0.41790	T	0.15	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	3367	Q9NZR2	LRP1B_HUMAN	A	3367;3305	ENSP00000374135:G3367A	ENSP00000374135:G3367A	G	-	2	0	LRP1B	140918676	1.000000	0.71417	0.983000	0.44433	0.998000	0.95712	6.070000	0.71220	2.767000	0.95098	0.563000	0.77884	GGA		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		8	87	0	0	0	1	0	8	87				
ASTN2	23245	broad.mit.edu	37	9	119738468	119738468	+	Splice_Site	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:119738468C>G	ENST00000313400.4	-	9	1777		c.e9-1		ASTN2_ENST00000361477.3_Splice_Site|ASTN2_ENST00000361209.2_Splice_Site|ASTN2_ENST00000373996.3_Splice_Site			O75129	ASTN2_HUMAN	astrotactin 2						negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGGCCAAGGTCTATGGGAAGA	0.493																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.e9-1		astrotactin 2							78.0	71.0	73.0					9																	119738468		2203	4300	6503	SO:0001630	splice_region_variant	23245					integral to membrane		g.chr9:119738468C>G	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1677-1G>C	9.37:g.119738468C>G						ASTN2_ENST00000361477.3_Splice_Site|ASTN2_ENST00000373996.3_Splice_Site|ASTN2_ENST00000361209.2_Splice_Site				O75129	ASTN2_HUMAN			9	1777	-								A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Splice_Site	SNP	ENST00000313400.4	37			.	.	.	.	.	.	.	.	.	.	C	20.5	3.992824	0.74703	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3057	0.94161	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASTN2	118778289	1.000000	0.71417	0.998000	0.56505	0.639000	0.38242	7.653000	0.83643	2.657000	0.90304	0.655000	0.94253	.		0.493	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	Intron	13	38	0	0	0	1	0	13	38				
DMTF1	9988	broad.mit.edu	37	7	86817523	86817523	+	Silent	SNP	T	T	C	rs149430074		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:86817523T>C	ENST00000394703.5	+	15	1880	c.1317T>C	c.(1315-1317)caT>caC	p.H439H	DMTF1_ENST00000413276.2_Intron|DMTF1_ENST00000414194.2_Silent_p.H173H|DMTF1_ENST00000432937.2_Silent_p.H351H|DMTF1_ENST00000331242.7_Silent_p.H439H	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	439	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GTGTGCAGCATGTTCAGATAA	0.423																																						ENST00000414194.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16						c.(517-519)caT>caC		cyclin D binding myb-like transcription factor 1		T	,,	1,4405	2.1+/-5.4	0,1,2202	162.0	154.0	157.0		1053,1317,1317	1.9	1.0	7	dbSNP_134	157	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DMTF1	NM_001142326.1,NM_001142327.1,NM_021145.3	,,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,,	351/673,439/761,439/761	86817523	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86817523T>C	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1317T>C	7.37:g.86817523T>C						DMTF1_ENST00000394703.5_Silent_p.H439H|DMTF1_ENST00000331242.7_Silent_p.H439H|DMTF1_ENST00000432937.2_Silent_p.H351H|DMTF1_ENST00000413276.2_Intron	p.H173H			Q9Y222	DMTF1_HUMAN			13	2311	+	Esophageal squamous(14;0.0058)		439			Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Silent	SNP	ENST00000394703.5	37	c.519T>C	CCDS5601.1																																																																																				0.423	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		50	129	0	0	0	1	0	50	129				
AC018462.2	0	broad.mit.edu	37	2	62373555	62373555	+	RNA	SNP	T	T	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:62373555T>A	ENST00000425966.2	-	0	143				AC018462.2_ENST00000421323.1_RNA																							gagGAGGATGTCCTTAAGTTC	0.458																																						ENST00000425966.2																			0																																																			150684							g.chr2:62373555T>A																													2.37:g.62373555T>A						AC018462.2_ENST00000421323.1_RNA								0	143	-									RNA	SNP	ENST00000425966.2	37																																																																																						0.458	AC018462.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000326542.3			5	17	0	0	0	1	0	5	17				
OSMR	9180	broad.mit.edu	37	5	38925400	38925400	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:38925400C>G	ENST00000274276.3	+	15	2541	c.2139C>G	c.(2137-2139)ttC>ttG	p.F713L		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	713	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					ATGAGTTTTTCATCACTCCAT	0.438																																						ENST00000274276.3																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2137-2139)ttC>ttG		oncostatin M receptor							141.0	129.0	133.0					5																	38925400		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38925400C>G	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.2139C>G	5.37:g.38925400C>G	ENSP00000274276:p.Phe713Leu						p.F713L	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN			15	2541	+	all_lung(31;0.000365)		713			Fibronectin type-III 4.		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.2139C>G	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	C	3.587	-0.084334	0.07097	.	.	ENSG00000145623	ENST00000274276	T	0.52295	0.67	5.76	-5.82	0.02333	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.411430	0.03953	N	0.288768	T	0.22126	0.0533	N	0.04043	-0.29	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.28839	-1.0031	10	0.10636	T	0.68	.	10.7393	0.46143	0.0948:0.3113:0.5307:0.0632	.	713	Q99650	OSMR_HUMAN	L	713	ENSP00000274276:F713L	ENSP00000274276:F713L	F	+	3	2	OSMR	38961157	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	-3.046000	0.00630	-0.850000	0.04152	-0.140000	0.14226	TTC		0.438	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		81	124	0	0	0	1	0	81	124				
GABRE	2564	broad.mit.edu	37	X	151131098	151131098	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:151131098G>A	ENST00000370328.3	-	4	413	c.360C>T	c.(358-360)atC>atT	p.I120I	MIR452_ENST00000385020.1_RNA|GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370325.1_Silent_p.I120I	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	120					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGGAGAAGATGATGTCAATGG	0.478																																						ENST00000370325.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27						c.(358-360)atC>atT		gamma-aminobutyric acid (GABA) A receptor, epsilon							159.0	124.0	136.0					X																	151131098		2203	4300	6503	SO:0001819	synonymous_variant	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151131098G>A	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.360C>T	X.37:g.151131098G>A						GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Silent_p.I120I	p.I120I			P78334	GBRE_HUMAN			4	413	-	Acute lymphoblastic leukemia(192;6.56e-05)		120					E7ET93|O15345|O15346|Q6PCD2|Q99520	Silent	SNP	ENST00000370328.3	37	c.360C>T	CCDS14703.1																																																																																				0.478	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		14	103	0	0	0	1	0	14	103				
CYFIP1	23191	broad.mit.edu	37	15	22925804	22925804	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr15:22925804G>A	ENST00000313077.7	+	2	147	c.22G>A	c.(22-24)Gag>Aag	p.E8K	CYFIP1_ENST00000560848.1_Missense_Mutation_p.E8K	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GGTGACTCTGGAGGACGCGCT	0.642																																						ENST00000313077.7																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(22-24)Gag>Aag		cytoplasmic FMR1 interacting protein 1							39.0	40.0	40.0					15																	22925804		2203	4300	6503	SO:0001583	missense	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22925804G>A	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.22G>A	15.37:g.22925804G>A	ENSP00000324549:p.Glu8Lys					CYFIP1_ENST00000560848.1_Missense_Mutation_p.E8K	p.E8K	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	2	147	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	8						Missense_Mutation	SNP	ENST00000313077.7	37	c.22G>A	CCDS10009.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349484	0.82132	.	.	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.44881	0.91	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	L	0.41961	1.31	0.80722	D	1	P;P	0.49090	0.919;0.907	B;P	0.50791	0.3;0.65	T	0.18713	-1.0328	10	0.25106	T	0.35	-35.6476	19.6223	0.95663	0.0:0.0:1.0:0.0	.	66;8	E7EQ04;Q7L576	.;CYFP1_HUMAN	K	8;66	ENSP00000324549:E8K	ENSP00000324549:E8K	E	+	1	0	CYFIP1	20477245	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	9.592000	0.98245	2.712000	0.92718	0.561000	0.74099	GAG		0.642	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2	NM_014608		7	34	0	0	0	1	0	7	34				
CENPF	1063	broad.mit.edu	37	1	214826293	214826293	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:214826293A>T	ENST00000366955.3	+	16	8451	c.8283A>T	c.(8281-8283)aaA>aaT	p.K2761N	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2857	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATTCATTGAAAGCTACTACTC	0.338																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(8281-8283)aaA>aaT		centromere protein F, 350/400kDa							89.0	94.0	92.0					1																	214826293		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214826293A>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8283A>T	1.37:g.214826293A>T	ENSP00000355922:p.Lys2761Asn					CENPF_ENST00000467765.1_3'UTR	p.K2761N	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	16	8451	+			2857			Sufficient for centromere localization.|Sufficient for self-association.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.8283A>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.263539	0.39995	.	.	ENSG00000117724	ENST00000366955;ENST00000391896	T	0.03860	3.78	3.93	2.78	0.32641	.	.	.	.	.	T	0.07324	0.0185	L	0.39898	1.24	0.25565	N	0.986959	D	0.59357	0.985	P	0.51974	0.686	T	0.31308	-0.9948	9	0.41790	T	0.15	.	4.9398	0.13960	0.7147:0.186:0.0993:0.0	.	2857	P49454	CENPF_HUMAN	N	2761;160	ENSP00000355922:K2761N	ENSP00000355922:K2761N	K	+	3	2	CENPF	212892916	0.973000	0.33851	0.078000	0.20375	0.550000	0.35303	1.857000	0.39399	0.409000	0.25649	0.418000	0.28097	AAA		0.338	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		31	140	0	0	0	1	0	31	140				
FNDC4	64838	broad.mit.edu	37	2	27715639	27715639	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:27715639C>A	ENST00000264703.3	-	6	954	c.563G>T	c.(562-564)tGc>tTc	p.C188F	IFT172_ENST00000416524.2_5'Flank|IFT172_ENST00000359466.6_5'Flank	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	188						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					ATACTGACGGCAGAACAGCCC	0.502																																						ENST00000264703.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9						c.(562-564)tGc>tTc		fibronectin type III domain containing 4							125.0	112.0	116.0					2																	27715639		2203	4300	6503	SO:0001583	missense	64838					integral to membrane		g.chr2:27715639C>A	AK026015	CCDS1756.1	2p23.3	2013-02-11			ENSG00000115226	ENSG00000115226		"""Fibronectin type III domain containing"""	20239	protein-coding gene	gene with protein product		611905				12384288	Standard	NM_022823		Approved	FLJ22362, FRCP1	uc002rkx.3	Q9H6D8	OTTHUMG00000097787	ENST00000264703.3:c.563G>T	2.37:g.27715639C>A	ENSP00000264703:p.Cys188Phe						p.C188F	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN			6	954	-	Acute lymphoblastic leukemia(172;0.155)		188					D6W560	Missense_Mutation	SNP	ENST00000264703.3	37	c.563G>T	CCDS1756.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464971	0.84425	.	.	ENSG00000115226	ENST00000264703	T	0.10192	2.9	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.27278	0.0669	L	0.52011	1.625	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.00785	-1.1567	10	0.25751	T	0.34	-7.9543	17.4597	0.87617	0.0:1.0:0.0:0.0	.	188	Q9H6D8	FNDC4_HUMAN	F	188	ENSP00000264703:C188F	ENSP00000264703:C188F	C	-	2	0	FNDC4	27569143	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.893000	0.75649	2.468000	0.83385	0.467000	0.42956	TGC		0.502	FNDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215031.1	NM_022823		6	62	1	0	0.00116845	1	0.00119264	6	62				
TSPAN32	10077	broad.mit.edu	37	11	2339129	2339129	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:2339129G>A	ENST00000182290.4	+	10	1075	c.938G>A	c.(937-939)tGc>tAc	p.C313Y	TSPAN32_ENST00000451520.2_Missense_Mutation_p.C302Y|TSPAN32_ENST00000381121.3_Silent_p.V252V	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	313					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ctcagtgggtgccctgagcgg	0.597																																						ENST00000182290.4																			0				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8						c.(937-939)tGc>tAc		tetraspanin 32							61.0	61.0	61.0					11																	2339129		2202	4299	6501	SO:0001583	missense	10077				cell-cell signaling	integral to membrane		g.chr11:2339129G>A	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"""Tetraspanins"""	13410	protein-coding gene	gene with protein product		603853	"""pan-hematopoietic expression"""	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.938G>A	11.37:g.2339129G>A	ENSP00000182290:p.Cys313Tyr					TSPAN32_ENST00000381121.3_Silent_p.V252V|TSPAN32_ENST00000451520.2_Missense_Mutation_p.C302Y	p.C313Y	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	10	1075	+		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)	313					Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Missense_Mutation	SNP	ENST00000182290.4	37	c.938G>A	CCDS7733.1	.	.	.	.	.	.	.	.	.	.	.	0.149	-1.093315	0.01858	.	.	ENSG00000064201	ENST00000182290;ENST00000451520;ENST00000381117	T;T	0.54071	0.62;0.59	0.981	-1.96	0.07525	.	.	.	.	.	T	0.25791	0.0628	N	0.14661	0.345	0.09310	N	1	B;B;B	0.22480	0.07;0.061;0.07	B;B;B	0.10450	0.003;0.005;0.002	T	0.08911	-1.0699	9	0.31617	T	0.26	.	0.1026	0.00049	0.2293:0.2139:0.2433:0.3135	.	302;258;313	D3YTD1;G3XAG6;Q96QS1	.;.;TSN32_HUMAN	Y	313;302;258	ENSP00000182290:C313Y;ENSP00000405205:C302Y	ENSP00000182290:C313Y	C	+	2	0	TSPAN32	2295705	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.871000	0.04223	-1.837000	0.01189	-0.680000	0.03767	TGC		0.597	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024		4	23	0	0	0	1	0	4	23				
PGR	5241	broad.mit.edu	37	11	100909997	100909997	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:100909997G>A	ENST00000325455.5	-	8	4105	c.2652C>T	c.(2650-2652)gtC>gtT	p.V884V	PGR_ENST00000263463.5_Silent_p.V782V|PGR_ENST00000534013.1_Silent_p.V290V	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	884	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GAAGTTGTTTGACAAGCTGTT	0.308																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(2650-2652)gtC>gtT		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						79.0	77.0	78.0					11																	100909997		2203	4299	6502	SO:0001819	synonymous_variant	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100909997G>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2652C>T	11.37:g.100909997G>A						PGR_ENST00000263463.5_Silent_p.V782V|PGR_ENST00000534013.1_Silent_p.V290V	p.V884V	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	8	4105	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	884			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Silent	SNP	ENST00000325455.5	37	c.2652C>T	CCDS8310.1																																																																																				0.308	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			4	73	0	0	0	1	0	4	73				
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C	rs371325185	byFrequency	TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398													g|||	29	0.00579073	0.0008	0.0072	5008	,	,		22210	0.002		0.0109	False		,,,				2504	0.0102					ENST00000418868.1																			0																																																			220729							g.chr3:197348739G>C																													3.37:g.197348739G>C								NR_003266.2						0	520	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.398	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	210	0	0	0	1	0	5	210				
PTGDR	5729	broad.mit.edu	37	14	52734980	52734980	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:52734980G>A	ENST00000306051.2	+	1	550	c.448G>A	c.(448-450)Gca>Aca	p.A150T	PTGDR_ENST00000553372.1_Missense_Mutation_p.A150T	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	150					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GCGCCTGGGCGCACTGGTGGC	0.647																																						ENST00000306051.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(448-450)Gca>Aca		prostaglandin D2 receptor (DP)	Nedocromil(DB00716)						76.0	78.0	77.0					14																	52734980		2203	4300	6503	SO:0001583	missense	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52734980G>A	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.448G>A	14.37:g.52734980G>A	ENSP00000303424:p.Ala150Thr					PTGDR_ENST00000553372.1_Missense_Mutation_p.A150T	p.A150T	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN			1	550	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		150					G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	ENST00000306051.2	37	c.448G>A	CCDS9707.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.244196	0.22796	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.37752	1.18;1.18	4.71	3.82	0.43975	GPCR, rhodopsin-like superfamily (1);	0.506756	0.17058	N	0.188654	T	0.22704	0.0548	L	0.38175	1.15	0.09310	N	1	P	0.45957	0.869	B	0.36534	0.227	T	0.06972	-1.0797	10	0.20519	T	0.43	-5.8615	8.305	0.32036	0.0868:0.1569:0.7563:0.0	.	150	Q13258	PD2R_HUMAN	T	150	ENSP00000303424:A150T;ENSP00000452408:A150T	ENSP00000303424:A150T	A	+	1	0	PTGDR	51804730	0.011000	0.17503	0.155000	0.22561	0.779000	0.44077	1.444000	0.35068	1.293000	0.44690	0.563000	0.77884	GCA		0.647	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		15	107	0	0	0	1	0	15	107				
SLC25A42	284439	broad.mit.edu	37	19	19216416	19216416	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:19216416T>A	ENST00000318596.7	+	5	411	c.260T>A	c.(259-261)cTc>cAc	p.L87H	SLC25A42_ENST00000600275.1_Intron	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	87					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GAGGGATTTCTCAGCTTGTGG	0.632																																						ENST00000318596.7																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(259-261)cTc>cAc		solute carrier family 25, member 42							85.0	63.0	71.0					19																	19216416		2203	4300	6503	SO:0001583	missense	284439				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:19216416T>A		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"""Solute carriers"""	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.260T>A	19.37:g.19216416T>A	ENSP00000326693:p.Leu87His					SLC25A42_ENST00000600275.1_Intron	p.L87H	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)		5	411	+			87					D2T2J5|O14553|O43378	Missense_Mutation	SNP	ENST00000318596.7	37	c.260T>A	CCDS32966.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471157	0.63625	.	.	ENSG00000181035	ENST00000318596	T	0.79940	-1.32	4.37	4.37	0.52481	Mitochondrial carrier domain (2);	0.628930	0.16260	N	0.222288	T	0.81293	0.4792	M	0.69823	2.125	0.44042	D	0.99677	P;B	0.37158	0.585;0.045	P;B	0.45610	0.487;0.09	T	0.75158	-0.3416	10	0.16420	T	0.52	-0.1476	9.4517	0.38729	0.0:0.0:0.1784:0.8216	.	139;87	B7Z8R5;Q86VD7	.;S2542_HUMAN	H	87	ENSP00000326693:L87H	ENSP00000326693:L87H	L	+	2	0	SLC25A42	19077416	1.000000	0.71417	0.953000	0.39169	0.945000	0.59286	3.066000	0.50002	1.620000	0.50308	0.379000	0.24179	CTC		0.632	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526		4	36	0	0	0	1	0	4	36				
CACNA1H	8912	broad.mit.edu	37	16	1260953	1260953	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr16:1260953G>A	ENST00000348261.5	+	21	4453	c.4205G>A	c.(4204-4206)cGg>cAg	p.R1402Q	CACNA1H_ENST00000565831.1_Missense_Mutation_p.R1402Q|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R1402Q	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1402					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CGTCTGCTGCGGACCCTGCGG	0.692																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(4204-4206)cGg>cAg		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						78.0	93.0	88.0					16																	1260953		2175	4266	6441	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1260953G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4205G>A	16.37:g.1260953G>A	ENSP00000334198:p.Arg1402Gln					CACNA1H_ENST00000565831.1_Missense_Mutation_p.R1402Q|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R1402Q	p.R1402Q	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			21	4453	+		Hepatocellular(780;0.00369)	1402					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.4205G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502376	0.85176	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98762	-5.12;-5.12	4.11	4.11	0.48088	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99474	0.9813	H	0.97852	4.09	0.50171	D	0.999851	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;1.0;1.0;0.999;0.999	D	0.97889	1.0296	10	0.87932	D	0	.	15.8492	0.78912	0.0:0.0:1.0:0.0	.	143;143;143;1402;1402	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	Q	1402	ENSP00000334198:R1402Q;ENSP00000351401:R1402Q	ENSP00000334198:R1402Q	R	+	2	0	CACNA1H	1200954	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	7.568000	0.82369	2.297000	0.77311	0.491000	0.48974	CGG		0.692	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		17	183	0	0	0	1	0	17	183				
FRS3	10817	broad.mit.edu	37	6	41739249	41739249	+	Missense_Mutation	SNP	G	G	A	rs200242322	byFrequency	TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:41739249G>A	ENST00000373018.3	-	7	838	c.587C>T	c.(586-588)cCg>cTg	p.P196L	FRS3_ENST00000259748.2_Missense_Mutation_p.P196L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	196					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTCACTGGCCGGTGTGTTGAC	0.627													G|||	2	0.000399361	0.0008	0.0	5008	,	,		15252	0.0		0.0	False		,,,				2504	0.001					ENST00000373018.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(586-588)cCg>cTg		fibroblast growth factor receptor substrate 3							51.0	50.0	50.0					6																	41739249		2203	4288	6491	SO:0001583	missense	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41739249G>A	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.587C>T	6.37:g.41739249G>A	ENSP00000362109:p.Pro196Leu					FRS3_ENST00000259748.2_Missense_Mutation_p.P196L	p.P196L	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	838	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		196					Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	c.587C>T	CCDS4860.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.17	2.754807	0.49362	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.21734	1.99;1.99	5.43	5.43	0.79202	.	0.109581	0.64402	D	0.000010	T	0.12646	0.0307	L	0.54323	1.7	0.43977	D	0.996669	P	0.45569	0.861	B	0.32465	0.146	T	0.07195	-1.0785	10	0.72032	D	0.01	-23.3663	18.8334	0.92150	0.0:0.0:1.0:0.0	.	196	O43559	FRS3_HUMAN	L	196	ENSP00000362109:P196L;ENSP00000259748:P196L	ENSP00000259748:P196L	P	-	2	0	FRS3	41847227	0.999000	0.42202	0.689000	0.30133	0.997000	0.91878	3.143000	0.50608	2.564000	0.86499	0.655000	0.94253	CCG		0.627	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		18	122	0	0	0	1	0	18	122				
BCAS2	10286	broad.mit.edu	37	1	115123922	115123922	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:115123922C>G	ENST00000369541.3	-	2	231	c.184G>C	c.(184-186)Gaa>Caa	p.E62Q	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	62					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cell junction (GO:0030054)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)				biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATACTTACTTCAAAGGCAGAA	0.453																																						ENST00000369541.3																			0				biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13						c.(184-186)Gaa>Caa		breast carcinoma amplified sequence 2							200.0	202.0	201.0					1																	115123922		2203	4300	6503	SO:0001583	missense	10286				mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding	g.chr1:115123922C>G	AB020623	CCDS874.1	1p13.2	2010-01-25			ENSG00000116752	ENSG00000116752			975	protein-coding gene	gene with protein product		605783				9731529, 10403562	Standard	NM_005872		Approved	DAM1, SPF27, Snt309	uc001efa.3	O75934	OTTHUMG00000011898	ENST00000369541.3:c.184G>C	1.37:g.115123922C>G	ENSP00000358554:p.Glu62Gln					BCAS2_ENST00000485021.1_5'UTR	p.E62Q	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	231	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	62					Q6FGS0	Missense_Mutation	SNP	ENST00000369541.3	37	c.184G>C	CCDS874.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820127	0.71028	.	.	ENSG00000116752	ENST00000369541	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.50735	0.1633	M	0.63843	1.955	0.80722	D	1	B	0.16603	0.018	B	0.16722	0.016	T	0.52071	-0.8624	9	0.15499	T	0.54	-10.4352	18.252	0.90006	0.0:1.0:0.0:0.0	.	62	O75934	SPF27_HUMAN	Q	62	.	ENSP00000358554:E62Q	E	-	1	0	BCAS2	114925445	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.926000	0.75835	2.606000	0.88127	0.551000	0.68910	GAA		0.453	BCAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032871.1	NM_005872		39	205	0	0	0	1	0	39	205				
TRPM8	79054	broad.mit.edu	37	2	234878921	234878921	+	Missense_Mutation	SNP	G	G	A	rs200217624		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:234878921G>A	ENST00000324695.4	+	17	2246	c.2206G>A	c.(2206-2208)Gtg>Atg	p.V736M	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	736					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.V736M(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTCCCCCTTCGTGGTCTTCTC	0.547																																						ENST00000324695.4																			1	Substitution - Missense(1)	p.V736M(1)	endometrium(1)	breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(2206-2208)Gtg>Atg		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)	G	MET/VAL	0,4406		0,0,2203	457.0	387.0	411.0		2206	4.7	1.0	2		411	2,8598	2.2+/-6.3	0,2,4298	no	missense	TRPM8	NM_024080.4	21	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	736/1105	234878921	2,13004	2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234878921G>A	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2206G>A	2.37:g.234878921G>A	ENSP00000323926:p.Val736Met					TRPM8_ENST00000433712.2_Intron	p.V736M	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	17	2246	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	736					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.2206G>A	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071958	0.76301	0.0	2.33E-4	ENSG00000144481	ENST00000324695	T	0.65178	-0.14	4.72	4.72	0.59763	.	0.000000	0.56097	D	0.000032	T	0.76300	0.3968	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	P	0.62435	0.902	T	0.80099	-0.1524	10	0.87932	D	0	-24.9514	16.6947	0.85332	0.0:0.0:1.0:0.0	.	736	Q7Z2W7	TRPM8_HUMAN	M	736	ENSP00000323926:V736M	ENSP00000323926:V736M	V	+	1	0	TRPM8	234543660	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	5.801000	0.69115	2.357000	0.79964	0.558000	0.71614	GTG		0.547	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		38	235	0	0	0	1	0	38	235				
TMEM132E	124842	broad.mit.edu	37	17	32964777	32964777	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:32964777G>A	ENST00000321639.5	+	10	2809	c.2481G>A	c.(2479-2481)cgG>cgA	p.R827R		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	827						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGCGCTACCGGCACAAGCGCA	0.627																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(2479-2481)cgG>cgA		transmembrane protein 132E							77.0	72.0	73.0					17																	32964777		2203	4300	6503	SO:0001819	synonymous_variant	124842					integral to membrane		g.chr17:32964777G>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2481G>A	17.37:g.32964777G>A							p.R827R	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	2809	+			827					Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	c.2481G>A	CCDS11283.1																																																																																				0.627	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		4	122	0	0	0	1	0	4	122				
CEP128	145508	broad.mit.edu	37	14	81209453	81209453	+	Missense_Mutation	SNP	C	C	A	rs371653271		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:81209453C>A	ENST00000555265.1	-	19	3147	c.2772G>T	c.(2770-2772)gaG>gaT	p.E924D	CEP128_ENST00000281129.3_Missense_Mutation_p.E924D			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	924						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CCAGAAGCTGCTCCTGCCTTT	0.403																																						ENST00000555265.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2770-2772)gaG>gaT		centrosomal protein 128kDa							124.0	113.0	117.0					14																	81209453		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81209453C>A	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2772G>T	14.37:g.81209453C>A	ENSP00000451162:p.Glu924Asp					CEP128_ENST00000281129.3_Missense_Mutation_p.E924D	p.E924D			Q6ZU80	CE128_HUMAN			19	3147	-			924					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.2772G>T	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.629956	0.67015	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619;ENST00000554728	T;T	0.39787	1.06;1.06	5.34	2.3	0.28687	.	0.073643	0.52532	D	0.000062	T	0.25791	0.0628	N	0.25647	0.755	0.80722	D	1	B	0.29115	0.233	B	0.29598	0.104	T	0.05225	-1.0898	10	0.41790	T	0.15	.	5.824	0.18544	0.1374:0.6281:0.0:0.2344	.	924	Q6ZU80	CE128_HUMAN	D	924;924;924;125	ENSP00000281129:E924D;ENSP00000451162:E924D	ENSP00000281129:E924D	E	-	3	2	CEP128	80279206	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	0.438000	0.21559	0.728000	0.32382	0.561000	0.74099	GAG		0.403	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		16	109	1	0	6.49762e-13	1	7.00525e-13	16	109				
CCDC102B	79839	broad.mit.edu	37	18	66541979	66541979	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr18:66541979C>G	ENST00000360242.5	+	5	1127	c.1010C>G	c.(1009-1011)tCt>tGt	p.S337C	CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Missense_Mutation_p.S337C|CCDC102B_ENST00000358653.5_Missense_Mutation_p.S337C|CCDC102B_ENST00000319445.6_Missense_Mutation_p.S337C	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	337										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GAATCCAAATCTCAAAACAGC	0.328																																						ENST00000360242.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36						c.(1009-1011)tCt>tGt		coiled-coil domain containing 102B							113.0	97.0	103.0					18																	66541979		2203	4300	6503	SO:0001583	missense	79839							g.chr18:66541979C>G	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1010C>G	18.37:g.66541979C>G	ENSP00000353377:p.Ser337Cys					CCDC102B_ENST00000319445.6_Missense_Mutation_p.S337C|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Missense_Mutation_p.S337C|CCDC102B_ENST00000358653.5_Missense_Mutation_p.S337C	p.S337C	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN			5	1127	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	337					Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	c.1010C>G	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	c	0.558	-0.846544	0.02671	.	.	ENSG00000150636	ENST00000319445;ENST00000358653;ENST00000360242	T;T;T	0.19394	2.65;2.15;2.65	4.44	1.17	0.20885	.	0.984326	0.08285	N	0.969361	T	0.14614	0.0353	N	0.24115	0.695	0.09310	N	1	B;B	0.20261	0.043;0.043	B;B	0.21546	0.035;0.035	T	0.33369	-0.9871	10	0.52906	T	0.07	-0.8355	6.9772	0.24683	0.3385:0.4958:0.1657:0.0	.	337;337	Q68D86-3;Q68D86	.;C102B_HUMAN	C	337	ENSP00000316237:S337C;ENSP00000351479:S337C;ENSP00000353377:S337C	ENSP00000316237:S337C	S	+	2	0	CCDC102B	64692959	0.138000	0.22547	0.018000	0.16275	0.130000	0.20726	0.229000	0.17833	0.344000	0.23847	0.591000	0.81541	TCT		0.328	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		9	43	0	0	0	1	0	9	43				
IMMP1L	196294	broad.mit.edu	37	11	31484801	31484801	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:31484801T>C	ENST00000278200.1	-	3	218	c.23A>G	c.(22-24)aAa>aGa	p.K8R	IMMP1L_ENST00000528161.1_Intron|IMMP1L_ENST00000534812.1_Intron|IMMP1L_ENST00000526776.1_Missense_Mutation_p.K8R|IMMP1L_ENST00000532287.1_Missense_Mutation_p.K8R|IMMP1L_ENST00000533642.1_Intron	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)	8					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	serine-type peptidase activity (GO:0008236)			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					TCGAAAGGTTTTCCCCAGAAC	0.368																																						ENST00000278200.1																			0				breast(1)|cervix(1)|large_intestine(1)|lung(4)	7						c.(22-24)aAa>aGa		IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)							117.0	96.0	103.0					11																	31484801		2202	4299	6501	SO:0001583	missense	196294				proteolysis	mitochondrial inner membrane	serine-type peptidase activity	g.chr11:31484801T>C		CCDS7874.1	11p13	2014-07-30			ENSG00000148950	ENSG00000148950			26317	protein-coding gene	gene with protein product		612323					Standard	NM_144981		Approved	FLJ25059	uc001msy.1	Q96LU5	OTTHUMG00000166226	ENST00000278200.1:c.23A>G	11.37:g.31484801T>C	ENSP00000278200:p.Lys8Arg					IMMP1L_ENST00000526776.1_Missense_Mutation_p.K8R|IMMP1L_ENST00000533642.1_Intron|IMMP1L_ENST00000532287.1_Missense_Mutation_p.K8R|IMMP1L_ENST00000534812.1_Intron|IMMP1L_ENST00000528161.1_Intron	p.K8R	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN			3	218	-	Lung SC(675;0.225)		8					D3DQZ7|Q96SH9	Missense_Mutation	SNP	ENST00000278200.1	37	c.23A>G	CCDS7874.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.152280	0.57259	.	.	ENSG00000148950	ENST00000532287;ENST00000526776;ENST00000278200;ENST00000529749;ENST00000530023	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	L	0.41492	1.28	0.80722	D	1	D;P	0.63880	0.993;0.462	D;B	0.72625	0.978;0.105	T	0.52419	-0.8578	10	0.21540	T	0.41	-8.2613	15.4562	0.75314	0.0:0.0:0.0:1.0	.	8;8	E9PIG6;Q96LU5	.;IMP1L_HUMAN	R	8	ENSP00000435576:K8R;ENSP00000434280:K8R;ENSP00000278200:K8R;ENSP00000432001:K8R;ENSP00000432792:K8R	ENSP00000278200:K8R	K	-	2	0	IMMP1L	31441377	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.671000	0.68095	2.125000	0.65367	0.482000	0.46254	AAA		0.368	IMMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388496.1	NM_144981		20	56	0	0	0	1	0	20	56				
NPTX2	4885	broad.mit.edu	37	7	98256572	98256572	+	Silent	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:98256572C>T	ENST00000265634.3	+	4	1149	c.984C>T	c.(982-984)gaC>gaT	p.D328D		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	328	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.D328D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CATTCCAGGACGGAGAGAAGC	0.642																																						ENST00000265634.3																			1	Substitution - coding silent(1)	p.D328D(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(982-984)gaC>gaT		neuronal pentraxin II							99.0	81.0	87.0					7																	98256572		2203	4300	6503	SO:0001819	synonymous_variant	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98256572C>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.984C>T	7.37:g.98256572C>T							p.D328D	NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	1149	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		328			Pentaxin.		A4D267|Q86XV7|Q96G70	Silent	SNP	ENST00000265634.3	37	c.984C>T	CCDS5657.1																																																																																				0.642	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		9	55	0	0	0	1	0	9	55				
PELP1	27043	broad.mit.edu	37	17	4607333	4607333	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:4607333G>A	ENST00000574876.1	-	1	91	c.74C>T	c.(73-75)tCg>tTg	p.S25L	PELP1_ENST00000301396.4_Missense_Mutation_p.S25L|RP11-314A20.2_ENST00000497885.1_RNA|PELP1_ENST00000436683.2_5'UTR|PELP1_ENST00000269230.7_Missense_Mutation_p.S25L|PELP1_ENST00000570823.1_5'UTR|PELP1_ENST00000572293.1_Missense_Mutation_p.S75L			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	25					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GCTCACTGCCGAGAGACCCCC	0.701																																						ENST00000301396.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(73-75)tCg>tTg		proline, glutamate and leucine rich protein 1							14.0	19.0	17.0					17																	4607333		1895	4027	5922	SO:0001583	missense	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4607333G>A		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.74C>T	17.37:g.4607333G>A	ENSP00000461625:p.Ser25Leu					PELP1_ENST00000436683.2_5'UTR|PELP1_ENST00000269230.7_Missense_Mutation_p.S25L|PELP1_ENST00000574876.1_Missense_Mutation_p.S25L|PELP1_ENST00000570823.1_5'UTR|PELP1_ENST00000572293.1_Missense_Mutation_p.S75L	p.S25L			Q8IZL8	PELP1_HUMAN			1	299	-			25					O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	ENST00000574876.1	37	c.74C>T	CCDS58503.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047551	0.55110	.	.	ENSG00000141456	ENST00000301396;ENST00000269230	T;T	0.56444	0.46;0.61	5.44	4.46	0.54185	.	0.341737	0.24920	N	0.034551	T	0.33585	0.0868	N	0.24115	0.695	0.80722	D	1	B	0.25955	0.138	B	0.13407	0.009	T	0.12785	-1.0534	10	0.25751	T	0.34	-6.5198	9.1346	0.36866	0.0971:0.0:0.9029:0.0	.	25	Q8IZL8	PELP1_HUMAN	L	25	ENSP00000301396:S25L;ENSP00000269230:S25L	ENSP00000269230:S25L	S	-	2	0	AC091153.1	4554082	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	4.183000	0.58317	2.551000	0.86045	0.655000	0.94253	TCG		0.701	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		9	55	0	0	0	1	0	9	55				
DPF3	8110	broad.mit.edu	37	14	73181199	73181199	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:73181199G>A	ENST00000556509.1	-	6	535	c.536C>T	c.(535-537)tCt>tTt	p.S179F	DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Missense_Mutation_p.S189F|DPF3_ENST00000541685.1_Missense_Mutation_p.S179F	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	179					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GCCCCCTGCAGAGCCGCGAGC	0.597																																						ENST00000541685.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22						c.(535-537)tCt>tTt		D4, zinc and double PHD fingers, family 3							63.0	74.0	70.0					14																	73181199		2062	4195	6257	SO:0001583	missense	8110				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding	g.chr14:73181199G>A	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.536C>T	14.37:g.73181199G>A	ENSP00000450518:p.Ser179Phe					DPF3_ENST00000546183.1_Missense_Mutation_p.S189F|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Missense_Mutation_p.S179F	p.S179F	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	6	548	-			179					A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	37	c.536C>T		.	.	.	.	.	.	.	.	.	.	G	17.43	3.386532	0.61956	.	.	ENSG00000205683	ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.91237	-2.81;-0.26;-0.25	4.9	3.99	0.46301	.	.	.	.	.	D	0.87815	0.6272	L	0.34521	1.04	0.48511	D	0.999665	P;P;B	0.47350	0.894;0.884;0.007	P;B;B	0.47118	0.538;0.385;0.007	D	0.87476	0.2417	9	0.52906	T	0.07	.	13.0328	0.58851	0.0:0.0:0.8386:0.1614	.	189;179;179	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	F	179;178;179;189	ENSP00000450518:S179F;ENSP00000441640:S179F;ENSP00000444662:S189F	ENSP00000381791:S234F	S	-	2	0	DPF3	72250952	1.000000	0.71417	0.993000	0.49108	0.914000	0.54420	5.231000	0.65327	1.150000	0.42419	0.561000	0.74099	TCT		0.597	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2			5	70	0	0	0	1	0	5	70				
ARHGEF12	23365	broad.mit.edu	37	11	120322294	120322294	+	Silent	SNP	A	A	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:120322294A>G	ENST00000397843.2	+	22	2083	c.1917A>G	c.(1915-1917)gaA>gaG	p.E639E	ARHGEF12_ENST00000532993.1_Silent_p.E536E|ARHGEF12_ENST00000356641.3_Silent_p.E620E	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	639					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TGAGTCCTGAACCTCAGGACT	0.507			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(1915-1917)gaA>gaG		Rho guanine nucleotide exchange factor (GEF) 12							72.0	74.0	73.0					11																	120322294		1968	4160	6128	SO:0001819	synonymous_variant	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120322294A>G	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1917A>G	11.37:g.120322294A>G						ARHGEF12_ENST00000356641.3_Silent_p.E620E|ARHGEF12_ENST00000532993.1_Silent_p.E536E	p.E639E	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	22	2083	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	639					O15086|Q6P526	Silent	SNP	ENST00000397843.2	37	c.1917A>G	CCDS41727.1																																																																																				0.507	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		7	46	0	0	0	1	0	7	46				
ANAPC2	29882	broad.mit.edu	37	9	140082436	140082436	+	Silent	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:140082436C>T	ENST00000323927.2	-	2	241	c.237G>A	c.(235-237)ctG>ctA	p.L79L	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	79					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GATCGTTCTGCAGCACCTCCA	0.612																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(235-237)ctG>ctA		anaphase promoting complex subunit 2							73.0	78.0	76.0					9																	140082436		2203	4299	6502	SO:0001819	synonymous_variant	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140082436C>T	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.237G>A	9.37:g.140082436C>T							p.L79L	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	2	241	-	all_cancers(76;0.0926)		79					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Silent	SNP	ENST00000323927.2	37	c.237G>A	CCDS7033.1																																																																																				0.612	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		10	47	0	0	0	1	0	10	47				
CRYGD	1421	broad.mit.edu	37	2	208986503	208986503	+	Missense_Mutation	SNP	C	C	T	rs144372987		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:208986503C>T	ENST00000264376.4	-	3	446	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	140	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				cellular response to reactive oxygen species (GO:0034614)|lens development in camera-type eye (GO:0002088)|lens fiber cell differentiation (GO:0070306)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CTGCCGTCCTCGGTAGTTGGA	0.587																																						ENST00000264376.4																			0				breast(1)|endometrium(1)|lung(3)	5						c.(418-420)cGa>cAa		crystallin, gamma D		C	GLN/ARG	0,4406		0,0,2203	90.0	84.0	86.0		419	3.3	0.1	2	dbSNP_134	86	2,8598	2.2+/-6.3	0,2,4298	no	missense	CRYGD	NM_006891.3	43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	140/175	208986503	2,13004	2203	4300	6503	SO:0001583	missense	1421				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens	g.chr2:208986503C>T		CCDS2378.1	2q33.3	2013-02-14			ENSG00000118231	ENSG00000118231			2411	protein-coding gene	gene with protein product		123690		CRYG4			Standard	NM_006891		Approved		uc002vcn.4	P07320	OTTHUMG00000132944	ENST00000264376.4:c.419G>A	2.37:g.208986503C>T	ENSP00000264376:p.Arg140Gln						p.R140Q	NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)	3	446	-			140			Beta/gamma crystallin 'Greek key' 4.		Q17RF7|Q53R51|Q99681	Missense_Mutation	SNP	ENST00000264376.4	37	c.419G>A	CCDS2378.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207507	0.58343	0.0	2.33E-4	ENSG00000118231	ENST00000264376	T	0.76578	-1.03	4.25	3.34	0.38264	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.055265	0.64402	D	0.000003	T	0.76983	0.4064	M	0.82132	2.575	0.41448	D	0.987968	B	0.22683	0.073	B	0.26969	0.075	T	0.75578	-0.3269	10	0.66056	D	0.02	.	8.9704	0.35903	0.0:0.8845:0.0:0.1155	.	140	P07320	CRGD_HUMAN	Q	140	ENSP00000264376:R140Q	ENSP00000264376:R140Q	R	-	2	0	CRYGD	208694748	0.001000	0.12720	0.108000	0.21378	0.972000	0.66771	1.185000	0.32065	0.947000	0.37659	0.555000	0.69702	CGA		0.587	CRYGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256476.2	NM_006891		18	111	0	0	0	1	0	18	111				
ATP1A1	476	broad.mit.edu	37	1	116943599	116943599	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:116943599G>A	ENST00000295598.5	+	19	2941	c.2689G>A	c.(2689-2691)Gat>Aat	p.D897N	ATP1A1_ENST00000537345.1_Missense_Mutation_p.D897N|ATP1A1_ENST00000369496.4_Missense_Mutation_p.D866N	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	897					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	CTGGATCAACGATGTGGAAGA	0.572																																						ENST00000537345.1																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(2689-2691)Gat>Aat		ATPase, Na+/K+ transporting, alpha 1 polypeptide	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						65.0	64.0	64.0					1																	116943599		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116943599G>A	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.2689G>A	1.37:g.116943599G>A	ENSP00000295598:p.Asp897Asn					ATP1A1_ENST00000369496.4_Missense_Mutation_p.D866N|ATP1A1_ENST00000295598.5_Missense_Mutation_p.D897N	p.D897N	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	19	3052	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	897					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.2689G>A	CCDS887.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451942	0.84209	.	.	ENSG00000163399	ENST00000295598;ENST00000445896;ENST00000537345;ENST00000369496;ENST00000440951	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.1	5.1	0.69264	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.044974	0.85682	D	0.000000	D	0.85553	0.5723	M	0.73372	2.23	0.80722	D	1	B;B	0.15473	0.011;0.013	B;B	0.15870	0.006;0.014	T	0.82843	-0.0257	10	0.54805	T	0.06	.	18.7012	0.91620	0.0:0.0:1.0:0.0	.	897;897	F5H3A1;P05023	.;AT1A1_HUMAN	N	897;66;897;866;64	ENSP00000295598:D897N;ENSP00000445306:D897N;ENSP00000358508:D866N;ENSP00000396236:D64N	ENSP00000295598:D897N	D	+	1	0	ATP1A1	116745122	1.000000	0.71417	0.935000	0.37517	0.966000	0.64601	9.657000	0.98554	2.640000	0.89533	0.591000	0.81541	GAT		0.572	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		9	50	0	0	0	1	0	9	50				
VANGL2	57216	broad.mit.edu	37	1	160394931	160394931	+	Silent	SNP	G	G	A	rs146767141		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:160394931G>A	ENST00000368061.2	+	8	1803	c.1329G>A	c.(1327-1329)gcG>gcA	p.A443A		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	443					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)		p.A443A(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATACTTGGCGGCTGGACCTA	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15617	0.0		0.0	False		,,,				2504	0.0					ENST00000368061.2																			1	Substitution - coding silent(1)	p.A443A(1)	endometrium(1)	biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37						c.(1327-1329)gcG>gcA		VANGL planar cell polarity protein 2		G		2,4404	4.2+/-10.8	0,2,2201	81.0	80.0	81.0		1329	-10.1	0.2	1	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous	VANGL2	NM_020335.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		443/522	160394931	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160394931G>A	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1329G>A	1.37:g.160394931G>A							p.A443A	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		8	1803	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		443					D3DVE9|Q5T212	Silent	SNP	ENST00000368061.2	37	c.1329G>A	CCDS30915.1																																																																																				0.557	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		28	36	0	0	0	1	0	28	36				
LRRC55	219527	broad.mit.edu	37	11	56954774	56954774	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:56954774C>G	ENST00000497933.1	+	2	993	c.846C>G	c.(844-846)ttC>ttG	p.F282L		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	252					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCCCGCTCTTCTCACTCACTG	0.587																																						ENST00000497933.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(844-846)ttC>ttG		leucine rich repeat containing 55							129.0	98.0	108.0					11																	56954774		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56954774C>G		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.846C>G	11.37:g.56954774C>G	ENSP00000419542:p.Phe282Leu						p.F282L	NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN			2	993	+			252					A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.846C>G	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604407	0.28623	.	.	ENSG00000183908	ENST00000497933	T	0.20881	2.04	5.74	4.82	0.62117	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.64402	D	0.000007	T	0.07052	0.0179	N	0.02286	-0.61	0.32389	N	0.553545	B	0.11235	0.004	B	0.04013	0.001	T	0.21518	-1.0243	10	0.07990	T	0.79	.	8.2223	0.31549	0.0:0.8174:0.0:0.1826	.	252	Q6ZSA7	LRC55_HUMAN	L	282	ENSP00000419542:F282L	ENSP00000419542:F282L	F	+	3	2	LRRC55	56711350	0.996000	0.38824	1.000000	0.80357	0.970000	0.65996	0.283000	0.18846	1.401000	0.46761	0.563000	0.77884	TTC		0.587	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		19	174	0	0	0	1	0	19	174				
PKHD1L1	93035	broad.mit.edu	37	8	110530664	110530664	+	Silent	SNP	G	G	A	rs369362762		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr8:110530664G>A	ENST00000378402.5	+	73	12062	c.11958G>A	c.(11956-11958)aaG>aaA	p.K3986K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3986					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGAGGAGGAAGAGATCCATGG	0.398										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(11956-11958)aaG>aaA		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1		G		1,3701		0,1,1850	70.0	68.0	68.0		11958	5.1	1.0	8		68	0,8160		0,0,4080	no	coding-synonymous	PKHD1L1	NM_177531.4		0,1,5930	AA,AG,GG		0.0,0.027,0.0084		3986/4244	110530664	1,11861	1851	4080	5931	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110530664G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11958G>A	8.37:g.110530664G>A		HNSCC(38;0.096)					p.K3986K	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		73	12062	+			3986					Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.11958G>A	CCDS47911.1																																																																																				0.398	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		17	77	0	0	0	1	0	17	77				
FAM47A	158724	broad.mit.edu	37	X	34149447	34149447	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:34149447G>T	ENST00000346193.3	-	1	1000	c.949C>A	c.(949-951)Cct>Act	p.P317T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	317										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTCTTGGGAGGCTCCTGGCGG	0.597																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(949-951)Cct>Act		family with sequence similarity 47, member A							19.0	22.0	21.0					X																	34149447		2191	4292	6483	SO:0001583	missense	158724							g.chrX:34149447G>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.949C>A	X.37:g.34149447G>T	ENSP00000345029:p.Pro317Thr						p.P317T	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	1000	-			317					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.949C>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	g	12.22	1.873927	0.33069	.	.	ENSG00000185448	ENST00000346193	T	0.14266	2.52	0.226	0.226	0.15353	.	.	.	.	.	T	0.28928	0.0718	M	0.65975	2.015	0.24096	N	0.995899	D	0.89917	1.0	D	0.87578	0.998	T	0.11817	-1.0572	8	0.31617	T	0.26	.	.	.	.	.	317	Q5JRC9	FA47A_HUMAN	T	317	ENSP00000345029:P317T	ENSP00000345029:P317T	P	-	1	0	FAM47A	34059368	0.984000	0.35163	0.014000	0.15608	0.015000	0.08874	0.866000	0.27954	0.283000	0.22279	0.287000	0.19450	CCT		0.597	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		7	35	1	0	0.00198382	1	0.00201893	7	35				
SMU1	55234	broad.mit.edu	37	9	33056956	33056956	+	Nonsense_Mutation	SNP	T	T	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:33056956T>A	ENST00000397149.3	-	8	924	c.874A>T	c.(874-876)Aag>Tag	p.K292*	SMU1_ENST00000536631.1_Nonsense_Mutation_p.K131*	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	292						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CTCTGAATCTTCCACACCTTT	0.383																																						ENST00000397149.3																			0				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(874-876)Aag>Tag		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)							95.0	99.0	98.0					9																	33056956		2203	4300	6503	SO:0001587	stop_gained	55234					cytoplasm|nucleus		g.chr9:33056956T>A	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.874A>T	9.37:g.33056956T>A	ENSP00000380336:p.Lys292*					SMU1_ENST00000536631.1_Nonsense_Mutation_p.K131*	p.K292*	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	8	924	-			292					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Nonsense_Mutation	SNP	ENST00000397149.3	37	c.874A>T	CCDS6534.1	.	.	.	.	.	.	.	.	.	.	T	36	5.764819	0.96906	.	.	ENSG00000122692	ENST00000397149;ENST00000536631	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-25.6262	12.7108	0.57088	0.0:0.0:0.0:1.0	.	.	.	.	X	292;131	.	ENSP00000380336:K292X	K	-	1	0	SMU1	33046956	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.929000	0.70096	1.937000	0.56155	0.528000	0.53228	AAG		0.383	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		82	165	0	0	0	1	0	82	165				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	66	0	0	0	1	0	4	66				
KBTBD2	25948	broad.mit.edu	37	7	32909721	32909721	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:32909721G>A	ENST00000304056.4	-	4	1807	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	KBTBD2_ENST00000485611.1_5'Flank|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	370										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			GGCTTTATGCGGACAAAAAGC	0.423																																						ENST00000304056.4																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17						c.(1108-1110)Cgc>Tgc		kelch repeat and BTB (POZ) domain containing 2							149.0	137.0	141.0					7																	32909721		2203	4300	6503	SO:0001583	missense	25948							g.chr7:32909721G>A	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"""BTB/POZ domain containing"""	21751	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 1"""	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1108C>T	7.37:g.32909721G>A	ENSP00000302586:p.Arg370Cys					AVL9_ENST00000404479.1_Intron	p.R370C	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		4	1807	-			370					A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	c.1108C>T	CCDS34614.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.72|17.72	3.458898|3.458898	0.63401|0.63401	.|.	.|.	ENSG00000170852|ENSG00000170852	ENST00000537125|ENST00000304056	.|T	.|0.79554	.|-1.28	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Kelch-type beta propeller (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92789|0.92789	0.7707|0.7707	M|M	0.93854|0.93854	3.465|3.465	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79784	.|0.993	D|D	0.93834|0.93834	0.7130|0.7130	6|10	0.09590|0.87932	T|D	0.72|0	.|.	20.0752|20.0752	0.97739|0.97739	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|370	.|Q8IY47	.|KBTB2_HUMAN	L|C	173|370	.|ENSP00000302586:R370C	ENSP00000440299:P173L|ENSP00000302586:R370C	P|R	-|-	2|1	0|0	KBTBD2|KBTBD2	32876246|32876246	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.954000|0.954000	0.61252|0.61252	9.420000|9.420000	0.97426|0.97426	2.826000|2.826000	0.97356|0.97356	0.491000|0.491000	0.48974|0.48974	CCG|CGC		0.423	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224		16	165	0	0	0	1	0	16	165				
LCP1	3936	broad.mit.edu	37	13	46701814	46701814	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr13:46701814G>A	ENST00000398576.2	-	19	2184	c.1796C>T	c.(1795-1797)gCc>gTc	p.A599V	LCP1_ENST00000323076.2_Missense_Mutation_p.A599V|LCP1_ENST00000435666.2_Missense_Mutation_p.A168V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	599	Actin-binding 2.|CH 4. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TTCTGGCAGGGCATACACTCT	0.488			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1795-1797)gCc>gTc		lymphocyte cytosolic protein 1 (L-plastin)							194.0	180.0	185.0					13																	46701814		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46701814G>A	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1796C>T	13.37:g.46701814G>A	ENSP00000381581:p.Ala599Val					LCP1_ENST00000323076.2_Missense_Mutation_p.A599V|LCP1_ENST00000435666.2_Missense_Mutation_p.A168V	p.A599V			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	19	2184	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	599			Actin-binding 2.|CH 4.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.1796C>T	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	35	5.569044	0.96540	.	.	ENSG00000136167	ENST00000323076;ENST00000398576;ENST00000435666	D;D;D	0.95069	-3.6;-3.6;-3.6	5.72	5.72	0.89469	Calponin homology domain (5);	0.044394	0.85682	D	0.000000	D	0.96324	0.8801	M	0.72624	2.21	0.80722	D	1	P;D	0.89917	0.942;1.0	P;D	0.91635	0.859;0.999	D	0.92803	0.6258	10	0.02654	T	1	-16.4361	19.2318	0.93843	0.0:0.0:1.0:0.0	.	168;599	B4DUA0;P13796	.;PLSL_HUMAN	V	599;599;168	ENSP00000315757:A599V;ENSP00000381581:A599V;ENSP00000405134:A168V	ENSP00000315757:A599V	A	-	2	0	LCP1	45599815	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.813000	0.99286	2.865000	0.98341	0.655000	0.94253	GCC		0.488	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		5	227	0	0	0	1	0	5	227				
PTGES3L	100885848	broad.mit.edu	37	17	41131263	41131263	+	Intron	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:41131263G>A	ENST00000453594.1	-	3	664				RP11-376M2.2_ENST00000587526.1_RNA|RUNDC1_ENST00000361677.1_5'Flank|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.S53F|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.S53F|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.S114F|PTGES3L_ENST00000409446.3_Missense_Mutation_p.S76F|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.S114F	NM_001142653.1|NM_001261430.1	NP_001136125.1|NP_001248359.1	E9PB15	PTG3L_HUMAN	prostaglandin E synthase 3 (cytosolic)-like																		AATAGAGCGGGAAGAGCGCTT	0.522																																						ENST00000421990.2																			0											c.(340-342)tCc>tTc									145.0	156.0	152.0					17																	41131263		2203	4300	6503	SO:0001627	intron_variant	100885850							g.chr17:41131263G>A		CCDS45692.1	17q21.31	2012-10-05				ENSG00000267060			43943	protein-coding gene	gene with protein product							Standard	NM_001142653		Approved			E9PB15	OTTHUMG00000180906	ENST00000453594.1:c.318+131C>T	17.37:g.41131263G>A						PTGES3L_ENST00000409446.3_Missense_Mutation_p.S76F|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.S53F|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.S53F|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.S114F|PTGES3L_ENST00000453594.1_Intron	p.S114F	NM_001136042.2	NP_001129514.2					4	686	-									Missense_Mutation	SNP	ENST00000453594.1	37	c.341C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.47|13.47	2.247695|2.247695	0.39697|0.39697	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000424284|ENST00000360221;ENST00000409399;ENST00000421990;ENST00000409103;ENST00000454303;ENST00000409446	.|T;T;T;T;T;T	.|0.34472	.|1.36;1.36;1.36;1.36;1.36;1.36	5.08|5.08	4.09|4.09	0.47781|0.47781	.|.	.|0.411363	.|0.26895	.|N	.|0.021949	T|T	0.41305|0.41305	0.1153|0.1153	L|L	0.49126|0.49126	1.545|1.545	.|0.23036	.|N	.|0.998396	.|D;P;P;P	.|0.54964	.|0.969;0.937;0.56;0.822	.|P;P;P;P	.|0.54100	.|0.742;0.739;0.549;0.671	T|T	0.57112|0.57112	-0.7867|-0.7867	4|9	.|0.72032	.|D	.|0.01	0.1409|0.1409	6.315|6.315	0.21186|0.21186	0.0:0.6417:0.1984:0.1599|0.0:0.6417:0.1984:0.1599	.|.	.|76;114;53;71	.|B9A003;B4DI73;C9J5N1;B3KSP9	.|.;.;.;.	S|F	43|53;114;114;53;53;76	.|ENSP00000353355:S53F;ENSP00000386621:S114F;ENSP00000409924:S114F;ENSP00000386254:S53F;ENSP00000407951:S53F;ENSP00000386902:S76F	.|ENSP00000353355:S53F	P|S	-|-	1|2	0|0	AARSD1|AARSD1	38384789|38384789	0.045000|0.045000	0.20229|0.20229	0.818000|0.818000	0.32626|0.32626	0.984000|0.984000	0.73092|0.73092	0.824000|0.824000	0.27379|0.27379	1.315000|1.315000	0.45114|0.45114	-0.228000|-0.228000	0.12330|0.12330	CCC|TCC		0.522	PTGES3L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001142653		37	198	0	0	0	1	0	37	198				
ZNF687	57592	broad.mit.edu	37	1	151259741	151259741	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:151259741C>A	ENST00000368879.2	+	2	1072	c.974C>A	c.(973-975)tCt>tAt	p.S325Y		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	325	Poly-Ser.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCCAGCTCCTCTAGGCCTCTT	0.577																																						ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(973-975)tCt>tAt		zinc finger protein 687							56.0	60.0	58.0					1																	151259741		2203	4300	6503	SO:0001583	missense	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151259741C>A		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.974C>A	1.37:g.151259741C>A	ENSP00000357874:p.Ser325Tyr						p.S325Y	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	1072	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		325			Poly-Ser.		D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37	c.974C>A		.	.	.	.	.	.	.	.	.	.	C	17.11	3.304540	0.60305	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.01099	5.34;5.34;5.67	5.02	4.08	0.47627	.	0.000000	0.35067	N	0.003472	T	0.01189	0.0039	L	0.36672	1.1	0.40862	D	0.983848	D;P;D	0.54964	0.969;0.826;0.969	P;B;P	0.55508	0.777;0.347;0.777	T	0.75218	-0.3395	9	.	.	.	.	13.5289	0.61611	0.1572:0.8428:0.0:0.0	.	325;325;325	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	Y	325	ENSP00000336620:S325Y;ENSP00000319829:S325Y;ENSP00000357874:S325Y	.	S	+	2	0	ZNF687	149526365	1.000000	0.71417	0.877000	0.34402	0.997000	0.91878	6.939000	0.75911	1.288000	0.44600	0.561000	0.74099	TCT		0.577	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		8	51	1	0	0.00307968	1	0.0031158	8	51				
LRRK2	120892	broad.mit.edu	37	12	40758833	40758833	+	Silent	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:40758833C>T	ENST00000298910.7	+	49	7429	c.7371C>T	c.(7369-7371)gtC>gtT	p.V2457V		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2457					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CGGTCAGAGTCATGATGACAG	0.348																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(7369-7371)gtC>gtT		leucine-rich repeat kinase 2							80.0	75.0	77.0					12																	40758833		2203	4299	6502	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40758833C>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.7371C>T	12.37:g.40758833C>T							p.V2457V	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			49	7429	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	2457					A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.7371C>T	CCDS31774.1																																																																																				0.348	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		18	78	0	0	0	1	0	18	78				
CT47B1	643311	broad.mit.edu	37	X	120009411	120009411	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:120009411G>A	ENST00000371311.3	-	1	368	c.114C>T	c.(112-114)tcC>tcT	p.S38S		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	38										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TGTCGGGGCCGGAGTCGCCGC	0.741																																						ENST00000371311.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						c.(112-114)tcC>tcT		cancer/testis antigen family 47, member B1							3.0	5.0	4.0					X																	120009411		585	1407	1992	SO:0001819	synonymous_variant	643311							g.chrX:120009411G>A		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.114C>T	X.37:g.120009411G>A							p.S38S	NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN			1	368	-			38					A6NM97	Silent	SNP	ENST00000371311.3	37	c.114C>T	CCDS48161.1																																																																																				0.741	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		17	85	0	0	0	1	0	17	85				
GRIN2C	2905	broad.mit.edu	37	17	72850832	72850832	+	Splice_Site	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:72850832C>T	ENST00000293190.5	-	2	546		c.e2+1		GRIN2C_ENST00000347612.4_Splice_Site|GRIN2C_ENST00000578159.1_Intron	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C						directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGACATGCACCTTGGGGGTG	0.622																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.e2+1		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						73.0	69.0	71.0					17																	72850832		2203	4300	6503	SO:0001630	splice_region_variant	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72850832C>T		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.399+1G>A	17.37:g.72850832C>T						GRIN2C_ENST00000578159.1_Intron|GRIN2C_ENST00000347612.4_Splice_Site		NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			2	546	-	all_lung(278;0.172)|Lung NSC(278;0.207)							B2RTT1	Splice_Site	SNP	ENST00000293190.5	37		CCDS32724.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.973129	0.53614	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6869	0.88258	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRIN2C	70362427	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	7.578000	0.82498	2.404000	0.81709	0.650000	0.86243	.		0.622	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1		Intron	4	45	0	0	0	1	0	4	45				
SLC10A5	347051	broad.mit.edu	37	8	82606635	82606635	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr8:82606635G>A	ENST00000518568.1	-	1	1774	c.573C>T	c.(571-573)tgC>tgT	p.C191C		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	191						integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AAAGAAACCCGCAAAATGGCA	0.463																																						ENST00000518568.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						c.(571-573)tgC>tgT		solute carrier family 10, member 5							60.0	67.0	64.0					8																	82606635		2203	4300	6503	SO:0001819	synonymous_variant	347051					integral to membrane	bile acid:sodium symporter activity	g.chr8:82606635G>A		CCDS34915.1	8q21.13	2013-07-18	2013-07-18		ENSG00000253598	ENSG00000253598		"""Solute carriers"""	22981	protein-coding gene	gene with protein product							Standard	NM_001010893		Approved		uc011lfs.2	Q5PT55	OTTHUMG00000164683	ENST00000518568.1:c.573C>T	8.37:g.82606635G>A							p.C191C	NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN			1	1774	-			191					B2RN26	Silent	SNP	ENST00000518568.1	37	c.573C>T	CCDS34915.1																																																																																				0.463	SLC10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379736.1	XM_294493		4	125	0	0	0	1	0	4	125				
PLXDC2	84898	broad.mit.edu	37	10	20506361	20506361	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr10:20506361G>C	ENST00000377252.4	+	11	1970	c.1129G>C	c.(1129-1131)Gag>Cag	p.E377Q	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.E328Q	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	377					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CTAGTCAAAAGAGAAGATGTG	0.418																																						ENST00000377252.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						c.(1129-1131)Gag>Cag		plexin domain containing 2							61.0	58.0	59.0					10																	20506361		2203	4300	6503	SO:0001583	missense	84898					integral to membrane		g.chr10:20506361G>C	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.1129G>C	10.37:g.20506361G>C	ENSP00000366460:p.Glu377Gln					PLXDC2_ENST00000377242.3_Missense_Mutation_p.E328Q|PLXDC2_ENST00000377238.2_3'UTR	p.E377Q	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN			11	1970	+			377					Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	ENST00000377252.4	37	c.1129G>C	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319730	0.23994	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000377238;ENST00000536022	T;T	0.76578	-1.03;-1.03	5.55	4.62	0.57501	.	0.091007	0.64402	D	0.000001	T	0.65015	0.2651	L	0.36672	1.1	0.33289	D	0.563271	P;B	0.37864	0.61;0.393	B;B	0.32864	0.154;0.099	T	0.71220	-0.4657	10	0.22109	T	0.4	.	13.1063	0.59249	0.0:0.0:0.8405:0.1595	.	328;377	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	Q	377;328;240;363	ENSP00000366460:E377Q;ENSP00000366450:E328Q	ENSP00000366446:E240Q	E	+	1	0	PLXDC2	20546367	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	4.686000	0.61700	2.634000	0.89283	0.563000	0.77884	GAG		0.418	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812		8	45	0	0	0	1	0	8	45				
ANKHD1	54882	broad.mit.edu	37	5	139825539	139825539	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:139825539C>G	ENST00000360839.2	+	6	1280	c.1126C>G	c.(1126-1128)Cta>Gta	p.L376V	ANKHD1_ENST00000394723.3_Missense_Mutation_p.L376V|ANKHD1_ENST00000394722.3_Missense_Mutation_p.L365V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L376V|ANKHD1_ENST00000297183.6_Missense_Mutation_p.L376V	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	376						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAAGTGCTCTAACACTTGC	0.348																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(1126-1128)Cta>Gta		ankyrin repeat and KH domain containing 1							94.0	88.0	90.0					5																	139825539		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139825539C>G	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.1126C>G	5.37:g.139825539C>G	ENSP00000354085:p.Leu376Val					ANKHD1_ENST00000394722.3_Missense_Mutation_p.L365V|ANKHD1_ENST00000360839.2_Missense_Mutation_p.L376V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L376V|ANKHD1_ENST00000394723.3_Missense_Mutation_p.L376V	p.L376V	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	1250	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.1126C>G	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932579	0.92458	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000511151;ENST00000394722;ENST00000532219	D;D;T;T;T;T;D	0.87729	-2.29;-2.29;-0.89;-0.89;-1.29;-0.89;-2.29	5.44	5.44	0.79542	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.94624	0.8267	M	0.87381	2.88	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.997;1.0	D;D;D;D;D	0.91635	0.999;0.994;0.994;0.98;0.999	D	0.94992	0.8135	10	0.87932	D	0	.	19.6207	0.95654	0.0:1.0:0.0:0.0	.	376;376;376;365;376	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	V	376;390;376;376;376;376;362;365;376	ENSP00000354085:L376V;ENSP00000297183:L376V;ENSP00000394489:L376V;ENSP00000378212:L376V;ENSP00000421069:L362V;ENSP00000378211:L365V;ENSP00000432016:L376V	ENSP00000432016:L376V	L	+	1	2	ANKHD1-EIF4EBP3;ANKHD1	139805723	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.027000	0.70881	2.707000	0.92482	0.563000	0.77884	CTA		0.348	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		7	51	0	0	0	1	0	7	51				
SPEG	10290	broad.mit.edu	37	2	220349284	220349284	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:220349284G>A	ENST00000312358.7	+	30	7231	c.7099G>A	c.(7099-7101)Gag>Aag	p.E2367K	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2367	Arg-rich.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCGTGGGGCCGAGGAGGAGGA	0.731																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(7099-7101)Gag>Aag		SPEG complex locus							5.0	6.0	6.0					2																	220349284		1618	3649	5267	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220349284G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.7099G>A	2.37:g.220349284G>A	ENSP00000311684:p.Glu2367Lys					AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	p.E2367K	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	30	7231	+		Renal(207;0.0183)	2367			Arg-rich.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.7099G>A	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	G	6.535	0.466878	0.12402	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.64618	-0.11	3.57	0.405	0.16361	.	0.903192	0.08938	U	0.872017	T	0.35422	0.0931	N	0.12182	0.205	0.09310	N	0.999997	B	0.20261	0.043	B	0.14023	0.01	T	0.19192	-1.0313	10	0.10377	T	0.69	.	3.9237	0.09254	0.09:0.3629:0.3972:0.1498	.	2367	Q15772	SPEG_HUMAN	K	2367	ENSP00000311684:E2367K	ENSP00000265327:E2367K	E	+	1	0	SPEG	220057528	0.026000	0.19158	0.483000	0.27378	0.615000	0.37417	0.126000	0.15769	-0.185000	0.10550	-0.379000	0.06801	GAG		0.731	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		5	27	0	0	0	1	0	5	27				
FAM118A	55007	broad.mit.edu	37	22	45732284	45732284	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr22:45732284C>G	ENST00000216214.3	+	9	1880	c.1046C>G	c.(1045-1047)tCa>tGa	p.S349*	FAM118A_ENST00000441876.2_Nonsense_Mutation_p.S349*|FAM118A_ENST00000405548.3_Nonsense_Mutation_p.S167*	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	349						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CGCACACAATCAGATACTGGT	0.448																																						ENST00000216214.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(1045-1047)tCa>tGa		family with sequence similarity 118, member A							90.0	86.0	87.0					22																	45732284		2203	4300	6503	SO:0001587	stop_gained	55007					integral to membrane		g.chr22:45732284C>G	BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 8"""	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.1046C>G	22.37:g.45732284C>G	ENSP00000216214:p.Ser349*					FAM118A_ENST00000405548.3_Nonsense_Mutation_p.S167*|FAM118A_ENST00000441876.2_Nonsense_Mutation_p.S349*	p.S349*	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	9	1880	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	349					B3KWG4|B4DY02|Q5TII5|Q96CY3	Nonsense_Mutation	SNP	ENST00000216214.3	37	c.1046C>G	CCDS14065.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004972	0.93287	.	.	ENSG00000100376	ENST00000216214;ENST00000441876;ENST00000405548	.	.	.	5.84	4.83	0.62350	.	0.837109	0.10557	N	0.660751	.	.	.	.	.	.	0.22354	N	0.999175	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-10.7893	9.6773	0.40047	0.0:0.8512:0.0:0.1488	.	.	.	.	X	349;349;167	.	ENSP00000216214:S349X	S	+	2	0	FAM118A	44110948	0.000000	0.05858	0.014000	0.15608	0.035000	0.12851	0.917000	0.28665	2.760000	0.94817	0.655000	0.94253	TCA		0.448	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		5	61	0	0	0	1	0	5	61				
SOCS5	9655	broad.mit.edu	37	2	46986576	46986576	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:46986576T>G	ENST00000306503.5	+	2	1079	c.907T>G	c.(907-909)Tta>Gta	p.L303V	SOCS5_ENST00000394861.2_Missense_Mutation_p.L303V	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	303					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GGGACCAAAATTAGCTCCTGG	0.433																																						ENST00000306503.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(907-909)Tta>Gta		suppressor of cytokine signaling 5							48.0	50.0	50.0					2																	46986576		2203	4300	6503	SO:0001583	missense	9655				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46986576T>G	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.907T>G	2.37:g.46986576T>G	ENSP00000305133:p.Leu303Val					SOCS5_ENST00000394861.2_Missense_Mutation_p.L303V	p.L303V	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	1079	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	303					Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.907T>G	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.029166	0.35797	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.37752	1.18;1.18	5.43	4.24	0.50183	.	0.125717	0.53938	D	0.000056	T	0.30759	0.0775	L	0.50333	1.59	0.44330	D	0.99721	B	0.25772	0.134	B	0.23852	0.049	T	0.07195	-1.0785	10	0.35671	T	0.21	-12.8838	9.2686	0.37657	0.0:0.1482:0.0:0.8518	.	303	O75159	SOCS5_HUMAN	V	303	ENSP00000305133:L303V;ENSP00000378330:L303V	ENSP00000305133:L303V	L	+	1	2	SOCS5	46840080	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.001000	0.29783	1.043000	0.40175	0.533000	0.62120	TTA		0.433	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			45	51	0	0	0	1	0	45	51				
ZNF639	51193	broad.mit.edu	37	3	179051945	179051945	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr3:179051945C>G	ENST00000326361.3	+	7	1638	c.1193C>G	c.(1192-1194)aCa>aGa	p.T398R	ZNF639_ENST00000496856.1_Missense_Mutation_p.T398R|ZNF639_ENST00000484866.1_Missense_Mutation_p.T398R	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	398	Interaction with CTNNA2.				negative regulation by host of viral transcription (GO:0043922)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|transcription, DNA-templated (GO:0006351)|viral entry into host cell (GO:0046718)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein self-association (GO:0043621)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ATTGAACATACAAAAATTTTT	0.323																																						ENST00000326361.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16						c.(1192-1194)aCa>aGa		zinc finger protein 639							115.0	118.0	117.0					3																	179051945		2203	4300	6503	SO:0001583	missense	51193				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:179051945C>G	BC020500	CCDS3227.1	3q27.1	2010-03-26			ENSG00000121864	ENSG00000121864		"""Zinc fingers, C2H2-type"""	30950	protein-coding gene	gene with protein product	"""zinc finger amplified in esophageal squamous cell carcinomas 1"""					14522885	Standard	NM_016331		Approved	ANC-2H01, ZASC1	uc003fjr.1	Q9UID6	OTTHUMG00000157439	ENST00000326361.3:c.1193C>G	3.37:g.179051945C>G	ENSP00000325634:p.Thr398Arg					ZNF639_ENST00000484866.1_Missense_Mutation_p.T398R|ZNF639_ENST00000496856.1_Missense_Mutation_p.T398R	p.T398R	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)		7	1638	+	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		398			Interaction with CTNNA2.		A9X3Z9|D3DNR3	Missense_Mutation	SNP	ENST00000326361.3	37	c.1193C>G	CCDS3227.1	.	.	.	.	.	.	.	.	.	.	C	18.92	3.725635	0.68959	.	.	ENSG00000121864	ENST00000496856;ENST00000326361;ENST00000484866	T;T;T	0.25749	1.78;1.78;1.78	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.54159	0.1841	M	0.72353	2.195	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.52238	-0.8602	10	0.72032	D	0.01	.	20.3681	0.98887	0.0:1.0:0.0:0.0	.	398	Q9UID6	ZN639_HUMAN	R	398	ENSP00000417740:T398R;ENSP00000325634:T398R;ENSP00000418766:T398R	ENSP00000325634:T398R	T	+	2	0	ZNF639	180534639	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	3.830000	0.55768	2.890000	0.99128	0.655000	0.94253	ACA		0.323	ZNF639-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348855.1	NM_016331		33	181	0	0	0	1	0	33	181				
UGT3A1	133688	broad.mit.edu	37	5	35965663	35965663	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:35965663T>C	ENST00000274278.3	-	4	1025	c.668A>G	c.(667-669)aAc>aGc	p.N223S	UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.N189S|UGT3A1_ENST00000333811.4_Missense_Mutation_p.N169S|UGT3A1_ENST00000503189.1_Missense_Mutation_p.N223S	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	223						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTGATGGTGTTGTCAAATGT	0.438																																						ENST00000274278.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46						c.(667-669)aAc>aGc		UDP glycosyltransferase 3 family, polypeptide A1							121.0	124.0	123.0					5																	35965663		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35965663T>C		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.668A>G	5.37:g.35965663T>C	ENSP00000274278:p.Asn223Ser					UGT3A1_ENST00000503189.1_Missense_Mutation_p.N223S|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000507113.1_Missense_Mutation_p.N189S|UGT3A1_ENST00000333811.4_Missense_Mutation_p.N169S	p.N223S	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	1025	-	all_lung(31;0.000197)		223					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.668A>G	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	T	3.253	-0.152758	0.06585	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	3.05	1.86	0.25419	.	0.627326	0.15243	N	0.272781	T	0.33265	0.0857	N	0.25031	0.7	0.09310	N	1	B;B;B;B	0.18310	0.027;0.003;0.02;0.005	B;B;B;B	0.26310	0.068;0.017;0.01;0.038	T	0.24119	-1.0169	10	0.15952	T	0.53	.	5.9795	0.19399	0.0:0.2634:0.0:0.7366	.	189;223;169;223	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	S	223;223;189;169	ENSP00000274278:N223S;ENSP00000427079:N223S;ENSP00000426100:N189S;ENSP00000328033:N169S	ENSP00000274278:N223S	N	-	2	0	UGT3A1	36001420	0.000000	0.05858	0.826000	0.32828	0.728000	0.41692	-0.191000	0.09601	0.350000	0.24002	0.260000	0.18958	AAC		0.438	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		49	89	0	0	0	1	0	49	89				
ATP2C1	27032	broad.mit.edu	37	3	130699488	130699488	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr3:130699488A>G	ENST00000510168.1	+	20	2354	c.1804A>G	c.(1804-1806)Atg>Gtg	p.M602V	ATP2C1_ENST00000393221.4_Missense_Mutation_p.M636V|ATP2C1_ENST00000504381.1_Missense_Mutation_p.M547V|ATP2C1_ENST00000428331.2_Missense_Mutation_p.M602V|ATP2C1_ENST00000505330.1_Missense_Mutation_p.M586V|ATP2C1_ENST00000533801.2_Missense_Mutation_p.M597V|ATP2C1_ENST00000508532.1_Missense_Mutation_p.M602V|ATP2C1_ENST00000328560.8_Missense_Mutation_p.M602V|ATP2C1_ENST00000359644.3_Missense_Mutation_p.M602V|ATP2C1_ENST00000422190.2_Missense_Mutation_p.M602V|ATP2C1_ENST00000507488.2_Missense_Mutation_p.M586V|ATP2C1_ENST00000504948.1_Missense_Mutation_p.M586V|ATP2C1_ENST00000513801.1_Missense_Mutation_p.M586V			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	602					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AATAGATGCAATGGATGTTCA	0.383									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(1804-1806)Atg>Gtg		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						123.0	118.0	120.0					3																	130699488		2203	4300	6503	SO:0001583	missense	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130699488A>G	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1804A>G	3.37:g.130699488A>G	ENSP00000427461:p.Met602Val					ATP2C1_ENST00000359644.3_Missense_Mutation_p.M602V|ATP2C1_ENST00000328560.8_Missense_Mutation_p.M602V|ATP2C1_ENST00000428331.2_Missense_Mutation_p.M602V|ATP2C1_ENST00000513801.1_Missense_Mutation_p.M586V|ATP2C1_ENST00000508532.1_Missense_Mutation_p.M602V|ATP2C1_ENST00000505330.1_Missense_Mutation_p.M586V|ATP2C1_ENST00000393221.4_Missense_Mutation_p.M636V|ATP2C1_ENST00000422190.2_Missense_Mutation_p.M602V|ATP2C1_ENST00000504948.1_Missense_Mutation_p.M586V|ATP2C1_ENST00000507488.2_Missense_Mutation_p.M586V|ATP2C1_ENST00000504381.1_Missense_Mutation_p.M547V|ATP2C1_ENST00000533801.2_Missense_Mutation_p.M597V	p.M602V			P98194	AT2C1_HUMAN			20	2354	+			602					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.1804A>G	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	A	12.38	1.921392	0.33908	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	D;D;D;D;D;D;D;D;D;D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18;-4.18;-4.18;-4.18;-4.18;-4.18;-4.18;-4.18;-4.18;-4.18	5.73	5.73	0.89815	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.121540	0.64402	D	0.000001	D	0.95290	0.8472	M	0.83692	2.655	0.45161	D	0.998177	B;B;B;B;B;B;B	0.18461	0.02;0.011;0.011;0.004;0.028;0.004;0.005	B;B;B;B;B;B;B	0.21546	0.012;0.021;0.035;0.012;0.035;0.012;0.013	D	0.92222	0.5785	10	0.45353	T	0.12	.	7.6585	0.28389	0.689:0.1232:0.0:0.1877	.	636;597;636;602;636;602;602	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.;.;.;.;.;.;AT2C1_HUMAN	V	586;547;586;636;597;602;602;586;586;602;602;602;602;601	ENSP00000423774:M586V;ENSP00000425320:M547V;ENSP00000421326:M586V;ENSP00000376914:M636V;ENSP00000432956:M597V;ENSP00000427461:M602V;ENSP00000424783:M602V;ENSP00000423330:M586V;ENSP00000422872:M586V;ENSP00000329664:M602V;ENSP00000395809:M602V;ENSP00000352665:M602V;ENSP00000402677:M602V	ENSP00000329664:M602V	M	+	1	0	ATP2C1	132182178	0.904000	0.30761	0.972000	0.41901	0.988000	0.76386	1.812000	0.38952	2.187000	0.69744	0.402000	0.26972	ATG		0.383	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		63	57	0	0	0	1	0	63	57				
UBTF	7343	broad.mit.edu	37	17	42288700	42288700	+	Splice_Site	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:42288700C>G	ENST00000302904.4	-	11	1540		c.e11-1		UBTF_ENST00000533177.1_Splice_Site|UBTF_ENST00000436088.1_Splice_Site|UBTF_ENST00000526094.1_Splice_Site|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Splice_Site|UBTF_ENST00000343638.5_Splice_Site|UBTF_ENST00000393606.3_Splice_Site|UBTF_ENST00000527034.1_Splice_Site			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I						chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTTTCTTTTTCTGGGAAAGTG	0.582																																						ENST00000302904.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.e11-1		upstream binding transcription factor, RNA polymerase I							66.0	59.0	61.0					17																	42288700		2203	4300	6503	SO:0001630	splice_region_variant	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42288700C>G	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1048-1G>C	17.37:g.42288700C>G						UBTF_ENST00000343638.5_Splice_Site|UBTF_ENST00000526094.1_Splice_Site|UBTF_ENST00000436088.1_Splice_Site|UBTF_ENST00000393606.3_Splice_Site|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Splice_Site|UBTF_ENST00000527034.1_Splice_Site|UBTF_ENST00000529383.1_Splice_Site				P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	11	1540	-		Breast(137;0.00765)|Prostate(33;0.0181)						A8K6R8	Splice_Site	SNP	ENST00000302904.4	37		CCDS11480.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035085	0.54896	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	.	.	.	4.34	2.13	0.27403	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.186	0.54239	0.3042:0.6958:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBTF	39644226	1.000000	0.71417	0.993000	0.49108	0.934000	0.57294	5.954000	0.70298	1.143000	0.42306	0.491000	0.48974	.		0.582	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233	Intron	9	42	0	0	0	1	0	9	42				
NUAK1	9891	broad.mit.edu	37	12	106461045	106461045	+	Silent	SNP	C	C	T	rs138538652	byFrequency	TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:106461045C>T	ENST00000261402.2	-	7	2900	c.1521G>A	c.(1519-1521)ccG>ccA	p.P507P		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	507					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.P507P(4)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TGGCTGGGTCCGGGGGGCTGG	0.602													C|||	5	0.000998403	0.0038	0.0	5008	,	,		16360	0.0		0.0	False		,,,				2504	0.0					ENST00000261402.2																			4	Substitution - coding silent(4)	p.P507P(4)	lung(2)|prostate(2)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(1519-1521)ccG>ccA		NUAK family, SNF1-like kinase, 1		C		10,4396	15.5+/-35.6	0,10,2193	49.0	57.0	54.0		1521	-6.8	0.2	12	dbSNP_134	54	0,8600		0,0,4300	no	coding-synonymous	NUAK1	NM_014840.2		0,10,6493	TT,TC,CC		0.0,0.227,0.0769		507/662	106461045	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106461045C>T	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1521G>A	12.37:g.106461045C>T							p.P507P	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN			7	2900	-			507					A7MD39|Q96KA8	Silent	SNP	ENST00000261402.2	37	c.1521G>A	CCDS31892.1																																																																																				0.602	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		14	53	0	0	0	1	0	14	53				
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		1	Substitution - coding silent(1)	p.S188S(1)	large_intestine(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(562-564)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							77.0	84.0	82.0					9																	20414280		2203	4300	6503	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414280G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.564C>T	9.37:g.20414280G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000475957.1_5'UTR	p.S188S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	850	-			188			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.564C>T	CCDS6494.1																																																																																				0.502	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	285	0	0	0	1	0	6	285				
SLFN5	162394	broad.mit.edu	37	17	33591649	33591649	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:33591649T>C	ENST00000299977.4	+	4	1734	c.1586T>C	c.(1585-1587)cTg>cCg	p.L529P	SLFN5_ENST00000542451.1_Intron	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	529					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ATGGAAGCCCTGTTACAGTCC	0.428																																						ENST00000299977.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34						c.(1585-1587)cTg>cCg		schlafen family member 5							85.0	86.0	86.0					17																	33591649		2203	4300	6503	SO:0001583	missense	162394				cell differentiation		ATP binding	g.chr17:33591649T>C	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.1586T>C	17.37:g.33591649T>C	ENSP00000299977:p.Leu529Pro					SLFN5_ENST00000542451.1_Intron	p.L529P	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	4	1734	+		Ovarian(249;0.17)	529					Q08AF2|Q8WU54|Q96A82	Missense_Mutation	SNP	ENST00000299977.4	37	c.1586T>C	CCDS32619.1	.	.	.	.	.	.	.	.	.	.	t	13.22	2.171924	0.38315	.	.	ENSG00000166750	ENST00000299977	T	0.04406	3.63	3.18	3.18	0.36537	.	0.000000	0.31577	N	0.007411	T	0.15565	0.0375	M	0.71206	2.165	0.23089	N	0.998317	D	0.89917	1.0	D	0.68192	0.956	T	0.01287	-1.1395	10	0.87932	D	0	.	8.0008	0.30295	0.0:0.0:0.0:1.0	.	529	Q08AF3	SLFN5_HUMAN	P	529	ENSP00000299977:L529P	ENSP00000299977:L529P	L	+	2	0	SLFN5	30615762	0.279000	0.24239	0.002000	0.10522	0.718000	0.41266	4.988000	0.63863	1.442000	0.47568	0.533000	0.62120	CTG		0.428	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	NM_144975		87	61	0	0	0	1	0	87	61				
MADD	8567	broad.mit.edu	37	11	47330188	47330188	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:47330188G>C	ENST00000311027.5	+	25	3971	c.3806G>C	c.(3805-3807)gGc>gCc	p.G1269A	MADD_ENST00000405573.2_Missense_Mutation_p.G79A|MADD_ENST00000407859.3_Missense_Mutation_p.G1208A|MADD_ENST00000402799.1_Missense_Mutation_p.G1188A|MADD_ENST00000349238.3_Missense_Mutation_p.G1251A|MADD_ENST00000395336.3_Missense_Mutation_p.G1269A|MADD_ENST00000406482.1_Missense_Mutation_p.G1188A|MADD_ENST00000342922.4_Missense_Mutation_p.G1231A|MADD_ENST00000395344.3_Missense_Mutation_p.G1184A|MADD_ENST00000402192.2_Missense_Mutation_p.G1230A	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AAGCTGGCAGGCAGCCCCATT	0.507																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(3691-3693)gGc>gCc		MAP-kinase activating death domain							68.0	67.0	68.0					11																	47330188		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47330188G>C	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.3806G>C	11.37:g.47330188G>C	ENSP00000310933:p.Gly1269Ala					MADD_ENST00000349238.3_Missense_Mutation_p.G1251A|MADD_ENST00000311027.5_Missense_Mutation_p.G1269A|MADD_ENST00000406482.1_Missense_Mutation_p.G1188A|MADD_ENST00000405573.2_Missense_Mutation_p.G79A|MADD_ENST00000407859.3_Missense_Mutation_p.G1208A|MADD_ENST00000402799.1_Missense_Mutation_p.G1188A|MADD_ENST00000402192.2_Missense_Mutation_p.G1230A|MADD_ENST00000395336.3_Missense_Mutation_p.G1269A|MADD_ENST00000395344.3_Missense_Mutation_p.G1184A	p.G1231A	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	23	4049	+			1269			Ser-rich.			Missense_Mutation	SNP	ENST00000311027.5	37	c.3692G>C	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675117	0.47781	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.50813	3.35;3.21;3.19;3.33;3.29;3.2;3.21;3.28;3.34;0.73	5.46	5.46	0.80206	.	0.276946	0.41001	D	0.000973	T	0.34424	0.0897	N	0.12182	0.205	0.41912	D	0.990472	B;B;B;B;B;B;B;B;B;B;B	0.13594	0.008;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.003;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B	0.19148	0.024;0.001;0.002;0.009;0.005;0.005;0.003;0.007;0.011;0.002;0.005	T	0.14420	-1.0473	10	0.54805	T	0.06	-12.0255	17.4919	0.87707	0.0:0.0:1.0:0.0	.	79;1184;1184;1269;1188;1188;1188;1251;1208;1269;1231	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	A	1231;1188;1188;1188;1251;1269;1208;1184;1269;1230;79	ENSP00000343902:G1231A;ENSP00000385585:G1188A;ENSP00000384435:G1188A;ENSP00000304505:G1251A;ENSP00000310933:G1269A;ENSP00000384204:G1208A;ENSP00000378753:G1184A;ENSP00000378745:G1269A;ENSP00000384287:G1230A;ENSP00000384483:G79A	ENSP00000310933:G1269A	G	+	2	0	MADD	47286764	1.000000	0.71417	0.995000	0.50966	0.877000	0.50540	2.357000	0.44125	2.548000	0.85928	0.563000	0.77884	GGC		0.507	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			9	63	0	0	0	1	0	9	63				
JAK3	3718	broad.mit.edu	37	19	17951090	17951090	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:17951090G>A	ENST00000527670.1	-	8	1232	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	JAK3_ENST00000534444.1_Silent_p.L401L|JAK3_ENST00000458235.1_Silent_p.L401L|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	401	SH2; atypical.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GGCTGCGGCGGAGAACATAGG	0.597		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(1201-1203)ctC>ctT		Janus kinase 3							52.0	46.0	48.0					19																	17951090		2203	4300	6503	SO:0001819	synonymous_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17951090G>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1203C>T	19.37:g.17951090G>A						JAK3_ENST00000534444.1_Silent_p.L401L|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Silent_p.L401L	p.L401L	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			9	1302	-			401			SH2; atypical.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.1203C>T	CCDS12366.1																																																																																				0.597	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		4	40	0	0	0	1	0	4	40				
SLCO4A1	28231	broad.mit.edu	37	20	61299837	61299837	+	Missense_Mutation	SNP	G	G	A	rs368075379		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr20:61299837G>A	ENST00000370507.1	+	9	1916	c.1820G>A	c.(1819-1821)cGt>cAt	p.R607H	RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000433126.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA|SLCO4A1_ENST00000470412.1_3'UTR|SLCO4A1_ENST00000217159.1_Missense_Mutation_p.R607H			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	607					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AGATGTGTCCGTGACCCTCAG	0.547											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(168;741 2006 10379 40139 45334)	ENST00000217159.1																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21						c.(1819-1821)cGt>cAt		solute carrier organic anion transporter family, member 4A1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	197.0	172.0	181.0		1820	3.2	0.0	20		181	0,8600		0,0,4300	no	missense	SLCO4A1	NM_016354.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	607/723	61299837	1,13005	2203	4300	6503	SO:0001583	missense	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61299837G>A	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1820G>A	20.37:g.61299837G>A	ENSP00000359538:p.Arg607His		OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1052	SLCO4A1_ENST00000470412.1_3'UTR|SLCO4A1_ENST00000370507.1_Missense_Mutation_p.R607H	p.R607H	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		10	2025	+	Breast(26;3.65e-08)		607					Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	ENST00000370507.1	37	c.1820G>A	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	G	9.572	1.121189	0.20877	2.27E-4	0.0	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507;ENST00000342674;ENST00000451793	T;T;T	0.80909	0.3;0.3;-1.43	5.2	3.18	0.36537	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.653516	0.16112	N	0.229023	T	0.64091	0.2567	N	0.14661	0.345	0.20975	N	0.999815	B	0.12013	0.005	B	0.18561	0.022	T	0.54642	-0.8263	10	0.42905	T	0.14	.	7.8519	0.29459	0.1045:0.4185:0.477:0.0	.	607	Q96BD0	SO4A1_HUMAN	H	607;607;607;459;36	ENSP00000217159:R607H;ENSP00000359538:R607H;ENSP00000414855:R36H	ENSP00000217159:R607H	R	+	2	0	SLCO4A1	60770282	0.001000	0.12720	0.010000	0.14722	0.569000	0.35902	1.390000	0.34464	1.180000	0.42898	0.491000	0.48974	CGT		0.547	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354		4	165	0	0	0	1	0	4	165				
C7orf62	219557	broad.mit.edu	37	7	88424155	88424155	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:88424155T>A	ENST00000297203.2	-	2	287	c.102A>T	c.(100-102)caA>caT	p.Q34H	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	34										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GTTTCTCTTCTTGAAAGTGCA	0.423																																						ENST00000297203.2																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(100-102)caA>caT		chromosome 7 open reading frame 62							129.0	138.0	135.0					7																	88424155		2203	4300	6503	SO:0001583	missense	219557							g.chr7:88424155T>A	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.102A>T	7.37:g.88424155T>A	ENSP00000297203:p.Gln34His					ZNF804B_ENST00000333190.4_Intron	p.Q34H	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN			2	287	-			34						Missense_Mutation	SNP	ENST00000297203.2	37	c.102A>T	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.112718	0.56398	.	.	ENSG00000164645	ENST00000297203	T	0.14893	2.47	6.05	3.01	0.34805	.	0.596637	0.15690	N	0.249462	T	0.24736	0.0600	M	0.63428	1.95	0.27516	N	0.951536	D	0.53151	0.958	P	0.50378	0.639	T	0.06734	-1.0810	10	0.56958	D	0.05	-2.0081	7.7375	0.28823	0.0:0.7039:0.0:0.2961	.	34	Q8TBZ9	CG062_HUMAN	H	34	ENSP00000297203:Q34H	ENSP00000297203:Q34H	Q	-	3	2	C7orf62	88262091	0.752000	0.28338	0.903000	0.35520	0.735000	0.41995	0.020000	0.13466	0.729000	0.32403	-0.417000	0.06048	CAA		0.423	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		44	104	0	0	0	1	0	44	104				
TIMELESS	8914	broad.mit.edu	37	12	56822387	56822387	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:56822387C>T	ENST00000553532.1	-	12	1504	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	TIMELESS_ENST00000229201.4_Missense_Mutation_p.E451K|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						ATGTCCATCTCATTCACTGTT	0.572																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(1351-1353)Gag>Aag		timeless circadian clock							81.0	67.0	72.0					12																	56822387		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56822387C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1354G>A	12.37:g.56822387C>T	ENSP00000450607:p.Glu452Lys					TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.E452K	p.E451K	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			12	1505	-			452						Missense_Mutation	SNP	ENST00000553532.1	37	c.1351G>A	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562644	0.45694	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.08458	3.09;3.1	5.13	3.17	0.36434	.	0.118192	0.56097	D	0.000039	T	0.08582	0.0213	L	0.51422	1.61	0.80722	D	1	B;B	0.18610	0.029;0.017	B;B	0.22601	0.04;0.018	T	0.12091	-1.0561	10	0.27082	T	0.32	-11.6126	9.9409	0.41580	0.0:0.7725:0.1445:0.083	.	451;452	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	K	451;452	ENSP00000229201:E451K;ENSP00000450607:E452K	ENSP00000229201:E452K	E	-	1	0	TIMELESS	55108654	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.798000	0.55522	2.566000	0.86566	0.462000	0.41574	GAG		0.572	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		6	42	0	0	0	1	0	6	42				
ZNF687	57592	broad.mit.edu	37	1	151260445	151260445	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:151260445G>A	ENST00000368879.2	+	2	1776	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CATGCGCATCGAGGTCACCTG	0.627																																						ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(1678-1680)Gag>Aag		zinc finger protein 687							69.0	64.0	65.0					1																	151260445		2203	4300	6503	SO:0001583	missense	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151260445G>A		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.1678G>A	1.37:g.151260445G>A	ENSP00000357874:p.Glu560Lys						p.E560K	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	1776	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		560					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	ENST00000368879.2	37	c.1678G>A		.	.	.	.	.	.	.	.	.	.	G	29.0	4.968151	0.92855	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.36340	1.26;1.26;1.26	5.12	5.12	0.69794	.	0.000000	0.35772	N	0.002986	T	0.47173	0.1431	L	0.46670	1.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	T	0.42649	-0.9439	10	0.59425	D	0.04	.	17.4855	0.87687	0.0:0.0:1.0:0.0	.	560;560;560	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	K	560	ENSP00000336620:E560K;ENSP00000319829:E560K;ENSP00000357874:E560K	ENSP00000319829:E560K	E	+	1	0	ZNF687	149527069	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.652000	0.98499	2.653000	0.90120	0.561000	0.74099	GAG		0.627	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		14	85	0	0	0	1	0	14	85				
IGLV5-52	28779	broad.mit.edu	37	22	22673314	22673314	+	RNA	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr22:22673314C>T	ENST00000390289.2	+	0	112				BMS1P20_ENST00000426066.1_RNA					immunoglobulin lambda variable 5-52																		TCTGGAGCATCAGTCAGACTC	0.537																																						ENST00000390289.2																			0																				195.0	198.0	197.0					22																	22673314		2112	4225	6337			28779							g.chr22:22673314C>T	Z73669		22q11.2	2012-02-08			ENSG00000211643	ENSG00000211643		"""Immunoglobulins / IGL locus"""	5926	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151049		22.37:g.22673314C>T						LL22NC03-80A10.6_ENST00000426066.1_RNA								0	112	+									RNA	SNP	ENST00000390289.2	37																																																																																						0.537	IGLV5-52-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321109.1	NG_000002		33	296	0	0	0	1	0	33	296				
SPTA1	6708	broad.mit.edu	37	1	158637691	158637691	+	Silent	SNP	A	A	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:158637691A>T	ENST00000368147.4	-	15	2175	c.1995T>A	c.(1993-1995)gtT>gtA	p.V665V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	665					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGAGGCTGGCAACTTCACTCA	0.438																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1993-1995)gtT>gtA		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							83.0	79.0	80.0					1																	158637691		1853	4096	5949	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158637691A>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1995T>A	1.37:g.158637691A>T						SPTA1_ENST00000368147.3_Silent_p.V665V	p.V665V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			15	2175	-	all_hematologic(112;0.0378)		665					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.1995T>A	CCDS41423.1																																																																																				0.438	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		32	73	0	0	0	1	0	32	73				
MYH6	4624	broad.mit.edu	37	14	23868231	23868231	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:23868231A>G	ENST00000356287.3	-	14	1626	c.1597T>C	c.(1597-1599)Tcc>Ccc	p.S533P	MYH6_ENST00000405093.3_Missense_Mutation_p.S533P			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	533	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCAGGATGGACATGATGCCC	0.542																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(1597-1599)Tcc>Ccc		myosin, heavy chain 6, cardiac muscle, alpha							145.0	108.0	121.0					14																	23868231		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23868231A>G	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1597T>C	14.37:g.23868231A>G	ENSP00000348634:p.Ser533Pro					MYH6_ENST00000356287.3_Missense_Mutation_p.S533P	p.S533P	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	15	1667	-	all_cancers(95;2.54e-05)		533			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.1597T>C	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.220573	0.79464	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.74526	-0.85;-0.85	4.19	4.19	0.49359	Myosin head, motor domain (3);	.	.	.	.	D	0.86422	0.5929	M	0.89414	3.03	0.58432	D	0.999999	D	0.53619	0.961	D	0.63597	0.916	D	0.88952	0.3387	9	0.87932	D	0	.	12.7426	0.57261	1.0:0.0:0.0:0.0	.	533	P13533	MYH6_HUMAN	P	533	ENSP00000386041:S533P;ENSP00000348634:S533P	ENSP00000348634:S533P	S	-	1	0	MYH6	22938071	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.969000	0.93411	1.675000	0.50919	0.482000	0.46254	TCC		0.542	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			11	83	0	0	0	1	0	11	83				
SMAD4	4089	broad.mit.edu	37	18	48575095	48575095	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr18:48575095C>T	ENST00000342988.3	+	3	827	c.289C>T	c.(289-291)Cgt>Tgt	p.R97C	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Missense_Mutation_p.R97C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R97C|SMAD4_ENST00000588745.1_Missense_Mutation_p.R97C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	97	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GATCTATGCCCGTCTCTGGAG	0.373																																						ENST00000342988.3																			40	Whole gene deletion(36)|Unknown(4)	p.0?(36)|p.?(4)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(289-291)Cgt>Tgt		SMAD family member 4							154.0	141.0	146.0					18																	48575095		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48575095C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.289C>T	18.37:g.48575095C>T	ENSP00000341551:p.Arg97Cys					SMAD4_ENST00000452201.2_Missense_Mutation_p.R97C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R97C|SMAD4_ENST00000588745.1_Missense_Mutation_p.R97C|RP11-729L2.2_ENST00000590722.2_3'UTR	p.R97C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	3	827	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	97			MH1.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.289C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072682	0.93950	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	D;D;D	0.82433	-1.61;-1.61;-1.61	5.32	5.32	0.75619	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.92348	0.7572	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93540	0.6877	10	0.87932	D	0	.	17.7655	0.88476	0.0:1.0:0.0:0.0	.	97	Q13485	SMAD4_HUMAN	C	97	ENSP00000409551:R97C;ENSP00000341551:R97C;ENSP00000381452:R97C	ENSP00000341551:R97C	R	+	1	0	SMAD4	46829093	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	3.853000	0.55941	2.463000	0.83235	0.585000	0.79938	CGT		0.373	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		13	30	0	0	0	1	0	13	30				
TENM1	10178	broad.mit.edu	37	X	123516636	123516636	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:123516636C>G	ENST00000371130.3	-	30	7366	c.7303G>C	c.(7303-7305)Ggt>Cgt	p.G2435R	TENM1_ENST00000422452.2_Missense_Mutation_p.G2442R|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2435					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AATTGGAAACCAAATAGCTCC	0.323																																						ENST00000422452.2																			0											c.(7324-7326)Ggt>Cgt		teneurin transmembrane protein 1							117.0	126.0	123.0					X																	123516636		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123516636C>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7303G>C	X.37:g.123516636C>G	ENSP00000360171:p.Gly2435Arg					STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.G2435R	p.G2442R	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					31	7387	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.7324G>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737150	0.89482	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.97941	-4.62;-4.58	5.49	5.49	0.81192	.	0.049717	0.85682	D	0.000000	D	0.98670	0.9554	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.99870	1.1095	10	0.87932	D	0	.	18.4135	0.90561	0.0:1.0:0.0:0.0	.	2441;2442;2435	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	R	2435;2442	ENSP00000360171:G2435R;ENSP00000403954:G2442R	ENSP00000360171:G2435R	G	-	1	0	ODZ1	123344317	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	7.817000	0.86213	2.288000	0.76882	0.600000	0.82982	GGT		0.323	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		40	230	0	0	0	1	0	40	230				
LRCH4	4034	broad.mit.edu	37	7	100175784	100175784	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:100175784C>T	ENST00000310300.6	-	7	998	c.946G>A	c.(946-948)Gag>Aag	p.E316K	LRCH4_ENST00000497245.1_5'UTR	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	316					nervous system development (GO:0007399)	PML body (GO:0016605)				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCCTTACCTCATTTCCAGAC	0.587																																						ENST00000310300.6																			0				NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(946-948)Gag>Aag		leucine-rich repeats and calponin homology (CH) domain containing 4							149.0	110.0	124.0					7																	100175784		2203	4300	6503	SO:0001583	missense	4034				nervous system development	PML body	protein binding	g.chr7:100175784C>T	AF053356	CCDS34706.1	7q22	2008-05-20	2004-05-27	2004-05-28	ENSG00000077454	ENSG00000077454			6691	protein-coding gene	gene with protein product				LRN, LRRN1		9799793	Standard	XM_005250346		Approved		uc003uvj.3	O75427	OTTHUMG00000159544	ENST00000310300.6:c.946G>A	7.37:g.100175784C>T	ENSP00000309689:p.Glu316Lys					LRCH4_ENST00000497245.1_5'UTR	p.E316K	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN			7	998	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		316					A4D2D5|Q8WV85|Q96ID0	Missense_Mutation	SNP	ENST00000310300.6	37	c.946G>A	CCDS34706.1	.	.	.	.	.	.	.	.	.	.	c	22.7	4.325760	0.81580	.	.	ENSG00000077454	ENST00000310300	T	0.47177	0.85	5.46	5.46	0.80206	.	0.056455	0.64402	D	0.000001	T	0.57286	0.2043	M	0.84948	2.725	0.80722	D	1	B	0.27679	0.185	B	0.29942	0.109	T	0.62120	-0.6921	10	0.87932	D	0	-25.7153	16.8566	0.86007	0.0:1.0:0.0:0.0	.	316	O75427	LRCH4_HUMAN	K	316	ENSP00000309689:E316K	ENSP00000309689:E316K	E	-	1	0	LRCH4	100013720	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.477000	0.81069	2.589000	0.87451	0.538000	0.68166	GAG		0.587	LRCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356110.1	NM_002319		6	28	0	0	0	1	0	6	28				
CNKSR2	22866	broad.mit.edu	37	X	21581470	21581470	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:21581470G>C	ENST00000379510.3	+	13	1544	c.1508G>C	c.(1507-1509)aGt>aCt	p.S503T	CNKSR2_ENST00000425654.2_Missense_Mutation_p.S473T|CNKSR2_ENST00000543067.1_Missense_Mutation_p.S454T|AL928874.1_ENST00000579338.1_RNA|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000279451.4_Missense_Mutation_p.S503T	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	503	DUF1170.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GGTGATAAGAGTAATAGCCCA	0.408																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(1417-1419)aGt>aCt		connector enhancer of kinase suppressor of Ras 2							147.0	134.0	139.0					X																	21581470		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21581470G>C	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1508G>C	X.37:g.21581470G>C	ENSP00000368824:p.Ser503Thr					CNKSR2_ENST00000379510.3_Missense_Mutation_p.S503T|CNKSR2_ENST00000279451.4_Missense_Mutation_p.S503T|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000543067.1_Missense_Mutation_p.S454T	p.S473T	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			12	1898	+			503			DUF1170.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.1418G>C	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.779768	0.49891	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.19669	2.37;2.13;2.14;2.42	6.08	5.22	0.72569	Connector enhancer of kinase suppressor of ras 2 (1);	0.224065	0.53938	D	0.000046	T	0.17534	0.0421	L	0.38175	1.15	0.29727	N	0.83822	B;B;B;B	0.32753	0.121;0.196;0.383;0.25	B;B;B;B	0.37267	0.122;0.122;0.245;0.122	T	0.13602	-1.0503	10	0.13853	T	0.58	-4.0279	10.5884	0.45296	0.1494:0.0:0.8506:0.0	.	473;454;95;503	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	T	473;454;503;503	ENSP00000397906:S473T;ENSP00000444633:S454T;ENSP00000279451:S503T;ENSP00000368824:S503T	ENSP00000279451:S503T	S	+	2	0	CNKSR2	21491391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.075000	0.57584	1.311000	0.45024	0.600000	0.82982	AGT		0.408	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		13	78	0	0	0	1	0	13	78				
B4GALT4	8702	broad.mit.edu	37	3	118948733	118948733	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr3:118948733C>T	ENST00000483209.1	-	3	855	c.214G>A	c.(214-216)Gta>Ata	p.V72I	B4GALT4_ENST00000460321.1_Intron|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000359213.3_Missense_Mutation_p.V72I|B4GALT4_ENST00000467604.1_Missense_Mutation_p.V72I|B4GALT4_ENST00000393765.2_Missense_Mutation_p.V72I|B4GALT4_ENST00000471675.1_Missense_Mutation_p.V25I			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	72					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	TCAAGTTCTACCTTCTTCGTG	0.368																																						ENST00000467604.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14						c.(214-216)Gta>Ata		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	N-Acetyl-D-glucosamine(DB00141)						146.0	135.0	139.0					3																	118948733		2203	4300	6503	SO:0001583	missense	8702				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity	g.chr3:118948733C>T	AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"""Beta 4-glycosyltransferases"""	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.214G>A	3.37:g.118948733C>T	ENSP00000420161:p.Val72Ile					B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000471675.1_Missense_Mutation_p.V25I|B4GALT4_ENST00000460321.1_Intron|B4GALT4_ENST00000483209.1_Missense_Mutation_p.V72I|B4GALT4_ENST00000393765.2_Missense_Mutation_p.V72I|B4GALT4_ENST00000359213.3_Missense_Mutation_p.V72I	p.V72I			O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	3	605	-			72					Q68D68|Q9BSW3|Q9C078	Missense_Mutation	SNP	ENST00000483209.1	37	c.214G>A	CCDS2986.1	.	.	.	.	.	.	.	.	.	.	C	9.929	1.214191	0.22289	.	.	ENSG00000121578	ENST00000483209;ENST00000467604;ENST00000471675;ENST00000359213;ENST00000393765;ENST00000475803;ENST00000479150	T;T;T;T;T;T	0.57436	0.8;0.4;0.8;0.8;1.55;0.96	5.16	3.2	0.36748	.	0.908661	0.09685	N	0.769193	T	0.36358	0.0964	N	0.22421	0.69	0.09310	N	1	B	0.20887	0.049	B	0.14023	0.01	T	0.17561	-1.0365	10	0.31617	T	0.26	-0.0164	7.6121	0.28137	0.2484:0.4754:0.2762:0.0	.	72	O60513	B4GT4_HUMAN	I	72;72;25;72;72;72;72	ENSP00000420161:V72I;ENSP00000417226:V72I;ENSP00000352144:V72I;ENSP00000377360:V72I;ENSP00000417188:V72I;ENSP00000417958:V72I	ENSP00000352144:V72I	V	-	1	0	B4GALT4	120431423	0.000000	0.05858	0.002000	0.10522	0.042000	0.13812	0.701000	0.25616	1.387000	0.46486	0.491000	0.48974	GTA		0.368	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		7	104	0	0	0	1	0	7	104				
ZNF292	23036	broad.mit.edu	37	6	87969626	87969626	+	Silent	SNP	A	A	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:87969626A>G	ENST00000369577.3	+	8	6322	c.6279A>G	c.(6277-6279)aaA>aaG	p.K2093K	ZNF292_ENST00000339907.4_Silent_p.K2088K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2093						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGGAGAAAAAACGAAAGAAGC	0.403																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(6277-6279)aaA>aaG		zinc finger protein 292							68.0	71.0	70.0					6																	87969626		1873	4087	5960	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969626A>G	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6279A>G	6.37:g.87969626A>G						ZNF292_ENST00000339907.4_Silent_p.K2088K	p.K2093K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	6322	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2093					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.6279A>G	CCDS47457.1																																																																																				0.403	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		52	32	0	0	0	1	0	52	32				
SPECC1	92521	broad.mit.edu	37	17	20109066	20109066	+	Silent	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:20109066C>T	ENST00000261503.5	+	4	1755	c.1704C>T	c.(1702-1704)gcC>gcT	p.A568A	SPECC1_ENST00000395525.3_Silent_p.A487A|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395522.2_Silent_p.A487A|SPECC1_ENST00000395529.3_Silent_p.A568A|SPECC1_ENST00000395530.2_Silent_p.A487A|SPECC1_ENST00000395527.4_Silent_p.A568A|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000536879.1_Intron	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	568					cell adhesion (GO:0007155)	nucleus (GO:0005634)		p.A568A(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CCACAGAGGCCAGTGCTGTGG	0.468																																						ENST00000395530.2																			1	Substitution - coding silent(1)	p.A568A(1)	large_intestine(1)	breast(1)|large_intestine(3)|ovary(4)	8						c.(1459-1461)gcC>gcT		sperm antigen with calponin homology and coiled-coil domains 1							68.0	70.0	70.0					17																	20109066		2203	4300	6503	SO:0001819	synonymous_variant	92521					nucleus		g.chr17:20109066C>T	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.1704C>T	17.37:g.20109066C>T						SPECC1_ENST00000395522.2_Silent_p.A487A|SPECC1_ENST00000472876.1_Intron|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000261503.5_Silent_p.A568A|SPECC1_ENST00000395529.3_Silent_p.A568A|SPECC1_ENST00000395525.3_Silent_p.A487A|SPECC1_ENST00000395527.4_Silent_p.A568A|SPECC1_ENST00000536879.1_Intron	p.A487A	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	2	1669	+			568					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Silent	SNP	ENST00000261503.5	37	c.1461C>T	CCDS32590.1																																																																																				0.468	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		15	78	0	0	0	1	0	15	78				
GMPR2	51292	broad.mit.edu	37	14	24707474	24707474	+	Missense_Mutation	SNP	G	G	A	rs374698582		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:24707474G>A	ENST00000355299.4	+	9	1181	c.720G>A	c.(718-720)atG>atA	p.M240I	GMPR2_ENST00000557854.1_Missense_Mutation_p.M258I|GMPR2_ENST00000456667.3_Missense_Mutation_p.M212I|GMPR2_ENST00000420554.2_Missense_Mutation_p.M258I|GMPR2_ENST00000559836.1_Missense_Mutation_p.M240I|GMPR2_ENST00000559910.1_Missense_Mutation_p.M207I|GMPR2_ENST00000559104.1_Missense_Mutation_p.M225I|GMPR2_ENST00000348719.7_Missense_Mutation_p.M240I|GMPR2_ENST00000399440.2_Missense_Mutation_p.M240I	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	240					GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		ACTTCGTGATGCTGGGTGGCA	0.542																																						ENST00000557854.1																			0				large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(772-774)atG>atA		guanosine monophosphate reductase 2							65.0	69.0	67.0					14																	24707474		2154	4258	6412	SO:0001583	missense	51292				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding	g.chr14:24707474G>A		CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.720G>A	14.37:g.24707474G>A	ENSP00000347449:p.Met240Ile					GMPR2_ENST00000559910.1_Missense_Mutation_p.M207I|GMPR2_ENST00000559836.1_Missense_Mutation_p.M240I|GMPR2_ENST00000348719.7_Missense_Mutation_p.M240I|GMPR2_ENST00000559104.1_Missense_Mutation_p.M225I|GMPR2_ENST00000355299.4_Missense_Mutation_p.M240I|GMPR2_ENST00000420554.2_Missense_Mutation_p.M258I|GMPR2_ENST00000456667.3_Missense_Mutation_p.M212I|GMPR2_ENST00000399440.2_Missense_Mutation_p.M240I	p.M258I			Q9P2T1	GMPR2_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	8	1051	+			240					D3DS66|Q567T0|Q6IAJ8|Q86T14	Missense_Mutation	SNP	ENST00000355299.4	37	c.774G>A	CCDS41935.1	.	.	.	.	.	.	.	.	.	.	G	34	5.317655	0.95682	.	.	ENSG00000100938	ENST00000355299;ENST00000421944;ENST00000420554;ENST00000399440;ENST00000348719;ENST00000456667	D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);IMP dehydrogenase/GMP reductase (1);	0.000000	0.85682	D	0.000000	D	0.96494	0.8856	H	0.97896	4.1	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;1.0;1.0	D	0.97205	0.9867	10	0.87932	D	0	-2.7735	19.6509	0.95805	0.0:0.0:1.0:0.0	.	77;212;240;258;242;240	Q86SZ5;Q86T14;Q6PKC0;Q9P2T1-2;Q7Z527;Q9P2T1	.;.;.;.;.;GMPR2_HUMAN	I	240;240;258;240;240;212	ENSP00000347449:M240I;ENSP00000392859:M258I;ENSP00000382369:M240I;ENSP00000334409:M240I;ENSP00000405743:M212I	ENSP00000334409:M240I	M	+	3	0	GMPR2	23777314	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.864000	0.99589	2.941000	0.99782	0.655000	0.94253	ATG		0.542	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576		10	53	0	0	0	1	0	10	53				
SNTB1	6641	broad.mit.edu	37	8	121823612	121823612	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr8:121823612C>T	ENST00000395601.3	-	2	886	c.472G>A	c.(472-474)Gac>Aac	p.D158N	SNTB1_ENST00000519177.1_5'UTR|SNTB1_ENST00000517992.1_Missense_Mutation_p.D158N|RP11-713M15.2_ENST00000605955.1_RNA	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	158	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.|PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				muscle contraction (GO:0006936)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|protein complex (GO:0043234)|synapse (GO:0045202)				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			AGGATGGCGTCGCCCACGTAC	0.647																																						ENST00000395601.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24						c.(472-474)Gac>Aac		syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)							64.0	66.0	66.0					8																	121823612		2203	4300	6503	SO:0001583	missense	6641				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	g.chr8:121823612C>T	AF028828	CCDS6334.1	8q23-q24	2013-01-10	2002-08-29		ENSG00000172164	ENSG00000172164		"""Pleckstrin homology (PH) domain containing"""	11168	protein-coding gene	gene with protein product	"""tax interaction protein 43"""	600026	"""syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic component 1)"""	SNT2B1		8183929, 9482110	Standard	NM_021021		Approved	59-DAP, A1B, BSYN2, TIP-43, SNT2	uc010mdg.3	Q13884	OTTHUMG00000165041	ENST00000395601.3:c.472G>A	8.37:g.121823612C>T	ENSP00000378965:p.Asp158Asn					SNTB1_ENST00000517992.1_Missense_Mutation_p.D158N|SNTB1_ENST00000519177.1_5'UTR	p.D158N	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	886	-	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		158			PDZ.|PH 1.		A8K9E0|O14912|Q4KMG8	Missense_Mutation	SNP	ENST00000395601.3	37	c.472G>A	CCDS6334.1	.	.	.	.	.	.	.	.	.	.	C	36	5.780175	0.96929	.	.	ENSG00000172164	ENST00000395601;ENST00000517992	T;T	0.74002	-0.8;-0.8	4.84	4.84	0.62591	PDZ/DHR/GLGF (4);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.90865	0.7130	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93916	0.7201	10	0.87932	D	0	.	18.3059	0.90180	0.0:1.0:0.0:0.0	.	158;158	Q13884;Q13884-2	SNTB1_HUMAN;.	N	158	ENSP00000378965:D158N;ENSP00000431124:D158N	ENSP00000378965:D158N	D	-	1	0	SNTB1	121892793	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.646000	0.83445	2.379000	0.81126	0.561000	0.74099	GAC		0.647	SNTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381535.1	NM_021021		33	94	0	0	0	1	0	33	94				
SHOX	6473	broad.mit.edu	37	X	601763	601763	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:601763G>A	ENST00000554971.1	+	4	665	c.574G>A	c.(574-576)Gac>Aac	p.D192N	SHOX_ENST00000381578.1_Missense_Mutation_p.D192N|SHOX_ENST00000381575.1_Missense_Mutation_p.D192N|SHOX_ENST00000334060.3_Missense_Mutation_p.D192N			O15266	SHOX_HUMAN	short stature homeobox	192					skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|lung(9)|prostate(1)	13		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)				CAACCACCTAGACGCCTGCCG	0.582																																					Ovarian(95;18 1419 12424 14056 28266)	ENST00000381578.1																			0				endometrium(3)|lung(9)|prostate(1)	13						c.(574-576)Gac>Aac		short stature homeobox							224.0	196.0	206.0					X																	601763		2203	4296	6499	SO:0001583	missense	6473				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:601763G>A	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"""Pseudoautosomal regions / PAR1"", ""Homeoboxes / PRD class"""	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.574G>A	X.37:g.601763G>A	ENSP00000452016:p.Asp192Asn					SHOX_ENST00000554971.1_Missense_Mutation_p.D192N|SHOX_ENST00000334060.3_Missense_Mutation_p.D192N|SHOX_ENST00000381575.1_Missense_Mutation_p.D192N	p.D192N	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN			5	1265	+		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)	192					O00412|O00413|O15267	Missense_Mutation	SNP	ENST00000554971.1	37	c.574G>A	CCDS14107.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687433	0.48097	.	.	ENSG00000185960	ENST00000334060;ENST00000381578;ENST00000554971;ENST00000381575	D;D;D;D	0.94280	-3.39;-3.29;-3.29;-3.39	1.53	1.53	0.23141	.	0.132235	0.49305	U	0.000152	D	0.88526	0.6460	L	0.34521	1.04	0.09310	N	1	P;P	0.47762	0.9;0.605	P;B	0.45794	0.493;0.179	T	0.80432	-0.1385	10	0.18276	T	0.48	.	11.5022	0.50444	0.0:0.0:1.0:0.0	.	192;192	O15266-2;O15266	.;SHOX_HUMAN	N	192	ENSP00000335505:D192N;ENSP00000370990:D192N;ENSP00000452016:D192N;ENSP00000370987:D192N	ENSP00000335505:D192N	D	+	1	0	SHOX	521763	1.000000	0.71417	0.935000	0.37517	0.187000	0.23431	7.157000	0.77461	0.821000	0.34540	0.115000	0.15696	GAC		0.582	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451		4	80	0	0	0	1	0	4	80				
METTL18	92342	broad.mit.edu	37	1	169762501	169762501	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:169762501C>T	ENST00000310392.4	-	2	689	c.336G>A	c.(334-336)atG>atA	p.M112I	C1orf112_ENST00000413811.2_5'Flank|C1orf112_ENST00000359326.4_5'Flank|METTL18_ENST00000303469.2_Missense_Mutation_p.M112I|C1orf112_ENST00000286031.6_5'Flank|C1orf112_ENST00000456684.1_5'Flank|C1orf112_ENST00000498289.1_Intron	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN	methyltransferase like 18	112						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			kidney(1)|large_intestine(3)|lung(4)	8						TATTTTCTAACATCTTCTTTA	0.408																																						ENST00000310392.4																			0				kidney(1)|large_intestine(3)|lung(4)	8						c.(334-336)atG>atA		methyltransferase like 18							75.0	75.0	75.0					1																	169762501		2203	4300	6503	SO:0001583	missense	92342					cytoplasm	protein methyltransferase activity	g.chr1:169762501C>T	AL035369	CCDS1284.1	1q24.2	2013-10-11	2011-03-02	2011-03-02	ENSG00000171806	ENSG00000171806			28793	protein-coding gene	gene with protein product	"""histidine protein methyltransferase 1"""	615255	"""chromosome 1 open reading frame 156"""	C1orf156		20864530	Standard	NM_033418		Approved	MGC9084, AsTP2, HPM1	uc001ggn.4	O95568	OTTHUMG00000035813	ENST00000310392.4:c.336G>A	1.37:g.169762501C>T	ENSP00000307975:p.Met112Ile					C1orf112_ENST00000498289.1_Intron|METTL18_ENST00000303469.2_Missense_Mutation_p.M112I	p.M112I	NM_033418.2	NP_219486.1	O95568	MET18_HUMAN			2	689	-			112					B2R9T5	Missense_Mutation	SNP	ENST00000310392.4	37	c.336G>A	CCDS1284.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.653084	0.29336	.	.	ENSG00000171806	ENST00000310392;ENST00000303469;ENST00000454472	T;T;T	0.39229	2.64;2.64;1.09	5.8	-0.431	0.12295	.	0.186696	0.32218	N	0.006416	T	0.06188	0.0160	N	0.22421	0.69	0.22017	N	0.999415	B	0.06786	0.001	B	0.06405	0.002	T	0.31447	-0.9943	10	0.15066	T	0.55	-11.0411	0.7495	0.00988	0.3784:0.2698:0.1313:0.2205	.	112	O95568	MET18_HUMAN	I	112	ENSP00000307975:M112I;ENSP00000307077:M112I;ENSP00000402305:M112I	ENSP00000307077:M112I	M	-	3	0	METTL18	168029125	0.571000	0.26659	0.629000	0.29254	0.944000	0.59088	-0.221000	0.09202	-0.024000	0.13941	0.655000	0.94253	ATG		0.408	METTL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087109.1	NM_033418		8	89	0	0	0	1	0	8	89				
SEMA4D	10507	broad.mit.edu	37	9	92003563	92003563	+	Silent	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:92003563C>T	ENST00000450295.1	-	11	1871	c.1095G>A	c.(1093-1095)ccG>ccA	p.P365P	SEMA4D_ENST00000438547.2_Silent_p.P365P|SEMA4D_ENST00000455551.2_Silent_p.P365P|SEMA4D_ENST00000422704.2_Silent_p.P365P|SEMA4D_ENST00000339861.4_Silent_p.P365P|SEMA4D_ENST00000356444.2_Silent_p.P365P|SEMA4D_ENST00000343780.4_Silent_p.P365P|SEMA4D_ENST00000420987.1_Silent_p.P365P			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	365	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTCCAGGCCGCGGCTTGGGTA	0.652																																						ENST00000450295.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1093-1095)ccG>ccA		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D							43.0	38.0	40.0					9																	92003563		2203	4300	6503	SO:0001819	synonymous_variant	10507				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	g.chr9:92003563C>T	U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.1095G>A	9.37:g.92003563C>T						SEMA4D_ENST00000438547.2_Silent_p.P365P|SEMA4D_ENST00000356444.2_Silent_p.P365P|SEMA4D_ENST00000420987.1_Silent_p.P365P|SEMA4D_ENST00000339861.4_Silent_p.P365P|SEMA4D_ENST00000422704.2_Silent_p.P365P|SEMA4D_ENST00000455551.2_Silent_p.P365P|SEMA4D_ENST00000343780.4_Silent_p.P365P	p.P365P			Q92854	SEM4D_HUMAN			11	1871	-			365			Sema.		B2RPM6|Q7Z5S4|Q8N8B0	Silent	SNP	ENST00000450295.1	37	c.1095G>A	CCDS6685.1																																																																																				0.652	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342411.1	NM_006378		28	9	0	0	0	1	0	28	9				
MYO1A	4640	broad.mit.edu	37	12	57432763	57432763	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:57432763C>T	ENST00000442789.2	-	17	1650	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	MYO1A_ENST00000544473.1_Missense_Mutation_p.E293K|MYO1A_ENST00000300119.3_Missense_Mutation_p.E455K|MYO1A_ENST00000476795.1_5'UTR	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	455	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AGGCACTCCTCATCCAACATG	0.557																																						ENST00000442789.2																			0				breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						c.(1363-1365)Gag>Aag		myosin IA							57.0	56.0	56.0					12																	57432763		2203	4300	6503	SO:0001583	missense	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57432763C>T	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.1363G>A	12.37:g.57432763C>T	ENSP00000393392:p.Glu455Lys					MYO1A_ENST00000300119.3_Missense_Mutation_p.E455K|MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000544473.1_Missense_Mutation_p.E293K	p.E455K	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN			17	1650	-			455			Myosin head-like.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.1363G>A	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077757	0.94000	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	T;T;T	0.80653	-1.4;-1.4;-1.4	4.55	4.55	0.56014	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.92919	0.7747	H	0.96633	3.855	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.94942	0.8092	10	0.87932	D	0	.	15.209	0.73202	0.0:1.0:0.0:0.0	.	455	Q9UBC5	MYO1A_HUMAN	K	455;455;293	ENSP00000300119:E455K;ENSP00000393392:E455K;ENSP00000440514:E293K	ENSP00000300119:E455K	E	-	1	0	MYO1A	55719030	1.000000	0.71417	0.972000	0.41901	0.954000	0.61252	7.651000	0.83577	2.542000	0.85734	0.555000	0.69702	GAG		0.557	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		9	30	0	0	0	1	0	9	30				
POLR1B	84172	broad.mit.edu	37	2	113322052	113322052	+	Silent	SNP	C	C	T	rs373513321		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:113322052C>T	ENST00000263331.5	+	10	2302	c.1722C>T	c.(1720-1722)atC>atT	p.I574I	POLR1B_ENST00000537335.1_Silent_p.I363I|POLR1B_ENST00000541869.1_Silent_p.I612I|POLR1B_ENST00000417433.2_Silent_p.I518I|POLR1B_ENST00000409894.3_Intron	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	574					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CTCCAGGCATCGCAGATTCTC	0.493																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1720-1722)atC>atT		polymerase (RNA) I polypeptide B, 128kDa		C	,	0,4406		0,0,2203	272.0	245.0	254.0		1554,1722	-7.6	0.0	2		254	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	POLR1B	NM_001137604.1,NM_019014.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	518/1080,574/1136	113322052	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113322052C>T	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.1722C>T	2.37:g.113322052C>T						POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000537335.1_Silent_p.I363I|POLR1B_ENST00000541869.1_Silent_p.I612I|POLR1B_ENST00000417433.2_Silent_p.I518I	p.I574I	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			10	2302	+			574					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Silent	SNP	ENST00000263331.5	37	c.1722C>T	CCDS2097.1																																																																																				0.493	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		27	151	0	0	0	1	0	27	151				
OPA1	4976	broad.mit.edu	37	3	193361784	193361784	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr3:193361784C>T	ENST00000392438.3	+	14	1567	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	OPA1_ENST00000361908.3_Missense_Mutation_p.R482C|OPA1_ENST00000361828.2_Missense_Mutation_p.R463C|OPA1_ENST00000361510.2_Missense_Mutation_p.R500C|OPA1_ENST00000361715.2_Missense_Mutation_p.R464C|OPA1_ENST00000361150.2_Missense_Mutation_p.R446C	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	445	Dynamin-type G.		R -> H (in OPA1 and DOA+). {ECO:0000269|PubMed:12566046, ECO:0000269|PubMed:15531309, ECO:0000269|PubMed:16240368}.		apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GGATGCTGAACGCAGTATTGT	0.373																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(1498-1500)Cgc>Tgc		optic atrophy 1 (autosomal dominant)							79.0	73.0	75.0					3																	193361784		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193361784C>T	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1333C>T	3.37:g.193361784C>T	ENSP00000376233:p.Arg445Cys					OPA1_ENST00000361908.3_Missense_Mutation_p.R482C|OPA1_ENST00000392438.3_Missense_Mutation_p.R445C|OPA1_ENST00000361828.2_Missense_Mutation_p.R463C|OPA1_ENST00000361150.2_Missense_Mutation_p.R446C|OPA1_ENST00000361715.2_Missense_Mutation_p.R464C	p.R500C	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	16	1732	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		445					D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.1498C>T	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186155	0.78789	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.97066	-4.23;-4.23;-4.23;-4.23;-4.23;-4.23	5.8	5.8	0.92144	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.98654	0.9549	M	0.86805	2.84	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.79108	0.988;0.95;0.992;0.992;0.967;0.992;0.95;0.989	D	0.99501	1.0953	10	0.87932	D	0	-7.8458	19.0512	0.93046	0.0:1.0:0.0:0.0	.	409;445;427;446;463;482;464;500	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	C	482;445;500;464;463;446	ENSP00000354681:R482C;ENSP00000376233:R445C;ENSP00000355324:R500C;ENSP00000355311:R464C;ENSP00000354429:R463C;ENSP00000354781:R446C	ENSP00000354781:R446C	R	+	1	0	OPA1	194844478	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	3.866000	0.56040	2.735000	0.93741	0.655000	0.94253	CGC		0.373	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		13	124	0	0	0	1	0	13	124				
TRPC6	7225	broad.mit.edu	37	11	101362340	101362340	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:101362340C>T	ENST00000344327.3	-	3	1499	c.1075G>A	c.(1075-1077)Ggt>Agt	p.G359S	TRPC6_ENST00000532133.1_Missense_Mutation_p.G359S|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000360497.4_Missense_Mutation_p.G359S	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	359					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTTGGGCGACCGTGATCACCA	0.433																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1075-1077)Ggt>Agt		transient receptor potential cation channel, subfamily C, member 6							138.0	140.0	139.0					11																	101362340		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101362340C>T	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1075G>A	11.37:g.101362340C>T	ENSP00000340913:p.Gly359Ser					TRPC6_ENST00000532133.1_Missense_Mutation_p.G359S|TRPC6_ENST00000360497.4_Missense_Mutation_p.G359S|TRPC6_ENST00000348423.4_Intron	p.G359S	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	3	1499	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	359					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.1075G>A	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373513	0.24857	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000360497	T;T;T	0.62105	0.05;0.05;0.05	6.14	1.14	0.20703	.	0.548004	0.23002	N	0.053070	T	0.45716	0.1356	L	0.46670	1.46	0.09310	N	1	B;B	0.23990	0.095;0.062	B;B	0.16289	0.015;0.011	T	0.24764	-1.0151	10	0.13853	T	0.58	1.0131	6.7704	0.23591	0.1144:0.6421:0.0:0.2436	.	359;359	Q9Y210-3;Q9Y210	.;TRPC6_HUMAN	S	359	ENSP00000340913:G359S;ENSP00000435574:G359S;ENSP00000353687:G359S	ENSP00000340913:G359S	G	-	1	0	TRPC6	100867550	0.000000	0.05858	0.000000	0.03702	0.321000	0.28281	0.700000	0.25601	-0.023000	0.13963	0.650000	0.86243	GGT		0.433	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		32	274	0	0	0	1	0	32	274				
EXOSC3	51010	broad.mit.edu	37	9	37785032	37785032	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:37785032G>C	ENST00000327304.5	-	1	22	c.10C>G	c.(10-12)Cct>Gct	p.P4A	EXOSC3_ENST00000396521.3_Missense_Mutation_p.P4A|RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000490516.1_5'Flank	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	4					CUT catabolic process (GO:0071034)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of isotype switching (GO:0045830)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		ACAGACGCAGGTTCGGCCATC	0.667																																						ENST00000327304.5																			0				breast(2)|endometrium(1)|kidney(1)	4						c.(10-12)Cct>Gct		exosome component 3							15.0	16.0	16.0					9																	37785032		2198	4297	6495	SO:0001583	missense	51010				CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr9:37785032G>C	BC002437	CCDS35016.1, CCDS43805.1	9p11	2009-01-20			ENSG00000107371	ENSG00000107371			17944	protein-coding gene	gene with protein product	"""exosome component Rrp40"", ""CGI-102 protein"""	606489				10810093, 11110791	Standard	NM_016042		Approved	hRrp40p, Rrp40p, RRP40, CGI-102, p10, hRrp-40	uc004aal.3	Q9NQT5	OTTHUMG00000019932	ENST00000327304.5:c.10C>G	9.37:g.37785032G>C	ENSP00000323046:p.Pro4Ala					RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000396521.3_Missense_Mutation_p.P4A	p.P4A	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN		GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)	1	22	-			4					A8K0K6|Q5QP85|Q9Y3A8	Missense_Mutation	SNP	ENST00000327304.5	37	c.10C>G	CCDS35016.1	.	.	.	.	.	.	.	.	.	.	g	0.069	-1.206475	0.01568	.	.	ENSG00000107371	ENST00000327304;ENST00000396521	T;D	0.85088	-1.23;-1.94	4.85	-0.654	0.11443	.	1.211140	0.05873	N	0.624905	T	0.65238	0.2672	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.55528	-0.8127	10	0.02654	T	1	0.7551	6.233	0.20747	0.1177:0.5391:0.2654:0.0778	.	4;4	A8K0K6;Q9NQT5	.;EXOS3_HUMAN	A	4	ENSP00000323046:P4A;ENSP00000379775:P4A	ENSP00000323046:P4A	P	-	1	0	EXOSC3	37775032	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.688000	0.05150	-0.154000	0.11118	-2.973000	0.00080	CCT		0.667	EXOSC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052478.3	NM_016042		7	26	0	0	0	1	0	7	26				
MVD	4597	broad.mit.edu	37	16	88722565	88722565	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr16:88722565C>T	ENST00000301012.3	-	5	580	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	184					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGCCACTTGCCGAGCGATGCT	0.692																																						ENST00000301012.3																			0				endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12						c.(550-552)cGg>cAg		mevalonate (diphospho) decarboxylase							79.0	71.0	73.0					16																	88722565		2198	4300	6498	SO:0001583	missense	4597				cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity	g.chr16:88722565C>T	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"""mevalonate pyrophosphate decarboxylase"""	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.551G>A	16.37:g.88722565C>T	ENSP00000301012:p.Arg184Gln					MVD_ENST00000568709.1_5'UTR	p.R184Q	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	5	580	-			184					Q53Y65	Missense_Mutation	SNP	ENST00000301012.3	37	c.551G>A	CCDS10968.1	.	.	.	.	.	.	.	.	.	.	C	6.013	0.370705	0.11409	.	.	ENSG00000167508	ENST00000301012;ENST00000378400	T	0.40756	1.02	4.43	0.486	0.16836	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.497773	0.22150	N	0.063926	T	0.15435	0.0372	N	0.03177	-0.4	0.36991	D	0.894769	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.15150	-1.0447	10	0.12766	T	0.61	1.0422	7.3652	0.26768	0.0:0.2536:0.0:0.7464	.	184;199	P53602;Q59G80	MVD1_HUMAN;.	Q	184;13	ENSP00000301012:R184Q	ENSP00000301012:R184Q	R	-	2	0	MVD	87250066	0.616000	0.27035	0.975000	0.42487	0.237000	0.25408	0.114000	0.15520	0.075000	0.16796	0.491000	0.48974	CGG		0.692	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461		16	94	0	0	0	1	0	16	94				
TTC25	83538	broad.mit.edu	37	17	40094848	40094848	+	RNA	SNP	G	G	A	rs375888994		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:40094848G>A	ENST00000591658.1	+	0	732							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CCTGACTGTGGAGGACCTCAT	0.587																																						ENST00000591658.1																			0				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12								tetratricopeptide repeat domain 25		G	LYS/GLU	0,4146		0,0,2073	130.0	136.0	134.0		664	5.7	1.0	17		134	1,8421		0,1,4210	no	missense	TTC25	NM_031421.2	56	0,1,6283	AA,AG,GG		0.0119,0.0,0.0080	benign	222/607	40094848	1,12567	2073	4211	6284			83538					cytoplasm	protein binding	g.chr17:40094848G>A	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40094848G>A										Q96NG3	TTC25_HUMAN			0	732	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)						Q6NX40|Q6PJ04|Q9H0K5	RNA	SNP	ENST00000591658.1	37																																																																																						0.587	TTC25-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000449237.1	NM_031421		10	186	0	0	0	1	0	10	186				
MEX3A	92312	broad.mit.edu	37	1	156046533	156046533	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:156046533G>A	ENST00000532414.2	-	2	1394	c.1395C>T	c.(1393-1395)ggC>ggT	p.G465G	MEX3A_ENST00000442784.1_5'Flank|AL355388.1_ENST00000410679.1_RNA	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	465						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					AATCCCGCCCGCCGCCGGGGC	0.692																																						ENST00000532414.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(1393-1395)ggC>ggT		mex-3 RNA binding family member A							13.0	16.0	15.0					1																	156046533		1967	4133	6100	SO:0001819	synonymous_variant	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156046533G>A	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.1395C>T	1.37:g.156046533G>A							p.G465G	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN			2	1394	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		465						Silent	SNP	ENST00000532414.2	37	c.1395C>T	CCDS53377.1																																																																																				0.692	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		4	18	0	0	0	1	0	4	18				
VSTM1	284415	broad.mit.edu	37	19	54544280	54544280	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:54544280C>G	ENST00000338372.2	-	9	821	c.646G>C	c.(646-648)Gag>Cag	p.E216Q	VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000366170.2_Missense_Mutation_p.E128Q|VSTM1_ENST00000376626.1_Missense_Mutation_p.E185Q	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	216					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		GAAGCTGCCTCAGACAGGGCG	0.527																																						ENST00000338372.2																			0				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(646-648)Gag>Cag		V-set and transmembrane domain containing 1							55.0	51.0	52.0					19																	54544280		2203	4300	6503	SO:0001583	missense	284415					integral to membrane		g.chr19:54544280C>G	AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.646G>C	19.37:g.54544280C>G	ENSP00000343366:p.Glu216Gln					VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000366170.2_Missense_Mutation_p.E128Q|VSTM1_ENST00000376626.1_Missense_Mutation_p.E185Q	p.E216Q	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN		GBM - Glioblastoma multiforme(134;0.165)	9	821	-	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		216					B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	37	c.646G>C	CCDS12872.1	.	.	.	.	.	.	.	.	.	.	C	9.585	1.124727	0.20959	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	T;T;T;T	0.59772	1.94;6.87;5.63;0.24	2.59	0.421	0.16451	.	.	.	.	.	T	0.35998	0.0951	L	0.29908	0.895	0.09310	N	1	P;P	0.50943	0.94;0.94	B;B	0.40506	0.331;0.331	T	0.20405	-1.0276	9	0.13470	T	0.59	.	4.8225	0.13398	0.0:0.6953:0.0:0.3047	.	185;216	D2DJS4;Q6UX27	.;VSTM1_HUMAN	Q	106;216;185;128	ENSP00000409412:E106Q;ENSP00000343366:E216Q;ENSP00000365813:E185Q;ENSP00000444153:E128Q	ENSP00000343366:E216Q	E	-	1	0	VSTM1	59236092	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-0.919000	0.04017	0.202000	0.20498	-0.236000	0.12185	GAG		0.527	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481		5	37	0	0	0	1	0	5	37				
DPP10	57628	broad.mit.edu	37	2	116525882	116525882	+	Missense_Mutation	SNP	C	C	T	rs142535149		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:116525882C>T	ENST00000410059.1	+	13	1603	c.1123C>T	c.(1123-1125)Ccc>Tcc	p.P375S	DPP10_ENST00000393147.2_Missense_Mutation_p.P379S|DPP10_ENST00000409163.1_Missense_Mutation_p.P325S|DPP10_ENST00000310323.8_Missense_Mutation_p.P368S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	375						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GAATGAGGAGCCCGTGTTTTC	0.448																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1123-1125)Ccc>Tcc		dipeptidyl-peptidase 10 (non-functional)							121.0	115.0	117.0					2																	116525882		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116525882C>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1123C>T	2.37:g.116525882C>T	ENSP00000386565:p.Pro375Ser					DPP10_ENST00000310323.8_Missense_Mutation_p.P368S|DPP10_ENST00000409163.1_Missense_Mutation_p.P325S|DPP10_ENST00000393147.2_Missense_Mutation_p.P379S	p.P375S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			13	1603	+			375					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1123C>T	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597260	0.87055	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.34275	1.37;1.37;1.37;1.37	5.25	5.25	0.73442	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67942	0.2947	M	0.90019	3.08	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.81914	0.984;0.918;0.995;0.991	T	0.74934	-0.3495	10	0.87932	D	0	-0.1184	17.5891	0.87991	0.0:1.0:0.0:0.0	.	368;379;371;375	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	S	375;325;379;368;325	ENSP00000386565:P375S;ENSP00000387038:P325S;ENSP00000376855:P379S;ENSP00000309066:P368S	ENSP00000309066:P368S	P	+	1	0	DPP10	116242352	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.710000	0.74670	2.724000	0.93272	0.655000	0.94253	CCC		0.448	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		11	64	0	0	0	1	0	11	64				
TBC1D22B	55633	broad.mit.edu	37	6	37250011	37250011	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:37250011C>T	ENST00000373491.3	+	4	618	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	158							Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			ACTCCCTCTCCGGCCCATCAT	0.537																																						ENST00000373491.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15						c.(472-474)Cgg>Tgg		TBC1 domain family, member 22B							102.0	95.0	97.0					6																	37250011		2203	4300	6503	SO:0001583	missense	55633					intracellular	Rab GTPase activator activity	g.chr6:37250011C>T	AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 197"""	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.472C>T	6.37:g.37250011C>T	ENSP00000362590:p.Arg158Trp						p.R158W	NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		4	618	+			158					A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Missense_Mutation	SNP	ENST00000373491.3	37	c.472C>T	CCDS4832.1	.	.	.	.	.	.	.	.	.	.	C	32	5.141433	0.94560	.	.	ENSG00000065491	ENST00000373491	T	0.15718	2.4	5.81	5.81	0.92471	.	0.129618	0.53938	D	0.000052	T	0.26304	0.0642	L	0.60455	1.87	0.80722	D	1	D	0.69078	0.997	P	0.57468	0.821	T	0.00266	-1.1864	10	0.48119	T	0.1	.	18.854	0.92244	0.0:1.0:0.0:0.0	.	158	Q9NU19	TB22B_HUMAN	W	158	ENSP00000362590:R158W	ENSP00000362590:R158W	R	+	1	2	TBC1D22B	37357989	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.654000	0.54453	2.746000	0.94184	0.655000	0.94253	CGG		0.537	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040402.1	NM_017772		13	61	0	0	0	1	0	13	61				
AKNA	80709	broad.mit.edu	37	9	117143419	117143419	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:117143419G>A	ENST00000307564.4	-	2	356	c.195C>T	c.(193-195)caC>caT	p.H65H	AKNA_ENST00000374088.3_Silent_p.H65H|AKNA_ENST00000312033.3_Silent_p.H65H	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	65					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGGGCGGCAGGTGCTGCTGGG	0.607																																						ENST00000307564.4																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						c.(193-195)caC>caT		AT-hook transcription factor							63.0	53.0	56.0					9																	117143419		2203	4300	6503	SO:0001819	synonymous_variant	80709				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr9:117143419G>A	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.195C>T	9.37:g.117143419G>A						AKNA_ENST00000312033.3_Silent_p.H65H|AKNA_ENST00000374088.3_Silent_p.H65H	p.H65H	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN			2	356	-			65					Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	ENST00000307564.4	37	c.195C>T	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	G	0.064	-1.217870	0.01542	.	.	ENSG00000106948	ENST00000394582	.	.	.	4.0	3.11	0.35812	.	.	.	.	.	T	0.22589	0.0545	.	.	.	0.20403	N	0.9999	.	.	.	.	.	.	T	0.20739	-1.0266	5	0.16420	T	0.52	-0.0898	7.7172	0.28710	0.1131:0.0:0.8869:0.0	.	.	.	.	S	64	.	ENSP00000378083:P64S	P	-	1	0	AKNA	116183240	0.571000	0.26659	0.035000	0.18076	0.067000	0.16453	1.389000	0.34453	1.294000	0.44707	0.561000	0.74099	CCT		0.607	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2	NM_030767		5	49	0	0	0	1	0	5	49				
COL2A1	1280	broad.mit.edu	37	12	48387816	48387816	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:48387816G>C	ENST00000380518.3	-	13	995	c.831C>G	c.(829-831)ttC>ttG	p.F277L	COL2A1_ENST00000337299.6_Missense_Mutation_p.F208L	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	277	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGTTCCTGGGAAACCACGAG	0.542																																						ENST00000380518.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(829-831)ttC>ttG		collagen, type II, alpha 1	Collagenase(DB00048)						166.0	170.0	168.0					12																	48387816		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48387816G>C	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.831C>G	12.37:g.48387816G>C	ENSP00000369889:p.Phe277Leu					COL2A1_ENST00000337299.6_Missense_Mutation_p.F208L	p.F277L	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			13	995	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	277			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.831C>G	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.810062	0.32053	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.93307	-3.2;-3.2	4.51	2.69	0.31865	.	0.000000	0.85682	D	0.000000	D	0.88047	0.6332	N	0.02181	-0.65	0.53688	D	0.999978	P;P	0.48089	0.884;0.905	D;D	0.68943	0.934;0.961	D	0.83462	0.0054	10	0.23891	T	0.37	.	8.0098	0.30347	0.268:0.0:0.732:0.0	.	208;277	P02458-1;P02458	.;CO2A1_HUMAN	L	277;208;208	ENSP00000369889:F277L;ENSP00000338213:F208L	ENSP00000338213:F208L	F	-	3	2	COL2A1	46674083	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.534000	0.60622	0.664000	0.31047	-0.136000	0.14681	TTC		0.542	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		46	224	0	0	0	1	0	46	224				
SMTNL1	219537	broad.mit.edu	37	11	57309018	57309018	+	5'Flank	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:57309018G>A	ENST00000399154.2	+	0	0				SMTNL1_ENST00000457912.1_Missense_Mutation_p.E14K|SMTNL1_ENST00000527972.1_5'Flank			A8MU46	SMTL1_HUMAN	smoothelin-like 1						negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						TTGCTCAGCAGAGGCCAGGGA	0.512																																						ENST00000457912.1																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						c.(40-42)Gag>Aag		smoothelin-like 1							108.0	114.0	112.0					11																	57309018		1984	4158	6142	SO:0001631	upstream_gene_variant	219537							g.chr11:57309018G>A	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46			11.37:g.57309018G>A	Exception_encountered						p.E14K			E9PPJ3	E9PPJ3_HUMAN			1	40	+			120						Missense_Mutation	SNP	ENST00000399154.2	37	c.40G>A		.	.	.	.	.	.	.	.	.	.	G	11.87	1.768648	0.31320	.	.	ENSG00000214872	ENST00000457912	D	0.93189	-3.18	4.07	0.99	0.19807	.	.	.	.	.	D	0.87916	0.6298	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.78532	-0.2168	8	0.62326	D	0.03	.	6.5433	0.22392	0.297:0.0:0.703:0.0	.	14	C9J621	.	K	14	ENSP00000406485:E14K	ENSP00000406485:E14K	E	+	1	0	SMTNL1	57065594	0.002000	0.14202	0.000000	0.03702	0.025000	0.11179	-0.159000	0.10056	0.227000	0.20999	0.650000	0.86243	GAG		0.512	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_166203		19	148	0	0	0	1	0	19	148				
CRYBA4	1413	broad.mit.edu	37	22	27024266	27024266	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr22:27024266G>A	ENST00000354760.3	+	5	350	c.315G>A	c.(313-315)tcG>tcA	p.S105S	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	105	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						ACCGTGACTCGAGGCTGACAA	0.567																																						ENST00000354760.3																			0				large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						c.(313-315)tcG>tcA		crystallin, beta A4							125.0	112.0	116.0					22																	27024266		2203	4300	6503	SO:0001819	synonymous_variant	1413				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	g.chr22:27024266G>A		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.315G>A	22.37:g.27024266G>A						CRYBA4_ENST00000466315.1_3'UTR	p.S105S	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN			5	350	+			105			Beta/gamma crystallin 'Greek key' 3.		Q4VB22|Q6ICE4	Silent	SNP	ENST00000354760.3	37	c.315G>A	CCDS13841.1																																																																																				0.567	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886		14	104	0	0	0	1	0	14	104				
MMGT1	93380	broad.mit.edu	37	X	135047200	135047200	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:135047200C>T	ENST00000305963.2	-	4	766	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	MMGT1_ENST00000433339.2_Missense_Mutation_p.E192K	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	127					magnesium ion transport (GO:0015693)	early endosome (GO:0005769)|ER membrane protein complex (GO:0072546)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|endometrium(1)|kidney(1)	3						CGCAGTGATTCGAGTTTTCGT	0.413																																						ENST00000305963.2																			0				cervix(1)|endometrium(1)|kidney(1)	3						c.(379-381)Gaa>Aaa		membrane magnesium transporter 1							173.0	162.0	166.0					X																	135047200		2203	4300	6503	SO:0001583	missense	93380					early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity	g.chrX:135047200C>T	AL157477	CCDS14653.1	Xq26.3	2012-05-23	2008-11-21	2008-11-21	ENSG00000169446	ENSG00000169446			28100	protein-coding gene	gene with protein product	"""ER membrane protein complex subunit 5"""		"""transmembrane protein 32"""	TMEM32		18057121, 22119785	Standard	NM_173470		Approved	EMC5	uc004ezi.1	Q8N4V1	OTTHUMG00000022499	ENST00000305963.2:c.379G>A	X.37:g.135047200C>T	ENSP00000306220:p.Glu127Lys					MMGT1_ENST00000433339.2_Missense_Mutation_p.E192K	p.E127K	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN			4	766	-			127					B2R625|B4DIY3|D3DWG7|Q5JPP7	Missense_Mutation	SNP	ENST00000305963.2	37	c.379G>A	CCDS14653.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323891	0.60634	.	.	ENSG00000169446	ENST00000305963;ENST00000433339	.	.	.	5.53	3.74	0.42951	.	0.048872	0.85682	D	0.000000	T	0.37544	0.1007	L	0.32530	0.975	0.43003	D	0.994521	B;B	0.34313	0.448;0.007	B;B	0.23716	0.048;0.001	T	0.39901	-0.9591	9	0.72032	D	0.01	.	11.4551	0.50176	0.0:0.8409:0.0:0.1591	.	192;127	Q8N4V1-2;Q8N4V1	.;MMGT1_HUMAN	K	127;192	.	ENSP00000306220:E127K	E	-	1	0	MMGT1	134874866	1.000000	0.71417	0.633000	0.29310	0.957000	0.61999	5.363000	0.66104	1.224000	0.43551	0.600000	0.82982	GAA		0.413	MMGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058453.3	NM_173470		31	256	0	0	0	1	0	31	256				
TKTL1	8277	broad.mit.edu	37	X	153555958	153555958	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:153555958G>T	ENST00000369915.3	+	11	1612	c.1423G>T	c.(1423-1425)Gac>Tac	p.D475Y	TKTL1_ENST00000217905.7_Missense_Mutation_p.D215Y|TKTL1_ENST00000482044.1_3'UTR|TKTL1_ENST00000369912.2_Missense_Mutation_p.D419Y	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	475					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)					CTGTGTCAGTGACAAGGTCAC	0.468																																						ENST00000369915.3																			0				NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34						c.(1423-1425)Gac>Tac		transketolase-like 1							139.0	115.0	123.0					X																	153555958		2203	4300	6503	SO:0001583	missense	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153555958G>T	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.1423G>T	X.37:g.153555958G>T	ENSP00000358931:p.Asp475Tyr					TKTL1_ENST00000482044.1_3'UTR|TKTL1_ENST00000217905.7_Missense_Mutation_p.D215Y|TKTL1_ENST00000369912.2_Missense_Mutation_p.D419Y	p.D475Y	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN			11	1612	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-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)		475					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Missense_Mutation	SNP	ENST00000369915.3	37	c.1423G>T	CCDS35448.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215851	0.58452	.	.	ENSG00000007350	ENST00000369915;ENST00000441970;ENST00000217905;ENST00000369912	T;T;T	0.78003	-1.14;-1.14;-1.14	4.66	3.8	0.43715	Transketolase, C-terminal (1);Transketolase, C-terminal/Pyruvate-ferredoxin oxidoreductase, domain II (1);Transketolase-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91321	0.7263	H	0.97491	4.015	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	P;D;D	0.97110	0.854;1.0;1.0	D	0.92362	0.5898	10	0.87932	D	0	-39.1794	10.865	0.46849	0.0961:0.0:0.9039:0.0	.	215;469;475	B7Z7M4;B7Z7I0;P51854	.;.;TKTL1_HUMAN	Y	475;436;215;419	ENSP00000358931:D475Y;ENSP00000217905:D215Y;ENSP00000358928:D419Y	ENSP00000217905:D215Y	D	+	1	0	TKTL1	153209152	1.000000	0.71417	0.181000	0.23098	0.538000	0.34931	8.729000	0.91490	0.970000	0.38263	0.436000	0.28706	GAC		0.468	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		21	131	1	0	1.50039e-11	1	1.60756e-11	21	131				
VPS13D	55187	broad.mit.edu	37	1	12418524	12418524	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:12418524G>A	ENST00000358136.3	+	50	10138	c.10008G>A	c.(10006-10008)atG>atA	p.M3336I	VPS13D_ENST00000356315.4_Missense_Mutation_p.M3311I	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCTGCACGATGAGAATCGGAA	0.488																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(10006-10008)atG>atA		vacuolar protein sorting 13 homolog D (S. cerevisiae)							95.0	96.0	95.0					1																	12418524		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12418524G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10008G>A	1.37:g.12418524G>A	ENSP00000350854:p.Met3336Ile					VPS13D_ENST00000356315.4_Missense_Mutation_p.M3311I	p.M3336I	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	50	10138	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3335						Missense_Mutation	SNP	ENST00000358136.3	37	c.10008G>A	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858028	0.71834	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.32023	1.47;1.47	6.16	6.16	0.99307	Vacuolar protein sorting-associated protein (1);	0.000000	0.85682	D	0.000000	T	0.29158	0.0725	L	0.45051	1.395	0.80722	D	1	B;B	0.27450	0.039;0.179	B;B	0.27076	0.059;0.076	T	0.05852	-1.0860	10	0.12766	T	0.61	.	19.0403	0.92995	0.0:0.0:1.0:0.0	.	3311;3335	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	I	3311;3336	ENSP00000348666:M3311I;ENSP00000350854:M3336I	ENSP00000348666:M3311I	M	+	3	0	VPS13D	12341111	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	ATG		0.488	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		16	110	0	0	0	1	0	16	110				
CCDC7	79741	broad.mit.edu	37	10	32751975	32751975	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr10:32751975G>A	ENST00000362006.5	+	6	1051	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	CCDC7_ENST00000277657.6_Missense_Mutation_p.E170K|CCDC7_ENST00000545067.1_Missense_Mutation_p.E170K|CCDC7_ENST00000539197.1_Missense_Mutation_p.E170K|CCDC7_ENST00000537047.1_Missense_Mutation_p.E170K|CCDC7_ENST00000535327.1_Missense_Mutation_p.E170K	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	170										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TCAGATGGAAGAAGTAAGTCT	0.264																																						ENST00000545067.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14						c.(508-510)Gaa>Aaa		coiled-coil domain containing 7							71.0	70.0	70.0					10																	32751975		2203	4300	6503	SO:0001583	missense	221016							g.chr10:32751975G>A	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.508G>A	10.37:g.32751975G>A	ENSP00000355078:p.Glu170Lys					CCDC7_ENST00000277657.6_Missense_Mutation_p.E170K|CCDC7_ENST00000537047.1_Missense_Mutation_p.E170K|CCDC7_ENST00000535327.1_Missense_Mutation_p.E170K|CCDC7_ENST00000362006.5_Missense_Mutation_p.E170K|CCDC7_ENST00000539197.1_Missense_Mutation_p.E170K	p.E170K			Q96M83	CCDC7_HUMAN			6	804	+		Breast(68;0.000207)|Prostate(175;0.0107)	170					Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	ENST00000362006.5	37	c.508G>A	CCDS7173.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083891	0.55861	.	.	ENSG00000216937	ENST00000324147;ENST00000277657;ENST00000362006;ENST00000545067;ENST00000539197;ENST00000537047;ENST00000535327	T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1	4.99	4.07	0.47477	.	.	.	.	.	T	0.52208	0.1720	L	0.36672	1.1	0.31408	N	0.675804	P;P	0.46142	0.873;0.873	B;P	0.47206	0.412;0.541	T	0.59289	-0.7482	9	0.72032	D	0.01	-9.4424	8.6275	0.33899	0.1046:0.0:0.8954:0.0	.	170;170	A6YT98;Q96M83	.;CCDC7_HUMAN	K	175;170;170;170;170;170;170	ENSP00000277657:E170K;ENSP00000355078:E170K;ENSP00000439930:E170K;ENSP00000441041:E170K;ENSP00000440632:E170K;ENSP00000442531:E170K	ENSP00000277657:E170K	E	+	1	0	CCDC7	32791981	1.000000	0.71417	1.000000	0.80357	0.240000	0.25518	2.103000	0.41806	2.466000	0.83321	0.591000	0.81541	GAA		0.264	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023		6	37	0	0	0	1	0	6	37				
SEMA6D	80031	broad.mit.edu	37	15	48063756	48063756	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr15:48063756G>A	ENST00000316364.5	+	19	3435	c.2996G>A	c.(2995-2997)gGa>gAa	p.G999E	SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G937E|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G937E|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G980E|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G937E|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G943E|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G924E|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G999E|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G956E	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	999					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AACCGTGGAGGATATATGCCC	0.483																																						ENST00000316364.5																			0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(2995-2997)gGa>gAa		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							108.0	105.0	106.0					15																	48063756		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063756G>A	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2996G>A	15.37:g.48063756G>A	ENSP00000324857:p.Gly999Glu					SEMA6D_ENST00000389432.2_Missense_Mutation_p.G956E|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G980E|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G943E|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G937E|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G999E|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G937E|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G924E|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G937E	p.G999E	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	3435	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	999					A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.2996G>A	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.844800	0.71603	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.16897	2.31;2.38;2.38;2.34;2.31;2.31;2.31;2.32	5.8	5.8	0.92144	.	0.115723	0.56097	D	0.000025	T	0.28797	0.0714	L	0.28274	0.84	0.80722	D	1	D;B;P;D	0.62365	0.963;0.231;0.589;0.991	P;B;B;P	0.58820	0.595;0.22;0.175;0.846	T	0.01165	-1.1431	10	0.66056	D	0.02	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	924;943;999;937	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	E	937;999;999;980;956;943;937;924	ENSP00000442040:G937E;ENSP00000446152:G999E;ENSP00000324857:G999E;ENSP00000374084:G980E;ENSP00000374083:G956E;ENSP00000346786:G943E;ENSP00000350770:G937E;ENSP00000374079:G924E	ENSP00000324857:G999E	G	+	2	0	SEMA6D	45851048	1.000000	0.71417	0.952000	0.39060	0.900000	0.52787	5.170000	0.64990	2.758000	0.94735	0.563000	0.77884	GGA		0.483	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		15	113	0	0	0	1	0	15	113				
KCNJ4	3761	broad.mit.edu	37	22	38824115	38824115	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr22:38824115C>T	ENST00000303592.3	-	2	281	c.23G>A	c.(22-24)gGc>gAc	p.G8D	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	8					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GTGGGCCTGGCCGTTGCGGCT	0.657																																						ENST00000303592.3																			0				endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(22-24)gGc>gAc		potassium inwardly-rectifying channel, subfamily J, member 4							189.0	172.0	178.0					22																	38824115		2203	4299	6502	SO:0001583	missense	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38824115C>T	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.23G>A	22.37:g.38824115C>T	ENSP00000306497:p.Gly8Asp						p.G8D	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN			2	281	-	Melanoma(58;0.0286)		8					Q14D44	Missense_Mutation	SNP	ENST00000303592.3	37	c.23G>A	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251905	0.59212	.	.	ENSG00000168135	ENST00000303592	D	0.89415	-2.51	4.4	4.4	0.53042	.	0.157281	0.22830	U	0.055117	D	0.92580	0.7643	M	0.76838	2.35	0.53005	D	0.999963	D	0.63880	0.993	P	0.54401	0.751	D	0.93281	0.6660	10	0.52906	T	0.07	.	17.4411	0.87565	0.0:1.0:0.0:0.0	.	8	P48050	IRK4_HUMAN	D	8	ENSP00000306497:G8D	ENSP00000306497:G8D	G	-	2	0	KCNJ4	37154061	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.571000	0.82399	2.182000	0.69389	0.555000	0.69702	GGC		0.657	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		7	476	0	0	0	1	0	7	476				
ROCK1	6093	broad.mit.edu	37	18	18600179	18600179	+	Missense_Mutation	SNP	T	T	A	rs45449301		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr18:18600179T>A	ENST00000399799.2	-	12	2234	c.1294A>T	c.(1294-1296)Atc>Ttc	p.I432F		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	432	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AGCTTATAGATTGTTTTTTGC	0.264																																						ENST00000399799.1																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16						c.(1294-1296)Atc>Ttc		Rho-associated, coiled-coil containing protein kinase 1							69.0	64.0	66.0					18																	18600179		2202	4292	6494	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18600179T>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1294A>T	18.37:g.18600179T>A	ENSP00000382697:p.Ile432Phe						p.I432F	NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN			12	2234	-	Melanoma(1;0.165)		432			Interaction with FHOD1.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.1294A>T	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	28.2	4.896680	0.91962	.	.	ENSG00000067900	ENST00000399799	D	0.83075	-1.68	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.84415	0.5467	M	0.70595	2.14	0.80722	D	1	P	0.49961	0.93	P	0.44732	0.459	D	0.85921	0.1446	10	0.52906	T	0.07	.	16.1429	0.81539	0.0:0.0:0.0:1.0	.	432	Q13464	ROCK1_HUMAN	F	432	ENSP00000382697:I432F	ENSP00000382697:I432F	I	-	1	0	ROCK1	16854177	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.942000	0.56614	2.209000	0.71365	0.460000	0.39030	ATC		0.264	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		7	64	0	0	0	1	0	7	64				
MAGEA3	4102	broad.mit.edu	37	X	151935675	151935675	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:151935675G>A	ENST00000393902.3	-	3	1059	c.492C>T	c.(490-492)atC>atT	p.I164I	MAGEA3_ENST00000370278.3_Silent_p.I164I			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	164	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCAGCTCGATGCCAAAGA	0.532																																						ENST00000393902.3																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15						c.(490-492)atC>atT		melanoma antigen family A, 3							120.0	109.0	113.0					X																	151935675		2202	4293	6495	SO:0001819	synonymous_variant	4102							g.chrX:151935675G>A		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.492C>T	X.37:g.151935675G>A						MAGEA3_ENST00000370278.3_Silent_p.I164I	p.I164I			P43357	MAGA3_HUMAN			3	1059	-	Acute lymphoblastic leukemia(192;6.56e-05)		164			MAGE.		Q6FHI6	Silent	SNP	ENST00000393902.3	37	c.492C>T	CCDS14715.1																																																																																				0.532	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		6	214	0	0	0	1	0	6	214				
GRIK2	2898	broad.mit.edu	37	6	102516358	102516358	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:102516358G>C	ENST00000421544.1	+	16	3189	c.2699G>C	c.(2698-2700)aGg>aCg	p.R900T	GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369134.4_Missense_Mutation_p.R851T|GRIK2_ENST00000413795.1_3'UTR|GRIK2_ENST00000369137.3_Missense_Mutation_p.R824T	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	900					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AACGACAGAAGGTTGCCAGGT	0.443																																						ENST00000421544.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2698-2700)aGg>aCg		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						87.0	78.0	81.0					6																	102516358		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102516358G>C		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2699G>C	6.37:g.102516358G>C	ENSP00000397026:p.Arg900Thr					GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369134.4_Missense_Mutation_p.R851T|GRIK2_ENST00000369137.3_Missense_Mutation_p.R824T|GRIK2_ENST00000413795.1_3'UTR	p.R900T	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	16	3189	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	900					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.2699G>C	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.353018	0.61293	.	.	ENSG00000164418	ENST00000421544;ENST00000369137;ENST00000369134	T;T;T	0.12569	2.67;2.83;2.7	5.58	5.58	0.84498	.	0.041694	0.85682	D	0.000000	T	0.12390	0.0301	M	0.64997	1.995	0.51767	D	0.99993	P	0.41420	0.749	B	0.38880	0.284	T	0.02196	-1.1197	10	0.72032	D	0.01	.	19.5786	0.95455	0.0:0.0:1.0:0.0	.	900	Q13002	GRIK2_HUMAN	T	900;824;851	ENSP00000397026:R900T;ENSP00000358133:R824T;ENSP00000358130:R851T	ENSP00000358130:R851T	R	+	2	0	GRIK2	102623051	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.444000	0.97578	2.635000	0.89317	0.462000	0.41574	AGG		0.443	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			6	64	0	0	0	1	0	6	64				
FBXO39	162517	broad.mit.edu	37	17	6683808	6683808	+	Silent	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:6683808C>T	ENST00000321535.4	+	2	751	c.621C>T	c.(619-621)caC>caT	p.H207H		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	207										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TCAGCCATCACCTTGCTGTCT	0.493																																						ENST00000321535.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						c.(619-621)caC>caT		F-box protein 39							81.0	75.0	77.0					17																	6683808		2203	4300	6503	SO:0001819	synonymous_variant	162517							g.chr17:6683808C>T	BC034782	CCDS11082.1	17p13.2	2014-01-21			ENSG00000177294	ENSG00000177294		"""F-boxes /  ""other"""""	28565	protein-coding gene	gene with protein product		609106				12477932	Standard	NM_153230		Approved	MGC35179, Fbx39, CT144	uc010vtg.2	Q8N4B4	OTTHUMG00000102062	ENST00000321535.4:c.621C>T	17.37:g.6683808C>T							p.H207H	NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN			2	751	+			207						Silent	SNP	ENST00000321535.4	37	c.621C>T	CCDS11082.1																																																																																				0.493	FBXO39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219866.2	NM_153230		4	58	0	0	0	1	0	4	58				
SEMA4A	64218	broad.mit.edu	37	1	156126262	156126262	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:156126262C>T	ENST00000368285.3	+	3	464	c.197C>T	c.(196-198)aCt>aTt	p.T66I	SEMA4A_ENST00000355014.2_Missense_Mutation_p.T66I|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_5'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.T66I|SEMA4A_ENST00000368284.1_5'UTR	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	66	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GATTTTGACACTCTGCTCCTG	0.537																																						ENST00000368285.3																			0				breast(1)|ovary(2)|skin(2)	5						c.(196-198)aCt>aTt		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A							114.0	97.0	103.0					1																	156126262		2203	4300	6503	SO:0001583	missense	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156126262C>T	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.197C>T	1.37:g.156126262C>T	ENSP00000357268:p.Thr66Ile					SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368284.1_5'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.T66I|SEMA4A_ENST00000355014.2_Missense_Mutation_p.T66I|SEMA4A_ENST00000368286.2_5'UTR	p.T66I	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN			3	464	+	Hepatocellular(266;0.158)		66			Sema.		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	ENST00000368285.3	37	c.197C>T	CCDS1132.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.516988	0.44763	.	.	ENSG00000196189	ENST00000435124;ENST00000355014;ENST00000368285;ENST00000368283;ENST00000544376;ENST00000438830;ENST00000368282	T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85	4.83	1.57	0.23409	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.197605	0.41001	N	0.000974	T	0.03053	0.0090	L	0.52266	1.64	0.58432	D	0.999999	B	0.14805	0.011	B	0.21151	0.033	T	0.26573	-1.0099	10	0.24483	T	0.36	.	4.0411	0.09751	0.1651:0.5323:0.0:0.3026	.	66	Q9H3S1	SEM4A_HUMAN	I	66;66;66;28;28;66;66	ENSP00000401391:T66I;ENSP00000347117:T66I;ENSP00000357268:T66I;ENSP00000392865:T66I;ENSP00000357265:T66I	ENSP00000347117:T66I	T	+	2	0	SEMA4A	154392886	0.104000	0.21937	0.997000	0.53966	0.964000	0.63967	0.881000	0.28173	0.514000	0.28300	0.467000	0.42956	ACT		0.537	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		26	116	0	0	0	1	0	26	116				
EDAR	10913	broad.mit.edu	37	2	109513507	109513507	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:109513507G>A	ENST00000258443.2	-	12	1633	c.1203C>T	c.(1201-1203)atC>atT	p.I401I	EDAR_ENST00000409271.1_Silent_p.I433I|EDAR_ENST00000376651.1_Silent_p.I433I	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	401	Death.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTGCCGTGCTGATGCGGTCAA	0.572																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(1297-1299)atC>atT		ectodysplasin A receptor							108.0	84.0	92.0					2																	109513507		2203	4300	6503	SO:0001819	synonymous_variant	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109513507G>A	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.1203C>T	2.37:g.109513507G>A						EDAR_ENST00000376651.1_Silent_p.I433I|EDAR_ENST00000258443.2_Silent_p.I401I	p.I433I			Q9UNE0	EDAR_HUMAN			12	1742	-			401					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Silent	SNP	ENST00000258443.2	37	c.1299C>T	CCDS2081.1																																																																																				0.572	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			16	27	0	0	0	1	0	16	27				
MATR3	9782	broad.mit.edu	37	5	138657715	138657715	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:138657715G>A	ENST00000394805.3	+	10	2066	c.1731G>A	c.(1729-1731)ctG>ctA	p.L577L	MATR3_ENST00000509990.1_Silent_p.L577L|MATR3_ENST00000502499.1_Silent_p.L239L|MATR3_ENST00000503811.1_Silent_p.L289L|MATR3_ENST00000502929.1_Silent_p.L577L|MATR3_ENST00000510056.1_Silent_p.L577L|MATR3_ENST00000394800.2_Silent_p.L577L|MATR3_ENST00000504203.1_Silent_p.L239L|MATR3_ENST00000361059.2_Silent_p.L577L	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	577					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AACTGGTTCTGAGGGTATGTA	0.338																																						ENST00000394800.2																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1729-1731)ctG>ctA		matrin 3							130.0	129.0	129.0					5																	138657715		2203	4300	6503	SO:0001819	synonymous_variant	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138657715G>A	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.1731G>A	5.37:g.138657715G>A						MATR3_ENST00000504203.1_Silent_p.L239L|MATR3_ENST00000394805.3_Silent_p.L577L|MATR3_ENST00000502499.1_Silent_p.L239L|MATR3_ENST00000509990.1_Silent_p.L577L|MATR3_ENST00000361059.2_Silent_p.L577L|MATR3_ENST00000510056.1_Silent_p.L577L|MATR3_ENST00000503811.1_Silent_p.L289L|MATR3_ENST00000502929.1_Silent_p.L577L	p.L577L			P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		14	2280	+			577					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Silent	SNP	ENST00000394805.3	37	c.1731G>A	CCDS4210.1																																																																																				0.338	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		13	75	0	0	0	1	0	13	75				
GPR155	151556	broad.mit.edu	37	2	175337792	175337792	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:175337792C>T	ENST00000392552.2	-	3	999	c.761G>A	c.(760-762)gGa>gAa	p.G254E	GPR155_ENST00000392551.2_Missense_Mutation_p.G254E|GPR155_ENST00000295500.4_Missense_Mutation_p.G254E	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	254					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TAGGGCTGATCCAGAAAAAGA	0.368																																						ENST00000392552.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						c.(760-762)gGa>gAa		G protein-coupled receptor 155							68.0	71.0	70.0					2																	175337792		2203	4300	6503	SO:0001583	missense	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175337792C>T	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.761G>A	2.37:g.175337792C>T	ENSP00000376335:p.Gly254Glu					GPR155_ENST00000392551.2_Missense_Mutation_p.G254E|GPR155_ENST00000295500.4_Missense_Mutation_p.G254E	p.G254E	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN			3	999	-			254					B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	Missense_Mutation	SNP	ENST00000392552.2	37	c.761G>A	CCDS2259.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727214	0.89390	.	.	ENSG00000163328	ENST00000392552;ENST00000392551;ENST00000295500	T;T;T	0.50548	0.74;0.74;0.74	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.69269	0.3092	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71192	-0.4665	10	0.72032	D	0.01	-12.7778	19.4842	0.95022	0.0:1.0:0.0:0.0	.	254	Q7Z3F1	GP155_HUMAN	E	254	ENSP00000376335:G254E;ENSP00000376334:G254E;ENSP00000295500:G254E	ENSP00000295500:G254E	G	-	2	0	GPR155	175046038	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.995000	0.70631	2.577000	0.86979	0.655000	0.94253	GGA		0.368	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	NM_152529		17	123	0	0	0	1	0	17	123				
GPR52	9293	broad.mit.edu	37	1	174417581	174417581	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:174417581C>G	ENST00000367685.2	+	1	370	c.332C>G	c.(331-333)tCa>tGa	p.S111*	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000367689.3_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	111					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						GTCCACGAGTCATTGACTTGC	0.423																																					Ovarian(92;924 1390 1930 16467 40583)	ENST00000367685.2																			0				breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						c.(331-333)tCa>tGa		G protein-coupled receptor 52							218.0	216.0	216.0					1																	174417581		2203	4300	6503	SO:0001587	stop_gained	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174417581C>G	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.332C>G	1.37:g.174417581C>G	ENSP00000356658:p.Ser111*					RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000357444.6_Intron	p.S111*	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN			1	370	+			111					O75654|Q4VBL6|Q6ISM0	Nonsense_Mutation	SNP	ENST00000367685.2	37	c.332C>G	CCDS30941.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498920	0.85069	.	.	ENSG00000203737	ENST00000367685	.	.	.	5.74	5.74	0.90152	.	0.093799	0.44285	D	0.000469	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-6.646	19.9403	0.97159	0.0:1.0:0.0:0.0	.	.	.	.	X	111	.	ENSP00000356658:S111X	S	+	2	0	GPR52	172684204	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.461000	0.80834	2.712000	0.92718	0.650000	0.86243	TCA		0.423	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		21	315	0	0	0	1	0	21	315				
ICA1	3382	broad.mit.edu	37	7	8257989	8257989	+	Silent	SNP	G	G	A	rs371492455		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:8257989G>A	ENST00000402384.3	-	6	791	c.525C>T	c.(523-525)gaC>gaT	p.D175D	ICA1_ENST00000265577.7_Silent_p.D174D|ICA1_ENST00000401396.1_Silent_p.D163D|ICA1_ENST00000396675.3_Silent_p.D175D|ICA1_ENST00000422063.2_Silent_p.D175D|ICA1_ENST00000476942.1_5'Flank|ICA1_ENST00000406470.2_Silent_p.D175D|ICA1_ENST00000407906.1_Silent_p.D175D			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	175	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CCTGAGACACGTCCTTCATCC	0.502													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20193	0.0		0.0	False		,,,				2504	0.0					ENST00000402384.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23						c.(523-525)gaC>gaT		islet cell autoantigen 1, 69kDa							217.0	191.0	200.0					7																	8257989		2203	4300	6503	SO:0001819	synonymous_variant	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8257989G>A		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.525C>T	7.37:g.8257989G>A						ICA1_ENST00000401396.1_Silent_p.D163D|ICA1_ENST00000422063.2_Silent_p.D175D|ICA1_ENST00000406470.2_Silent_p.D175D|ICA1_ENST00000265577.7_Silent_p.D174D|ICA1_ENST00000396675.3_Silent_p.D175D|ICA1_ENST00000407906.1_Silent_p.D175D	p.D175D			Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	6	791	-		Ovarian(82;0.0612)	175			AH.		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Silent	SNP	ENST00000402384.3	37	c.525C>T	CCDS34602.1																																																																																				0.502	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		38	91	0	0	0	1	0	38	91				
ACRC	93953	broad.mit.edu	37	X	70823738	70823738	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:70823738C>T	ENST00000373695.1	+	7	1148	c.611C>T	c.(610-612)tCa>tTa	p.S204L	ACRC_ENST00000373696.3_Missense_Mutation_p.S204L			Q96QF7	ACRC_HUMAN	acidic repeat containing	204	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGTGATGATTCATCCGACGAC	0.498																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(610-612)tCa>tTa		acidic repeat containing							327.0	264.0	285.0					X																	70823738		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70823738C>T	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.611C>T	X.37:g.70823738C>T	ENSP00000362799:p.Ser204Leu					ACRC_ENST00000373696.3_Missense_Mutation_p.S204L	p.S204L			Q96QF7	ACRC_HUMAN			7	1148	+	Renal(35;0.156)		204			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.611C>T	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	C	7.949	0.744392	0.15710	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.39056	1.1;1.1	.	.	.	.	.	.	.	.	T	0.16257	0.0391	N	0.08118	0	0.09310	N	1	P	0.38110	0.618	B	0.25759	0.063	T	0.10154	-1.0642	7	0.51188	T	0.08	.	.	.	.	.	204	Q96QF7	ACRC_HUMAN	L	204	ENSP00000362800:S204L;ENSP00000362799:S204L	ENSP00000362799:S204L	S	+	2	0	ACRC	70740463	0.000000	0.05858	0.062000	0.19696	0.062000	0.15995	0.154000	0.16343	0.080000	0.16959	0.081000	0.15443	TCA		0.498	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			71	397	0	0	0	1	0	71	397				
ANGPTL1	9068	broad.mit.edu	37	1	178834309	178834309	+	Silent	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:178834309C>T	ENST00000234816.2	-	3	1050	c.603G>A	c.(601-603)ttG>ttA	p.L201L	RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Silent_p.L201L|RALGPS2_ENST00000367635.3_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	201					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						AAAATATCCTCAAGCACTGTT	0.463																																						ENST00000234816.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						c.(601-603)ttG>ttA		angiopoietin-like 1							120.0	104.0	109.0					1																	178834309		2203	4300	6503	SO:0001819	synonymous_variant	9068					extracellular space	receptor binding	g.chr1:178834309C>T	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.603G>A	1.37:g.178834309C>T						RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Silent_p.L201L|RALGPS2_ENST00000367635.3_Intron	p.L201L	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN			3	1050	-			201					Q5T5Z5	Silent	SNP	ENST00000234816.2	37	c.603G>A	CCDS1327.1																																																																																				0.463	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		5	214	0	0	0	1	0	5	214				
EBF1	1879	broad.mit.edu	37	5	158522676	158522676	+	Silent	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:158522676C>T	ENST00000313708.6	-	4	645	c.363G>A	c.(361-363)agG>agA	p.R121R	EBF1_ENST00000380654.4_Silent_p.R121R|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.R121R	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	121					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTGCTCCGTCCTTATCCCTA	0.453			T	HMGA2	lipoma																																	ENST00000313708.6				Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(361-363)agG>agA		early B-cell factor 1							59.0	60.0	60.0					5																	158522676		2203	4300	6503	SO:0001819	synonymous_variant	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158522676C>T	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.363G>A	5.37:g.158522676C>T						EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.R121R|EBF1_ENST00000380654.4_Silent_p.R121R	p.R121R	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	645	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	121					Q8IW11	Silent	SNP	ENST00000313708.6	37	c.363G>A	CCDS4343.1																																																																																				0.453	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		10	42	0	0	0	1	0	10	42				
ZNF567	163081	broad.mit.edu	37	19	37211354	37211354	+	Silent	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:37211354C>G	ENST00000536254.2	+	6	1950	c.1728C>G	c.(1726-1728)ctC>ctG	p.L576L	ZNF567_ENST00000585696.1_Silent_p.L545L|ZNF567_ENST00000360729.4_Silent_p.L545L|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Silent_p.L545L|ZNF567_ENST00000392163.2_Silent_p.L545L			Q8N184	ZN567_HUMAN	zinc finger protein 567	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGTCATATCTCATTCATCATC	0.413																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1633-1635)ctC>ctG		zinc finger protein 567							61.0	64.0	63.0					19																	37211354		2203	4300	6503	SO:0001819	synonymous_variant	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37211354C>G	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1728C>G	19.37:g.37211354C>G						ZNF567_ENST00000392163.2_Silent_p.L545L|ZNF567_ENST00000360729.4_Silent_p.L545L|ZNF567_ENST00000588311.1_Silent_p.L545L|ZNF567_ENST00000536254.2_Silent_p.L576L|ZNF850_ENST00000589390.1_Intron	p.L545L			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2865	+	Esophageal squamous(110;0.198)		576					B3KX49|Q6N044	Silent	SNP	ENST00000536254.2	37	c.1635C>G																																																																																					0.413	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		12	87	0	0	0	1	0	12	87				
GIPR	2696	broad.mit.edu	37	19	46181398	46181398	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:46181398G>A	ENST00000590918.1	+	12	1165	c.1066G>A	c.(1066-1068)Gtg>Atg	p.V356M	GIPR_ENST00000263281.3_Missense_Mutation_p.V356M|GIPR_ENST00000304207.8_Missense_Mutation_p.V320M	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	356					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CCACGAGGTGGTGTTTGCTCC	0.672																																						ENST00000590918.1																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12						c.(1066-1068)Gtg>Atg		gastric inhibitory polypeptide receptor							24.0	23.0	23.0					19																	46181398		2203	4300	6503	SO:0001583	missense	2696				generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane		g.chr19:46181398G>A		CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.1066G>A	19.37:g.46181398G>A	ENSP00000467494:p.Val356Met					GIPR_ENST00000304207.8_Missense_Mutation_p.V320M|GIPR_ENST00000263281.3_Missense_Mutation_p.V356M	p.V356M	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)	12	1165	+		Ovarian(192;0.051)|all_neural(266;0.112)	356					B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	ENST00000590918.1	37	c.1066G>A	CCDS12671.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395335	0.83011	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	T;T	0.49139	0.79;0.79	4.19	4.19	0.49359	GPCR, family 2-like (1);	0.000000	0.41823	D	0.000807	T	0.67088	0.2856	M	0.75777	2.31	0.43734	D	0.996222	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;1.0;0.99	T	0.70019	-0.4987	10	0.51188	T	0.08	.	14.0553	0.64764	0.0:0.0:1.0:0.0	.	320;356;356	B7WP14;P48546;P48546-2	.;GIPR_HUMAN;.	M	356;320	ENSP00000263281:V356M;ENSP00000305321:V320M	ENSP00000263281:V356M	V	+	1	0	GIPR	50873238	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.099000	0.50267	2.162000	0.67917	0.313000	0.20887	GTG		0.672	GIPR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459640.1			10	27	0	0	0	1	0	10	27				
ZHX1	11244	broad.mit.edu	37	8	124267234	124267234	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr8:124267234G>A	ENST00000522655.1	-	3	1493	c.953C>T	c.(952-954)tCt>tTt	p.S318F	ZHX1_ENST00000522595.1_5'Flank|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000395571.3_Missense_Mutation_p.S318F|ZHX1_ENST00000297857.2_Missense_Mutation_p.S318F			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	318	Required for dimerization.|Required for interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGCTTGAGCAGAAAGAACTGT	0.413																																						ENST00000395571.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(952-954)tCt>tTt		zinc fingers and homeoboxes 1							209.0	212.0	211.0					8																	124267234		2203	4300	6503	SO:0001583	missense	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124267234G>A	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.953C>T	8.37:g.124267234G>A	ENSP00000428821:p.Ser318Phe					ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.S318F|ZHX1_ENST00000522655.1_Missense_Mutation_p.S318F	p.S318F	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1570	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		318			Required for dimerization.|Required for interaction with NFYA.		Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	c.953C>T	CCDS6342.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204785	0.79127	.	.	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	D;D;D	0.97016	-4.21;-4.21;-4.21	5.8	5.8	0.92144	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.173402	0.52532	D	0.000076	D	0.97760	0.9265	.	.	.	0.80722	D	1	D	0.61080	0.989	P	0.58331	0.837	D	0.98096	1.0412	9	0.87932	D	0	-14.6656	20.0499	0.97621	0.0:0.0:1.0:0.0	.	318	Q9UKY1	ZHX1_HUMAN	F	318	ENSP00000297857:S318F;ENSP00000378938:S318F;ENSP00000428821:S318F	ENSP00000297857:S318F	S	-	2	0	ZHX1	124336415	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.738000	0.93877	0.555000	0.69702	TCT		0.413	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			38	347	0	0	0	1	0	38	347				
SPRY2	10253	broad.mit.edu	37	13	80911079	80911079	+	Silent	SNP	T	T	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr13:80911079T>C	ENST00000377102.1	-	2	1739	c.762A>G	c.(760-762)tcA>tcG	p.S254S	SPRY2_ENST00000540649.1_Silent_p.S254S|SPRY2_ENST00000377104.3_Silent_p.S254S			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	254	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		CACCCATGGCTGACCATCGTG	0.473																																						ENST00000377102.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12						c.(760-762)tcA>tcG		sprouty homolog 2 (Drosophila)							144.0	121.0	129.0					13																	80911079		2203	4300	6503	SO:0001819	synonymous_variant	10253				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity	g.chr13:80911079T>C	AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158			11270	protein-coding gene	gene with protein product		602466	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005842		Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.762A>G	13.37:g.80911079T>C						SPRY2_ENST00000540649.1_Silent_p.S254S|SPRY2_ENST00000377104.3_Silent_p.S254S	p.S254S			O43597	SPY2_HUMAN		GBM - Glioblastoma multiforme(99;0.0318)	2	1739	-	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)	254			Cys-rich.|SPR.		B2R9J9|Q5T6Z7	Silent	SNP	ENST00000377102.1	37	c.762A>G	CCDS9463.1																																																																																				0.473	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1			10	68	0	0	0	1	0	10	68				
TTC14	151613	broad.mit.edu	37	3	180324050	180324050	+	Silent	SNP	C	C	T	rs201415238	byFrequency	TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr3:180324050C>T	ENST00000296015.4	+	8	1071	c.939C>T	c.(937-939)atC>atT	p.I313I	TTC14_ENST00000382584.4_Silent_p.I313I|TTC14_ENST00000412756.2_Silent_p.I313I	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	313							RNA binding (GO:0003723)			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTGTGAAGATCGGAGTTGACT	0.323													C|||	3	0.000599042	0.0	0.0043	5008	,	,		19318	0.0		0.0	False		,,,				2504	0.0					ENST00000412756.2																			0				endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(937-939)atC>atT		tetratricopeptide repeat domain 14							148.0	142.0	144.0					3																	180324050		2203	4300	6503	SO:0001819	synonymous_variant	151613						RNA binding	g.chr3:180324050C>T	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.939C>T	3.37:g.180324050C>T						TTC14_ENST00000382584.4_Silent_p.I313I|TTC14_ENST00000296015.4_Silent_p.I313I	p.I313I	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		8	1008	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		313					G5E9X0|Q6UWJ7|Q8TF22	Silent	SNP	ENST00000296015.4	37	c.939C>T	CCDS3237.1																																																																																				0.323	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		8	140	0	0	0	1	0	8	140				
OR10G3	26533	broad.mit.edu	37	14	22038630	22038630	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:22038630G>A	ENST00000303532.1	-	1	245	c.246C>T	c.(244-246)ctC>ctT	p.L82L		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		AGTTCATCATGAGGCGAGGGA	0.502																																						ENST00000303532.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15						c.(244-246)ctC>ctT		olfactory receptor, family 10, subfamily G, member 3							63.0	60.0	61.0					14																	22038630		2203	4300	6503	SO:0001819	synonymous_variant	26533				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22038630G>A		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"""GPCR / Class A : Olfactory receptors"""	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.246C>T	14.37:g.22038630G>A							p.L82L	NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN		GBM - Glioblastoma multiforme(265;0.0139)	1	245	-	all_cancers(95;0.000987)		82					Q6IET7|Q96R77	Silent	SNP	ENST00000303532.1	37	c.246C>T	CCDS32046.1																																																																																				0.502	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			6	41	0	0	0	1	0	6	41				
TP53	7157	broad.mit.edu	37	17	7578262	7578262	+	Missense_Mutation	SNP	C	C	G	rs483352697		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:7578262C>G	ENST00000269305.4	-	6	776	c.587G>C	c.(586-588)cGa>cCa	p.R196P	TP53_ENST00000445888.2_Missense_Mutation_p.R196P|TP53_ENST00000359597.4_Missense_Mutation_p.R196P|TP53_ENST00000420246.2_Missense_Mutation_p.R196P|TP53_ENST00000455263.2_Missense_Mutation_p.R196P|TP53_ENST00000413465.2_Missense_Mutation_p.R196P|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196P(18)|p.0?(8)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196Q(3)|p.R103P(2)|p.R64P(2)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.R196L(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCCTTCCACTCGGATAAGATG	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		51	Substitution - Missense(26)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Deletion - Frameshift(1)|Complex - frameshift(1)	p.R196P(18)|p.0?(8)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196Q(3)|p.R103P(2)|p.R64P(2)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.R196L(1)|p.P59_E66>Q(1)	lung(11)|breast(9)|biliary_tract(5)|skin(5)|pancreas(5)|bone(4)|central_nervous_system(3)|stomach(2)|large_intestine(2)|urinary_tract(2)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM984587	TP53	M		c.(586-588)cGa>cCa	Other conserved DNA damage response genes	tumor protein p53							104.0	93.0	96.0					17																	7578262		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578262C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.587G>C	17.37:g.7578262C>G	ENSP00000269305:p.Arg196Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Missense_Mutation_p.R196P|TP53_ENST00000455263.2_Missense_Mutation_p.R196P|TP53_ENST00000359597.4_Missense_Mutation_p.R196P|TP53_ENST00000445888.2_Missense_Mutation_p.R196P|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R196P	p.R196P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	719	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.587G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030593	0.54790	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.41	4.43	0.53597	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	M	0.91872	3.25	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;0.995;1.0;0.999;0.999;1.0	D	0.96402	0.9297	10	0.87932	D	0	-19.9531	13.7077	0.62651	0.1553:0.8447:0.0:0.0	.	157;196;196;103;196;196;196	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	196;196;196;196;196;196;185;103;64;103;64	ENSP00000410739:R196P;ENSP00000352610:R196P;ENSP00000269305:R196P;ENSP00000398846:R196P;ENSP00000391127:R196P;ENSP00000391478:R196P;ENSP00000425104:R64P;ENSP00000423862:R103P	ENSP00000269305:R196P	R	-	2	0	TP53	7518987	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	7.775000	0.85489	1.410000	0.46936	0.655000	0.94253	CGA		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		34	26	0	0	0	1	0	34	26				
CLEC12B	387837	broad.mit.edu	37	12	10167981	10167981	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:10167981G>A	ENST00000338896.5	+	4	668	c.540G>A	c.(538-540)gtG>gtA	p.V180V	CLEC1B_ENST00000428126.2_5'Flank|RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000396502.1_Silent_p.V180V	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	180	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|large_intestine(2)|lung(5)	9						CCACCCTAGTGAAGATAGACA	0.363																																						ENST00000396502.1																			0				central_nervous_system(2)|large_intestine(2)|lung(5)	9						c.(538-540)gtG>gtA		C-type lectin domain family 12, member B							93.0	98.0	96.0					12																	10167981		2203	4300	6503	SO:0001819	synonymous_variant	387837					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10167981G>A	AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"""C-type lectin domain containing"""	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.540G>A	12.37:g.10167981G>A						RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000338896.5_Silent_p.V180V	p.V180V	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN			4	668	+			180			C-type lectin.		Q6UWF2|Q6ZRG0	Silent	SNP	ENST00000338896.5	37	c.540G>A	CCDS44830.1																																																																																				0.363	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	NM_205852		9	77	0	0	0	1	0	9	77				
SLC6A19	340024	broad.mit.edu	37	5	1216992	1216992	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:1216992G>A	ENST00000304460.10	+	8	1161	c.1105G>A	c.(1105-1107)Gcc>Acc	p.A369T		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	369					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCGGTGCAACGCCTCCGACCC	0.617																																						ENST00000304460.10																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1105-1107)Gcc>Acc		solute carrier family 6 (neutral amino acid transporter), member 19							169.0	156.0	161.0					5																	1216992		2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1216992G>A	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1105G>A	5.37:g.1216992G>A	ENSP00000305302:p.Ala369Thr						p.A369T	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		8	1161	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		369					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.1105G>A	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687777	0.29962	.	.	ENSG00000174358	ENST00000304460	T	0.73897	-0.79	4.85	2.97	0.34412	.	0.859121	0.10605	N	0.655202	T	0.55016	0.1894	N	0.19112	0.55	0.09310	N	1	B	0.26363	0.147	B	0.26202	0.067	T	0.41698	-0.9494	10	0.24483	T	0.36	.	3.8146	0.08811	0.241:0.0:0.5744:0.1846	.	369	Q695T7	S6A19_HUMAN	T	369	ENSP00000305302:A369T	ENSP00000305302:A369T	A	+	1	0	SLC6A19	1269992	0.000000	0.05858	0.008000	0.14137	0.005000	0.04900	0.018000	0.13422	1.035000	0.39972	0.491000	0.48974	GCC		0.617	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		82	164	0	0	0	1	0	82	164				
GANAB	23193	broad.mit.edu	37	11	62400972	62400972	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:62400972T>C	ENST00000356638.3	-	6	591	c.575A>G	c.(574-576)gAc>gGc	p.D192G	GANAB_ENST00000346178.4_Missense_Mutation_p.D214G|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000534779.1_Missense_Mutation_p.D100G|GANAB_ENST00000540933.1_Missense_Mutation_p.D95G	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	192					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	CTCAGCTGGGTCTTTTGATCC	0.622																																					Melanoma(23;1005 1074 15747 18937)	ENST00000346178.4																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						c.(640-642)gAc>gGc		glucosidase, alpha; neutral AB							83.0	78.0	80.0					11																	62400972		2202	4299	6501	SO:0001583	missense	23193				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	g.chr11:62400972T>C	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.575A>G	11.37:g.62400972T>C	ENSP00000349053:p.Asp192Gly					GANAB_ENST00000534779.1_Missense_Mutation_p.D100G|GANAB_ENST00000540933.1_Missense_Mutation_p.D95G|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000356638.3_Missense_Mutation_p.D192G	p.D214G	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN			7	656	-			192					A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	37	c.641A>G	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	T	13.50	2.257084	0.39896	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933;ENST00000525994	D;D;D;D;T	0.88509	-2.34;-2.28;-2.39;-2.31;1.1	5.33	5.33	0.75918	Glycoside hydrolase-type carbohydrate-binding (1);	3.093650	0.00541	N	0.000224	D	0.82549	0.5061	N	0.08118	0	0.46078	D	0.998853	B;B;B;B	0.24426	0.028;0.029;0.0;0.103	B;B;B;B	0.23574	0.008;0.009;0.001;0.047	T	0.59134	-0.7511	10	0.54805	T	0.06	-22.9107	11.6275	0.51153	0.0:0.0:0.0:1.0	.	78;100;192;214	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	G	214;192;100;95;100	ENSP00000340466:D214G;ENSP00000349053:D192G;ENSP00000435306:D100G;ENSP00000442962:D95G;ENSP00000434805:D100G	ENSP00000340466:D214G	D	-	2	0	GANAB	62157548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.432000	0.52824	2.237000	0.73441	0.460000	0.39030	GAC		0.622	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334		5	86	0	0	0	1	0	5	86				
KLKB1	3818	broad.mit.edu	37	4	187177145	187177145	+	Splice_Site	SNP	G	G	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr4:187177145G>C	ENST00000264690.6	+	13	1676		c.e13-1		KLKB1_ENST00000513864.1_Splice_Site	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTATGTTTCAGAATTCCAAAA	0.338																																						ENST00000264690.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40						c.e13-1		kallikrein B, plasma (Fletcher factor) 1							48.0	50.0	50.0					4																	187177145		2203	4300	6503	SO:0001630	splice_region_variant	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187177145G>C	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1490-1G>C	4.37:g.187177145G>C						KLKB1_ENST00000513864.1_Splice_Site		NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	13	1676	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)						A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Splice_Site	SNP	ENST00000264690.6	37		CCDS34120.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152053	0.78001	.	.	ENSG00000164344	ENST00000511608;ENST00000264690;ENST00000513864;ENST00000418715	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9804	0.92754	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KLKB1	187414139	1.000000	0.71417	0.993000	0.49108	0.965000	0.64279	5.474000	0.66781	2.729000	0.93468	0.563000	0.77884	.		0.338	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892	Intron	20	24	0	0	0	1	0	20	24				
TRAPPC13	80006	broad.mit.edu	37	5	64931138	64931138	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:64931138G>A	ENST00000399438.3	+	2	402	c.57G>A	c.(55-57)ctG>ctA	p.L19L	TRAPPC13_ENST00000505553.1_Silent_p.L19L|TRAPPC13_ENST00000438419.2_Silent_p.L19L|TRAPPC13_ENST00000545191.1_Silent_p.L19L|TRAPPC13_ENST00000231526.4_Silent_p.L19L	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2	A5PLN9	TPC13_HUMAN	trafficking protein particle complex 13	19																	TGATGCGGCTGACTAAGCCTA	0.363																																						ENST00000399438.3																			0											c.(55-57)ctG>ctA		trafficking protein particle complex 13							93.0	83.0	86.0					5																	64931138		1886	4102	5988	SO:0001819	synonymous_variant	80006							g.chr5:64931138G>A		CCDS47221.1, CCDS47222.1, CCDS47223.1, CCDS58950.1	5q12.3	2013-01-31	2013-01-24	2013-01-24	ENSG00000113597	ENSG00000113597			25828	protein-coding gene	gene with protein product	"""Trs65-related"""		"""chromosome 5 open reading frame 44"""	C5orf44		12477932	Standard	NM_024941		Approved	FLJ13611, FLJ26957, MGC48585	uc010iwu.1	A5PLN9	OTTHUMG00000163649	ENST00000399438.3:c.57G>A	5.37:g.64931138G>A						TRAPPC13_ENST00000438419.2_Silent_p.L19L|TRAPPC13_ENST00000231526.4_Silent_p.L19L|TRAPPC13_ENST00000505553.1_Silent_p.L19L|TRAPPC13_ENST00000545191.1_Silent_p.L19L	p.L19L	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2					2	402	+								Q17RZ9|Q49A23|Q4JHG0|Q6MZG4|Q8TCM2|Q9H8I3	Silent	SNP	ENST00000399438.3	37	c.57G>A	CCDS47222.1																																																																																				0.363	TRAPPC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370113.1	NM_024941		11	47	0	0	0	1	0	11	47				
ATP6V0C	527	broad.mit.edu	37	16	2569686	2569686	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr16:2569686C>G	ENST00000330398.4	+	3	642	c.408C>G	c.(406-408)atC>atG	p.I136M	AMDHD2_ENST00000302956.4_5'Flank|AMDHD2_ENST00000413459.3_5'Flank|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.I93M|RP11-20I23.1_ENST00000564543.1_3'UTR|ATP6V0C_ENST00000564973.1_Missense_Mutation_p.I93M|ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000293971.6_5'Flank	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	136					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				TGATTCTCATCTTCGCCGAGG	0.617																																						ENST00000330398.4																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(406-408)atC>atG		ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c							62.0	60.0	61.0					16																	2569686		2198	4300	6498	SO:0001583	missense	527				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport	endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding	g.chr16:2569686C>G	M62762	CCDS10470.1	16p13.3	2010-04-21	2002-08-29	2002-05-10	ENSG00000185883	ENSG00000185883	3.6.3.14	"""ATPases / V-type"""	855	protein-coding gene	gene with protein product		108745	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD"""	ATPL, ATP6C, ATP6L		1709739, 8250920	Standard	NM_001694		Approved	VATL, Vma3	uc021tav.1	P27449	OTTHUMG00000128865	ENST00000330398.4:c.408C>G	16.37:g.2569686C>G	ENSP00000329757:p.Ile136Met					RP11-20I23.1_ENST00000564543.1_3'UTR|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.I93M|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000564973.1_Missense_Mutation_p.I93M	p.I136M	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN			3	642	+		Ovarian(90;0.17)	136					Q6FH26	Missense_Mutation	SNP	ENST00000330398.4	37	c.408C>G	CCDS10470.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351789	0.41700	.	.	ENSG00000185883	ENST00000330398	T	0.49139	0.79	4.23	3.28	0.37604	ATPase, F0/V0 complex, subunit C (3);	0.000000	0.85682	D	0.000000	T	0.78033	0.4220	H	0.98721	4.31	0.53688	D	0.999973	D	0.89917	1.0	D	0.87578	0.998	T	0.80690	-0.1270	10	0.87932	D	0	-8.8455	7.738	0.28825	0.0:0.8059:0.0:0.1941	.	136	P27449	VATL_HUMAN	M	136	ENSP00000329757:I136M	ENSP00000329757:I136M	I	+	3	3	ATP6V0C	2509687	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	1.996000	0.40776	1.010000	0.39314	0.485000	0.47835	ATC		0.617	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250810.1	NM_001694		18	94	0	0	0	1	0	18	94				
SUV39H1	6839	broad.mit.edu	37	X	48565906	48565906	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:48565906G>A	ENST00000376687.3	+	6	1374	c.1184G>A	c.(1183-1185)cGg>cAg	p.R395Q	SUV39H1_ENST00000337852.6_Missense_Mutation_p.R406Q|SUV39H1_ENST00000453214.2_3'UTR|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000482260.1_3'UTR	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	395					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						CCTAAGAAGCGGGTCCGTATT	0.592																																						ENST00000376687.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(1183-1185)cGg>cAg		suppressor of variegation 3-9 homolog 1 (Drosophila)							98.0	79.0	86.0					X																	48565906		2203	4300	6503	SO:0001583	missense	6839				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	g.chrX:48565906G>A	AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.1184G>A	X.37:g.48565906G>A	ENSP00000365877:p.Arg395Gln					SUV39H1_ENST00000337852.6_Missense_Mutation_p.R406Q|SUV39H1_ENST00000482260.1_3'UTR|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_3'UTR	p.R395Q	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN			6	1374	+			395					B2R6E8|B4DST0|Q53G60|Q6FHK6	Missense_Mutation	SNP	ENST00000376687.3	37	c.1184G>A	CCDS14304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.2|25.2	4.610531|4.610531	0.87258|0.87258	.|.	.|.	ENSG00000101945|ENSG00000101945	ENST00000448548|ENST00000337852;ENST00000376687	.|D;D	.|0.94330	.|-3.4;-3.39	4.46|4.46	4.46|4.46	0.54185|0.54185	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	D|D	0.92378|0.92378	0.7581|0.7581	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	.|P;D	.|0.61080	.|0.771;0.989	.|B;P	.|0.45998	.|0.09;0.5	D|D	0.91315|0.91315	0.5077|0.5077	6|10	0.35671|0.32370	T|T	0.21|0.25	.|.	13.5816|13.5816	0.61907|0.61907	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|406;395	.|B4DST0;O43463	.|.;SUV91_HUMAN	R|Q	390|406;395	.|ENSP00000337976:R406Q;ENSP00000365877:R395Q	ENSP00000410043:G390R|ENSP00000337976:R406Q	G|R	+|+	1|2	0|0	SUV39H1|SUV39H1	48450850|48450850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.718000|0.718000	0.41266|0.41266	8.697000|8.697000	0.91307|0.91307	2.069000|2.069000	0.61940|0.61940	0.287000|0.287000	0.19450|0.19450	GGG|CGG		0.592	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173		17	113	0	0	0	1	0	17	113				
MAP3K8	1326	broad.mit.edu	37	10	30749638	30749638	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr10:30749638C>A	ENST00000263056.1	+	9	1973	c.1277C>A	c.(1276-1278)tCt>tAt	p.S426Y	MAP3K8_ENST00000542547.1_Missense_Mutation_p.S426Y|MAP3K8_ENST00000375321.1_Missense_Mutation_p.S426Y	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	426			Missing (in oncogenic form).		cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				TTTTCAGATTCTTCGTGCACA	0.438																																						ENST00000263056.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1276-1278)tCt>tAt		mitogen-activated protein kinase kinase kinase 8							56.0	51.0	52.0					10																	30749638		2203	4300	6503	SO:0001583	missense	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30749638C>A	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.1277C>A	10.37:g.30749638C>A	ENSP00000263056:p.Ser426Tyr					MAP3K8_ENST00000375321.1_Missense_Mutation_p.S426Y|MAP3K8_ENST00000542547.1_Missense_Mutation_p.S426Y	p.S426Y	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN			9	1973	+		Prostate(175;0.151)	426		Missing (in oncogenic form).			A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Missense_Mutation	SNP	ENST00000263056.1	37	c.1277C>A	CCDS7166.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390136	0.82902	.	.	ENSG00000107968	ENST00000375328;ENST00000263056;ENST00000542547;ENST00000375321	T;T;T	0.71817	-0.6;-0.6;-0.6	5.25	5.25	0.73442	Protein kinase-like domain (1);	0.164660	0.56097	D	0.000031	T	0.69305	0.3096	L	0.29908	0.895	0.80722	D	1	P	0.45348	0.856	P	0.47786	0.557	T	0.73694	-0.3902	10	0.72032	D	0.01	.	18.887	0.92383	0.0:1.0:0.0:0.0	.	426	P41279	M3K8_HUMAN	Y	426	ENSP00000263056:S426Y;ENSP00000443610:S426Y;ENSP00000364470:S426Y	ENSP00000263056:S426Y	S	+	2	0	MAP3K8	30789644	1.000000	0.71417	0.994000	0.49952	0.653000	0.38743	6.925000	0.75829	2.464000	0.83262	0.650000	0.86243	TCT		0.438	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204		8	35	1	0	0.000157383	1	0.000161599	8	35				
ZNF831	128611	broad.mit.edu	37	20	57767486	57767486	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr20:57767486G>A	ENST00000371030.2	+	1	1412	c.1412G>A	c.(1411-1413)cGc>cAc	p.R471H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	471							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R471L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGCCCCGTGCGCTCCACCTGG	0.672																																						ENST00000371030.2																			1	Substitution - Missense(1)	p.R471L(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(1411-1413)cGc>cAc		zinc finger protein 831							33.0	40.0	38.0					20																	57767486		2006	4167	6173	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767486G>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1412G>A	20.37:g.57767486G>A	ENSP00000360069:p.Arg471His						p.R471H	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	1412	+	all_lung(29;0.0085)		471					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1412G>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175411	0.38413	.	.	ENSG00000124203	ENST00000371030	T	0.04917	3.53	5.21	0.192	0.15134	.	.	.	.	.	T	0.10809	0.0264	L	0.51422	1.61	0.09310	N	1	D	0.89917	1.0	P	0.57846	0.828	T	0.23726	-1.0180	9	0.66056	D	0.02	-3.2429	1.08	0.01641	0.1844:0.3448:0.2795:0.1913	.	471	Q5JPB2	ZN831_HUMAN	H	471	ENSP00000360069:R471H	ENSP00000360069:R471H	R	+	2	0	ZNF831	57200881	0.002000	0.14202	0.009000	0.14445	0.388000	0.30384	1.463000	0.35277	0.159000	0.19401	0.655000	0.94253	CGC		0.672	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		6	48	0	0	0	1	0	6	48				
USP28	57646	broad.mit.edu	37	11	113711342	113711342	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:113711342C>T	ENST00000003302.4	-	5	580	c.512G>A	c.(511-513)tGt>tAt	p.C171Y	USP28_ENST00000542033.1_5'UTR|USP28_ENST00000537706.1_Missense_Mutation_p.C171Y|USP28_ENST00000545540.1_Missense_Mutation_p.C46Y|USP28_ENST00000260188.5_Missense_Mutation_p.C171Y	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	171	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACTAAACCAACATGTATTGCC	0.373																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(511-513)tGt>tAt		ubiquitin specific peptidase 28							132.0	117.0	122.0					11																	113711342		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113711342C>T	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.512G>A	11.37:g.113711342C>T	ENSP00000003302:p.Cys171Tyr					USP28_ENST00000545540.1_Missense_Mutation_p.C46Y|USP28_ENST00000537706.1_Missense_Mutation_p.C171Y|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000260188.5_Missense_Mutation_p.C171Y	p.C171Y	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	5	580	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	171					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.512G>A	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026927	0.54683	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000537706;ENST00000537642	T;T;T;D;T	0.93247	0.13;0.13;0.13;-3.19;1.72	5.76	5.76	0.90799	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.97698	0.9245	H	0.96142	3.775	0.80722	D	1	D;B;P;B	0.57257	0.979;0.372;0.879;0.254	P;B;P;B	0.60012	0.867;0.199;0.729;0.434	D	0.98476	1.0603	10	0.87932	D	0	-17.8926	19.5527	0.95328	0.0:1.0:0.0:0.0	.	171;46;171;171	B4E2Q2;B4E3L3;Q6NZX9;Q96RU2	.;.;.;UBP28_HUMAN	Y	171;171;46;171;99	ENSP00000003302:C171Y;ENSP00000260188:C171Y;ENSP00000444991:C46Y;ENSP00000445743:C171Y;ENSP00000440799:C99Y	ENSP00000003302:C171Y	C	-	2	0	USP28	113216552	1.000000	0.71417	0.938000	0.37757	0.715000	0.41141	7.174000	0.77620	2.706000	0.92434	0.591000	0.81541	TGT		0.373	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			11	47	0	0	0	1	0	11	47				
CGNL1	84952	broad.mit.edu	37	15	57753888	57753888	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr15:57753888A>C	ENST00000281282.5	+	8	2279	c.2201A>C	c.(2200-2202)cAg>cCg	p.Q734P		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	734						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GAGCTCTTACAGGCAAAACAG	0.517																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(2200-2202)cAg>cCg		cingulin-like 1							112.0	103.0	106.0					15																	57753888		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57753888A>C	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2201A>C	15.37:g.57753888A>C	ENSP00000281282:p.Gln734Pro						p.Q734P	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	8	2279	+			734					Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.2201A>C	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615360	0.66672	.	.	ENSG00000128849	ENST00000281282	T	0.44482	0.92	5.42	5.42	0.78866	.	0.422888	0.20343	N	0.094194	T	0.48150	0.1484	M	0.70275	2.135	0.52501	D	0.999954	P	0.50272	0.933	B	0.43386	0.418	T	0.55724	-0.8096	10	0.62326	D	0.03	-23.8105	15.4553	0.75308	1.0:0.0:0.0:0.0	.	734	Q0VF96	CGNL1_HUMAN	P	734	ENSP00000281282:Q734P	ENSP00000281282:Q734P	Q	+	2	0	CGNL1	55541180	1.000000	0.71417	0.774000	0.31636	0.436000	0.31835	6.620000	0.74224	2.063000	0.61619	0.368000	0.22195	CAG		0.517	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		26	114	0	0	0	1	0	26	114				
TLK2	11011	broad.mit.edu	37	17	60663567	60663567	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:60663567G>A	ENST00000326270.9	+	17	1774	c.1506G>A	c.(1504-1506)gaG>gaA	p.E502E	TLK2_ENST00000343388.7_Silent_p.E448E|TLK2_ENST00000542523.1_Silent_p.E448E|TLK2_ENST00000582809.1_Silent_p.E331E|TLK2_ENST00000346027.5_Silent_p.E480E	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	502	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GGAGAGATGAGAAAAAGGAGA	0.323																																						ENST00000582809.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						c.(991-993)gaG>gaA		tousled-like kinase 2							37.0	37.0	37.0					17																	60663567		2202	4299	6501	SO:0001819	synonymous_variant	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60663567G>A	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.1506G>A	17.37:g.60663567G>A						TLK2_ENST00000343388.7_Silent_p.E448E|TLK2_ENST00000326270.9_Silent_p.E502E|TLK2_ENST00000346027.5_Silent_p.E480E|TLK2_ENST00000542523.1_Silent_p.E448E	p.E331E			Q86UE8	TLK2_HUMAN			17	1696	+			502					D3DU07|Q9UKI7|Q9Y4F7	Silent	SNP	ENST00000326270.9	37	c.993G>A																																																																																					0.323	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		8	67	0	0	0	1	0	8	67				
FAM227B	196951	broad.mit.edu	37	15	49907342	49907342	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr15:49907342C>A	ENST00000299338.6	-	2	330	c.27G>T	c.(25-27)agG>agT	p.R9S	FAM227B_ENST00000558594.1_Missense_Mutation_p.R9S|FAM227B_ENST00000558862.1_5'UTR|FAM227B_ENST00000561064.1_Missense_Mutation_p.R9S|FAM227B_ENST00000560246.1_Missense_Mutation_p.R9S	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	9																	TGCTGCTCCTCCTTTGACATG	0.473																																						ENST00000299338.6																			0											c.(25-27)agG>agT		family with sequence similarity 227, member B							150.0	154.0	153.0					15																	49907342		2196	4295	6491	SO:0001583	missense	196951							g.chr15:49907342C>A		CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.27G>T	15.37:g.49907342C>A	ENSP00000299338:p.Arg9Ser					FAM227B_ENST00000560246.1_Missense_Mutation_p.R9S|FAM227B_ENST00000561064.1_Missense_Mutation_p.R9S|FAM227B_ENST00000558594.1_Missense_Mutation_p.R9S|FAM227B_ENST00000558862.1_5'UTR	p.R9S	NM_152647.2	NP_689860.2					2	330	-								Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	c.27G>T	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.335630	0.24253	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.0	0.979	0.19745	.	.	.	.	.	T	0.17109	0.0411	N	0.08118	0	0.09310	N	1	B;B	0.18310	0.027;0.027	B;B	0.16289	0.015;0.015	T	0.19679	-1.0298	8	0.59425	D	0.04	.	4.7146	0.12889	0.3836:0.5121:0.0:0.1043	.	9;9	Q96M60-2;Q96M60	.;CO033_HUMAN	S	9	.	ENSP00000299338:R9S	R	-	3	2	C15orf33	47694634	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.120000	0.10660	0.236000	0.21180	0.537000	0.68136	AGG		0.473	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647		24	134	1	0	4.72057e-08	1	4.9957e-08	24	134				
XPO4	64328	broad.mit.edu	37	13	21357969	21357969	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr13:21357969G>A	ENST00000255305.6	-	23	3419	c.3348C>T	c.(3346-3348)ctC>ctT	p.L1116L	XPO4_ENST00000400602.2_Silent_p.L1116L			Q9C0E2	XPO4_HUMAN	exportin 4	1116					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGCTTGCAGTGAGCTTGTTGA	0.433																																						ENST00000400602.2																			0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(3346-3348)ctC>ctT		exportin 4							155.0	147.0	150.0					13																	21357969		2033	4192	6225	SO:0001819	synonymous_variant	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21357969G>A	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.3348C>T	13.37:g.21357969G>A						XPO4_ENST00000255305.6_Silent_p.L1116L	p.L1116L	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	23	3383	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	1116					Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP	ENST00000255305.6	37	c.3348C>T	CCDS41872.1																																																																																				0.433	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	NM_022459		22	202	0	0	0	1	0	22	202				
CDC16	8881	broad.mit.edu	37	13	115028376	115028376	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr13:115028376T>C	ENST00000356221.3	+	16	1507	c.1399T>C	c.(1399-1401)Tac>Cac	p.Y467H	CDC16_ENST00000375310.1_Missense_Mutation_p.Y373H|CDC16_ENST00000375312.3_Missense_Mutation_p.Y322H|CDC16_ENST00000360383.3_Missense_Mutation_p.Y467H|CDC16_ENST00000252458.6_Missense_Mutation_p.Y322H|CDC16_ENST00000252457.5_Missense_Mutation_p.Y466H|CDC16_ENST00000375308.1_Missense_Mutation_p.Y373H			Q13042	CDC16_HUMAN	cell division cycle 16	467					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			GGCCTTGGATTACCACCGTCA	0.438																																						ENST00000360383.3																			0				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1399-1401)Tac>Cac		cell division cycle 16							203.0	183.0	190.0					13																	115028376		2203	4300	6503	SO:0001583	missense	8881				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	g.chr13:115028376T>C	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.1399T>C	13.37:g.115028376T>C	ENSP00000348554:p.Tyr467His					CDC16_ENST00000375310.1_Missense_Mutation_p.Y373H|CDC16_ENST00000375312.3_Missense_Mutation_p.Y322H|CDC16_ENST00000252457.5_Missense_Mutation_p.Y466H|CDC16_ENST00000356221.3_Missense_Mutation_p.Y467H|CDC16_ENST00000252458.6_Missense_Mutation_p.Y322H|CDC16_ENST00000375308.1_Missense_Mutation_p.Y373H	p.Y467H	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)		16	1597	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	467					A2A365|Q5T8C8|Q96AE6|Q9Y564	Missense_Mutation	SNP	ENST00000356221.3	37	c.1399T>C	CCDS9542.2	.	.	.	.	.	.	.	.	.	.	T	18.25	3.581702	0.65992	.	.	ENSG00000130177	ENST00000360383;ENST00000375312;ENST00000356221;ENST00000375310;ENST00000252457;ENST00000375308;ENST00000252458	T;T;T;T;T;T;T	0.77358	0.27;-1.09;0.27;0.27;0.27;0.27;-1.09	5.36	5.36	0.76844	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.88544	0.6465	M	0.82716	2.605	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.983;0.993;0.998	D	0.89558	0.3804	9	.	.	.	-18.9575	15.3452	0.74330	0.0:0.0:0.0:1.0	.	415;466;467	Q13042-3;Q13042-2;Q13042	.;.;CDC16_HUMAN	H	467;322;467;373;466;373;322	ENSP00000353549:Y467H;ENSP00000364461:Y322H;ENSP00000348554:Y467H;ENSP00000364459:Y373H;ENSP00000252457:Y466H;ENSP00000364457:Y373H;ENSP00000252458:Y322H	.	Y	+	1	0	CDC16	114046478	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	7.284000	0.78650	2.032000	0.59987	0.460000	0.39030	TAC		0.438	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		15	151	0	0	0	1	0	15	151				
BRSK1	84446	broad.mit.edu	37	19	55798463	55798463	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:55798463G>A	ENST00000309383.1	+	2	502	c.225G>A	c.(223-225)ctG>ctA	p.L75L	BRSK1_ENST00000590333.1_Silent_p.L91L|BRSK1_ENST00000585418.1_Silent_p.L75L	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AGTCGGTGCTGATGAAGGTGT	0.662																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(223-225)ctG>ctA		BR serine/threonine kinase 1							112.0	91.0	98.0					19																	55798463		2203	4300	6503	SO:0001819	synonymous_variant	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55798463G>A	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.225G>A	19.37:g.55798463G>A						BRSK1_ENST00000590333.1_Silent_p.L91L|BRSK1_ENST00000585418.1_Silent_p.L75L	p.L75L	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	2	502	+		Renal(1328;0.245)	75			Protein kinase.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Silent	SNP	ENST00000309383.1	37	c.225G>A	CCDS12921.1																																																																																				0.662	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		15	59	0	0	0	1	0	15	59				
DYNC1H1	1778	broad.mit.edu	37	14	102508995	102508995	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:102508995G>A	ENST00000360184.4	+	69	12587	c.12423G>A	c.(12421-12423)gcG>gcA	p.A4141A	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4141	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCTCCGTGCGGGCCGCATCT	0.587																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(12421-12423)gcG>gcA		dynein, cytoplasmic 1, heavy chain 1							78.0	66.0	70.0					14																	102508995		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102508995G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12423G>A	14.37:g.102508995G>A						RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	p.A4141A	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			69	12587	+			4141			AAA 6 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.12423G>A	CCDS9966.1																																																																																				0.587	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		6	60	0	0	0	1	0	6	60				
GNA14	9630	broad.mit.edu	37	9	80046346	80046346	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:80046346G>A	ENST00000341700.6	-	4	997	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	162					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						GTGGCGATGCGGTCAATGTCA	0.498																																						ENST00000341700.6																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						c.(484-486)Cgc>Tgc		guanine nucleotide binding protein (G protein), alpha 14							197.0	148.0	165.0					9																	80046346		2203	4300	6503	SO:0001583	missense	9630				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr9:80046346G>A	AF105201	CCDS6657.1	9q21	2008-05-23			ENSG00000156049	ENSG00000156049			4382	protein-coding gene	gene with protein product		604397				10191087, 17620339	Standard	NM_004297		Approved		uc004aku.3	O95837	OTTHUMG00000020058	ENST00000341700.6:c.484C>T	9.37:g.80046346G>A	ENSP00000365807:p.Arg162Cys					GNA14_ENST00000464095.1_5'UTR	p.R162C	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN			4	997	-			162					B1ALW3	Missense_Mutation	SNP	ENST00000341700.6	37	c.484C>T	CCDS6657.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317157	0.60524	.	.	ENSG00000156049	ENST00000341700	D	0.92099	-2.97	5.42	4.5	0.54988	G protein alpha subunit, helical insertion (2);	0.000000	0.85682	D	0.000000	D	0.97517	0.9187	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98869	1.0765	10	0.87932	D	0	.	15.2437	0.73490	0.0:0.0:0.8581:0.1419	.	162	O95837	GNA14_HUMAN	C	162	ENSP00000365807:R162C	ENSP00000365807:R162C	R	-	1	0	GNA14	79236166	1.000000	0.71417	0.995000	0.50966	0.308000	0.27856	5.649000	0.67936	1.378000	0.46305	0.655000	0.94253	CGC		0.498	GNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052759.1			12	74	0	0	0	1	0	12	74				
STOML3	161003	broad.mit.edu	37	13	39541122	39541122	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr13:39541122G>A	ENST00000379631.4	-	7	1060	c.716C>T	c.(715-717)gCt>gTt	p.A239V	STOML3_ENST00000423210.1_Missense_Mutation_p.A230V	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	239					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		GGGAGACTCAGCCAGCACCAT	0.468																																						ENST00000379631.4																			0				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11						c.(715-717)gCt>gTt		stomatin (EPB72)-like 3							84.0	79.0	80.0					13																	39541122		2203	4300	6503	SO:0001583	missense	161003					integral to membrane|plasma membrane		g.chr13:39541122G>A	BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.716C>T	13.37:g.39541122G>A	ENSP00000368952:p.Ala239Val					STOML3_ENST00000423210.1_Missense_Mutation_p.A230V	p.A239V	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)	7	1060	-		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)	239					B4E285|Q5JS35	Missense_Mutation	SNP	ENST00000379631.4	37	c.716C>T	CCDS9367.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477057	0.44044	.	.	ENSG00000133115	ENST00000379631;ENST00000423210	D;D	0.99574	-6.2;-6.2	5.46	4.56	0.56223	.	0.211356	0.48767	D	0.000172	D	0.99133	0.9701	M	0.86268	2.805	0.54753	D	0.999988	B;B	0.26400	0.148;0.148	B;B	0.31442	0.082;0.13	D	0.99864	1.1087	10	0.72032	D	0.01	-12.7588	14.4426	0.67327	0.0:0.1482:0.8518:0.0	.	230;239	B4E285;Q8TAV4	.;STML3_HUMAN	V	239;230	ENSP00000368952:A239V;ENSP00000401989:A230V	ENSP00000368952:A239V	A	-	2	0	STOML3	38439122	0.461000	0.25783	0.829000	0.32907	0.008000	0.06430	3.494000	0.53273	2.552000	0.86080	0.655000	0.94253	GCT		0.468	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2			4	66	0	0	0	1	0	4	66				
ACIN1	22985	broad.mit.edu	37	14	23548064	23548064	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr14:23548064C>T	ENST00000262710.1	-	7	2473	c.2146G>A	c.(2146-2148)Gaa>Aaa	p.E716K	ACIN1_ENST00000555352.1_5'UTR|ACIN1_ENST00000457657.1_Missense_Mutation_p.E676K|ACIN1_ENST00000555053.1_Missense_Mutation_p.E716K|ACIN1_ENST00000605057.1_Missense_Mutation_p.E658K	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	716					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ACATGCTTTTCAGCTGATTCA	0.532																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(2146-2148)Gaa>Aaa		apoptotic chromatin condensation inducer 1							106.0	84.0	92.0					14																	23548064		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23548064C>T	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2146G>A	14.37:g.23548064C>T	ENSP00000262710:p.Glu716Lys					ACIN1_ENST00000457657.1_Missense_Mutation_p.E676K|ACIN1_ENST00000605057.1_Missense_Mutation_p.E658K|ACIN1_ENST00000555053.1_Missense_Mutation_p.E716K|ACIN1_ENST00000555352.1_5'UTR	p.E716K	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	7	2473	-	all_cancers(95;1.36e-05)		716					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.2146G>A	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450485	0.63290	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.05447	3.44;3.44;3.48	6.07	5.17	0.71159	.	0.361775	0.20266	N	0.095776	T	0.05640	0.0148	L	0.29908	0.895	0.28585	N	0.909925	B;B;B	0.30406	0.167;0.104;0.278	B;B;B	0.28011	0.085;0.039;0.039	T	0.28332	-1.0047	10	0.16896	T	0.51	-0.9162	13.0777	0.59097	0.0:0.8325:0.1675:0.0	.	716;716;676	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	K	716;676;716	ENSP00000262710:E716K;ENSP00000405677:E676K;ENSP00000451328:E716K	ENSP00000262710:E716K	E	-	1	0	ACIN1	22617904	0.950000	0.32346	0.785000	0.31869	0.903000	0.53119	2.177000	0.42509	1.537000	0.49254	0.655000	0.94253	GAA		0.532	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		6	48	0	0	0	1	0	6	48				
ZNF711	7552	broad.mit.edu	37	X	84525922	84525922	+	Silent	SNP	T	T	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:84525922T>A	ENST00000373165.3	+	9	1680	c.1374T>A	c.(1372-1374)gcT>gcA	p.A458A	ZNF711_ENST00000395402.1_Silent_p.A466A|ZNF711_ENST00000360700.4_Silent_p.A504A|ZNF711_ENST00000542798.1_Silent_p.A300A|ZNF711_ENST00000276123.3_Silent_p.A458A	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	458					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						ACAGAGAGGCTAGTCCACTGA	0.383																																						ENST00000360700.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						c.(1510-1512)gcT>gcA		zinc finger protein 711							63.0	54.0	57.0					X																	84525922		2202	4299	6501	SO:0001819	synonymous_variant	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84525922T>A	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1374T>A	X.37:g.84525922T>A						ZNF711_ENST00000373165.3_Silent_p.A458A|ZNF711_ENST00000276123.3_Silent_p.A458A|ZNF711_ENST00000395402.1_Silent_p.A466A|ZNF711_ENST00000542798.1_Silent_p.A300A	p.A504A			Q9Y462	ZN711_HUMAN			10	2398	+			458					B4DSV4|Q6NX42|Q9Y4J6	Silent	SNP	ENST00000373165.3	37	c.1512T>A	CCDS35344.1																																																																																				0.383	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		8	35	0	0	0	1	0	8	35				
PCDHA6	56142	broad.mit.edu	37	5	140209710	140209710	+	Silent	SNP	G	G	A	rs541356864		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:140209710G>A	ENST00000529310.1	+	1	2148	c.2034G>A	c.(2032-2034)gcG>gcA	p.A678A	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	678	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAAAGGCGTCATCACGGG	0.677																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(2032-2034)gcG>gcA									38.0	44.0	42.0					5																	140209710		2199	4298	6497	SO:0001819	synonymous_variant	56142							g.chr5:140209710G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2034G>A	5.37:g.140209710G>A						PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.A678A	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2148	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.2034G>A	CCDS47281.1																																																																																				0.677	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		18	81	0	0	0	1	0	18	81				
UBBP4	23666	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T	rs570609187	byFrequency	TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:21730847G>T	ENST00000578713.1	+	1	153	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R50L|UBBP4_ENST00000584398.1_Intron					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522													.|||	3	0.000599042	0.0008	0.0	5008	,	,		21142	0.002		0.0	False		,,,				2504	0.0					ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(148-150)cGg>cTg																																						SO:0001583	missense	23666							g.chr17:21730847G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.149G>T	17.37:g.21730847G>T	ENSP00000464265:p.Arg50Leu					UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron	p.R50L							2	546	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.149G>T																																																																																					0.522	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	58	1	0	0.00909568	1	0.00912212	4	58				
BAI2	576	broad.mit.edu	37	1	32198168	32198168	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:32198168C>T	ENST00000373658.3	-	27	4011	c.3670G>A	c.(3670-3672)Gag>Aag	p.E1224K	BAI2_ENST00000398542.1_Missense_Mutation_p.E1124K|BAI2_ENST00000527361.1_Missense_Mutation_p.E1191K|BAI2_ENST00000398547.1_Missense_Mutation_p.E1157K|BAI2_ENST00000398538.1_Missense_Mutation_p.E1212K|BAI2_ENST00000398556.3_Missense_Mutation_p.E1139K|BAI2_ENST00000440175.2_Missense_Mutation_p.E833K|BAI2_ENST00000257070.4_Missense_Mutation_p.E1191K|BAI2_ENST00000373655.2_Missense_Mutation_p.E1224K|BAI2_ENST00000465256.1_5'UTR	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1224					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TCTTCGCTCTCATCAGCCCGG	0.667																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(3670-3672)Gag>Aag		brain-specific angiogenesis inhibitor 2							64.0	55.0	58.0					1																	32198168		2203	4300	6503	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32198168C>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.3670G>A	1.37:g.32198168C>T	ENSP00000362762:p.Glu1224Lys					BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000398538.1_Missense_Mutation_p.E1212K|BAI2_ENST00000373655.2_Missense_Mutation_p.E1224K|BAI2_ENST00000398547.1_Missense_Mutation_p.E1157K|BAI2_ENST00000440175.2_Missense_Mutation_p.E833K|BAI2_ENST00000398556.3_Missense_Mutation_p.E1139K|BAI2_ENST00000257070.4_Missense_Mutation_p.E1191K|BAI2_ENST00000398542.1_Missense_Mutation_p.E1124K|BAI2_ENST00000527361.1_Missense_Mutation_p.E1191K	p.E1224K	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	27	4011	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	1224					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.3670G>A	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	15.92	2.976011	0.53720	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.43688	1.27;1.78;0.94;0.94;1.27;1.27;1.27;1.27;0.97	4.85	4.85	0.62838	.	0.000000	0.42053	D	0.000761	T	0.40909	0.1136	L	0.44542	1.39	0.38376	D	0.945002	B;B;B;B;B;B;B	0.32101	0.336;0.356;0.088;0.243;0.336;0.243;0.243	B;B;B;B;B;B;B	0.36922	0.236;0.185;0.045;0.119;0.236;0.119;0.119	T	0.32534	-0.9903	10	0.24483	T	0.36	.	17.9505	0.89051	0.0:1.0:0.0:0.0	.	1191;1212;833;1139;1224;1224;1212	O60241-4;O60241-3;B4DKC3;A2A3C6;O60241-2;O60241;A2A3C2	.;.;.;.;.;BAI2_HUMAN;.	K	1139;1157;1224;1224;1124;1191;1191;833;1212	ENSP00000381564:E1139K;ENSP00000381555:E1157K;ENSP00000362762:E1224K;ENSP00000362759:E1224K;ENSP00000381550:E1124K;ENSP00000257070:E1191K;ENSP00000435397:E1191K;ENSP00000391071:E833K;ENSP00000381548:E1212K	ENSP00000257070:E1191K	E	-	1	0	BAI2	31970755	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.487000	0.81328	2.406000	0.81754	0.561000	0.74099	GAG		0.667	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		4	58	0	0	0	1	0	4	58				
LIG4	3981	broad.mit.edu	37	13	108863391	108863391	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr13:108863391C>T	ENST00000356922.4	-	2	498	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	LIG4_ENST00000442234.1_Missense_Mutation_p.E76K|LIG4_ENST00000405925.1_Missense_Mutation_p.E76K	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	76					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CTCTCTCTTTCTAGCTGAGGA	0.353								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(226-228)Gaa>Aaa	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							102.0	106.0	105.0					13																	108863391		2203	4300	6503	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108863391C>T	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.226G>A	13.37:g.108863391C>T	ENSP00000349393:p.Glu76Lys					LIG4_ENST00000405925.1_Missense_Mutation_p.E76K|LIG4_ENST00000442234.1_Missense_Mutation_p.E76K	p.E76K	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	498	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		76					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.226G>A	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669257	0.88348	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	T;T;T	0.18960	2.18;2.18;2.18	6.05	6.05	0.98169	DNA ligase, ATP-dependent, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	M	0.71581	2.175	0.80722	D	1	D	0.60160	0.987	D	0.67231	0.95	T	0.31998	-0.9923	10	0.62326	D	0.03	.	19.5914	0.95514	0.0:1.0:0.0:0.0	.	76	P49917	DNLI4_HUMAN	K	76	ENSP00000385955:E76K;ENSP00000402030:E76K;ENSP00000349393:E76K	ENSP00000349393:E76K	E	-	1	0	LIG4	107661392	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.424000	0.80242	2.875000	0.98604	0.643000	0.83706	GAA		0.353	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		18	151	0	0	0	1	0	18	151				
RBPJL	11317	broad.mit.edu	37	20	43945591	43945591	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr20:43945591C>A	ENST00000343694.3	+	12	1618	c.1546C>A	c.(1546-1548)Cag>Aag	p.Q516K	RBPJL_ENST00000372741.3_3'UTR|RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Missense_Mutation_p.Q515K	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	516					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CCTCTTCATCCAGACTTAGGC	0.706																																						ENST00000343694.3																			0				NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1546-1548)Cag>Aag		recombination signal binding protein for immunoglobulin kappa J region-like							37.0	47.0	44.0					20																	43945591		2203	4297	6500	SO:0001583	missense	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43945591C>A	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.1546C>A	20.37:g.43945591C>A	ENSP00000341243:p.Gln516Lys					RBPJL_ENST00000372743.1_Missense_Mutation_p.Q515K|RBPJL_ENST00000372741.3_3'UTR|RBPJL_ENST00000464504.1_3'UTR	p.Q516K	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN			12	1618	+		Myeloproliferative disorder(115;0.0122)	516					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	c.1546C>A	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030271	0.75504	.	.	ENSG00000124232	ENST00000372743;ENST00000343694	T;T	0.39229	1.09;1.09	5.07	5.07	0.68467	.	0.180246	0.36409	N	0.002611	T	0.36991	0.0987	L	0.51422	1.61	0.40998	D	0.984906	B	0.32245	0.361	B	0.21360	0.034	T	0.37033	-0.9723	10	0.56958	D	0.05	-7.6941	15.6743	0.77303	0.0:1.0:0.0:0.0	.	516	Q9UBG7	RBPJL_HUMAN	K	515;516	ENSP00000361828:Q515K;ENSP00000341243:Q516K	ENSP00000341243:Q516K	Q	+	1	0	RBPJL	43379005	1.000000	0.71417	0.992000	0.48379	0.805000	0.45488	5.743000	0.68655	2.362000	0.80069	0.456000	0.33151	CAG		0.706	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1	NM_014276		31	94	1	0	8.16721e-17	1	8.86065e-17	31	94				
CCDC67	159989	broad.mit.edu	37	11	93065448	93065448	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:93065448C>T	ENST00000298050.3	+	2	123	c.23C>T	c.(22-24)aCg>aTg	p.T8M	CCDC67_ENST00000530273.1_Missense_Mutation_p.T8M|CCDC67_ENST00000527307.1_Missense_Mutation_p.T8M|CCDC67_ENST00000530053.1_3'UTR	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	8					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GCCCATAATACGATGGGGTAA	0.323																																						ENST00000298050.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(22-24)aCg>aTg		coiled-coil domain containing 67							94.0	97.0	96.0					11																	93065448		1834	4069	5903	SO:0001583	missense	159989							g.chr11:93065448C>T	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.23C>T	11.37:g.93065448C>T	ENSP00000298050:p.Thr8Met					CCDC67_ENST00000527307.1_Missense_Mutation_p.T8M|CCDC67_ENST00000530273.1_Missense_Mutation_p.T8M|CCDC67_ENST00000530053.1_3'UTR	p.T8M	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN			2	123	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	8					Q8NEF1|Q96LL7	Missense_Mutation	SNP	ENST00000298050.3	37	c.23C>T	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594044	0.28445	.	.	ENSG00000165325	ENST00000534747;ENST00000530273;ENST00000298050;ENST00000532819;ENST00000527307	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	4.34	2.3	0.28687	.	.	.	.	.	T	0.16214	0.0390	L	0.36672	1.1	0.21020	N	0.999805	P;P	0.41345	0.746;0.567	B;B	0.34301	0.179;0.125	T	0.14671	-1.0464	9	0.59425	D	0.04	.	5.252	0.15527	0.0:0.7338:0.0:0.2662	.	8;8	Q05D60;E9PJR5	CCD67_HUMAN;.	M	8	ENSP00000432111:T8M;ENSP00000298050:T8M;ENSP00000434635:T8M;ENSP00000433002:T8M	ENSP00000298050:T8M	T	+	2	0	CCDC67	92705096	0.001000	0.12720	0.714000	0.30535	0.879000	0.50718	0.254000	0.18314	1.045000	0.40225	0.655000	0.94253	ACG		0.323	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		4	17	0	0	0	1	0	4	17				
PCDHA8	56140	broad.mit.edu	37	5	140222515	140222515	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:140222515G>A	ENST00000531613.1	+	1	1609	c.1609G>A	c.(1609-1611)Gcg>Acg	p.A537T	PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A537T|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGTGAGCGCGCGCGACGC	0.667																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1609-1611)Gcg>Acg									56.0	66.0	62.0					5																	140222515		2195	4269	6464	SO:0001583	missense	56140							g.chr5:140222515G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1609G>A	5.37:g.140222515G>A	ENSP00000434655:p.Ala537Thr					PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A537T|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	p.A537T	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1609	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1609G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308938	0.60305	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.75589	-0.95;-0.95	3.72	3.72	0.42706	Cadherin (5);Cadherin-like (1);	0.221619	0.22067	U	0.065096	D	0.91168	0.7218	H	0.98951	4.38	0.32785	N	0.501986	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.986	D	0.94377	0.7601	10	0.87932	D	0	.	12.6565	0.56790	0.0:0.0:0.8343:0.1657	.	537;537	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	T	537	ENSP00000434655:A537T;ENSP00000367363:A537T	ENSP00000367363:A537T	A	+	1	0	PCDHA8	140202699	1.000000	0.71417	1.000000	0.80357	0.066000	0.16364	9.262000	0.95591	1.790000	0.52503	0.306000	0.20318	GCG		0.667	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		27	155	0	0	0	1	0	27	155				
ITSN2	50618	broad.mit.edu	37	2	24522815	24522815	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:24522815C>T	ENST00000355123.4	-	12	1750	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	ITSN2_ENST00000361999.3_Missense_Mutation_p.R436Q|ITSN2_ENST00000406921.3_Missense_Mutation_p.R436Q	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	436					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTTCCTCTCGTTGTCTCTC	0.328																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(1306-1308)cGa>cAa		intersectin 2							161.0	147.0	152.0					2																	24522815		2203	4300	6503	SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24522815C>T	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1307G>A	2.37:g.24522815C>T	ENSP00000347244:p.Arg436Gln					ITSN2_ENST00000361999.3_Missense_Mutation_p.R436Q|ITSN2_ENST00000406921.3_Missense_Mutation_p.R436Q	p.R436Q	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			12	1750	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		436					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	ENST00000355123.4	37	c.1307G>A	CCDS1710.2	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369960	0.61624	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;D	0.82255	0.1;0.14;0.1;0.61;-1.59	5.76	4.88	0.63580	.	0.000000	0.33534	U	0.004810	T	0.79713	0.4493	L	0.59436	1.845	0.40818	D	0.983487	B;B;B;B	0.26258	0.145;0.015;0.145;0.09	B;B;B;B	0.15052	0.012;0.012;0.012;0.005	T	0.77493	-0.2567	10	0.41790	T	0.15	.	14.9016	0.70684	0.0:0.9304:0.0:0.0696	.	436;436;436;436	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	Q	436;436;436;460;436;461	ENSP00000354561:R436Q;ENSP00000347244:R436Q;ENSP00000370250:R436Q;ENSP00000384499:R436Q;ENSP00000391224:R461Q	ENSP00000347244:R436Q	R	-	2	0	ITSN2	24376319	0.951000	0.32395	0.981000	0.43875	0.986000	0.74619	2.458000	0.45014	1.584000	0.49913	0.591000	0.81541	CGA		0.328	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		5	108	0	0	0	1	0	5	108				
ELMO1	9844	broad.mit.edu	37	7	37382282	37382282	+	Missense_Mutation	SNP	C	C	T	rs146510671		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:37382282C>T	ENST00000310758.4	-	2	660	c.13G>A	c.(13-15)Gcg>Acg	p.A5T	ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T|ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	5					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)	p.A5T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ACGATGTCCGCGGGTGGCGGC	0.502																																						ENST00000310758.4																			1	Substitution - Missense(1)	p.A5T(1)	ovary(1)	breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(13-15)Gcg>Acg		engulfment and cell motility 1		C	THR/ALA,THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	116.0	121.0	119.0		13,13,13	4.0	0.0	7	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense,missense	ELMO1	NM_001206480.1,NM_001206482.1,NM_014800.10	58,58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign	5/728,5/728,5/728	37382282	2,13004	2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37382282C>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.13G>A	7.37:g.37382282C>T	ENSP00000312185:p.Ala5Thr					ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T|ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T	p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			2	660	-			5					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.13G>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.533964	0.64972	4.54E-4	0.0	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879;ENST00000453399;ENST00000445322	T;T;T;T;T;T;T	0.44881	2.53;2.53;2.53;1.53;1.52;0.94;0.91	4.94	4.03	0.46877	.	0.200167	0.41823	D	0.000804	T	0.27594	0.0678	N	0.19112	0.55	0.44323	D	0.997201	B	0.14012	0.009	B	0.14578	0.011	T	0.04635	-1.0937	10	0.25106	T	0.35	.	12.5184	0.56046	0.1731:0.8269:0.0:0.0	.	5	Q92556	ELMO1_HUMAN	T	5	ENSP00000312185:A5T;ENSP00000406952:A5T;ENSP00000394458:A5T;ENSP00000406610:A5T;ENSP00000416090:A5T;ENSP00000391734:A5T;ENSP00000397857:A5T	ENSP00000312185:A5T	A	-	1	0	ELMO1	37348807	0.961000	0.32948	0.033000	0.17914	0.945000	0.59286	2.373000	0.44266	1.166000	0.42689	0.655000	0.94253	GCG		0.502	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		25	175	0	0	0	1	0	25	175				
TRPM1	4308	broad.mit.edu	37	15	31324973	31324973	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr15:31324973G>A	ENST00000256552.6	-	22	3018	c.2871C>T	c.(2869-2871)atC>atT	p.I957I	RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Silent_p.I935I|TRPM1_ENST00000542188.1_Silent_p.I974I	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACCAGAAGATGATATCCACAC	0.483																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(2920-2922)atC>atT		transient receptor potential cation channel, subfamily M, member 1							145.0	140.0	142.0					15																	31324973		1988	4165	6153	SO:0001819	synonymous_variant	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31324973G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2871C>T	15.37:g.31324973G>A						TRPM1_ENST00000397795.2_Silent_p.I935I|RP11-348B17.1_ENST00000561299.1_RNA|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000256552.6_Silent_p.I957I	p.I974I	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	21	3235	-		all_lung(180;1.92e-11)	935						Silent	SNP	ENST00000256552.6	37	c.2922C>T	CCDS58346.1																																																																																				0.483	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		17	93	0	0	0	1	0	17	93				
VWF	7450	broad.mit.edu	37	12	6103696	6103696	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:6103696C>T	ENST00000261405.5	-	36	6395	c.6141G>A	c.(6139-6141)atG>atA	p.M2047I		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2047	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGACCTCATGCATGATGGCAC	0.468																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(6139-6141)atG>atA		von Willebrand factor	Antihemophilic Factor(DB00025)						337.0	248.0	278.0					12																	6103696		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6103696C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6141G>A	12.37:g.6103696C>T	ENSP00000261405:p.Met2047Ile						p.M2047I	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			36	6395	-			2047			VWFD 4.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.6141G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648801	0.47362	.	.	ENSG00000110799	ENST00000261405	T	0.58940	0.3	4.91	4.91	0.64330	von Willebrand factor, type D domain (3);	0.000000	0.53938	D	0.000047	T	0.66177	0.2763	M	0.66939	2.045	0.80722	D	1	P	0.48503	0.911	P	0.49752	0.621	T	0.70000	-0.4992	10	0.52906	T	0.07	.	17.1147	0.86685	0.0:1.0:0.0:0.0	.	2047	P04275	VWF_HUMAN	I	2047	ENSP00000261405:M2047I	ENSP00000261405:M2047I	M	-	3	0	VWF	5973957	1.000000	0.71417	0.985000	0.45067	0.542000	0.35054	4.374000	0.59543	2.288000	0.76882	0.655000	0.94253	ATG		0.468	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		13	84	0	0	0	1	0	13	84				
ARHGAP20	57569	broad.mit.edu	37	11	110450115	110450115	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:110450115C>G	ENST00000260283.4	-	16	3839	c.3555G>C	c.(3553-3555)agG>agC	p.R1185S	ARHGAP20_ENST00000527598.1_Missense_Mutation_p.R1149S|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.R1159S|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.R1159S|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.R1149S|ARHGAP20_ENST00000529591.1_Splice_Site|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.R1162S	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1185					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TGGTTAAATACCTGTCCTCAA	0.443																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(3553-3555)agG>agC		Rho GTPase activating protein 20							135.0	142.0	139.0					11																	110450115		2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110450115C>G	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.3555G>C	11.37:g.110450115C>G	ENSP00000260283:p.Arg1185Ser					ARHGAP20_ENST00000533353.1_Missense_Mutation_p.R1159S|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.R1149S|ARHGAP20_ENST00000529591.1_Splice_Site|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.R1162S|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.R1149S|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.R1159S	p.R1185S	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	16	3839	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	1185					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.3555G>C	CCDS31673.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.557|1.557	-0.537713|-0.537713	0.04082|0.04082	.|.	.|.	ENSG00000137727|ENSG00000137727	ENST00000529591|ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	.|T;T;T;T;T;T	.|0.09817	.|2.94;2.94;2.94;2.95;2.94;2.95	5.28|5.28	1.79|1.79	0.24919|0.24919	.|.	.|1.396820	.|0.04513	.|N	.|0.383136	.|T	.|0.09992	.|0.0245	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B;B	.|0.19200	.|0.02;0.034	.|B;B	.|0.22601	.|0.018;0.04	.|T	.|0.39251	.|-0.9623	.|10	.|0.56958	.|D	.|0.05	.|.	7.2172|7.2172	0.25967|0.25967	0.0:0.3754:0.0:0.6246|0.0:0.3754:0.0:0.6246	.|.	.|1185;1162	.|Q9P2F6;Q9P2F6-3	.|RHG20_HUMAN;.	.|S	-1|1185;1159;1162;1149;1159;1149	.|ENSP00000260283:R1185S;ENSP00000349660:R1159S;ENSP00000432076:R1162S;ENSP00000436319:R1149S;ENSP00000436522:R1159S;ENSP00000431399:R1149S	.|ENSP00000260283:R1185S	.|R	-|-	.|3	.|2	ARHGAP20|ARHGAP20	109955325|109955325	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.058000|0.058000	0.15608|0.15608	0.090000|0.090000	0.15025|0.15025	0.143000|0.143000	0.18926|0.18926	-0.302000|-0.302000	0.09304|0.09304	.|AGG		0.443	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		5	116	0	0	0	1	0	5	116				
TESPA1	9840	broad.mit.edu	37	12	55356450	55356450	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:55356450C>G	ENST00000449076.1	-	9	1364	c.1232G>C	c.(1231-1233)aGa>aCa	p.R411T	TESPA1_ENST00000532804.1_Missense_Mutation_p.R273T|TESPA1_ENST00000531122.1_Missense_Mutation_p.R273T|TESPA1_ENST00000316577.8_Missense_Mutation_p.R411T|TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000524622.1_Missense_Mutation_p.R273T	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	411					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											ACACAGCTCTCTCCTTATCTG	0.507																																						ENST00000524622.1																			0											c.(817-819)aGa>aCa		thymocyte expressed, positive selection associated 1							136.0	138.0	137.0					12																	55356450		1988	4160	6148	SO:0001583	missense	9840							g.chr12:55356450C>G	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1232G>C	12.37:g.55356450C>G	ENSP00000400892:p.Arg411Thr					TESPA1_ENST00000316577.8_Missense_Mutation_p.R411T|TESPA1_ENST00000532804.1_Missense_Mutation_p.R273T|TESPA1_ENST00000531122.1_Missense_Mutation_p.R273T|TESPA1_ENST00000449076.1_Missense_Mutation_p.R411T	p.R273T	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN			7	1479	-			411					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	c.818G>C	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	C	8.678	0.904554	0.17760	.	.	ENSG00000135426	ENST00000524622;ENST00000528240;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.50277	0.75;0.75;0.76;0.76;0.75	4.43	1.65	0.23941	.	0.229757	0.31404	N	0.007705	T	0.30696	0.0773	L	0.34521	1.04	0.28273	N	0.924327	P	0.36535	0.557	B	0.33620	0.167	T	0.19418	-1.0306	10	0.62326	D	0.03	-1.4789	6.1707	0.20416	0.0:0.6892:0.0:0.3108	.	411	A2RU30	K0748_HUMAN	T	273;11;273;411;411;273	ENSP00000435622:R273T;ENSP00000432030:R273T;ENSP00000400892:R411T;ENSP00000312679:R411T;ENSP00000433098:R273T	ENSP00000312679:R411T	R	-	2	0	KIAA0748	53642717	0.381000	0.25140	0.898000	0.35279	0.198000	0.23893	1.011000	0.29911	0.386000	0.24997	-0.136000	0.14681	AGA		0.507	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815		22	103	0	0	0	1	0	22	103				
LRRC7	57554	broad.mit.edu	37	1	70488940	70488940	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:70488940G>A	ENST00000035383.5	+	15	1593	c.1563G>A	c.(1561-1563)caG>caA	p.Q521Q	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000310961.5_Silent_p.Q526Q|LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000425754.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	521						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCGTCCCCCAGAATGACCCAC	0.562																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(1576-1578)caG>caA		leucine rich repeat containing 7							95.0	88.0	90.0					1																	70488940		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70488940G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1563G>A	1.37:g.70488940G>A						RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Silent_p.Q521Q	p.Q526Q			Q96NW7	LRRC7_HUMAN			18	1996	+			521					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.1578G>A	CCDS645.1																																																																																				0.562	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		8	71	0	0	0	1	0	8	71				
PCDHB6	56130	broad.mit.edu	37	5	140530760	140530760	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:140530760G>A	ENST00000231136.1	+	1	922	c.922G>A	c.(922-924)Gag>Aag	p.E308K	PCDHB6_ENST00000543635.1_Missense_Mutation_p.E172K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	308	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGGATTTTGAGGAAATTCA	0.458																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(922-924)Gag>Aag									90.0	98.0	95.0					5																	140530760		2203	4300	6503	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530760G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.922G>A	5.37:g.140530760G>A	ENSP00000231136:p.Glu308Lys					PCDHB6_ENST00000543635.1_Missense_Mutation_p.E172K	p.E308K	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	922	+			308			Cadherin 3.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.922G>A	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018980	0.75275	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.72394	-0.65;-0.65	4.85	4.85	0.62838	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.90123	0.6914	H	0.97465	4.01	0.48288	D	0.999628	D	0.89917	1.0	D	0.97110	1.0	D	0.93820	0.7118	9	0.87932	D	0	.	18.3285	0.90261	0.0:0.0:1.0:0.0	.	308	Q9Y5E3	PCDB6_HUMAN	K	172;308;93	ENSP00000438466:E172K;ENSP00000231136:E308K	ENSP00000231136:E308K	E	+	1	0	PCDHB6	140510944	1.000000	0.71417	0.924000	0.36721	0.343000	0.28985	9.740000	0.98839	2.394000	0.81467	0.561000	0.74099	GAG		0.458	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		17	63	0	0	0	1	0	17	63				
CUL4B	8450	broad.mit.edu	37	X	119670819	119670819	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:119670819G>T	ENST00000404115.3	-	17	2464	c.2063C>A	c.(2062-2064)cCg>cAg	p.P688Q	CUL4B_ENST00000336592.6_Missense_Mutation_p.P675Q|CUL4B_ENST00000371322.5_Missense_Mutation_p.P670Q	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	688					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CACATATGTCGGCCAATAGCC	0.373																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2008-2010)cCg>cAg		cullin 4B							134.0	115.0	122.0					X																	119670819		2203	4300	6503	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119670819G>T	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2063C>A	X.37:g.119670819G>T	ENSP00000384109:p.Pro688Gln					CUL4B_ENST00000404115.3_Missense_Mutation_p.P688Q|CUL4B_ENST00000336592.6_Missense_Mutation_p.P675Q	p.P670Q	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			15	2070	-			688					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.2009C>A	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.278215	0.80692	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	D;D;D	0.89875	-2.58;-2.58;-2.58	5.84	5.84	0.93424	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.97028	0.9029	H	0.98507	4.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.98563	1.0642	9	.	.	.	-8.6088	17.9659	0.89099	0.0:0.0:1.0:0.0	.	492;688;670	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	Q	670;675;688	ENSP00000360373:P670Q;ENSP00000338919:P675Q;ENSP00000384109:P688Q	.	P	-	2	0	CUL4B	119554847	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.742000	0.98846	2.463000	0.83235	0.594000	0.82650	CCG		0.373	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		26	140	1	0	9.80776e-20	1	1.06741e-19	26	140				
KANK4	163782	broad.mit.edu	37	1	62739257	62739257	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:62739257C>T	ENST00000371153.4	-	3	1897	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	507						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCTTCCTGTTCAGTGCCTGCT	0.597																																						ENST00000371153.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						c.(1519-1521)Gaa>Aaa		KN motif and ankyrin repeat domains 4							71.0	73.0	72.0					1																	62739257		2203	4300	6503	SO:0001583	missense	163782							g.chr1:62739257C>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1519G>A	1.37:g.62739257C>T	ENSP00000360195:p.Glu507Lys					KANK4_ENST00000354381.3_Intron	p.E507K	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN			3	1897	-			507					B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation	SNP	ENST00000371153.4	37	c.1519G>A	CCDS620.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.834886	0.71373	.	.	ENSG00000132854	ENST00000371153	T	0.41400	1.0	5.75	5.75	0.90469	.	0.000000	0.38164	N	0.001795	T	0.37046	0.0989	M	0.62723	1.935	0.40138	D	0.976802	P	0.35433	0.501	B	0.30646	0.118	T	0.35968	-0.9767	10	0.02654	T	1	-5.2827	17.7122	0.88325	0.0:1.0:0.0:0.0	.	507	Q5T7N3	KANK4_HUMAN	K	507	ENSP00000360195:E507K	ENSP00000360195:E507K	E	-	1	0	KANK4	62511845	0.020000	0.18652	0.060000	0.19600	0.224000	0.24922	1.493000	0.35605	2.713000	0.92767	0.655000	0.94253	GAA		0.597	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		11	73	0	0	0	1	0	11	73				
APOL1	8542	broad.mit.edu	37	22	36662064	36662064	+	Silent	SNP	G	G	A	rs185040686	byFrequency	TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr22:36662064G>A	ENST00000397278.3	+	6	1411	c.1182G>A	c.(1180-1182)gcG>gcA	p.A394A	APOL1_ENST00000319136.4_Silent_p.A410A|APOL1_ENST00000422706.1_Silent_p.A394A|APOL1_ENST00000397279.4_Silent_p.A394A|APOL1_ENST00000426053.1_Silent_p.A376A|APOL1_ENST00000347595.7_Silent_p.A273A	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	394					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TTCTGCAGGCGGACCAAGAAC	0.498													g|||	5	0.000998403	0.0	0.0058	5008	,	,		19015	0.0		0.0	False		,,,				2504	0.001					ENST00000319136.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						c.(1228-1230)gcG>gcA		apolipoprotein L, 1		A	,,,	0,4382		0,0,2191	33.0	38.0	36.0		1182,1128,1182,1230	-0.1	0.0	22		36	1,8587		0,1,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	APOL1	NM_001136540.1,NM_001136541.1,NM_003661.3,NM_145343.2	,,,	0,1,6484	AA,AG,GG		0.0116,0.0,0.0077	,,,	394/399,376/381,394/399,410/415	36662064	1,12969	2191	4294	6485	SO:0001819	synonymous_variant	8542				cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	g.chr22:36662064G>A	AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"""Apolipoproteins"""	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.1182G>A	22.37:g.36662064G>A						APOL1_ENST00000397278.3_Silent_p.A394A|APOL1_ENST00000397279.4_Silent_p.A394A|APOL1_ENST00000426053.1_Silent_p.A376A|APOL1_ENST00000347595.7_Silent_p.A273A|APOL1_ENST00000422706.1_Silent_p.A394A	p.A410A	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN			7	1497	+			394					A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Silent	SNP	ENST00000397278.3	37	c.1230G>A	CCDS13926.1																																																																																				0.498	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4	NM_145343		4	79	0	0	0	1	0	4	79				
SMUG1	23583	broad.mit.edu	37	12	54576029	54576029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:54576029G>A	ENST00000508394.2	-	3	726	c.664C>T	c.(664-666)Cga>Tga	p.R222*	SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000337581.3_Nonsense_Mutation_p.R222*|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000401977.2_Nonsense_Mutation_p.R222*|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000505128.1_3'UTR	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	222					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)			kidney(1)|large_intestine(4)|lung(1)	6						AGAGCCCGTCGTGCCCGCTGC	0.672								Base excision repair (BER), DNA glycosylases																														ENST00000508394.2																			0				kidney(1)|large_intestine(4)|lung(1)	6						c.(664-666)Cga>Tga	Base excision repair (BER), DNA glycosylases	single-strand-selective monofunctional uracil-DNA glycosylase 1							42.0	47.0	45.0					12																	54576029		2203	4300	6503	SO:0001587	stop_gained	23583				depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity	g.chr12:54576029G>A	AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.664C>T	12.37:g.54576029G>A	ENSP00000424191:p.Arg222*					SMUG1_ENST00000401977.2_Nonsense_Mutation_p.R222*|SMUG1_ENST00000337581.3_Nonsense_Mutation_p.R222*|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000506595.1_Intron	p.R222*	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN			3	726	-			222					A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Nonsense_Mutation	SNP	ENST00000508394.2	37	c.664C>T	CCDS8874.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.936824	0.92458	.	.	ENSG00000123415	ENST00000337581;ENST00000508394;ENST00000401977	.	.	.	4.6	2.77	0.32553	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4899	0.16771	0.1727:0.0:0.6693:0.1579	.	.	.	.	X	222	.	ENSP00000338606:R222X	R	-	1	2	SMUG1	52862296	0.989000	0.36119	0.215000	0.23724	0.964000	0.63967	2.410000	0.44592	0.487000	0.27698	-0.251000	0.11542	CGA		0.672	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359074.3	NM_014311		24	38	0	0	0	1	0	24	38				
HUWE1	10075	broad.mit.edu	37	X	53562351	53562351	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:53562351T>C	ENST00000342160.3	-	80	13100	c.12643A>G	c.(12643-12645)Atg>Gtg	p.M4215V	HUWE1_ENST00000262854.6_Missense_Mutation_p.M4215V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4215	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTACCTGTCATTCTCATCTGG	0.438																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(12643-12645)Atg>Gtg		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							227.0	169.0	189.0					X																	53562351		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53562351T>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12643A>G	X.37:g.53562351T>C	ENSP00000340648:p.Met4215Val					HUWE1_ENST00000262854.6_Missense_Mutation_p.M4215V	p.M4215V			Q7Z6Z7	HUWE1_HUMAN			80	13100	-			4215			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.12643A>G	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.87|13.87	2.366638|2.366638	0.41902|0.41902	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.56444|.	0.46;0.46|.	5.39|5.39	5.39|5.39	0.77823|0.77823	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61248|0.61248	0.2332|0.2332	L|L	0.46947|0.46947	1.48|1.48	0.80722|0.80722	D|D	1|1	P;P|.	0.45283|.	0.855;0.825|.	P;P|.	0.57204|.	0.815;0.719|.	T|T	0.59016|0.59016	-0.7533|-0.7533	10|5	0.72032|.	D|.	0.01|.	.|.	13.5866|13.5866	0.61935|0.61935	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	4215;4199|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	V|S	4215|3248;1037	ENSP00000340648:M4215V;ENSP00000262854:M4215V|.	ENSP00000262854:M4215V|.	M|N	-|-	1|2	0|0	HUWE1|HUWE1	53579076|53579076	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.500000|7.500000	0.81588|0.81588	1.920000|1.920000	0.55613|0.55613	0.486000|0.486000	0.48141|0.48141	ATG|AAT		0.438	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		8	51	0	0	0	1	0	8	51				
EFCAB6	64800	broad.mit.edu	37	22	44083443	44083443	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr22:44083443G>A	ENST00000262726.7	-	11	1303	c.1050C>T	c.(1048-1050)acC>acT	p.T350T	EFCAB6_ENST00000396231.2_Silent_p.T198T|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGATTTTAGTGGTGGCTTTAA	0.328																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1048-1050)acC>acT		EF-hand calcium binding domain 6							59.0	58.0	58.0					22																	44083443		2203	4300	6503	SO:0001819	synonymous_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44083443G>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1050C>T	22.37:g.44083443G>A						EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Silent_p.T198T	p.T350T	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			11	1303	-		Ovarian(80;0.0247)|all_neural(38;0.025)	350					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	c.1050C>T	CCDS14049.1																																																																																				0.328	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		34	101	0	0	0	1	0	34	101				
PXN	5829	broad.mit.edu	37	12	120653789	120653789	+	Intron	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:120653789G>A	ENST00000228307.7	-	7	973				PXN_ENST00000458477.2_Intron|PXN_ENST00000536957.1_Intron|PXN_ENST00000538144.1_Intron|PXN_ENST00000424649.2_Intron|PXN-AS1_ENST00000535200.1_RNA|PXN_ENST00000267257.7_Intron|PXN_ENST00000397506.3_Missense_Mutation_p.P23S	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin						activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCCCTTCTGGAGTGGCTTCT	0.632																																						ENST00000397506.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(67-69)Cca>Tca		paxillin							12.0	14.0	13.0					12																	120653789		875	1990	2865	SO:0001627	intron_variant	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120653789G>A	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.832-325C>T	12.37:g.120653789G>A						PXN_ENST00000228307.7_Intron|PXN_ENST00000538144.1_Intron|PXN_ENST00000424649.2_Intron|PXN_ENST00000536957.1_Intron|PXN_ENST00000458477.2_Intron|PXN_ENST00000267257.7_Intron	p.P23S			P49023	PAXI_HUMAN			3	1120	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		100					B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	ENST00000228307.7	37	c.67C>T	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	G	9.745	1.165959	0.21538	.	.	ENSG00000089159	ENST00000397506	T	0.53423	0.62	1.76	-0.38	0.12490	.	.	.	.	.	T	0.16300	0.0392	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25984	-1.0116	8	0.02654	T	1	.	2.1159	0.03713	0.2051:0.0:0.4869:0.3079	.	23	E7EMK8	.	S	23	ENSP00000380643:P23S	ENSP00000380643:P23S	P	-	1	0	PXN	119138172	0.002000	0.14202	0.001000	0.08648	0.019000	0.09904	0.441000	0.21611	-0.112000	0.11979	0.549000	0.68633	CCA		0.632	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		3	17	0	0	0	1	0	3	17				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	50	0	0	0	1	0	3	50				
LCP1	3936	broad.mit.edu	37	13	46717512	46717512	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr13:46717512G>T	ENST00000398576.2	-	15	1669	c.1281C>A	c.(1279-1281)ttC>ttA	p.F427L	LCP1_ENST00000323076.2_Missense_Mutation_p.F427L|LCP1_ENST00000435666.2_5'Flank			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	427	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CATAGAGCTGGAAGATGACCA	0.418			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(1279-1281)ttC>ttA		lymphocyte cytosolic protein 1 (L-plastin)							134.0	119.0	124.0					13																	46717512		2203	4300	6503	SO:0001583	missense	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46717512G>T	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1281C>A	13.37:g.46717512G>T	ENSP00000381581:p.Phe427Leu					LCP1_ENST00000323076.2_Missense_Mutation_p.F427L	p.F427L			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	15	1669	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	427			Actin-binding 2.|CH 3.		B2R613|B4DUA0|Q5TBN4	Missense_Mutation	SNP	ENST00000398576.2	37	c.1281C>A	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081941	0.36758	.	.	ENSG00000136167	ENST00000323076;ENST00000398576	D;D	0.94138	-3.36;-3.36	5.65	3.91	0.45181	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.77980	0.4212	N	0.01535	-0.81	0.80722	D	1	B	0.14438	0.01	B	0.17722	0.019	T	0.73388	-0.3998	10	0.02654	T	1	-19.5563	10.8642	0.46844	0.1505:0.0:0.8495:0.0	.	427	P13796	PLSL_HUMAN	L	427	ENSP00000315757:F427L;ENSP00000381581:F427L	ENSP00000315757:F427L	F	-	3	2	LCP1	45615513	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.856000	0.62932	1.395000	0.46643	0.555000	0.69702	TTC		0.418	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		7	93	1	0	8.12818e-05	1	8.39588e-05	7	93				
TAS2R40	259286	broad.mit.edu	37	7	142919262	142919262	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:142919262A>G	ENST00000408947.3	+	1	133	c.91A>G	c.(91-93)Act>Gct	p.T31A	AC073342.1_ENST00000595842.1_Silent_p.S33S	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	31					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					AGAGTGCATCACTGGCATCCT	0.512																																						ENST00000408947.3																			0				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						c.(91-93)Act>Gct		taste receptor, type 2, member 40							109.0	112.0	111.0					7																	142919262		2038	4189	6227	SO:0001583	missense	259286				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142919262A>G	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18885	protein-coding gene	gene with protein product		613964	"""G protein-coupled receptor 60"""	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.91A>G	7.37:g.142919262A>G	ENSP00000386210:p.Thr31Ala					AC073342.1_ENST00000595842.1_Silent_p.S33S	p.T31A	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN			1	133	+	Melanoma(164;0.059)		31					A4D2I2|Q645W6	Missense_Mutation	SNP	ENST00000408947.3	37	c.91A>G	CCDS43662.1	.	.	.	.	.	.	.	.	.	.	A	10.91	1.485630	0.26686	.	.	ENSG00000221937	ENST00000408947	T	0.36520	1.25	5.18	2.82	0.32997	.	1.999930	0.03497	U	0.217529	T	0.30727	0.0774	L	0.32530	0.975	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.19484	-1.0304	10	0.41790	T	0.15	.	7.0031	0.24821	0.7401:0.0:0.2599:0.0	.	31	P59535	T2R40_HUMAN	A	31	ENSP00000386210:T31A	ENSP00000386210:T31A	T	+	1	0	TAS2R40	142629384	.	.	0.003000	0.11579	0.268000	0.26511	.	.	0.916000	0.36871	0.533000	0.62120	ACT		0.512	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1			15	89	0	0	0	1	0	15	89				
ANKEF1	63926	broad.mit.edu	37	20	10023851	10023851	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr20:10023851A>T	ENST00000378380.3	+	3	757	c.428A>T	c.(427-429)aAc>aTc	p.N143I	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.N143I	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	143							calcium ion binding (GO:0005509)										GCAGATGTCAACAATTCTACC	0.408																																						ENST00000378380.3																			0											c.(427-429)aAc>aTc		ankyrin repeat and EF-hand domain containing 1							190.0	169.0	176.0					20																	10023851		2203	4300	6503	SO:0001583	missense	63926							g.chr20:10023851A>T	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.428A>T	20.37:g.10023851A>T	ENSP00000367631:p.Asn143Ile					SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.N143I|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA	p.N143I	NM_198798.1	NP_942093.1					3	757	+								B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.428A>T	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.797747	0.90538	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.58940	0.3;0.3	5.63	5.63	0.86233	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.81173	0.4767	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85452	0.1161	9	.	.	.	-0.0278	15.87	0.79108	1.0:0.0:0.0:0.0	.	143	Q9NU02	ANKR5_HUMAN	I	143	ENSP00000367644:N143I;ENSP00000367631:N143I	.	N	+	2	0	ANKRD5	9971851	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.558000	0.90704	2.145000	0.66743	0.533000	0.62120	AAC		0.408	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		72	100	0	0	0	1	0	72	100				
PCSK1	5122	broad.mit.edu	37	5	95768696	95768696	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:95768696G>A	ENST00000311106.3	-	1	288	c.51C>T	c.(49-51)tgC>tgT	p.C17C	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_5'Flank	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	17					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CACACCAAGCGCAAAAGAGGA	0.557																																						ENST00000311106.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(49-51)tgC>tgT		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						127.0	134.0	132.0					5																	95768696		2203	4300	6503	SO:0001819	synonymous_variant	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95768696G>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.51C>T	5.37:g.95768696G>A						CTD-2337A12.1_ENST00000502645.2_RNA	p.C17C	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	1	288	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	17					B7Z8T7|E9PHA1|P78478|Q92532	Silent	SNP	ENST00000311106.3	37	c.51C>T	CCDS4081.1																																																																																				0.557	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		37	139	0	0	0	1	0	37	139				
ATP6V0A4	50617	broad.mit.edu	37	7	138437534	138437534	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:138437534C>A	ENST00000310018.2	-	11	1147	c.865G>T	c.(865-867)Gct>Tct	p.A289S	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A289S|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A289S	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	289					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAGTTGGCAGCGGCTTCCTGC	0.502																																						ENST00000310018.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(865-867)Gct>Tct		ATPase, H+ transporting, lysosomal V0 subunit a4							86.0	76.0	79.0					7																	138437534		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138437534C>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.865G>T	7.37:g.138437534C>A	ENSP00000308122:p.Ala289Ser					ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A289S|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A289S	p.A289S	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN			11	1147	-			289					A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.865G>T	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521528	0.64747	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.86366	-2.11;-2.11;-2.11	5.59	5.59	0.84812	.	0.070349	0.64402	D	0.000012	D	0.86977	0.6063	L	0.48935	1.535	0.58432	D	0.999997	P	0.47191	0.891	P	0.49012	0.598	D	0.85032	0.0918	10	0.32370	T	0.25	-17.8224	15.5596	0.76234	0.1385:0.8615:0.0:0.0	.	289	Q9HBG4	VPP4_HUMAN	S	289	ENSP00000308122:A289S;ENSP00000376774:A289S;ENSP00000253856:A289S	ENSP00000308122:A289S	A	-	1	0	ATP6V0A4	138088074	0.901000	0.30685	0.531000	0.27976	0.651000	0.38670	1.843000	0.39259	2.793000	0.96121	0.655000	0.94253	GCT		0.502	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		26	62	1	0	1.39806e-14	1	1.512e-14	26	62				
UBTF	7343	broad.mit.edu	37	17	42289000	42289000	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:42289000C>A	ENST00000302904.4	-	10	1513	c.1021G>T	c.(1021-1023)Gac>Tac	p.D341Y	UBTF_ENST00000533177.1_Missense_Mutation_p.D304Y|UBTF_ENST00000436088.1_Missense_Mutation_p.D341Y|UBTF_ENST00000526094.1_Missense_Mutation_p.D304Y|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Missense_Mutation_p.D341Y|UBTF_ENST00000343638.5_Missense_Mutation_p.D304Y|UBTF_ENST00000393606.3_Missense_Mutation_p.D304Y|UBTF_ENST00000527034.1_Missense_Mutation_p.D304Y			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	341					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGATAGGCGTCCTTCTCCTTC	0.582																																						ENST00000302904.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1021-1023)Gac>Tac		upstream binding transcription factor, RNA polymerase I							112.0	108.0	109.0					17																	42289000		2203	4300	6503	SO:0001583	missense	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42289000C>A	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1021G>T	17.37:g.42289000C>A	ENSP00000302640:p.Asp341Tyr					UBTF_ENST00000343638.5_Missense_Mutation_p.D304Y|UBTF_ENST00000526094.1_Missense_Mutation_p.D304Y|UBTF_ENST00000436088.1_Missense_Mutation_p.D341Y|UBTF_ENST00000393606.3_Missense_Mutation_p.D304Y|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000533177.1_Missense_Mutation_p.D304Y|UBTF_ENST00000527034.1_Missense_Mutation_p.D304Y|UBTF_ENST00000529383.1_Missense_Mutation_p.D341Y	p.D341Y			P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	10	1513	-		Breast(137;0.00765)|Prostate(33;0.0181)	341					A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.1021G>T	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	c	21.0	4.088734	0.76756	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	4.4	4.4	0.53042	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	T	0.34600	0.0903	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	1.0;0.975;1.0	T	0.11036	-1.0604	10	0.72032	D	0.01	-27.088	16.7668	0.85526	0.0:1.0:0.0:0.0	.	304;304;341	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	Y	304;341;304;304;341;304;304;341	ENSP00000345297:D304Y;ENSP00000302640:D341Y;ENSP00000431539:D304Y;ENSP00000437180:D304Y;ENSP00000390669:D341Y;ENSP00000377231:D304Y;ENSP00000432925:D304Y;ENSP00000435708:D341Y	ENSP00000302640:D341Y	D	-	1	0	UBTF	39644526	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.554000	0.82212	2.291000	0.77112	0.491000	0.48974	GAC		0.582	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		12	139	1	0	3.07112e-06	1	3.21071e-06	12	139				
ATP6V0C	527	broad.mit.edu	37	16	2569364	2569364	+	Silent	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr16:2569364C>G	ENST00000330398.4	+	2	459	c.225C>G	c.(223-225)ctC>ctG	p.L75L	AMDHD2_ENST00000302956.4_5'Flank|AMDHD2_ENST00000413459.3_5'Flank|ATP6V0C_ENST00000565223.1_Silent_p.L32L|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.H371D|ATP6V0C_ENST00000564973.1_Silent_p.L32L|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.H58D|ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000293971.6_5'Flank	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	75					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				TGGCAGTCCTCATCGCCAACT	0.622																																						ENST00000564543.1																			0											c.(1111-1113)Cat>Gat									95.0	70.0	79.0					16																	2569364		2198	4300	6498	SO:0001819	synonymous_variant	527							g.chr16:2569364C>G	M62762	CCDS10470.1	16p13.3	2010-04-21	2002-08-29	2002-05-10	ENSG00000185883	ENSG00000185883	3.6.3.14	"""ATPases / V-type"""	855	protein-coding gene	gene with protein product		108745	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD"""	ATPL, ATP6C, ATP6L		1709739, 8250920	Standard	NM_001694		Approved	VATL, Vma3	uc021tav.1	P27449	OTTHUMG00000128865	ENST00000330398.4:c.225C>G	16.37:g.2569364C>G						ATP6V0C_ENST00000565223.1_Silent_p.L32L|ATP6V0C_ENST00000330398.4_Silent_p.L75L|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000564973.1_Silent_p.L32L|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.H58D	p.H371D							2	1228	+								Q6FH26	Missense_Mutation	SNP	ENST00000330398.4	37	c.1111C>G	CCDS10470.1																																																																																				0.622	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250810.1	NM_001694		6	74	0	0	0	1	0	6	74				
EIF4G1	1981	broad.mit.edu	37	3	184043143	184043143	+	Silent	SNP	C	C	T	rs374422548		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr3:184043143C>T	ENST00000346169.2	+	19	3214	c.2943C>T	c.(2941-2943)gaC>gaT	p.D981D	EIF4G1_ENST00000427845.1_Silent_p.D895D|EIF4G1_ENST00000434061.2_Silent_p.D786D|EIF4G1_ENST00000350481.5_Silent_p.D817D|EIF4G1_ENST00000441154.1_Silent_p.D818D|EIF4G1_ENST00000435046.2_Silent_p.D785D|EIF4G1_ENST00000424196.1_Silent_p.D988D|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Silent_p.D988D|EIF4G1_ENST00000319274.6_Silent_p.D981D|EIF4G1_ENST00000414031.1_Silent_p.D941D|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000342981.4_Silent_p.D982D|EIF4G1_ENST00000392537.2_Silent_p.D894D|EIF4G1_ENST00000352767.3_Silent_p.D988D|EIF4G1_ENST00000411531.1_Silent_p.D942D	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	981	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCTGCAGGACGTGCTGGATC	0.522																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2944-2946)gaC>gaT		eukaryotic translation initiation factor 4 gamma, 1		C	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	113.0	109.0	110.0		2964,2964,2358,2946,2943,2451,2682	-9.2	0.5	3		110	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EIF4G1	NM_001194946.1,NM_001194947.1,NM_004953.4,NM_182917.4,NM_198241.2,NM_198242.2,NM_198244.2	,,,,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,,,,	988/1607,988/1607,786/1405,982/1601,981/1600,817/1436,894/1513	184043143	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184043143C>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.2943C>T	3.37:g.184043143C>T						EIF4G1_ENST00000434061.2_Silent_p.D786D|EIF4G1_ENST00000352767.3_Silent_p.D988D|EIF4G1_ENST00000441154.1_Silent_p.D818D|EIF4G1_ENST00000392537.2_Silent_p.D894D|EIF4G1_ENST00000424196.1_Silent_p.D988D|EIF4G1_ENST00000319274.6_Silent_p.D981D|EIF4G1_ENST00000382330.3_Silent_p.D988D|EIF4G1_ENST00000411531.1_Silent_p.D942D|EIF4G1_ENST00000346169.2_Silent_p.D981D|EIF4G1_ENST00000427845.1_Silent_p.D895D|EIF4G1_ENST00000414031.1_Silent_p.D941D|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Silent_p.D817D|EIF4G1_ENST00000435046.2_Silent_p.D785D	p.D982D	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		18	3360	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		981			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.2946C>T	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	7.547	0.661801	0.14645	2.27E-4	0.0	ENSG00000114867	ENST00000448284	.	.	.	5.53	-9.24	0.00669	.	.	.	.	.	T	0.71668	0.3367	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76769	-0.2837	4	.	.	.	-17.2338	21.6776	0.99959	0.0:0.0959:0.0:0.9041	.	.	.	.	M	33	.	.	T	+	2	0	EIF4G1	185525837	0.936000	0.31750	0.489000	0.27452	0.980000	0.70556	-0.021000	0.12504	-1.957000	0.01021	-0.300000	0.09419	ACG		0.522	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		38	195	0	0	0	1	0	38	195				
RNF40	9810	broad.mit.edu	37	16	30775583	30775583	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr16:30775583G>A	ENST00000324685.6	+	5	961	c.526G>A	c.(526-528)Gag>Aag	p.E176K	C16orf93_ENST00000541260.1_5'Flank|RNF40_ENST00000563683.1_Missense_Mutation_p.E176K|RNF40_ENST00000357890.5_Missense_Mutation_p.E176K|C16orf93_ENST00000545825.1_5'Flank|RNF40_ENST00000402121.3_Intron|C16orf93_ENST00000543610.1_5'Flank	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	176					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CAGCAGTGAGGAGGTGGAGCT	0.627																																						ENST00000324685.6																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30						c.(526-528)Gag>Aag		ring finger protein 40, E3 ubiquitin protein ligase							59.0	48.0	52.0					16																	30775583		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30775583G>A	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.526G>A	16.37:g.30775583G>A	ENSP00000325677:p.Glu176Lys					RNF40_ENST00000357890.5_Missense_Mutation_p.E176K|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Missense_Mutation_p.E176K	p.E176K	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		5	961	+			176					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.526G>A	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	36	5.888953	0.97068	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000452273	T;T	0.54279	1.1;0.58	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.76328	0.3972	M	0.82323	2.585	0.80722	D	1	D;D;D	0.67145	0.996;0.978;0.978	D;P;P	0.73708	0.981;0.878;0.878	T	0.78066	-0.2349	10	0.87932	D	0	-33.6306	19.4154	0.94694	0.0:0.0:1.0:0.0	.	176;176;176	O75150-4;A8K6K1;O75150	.;.;BRE1B_HUMAN	K	176;176;25	ENSP00000325677:E176K;ENSP00000350563:E176K	ENSP00000325677:E176K	E	+	1	0	RNF40	30683084	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.538000	0.90634	2.884000	0.98904	0.655000	0.94253	GAG		0.627	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		4	17	0	0	0	1	0	4	17				
SVEP1	79987	broad.mit.edu	37	9	113169072	113169072	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:113169072G>T	ENST00000401783.2	-	38	9144	c.8808C>A	c.(8806-8808)aaC>aaA	p.N2936K	SVEP1_ENST00000297826.5_Missense_Mutation_p.N862K|SVEP1_ENST00000374469.1_Missense_Mutation_p.N2913K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2936	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTGCATCCCAGTTGCCATCTG	0.493																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(8806-8808)aaC>aaA		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							176.0	176.0	176.0					9																	113169072		2038	4182	6220	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113169072G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8808C>A	9.37:g.113169072G>T	ENSP00000384917:p.Asn2936Lys					SVEP1_ENST00000374469.1_Missense_Mutation_p.N2913K|SVEP1_ENST00000297826.5_Missense_Mutation_p.N862K	p.N2936K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN			38	9144	-			2936			Sushi 25.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.8808C>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	3.722	-0.057330	0.07317	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.63417	-0.04;-0.04;-0.04	5.57	1.41	0.22369	Complement control module (2);Sushi/SCR/CCP (3);	0.765411	0.12960	N	0.425096	T	0.35189	0.0923	N	0.13235	0.315	0.80722	D	1	B	0.20164	0.042	B	0.22152	0.038	T	0.20907	-1.0261	10	0.06099	T	0.92	.	4.3189	0.11007	0.0705:0.2548:0.4119:0.2627	.	2936	Q4LDE5	SVEP1_HUMAN	K	2936;2913;862	ENSP00000384917:N2936K;ENSP00000363593:N2913K;ENSP00000297826:N862K	ENSP00000297826:N862K	N	-	3	2	SVEP1	112208893	0.032000	0.19561	0.113000	0.21522	0.865000	0.49528	0.216000	0.17585	-0.004000	0.14419	0.591000	0.81541	AAC		0.493	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				218	98	1	0	2.91285e-89	1	3.21065e-89	218	98				
SPTAN1	6709	broad.mit.edu	37	9	131339447	131339447	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:131339447G>A	ENST00000372731.4	+	7	935	c.825G>A	c.(823-825)gaG>gaA	p.E275E	SPTAN1_ENST00000358161.5_Silent_p.E275E|SPTAN1_ENST00000372739.3_Silent_p.E275E	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	275					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGGAAAAGGAGCAGTTAATGG	0.488																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(823-825)gaG>gaA		spectrin, alpha, non-erythrocytic 1							171.0	178.0	176.0					9																	131339447		2203	4300	6503	SO:0001819	synonymous_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131339447G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.825G>A	9.37:g.131339447G>A						SPTAN1_ENST00000372731.4_Silent_p.E275E|SPTAN1_ENST00000358161.5_Silent_p.E275E	p.E275E	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			7	935	+			275					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.825G>A	CCDS6905.1																																																																																				0.488	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		27	213	0	0	0	1	0	27	213				
UPF1	5976	broad.mit.edu	37	19	18974385	18974385	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:18974385C>G	ENST00000599848.1	+	19	2981	c.2772C>G	c.(2770-2772)ttC>ttG	p.F924L	UPF1_ENST00000262803.5_Missense_Mutation_p.F913L			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	924					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TCATGCAGTTCAGCAAGCCAC	0.592																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(2737-2739)ttC>ttG		UPF1 regulator of nonsense transcripts homolog (yeast)							62.0	52.0	55.0					19																	18974385		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18974385C>G	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.2772C>G	19.37:g.18974385C>G	ENSP00000470142:p.Phe924Leu					UPF1_ENST00000599848.1_Missense_Mutation_p.F924L	p.F913L	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			19	3011	+			924					O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.2739C>G		.	.	.	.	.	.	.	.	.	.	C	9.657	1.143205	0.21205	.	.	ENSG00000005007	ENST00000262803	D	0.89485	-2.52	4.47	1.12	0.20585	.	0.000000	0.85682	D	0.000000	T	0.75568	0.3867	N	0.17723	0.515	0.58432	D	0.999995	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.58707	-0.7589	10	0.11794	T	0.64	-37.8757	7.5843	0.27982	0.0:0.7348:0.0:0.2652	.	924;913	Q92900;Q92900-2	RENT1_HUMAN;.	L	913	ENSP00000262803:F913L	ENSP00000262803:F913L	F	+	3	2	UPF1	18835385	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	3.822000	0.55708	0.032000	0.15435	0.561000	0.74099	TTC		0.592	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		9	56	0	0	0	1	0	9	56				
FXYD5	53827	broad.mit.edu	37	19	35657174	35657174	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr19:35657174C>T	ENST00000342879.3	+	7	1211	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	FXYD5_ENST00000392217.3_Missense_Mutation_p.R74W|FXYD5_ENST00000543307.1_Missense_Mutation_p.R145W|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000423817.3_Missense_Mutation_p.R145W|FXYD5_ENST00000590686.1_Missense_Mutation_p.R145W|FXYD5_ENST00000392219.2_Missense_Mutation_p.R145W|FXYD5_ENST00000588699.1_Missense_Mutation_p.R145W|FXYD5_ENST00000541435.2_Missense_Mutation_p.R145W			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	145					microvillus assembly (GO:0030033)|negative regulation of calcium-dependent cell-cell adhesion (GO:0046588)	integral component of membrane (GO:0016021)	actin binding (GO:0003779)|cadherin binding (GO:0045296)|ion channel activity (GO:0005216)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CCTCCGGAAACGGGGGCTGTT	0.552																																						ENST00000342879.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(433-435)Cgg>Tgg		FXYD domain containing ion transport regulator 5							195.0	199.0	197.0					19																	35657174		2203	4300	6503	SO:0001583	missense	53827				microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity	g.chr19:35657174C>T	AF161462	CCDS12447.1	19q13.12	2008-02-05	2002-01-14		ENSG00000089327	ENSG00000089327			4029	protein-coding gene	gene with protein product	"""dysadherin"""	606669	"""FXYD domain-containing ion transport regulator 5"""				Standard	NM_144779		Approved	OIT2	uc002nyg.2	Q96DB9	OTTHUMG00000048092	ENST00000342879.3:c.433C>T	19.37:g.35657174C>T	ENSP00000344254:p.Arg145Trp					FXYD5_ENST00000392217.3_Missense_Mutation_p.R74W|FXYD5_ENST00000588699.1_Missense_Mutation_p.R145W|FXYD5_ENST00000423817.3_Missense_Mutation_p.R145W|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000543307.1_Missense_Mutation_p.R145W|FXYD5_ENST00000541435.2_Missense_Mutation_p.R145W|FXYD5_ENST00000392219.2_Missense_Mutation_p.R145W|FXYD5_ENST00000590686.1_Missense_Mutation_p.R145W	p.R145W			Q96DB9	FXYD5_HUMAN	Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)		7	1211	+	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		145					B7WNZ8|Q6UW44|Q9HC34|Q9P039	Missense_Mutation	SNP	ENST00000342879.3	37	c.433C>T	CCDS12447.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885248	0.72410	.	.	ENSG00000089327	ENST00000543307;ENST00000392219;ENST00000541435;ENST00000342879;ENST00000423817;ENST00000392217	T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.17	2.85	0.33270	.	0.564744	0.17017	N	0.190267	T	0.72969	0.3527	L	0.57536	1.79	0.34773	D	0.733918	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.984;0.998	T	0.79162	-0.1917	10	0.66056	D	0.02	-12.5055	10.1426	0.42744	0.4077:0.5923:0.0:0.0	.	145;74;145	F5H4X8;Q96DB9-2;Q96DB9	.;.;FXYD5_HUMAN	W	145;145;145;145;145;74	ENSP00000444839:R145W;ENSP00000376053:R145W;ENSP00000443390:R145W;ENSP00000344254:R145W;ENSP00000393848:R145W;ENSP00000376051:R74W	ENSP00000344254:R145W	R	+	1	2	FXYD5	40349014	0.546000	0.26457	0.981000	0.43875	0.945000	0.59286	0.671000	0.25172	1.328000	0.45358	0.563000	0.77884	CGG		0.552	FXYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109443.1	NM_014164		91	221	0	0	0	1	0	91	221				
IGLV3-21	28796	broad.mit.edu	37	22	23055573	23055573	+	RNA	SNP	G	G	A	rs566631800	byFrequency	TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr22:23055573G>A	ENST00000390308.2	+	0	487									immunoglobulin lambda variable 3-21																		ATCCCTGAGCGATTCTCTGGC	0.577													-|||	2	0.000399361	0.0	0.0014	5008	,	,		11251	0.001		0.0	False		,,,				2504	0.0					ENST00000390308.2																			0																				51.0	53.0	52.0					22																	23055573		1899	4119	6018			28796							g.chr22:23055573G>A	X71966		22q11.2	2012-02-08			ENSG00000211662	ENSG00000211662		"""Immunoglobulins / IGL locus"""	5905	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151213		22.37:g.23055573G>A														0	487	+									RNA	SNP	ENST00000390308.2	37																																																																																						0.577	IGLV3-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321817.1	NG_000002		26	78	0	0	0	1	0	26	78				
CFH	3075	broad.mit.edu	37	1	196684847	196684847	+	Silent	SNP	T	T	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:196684847T>A	ENST00000367429.4	+	11	1884	c.1644T>A	c.(1642-1644)acT>acA	p.T548T		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	548	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GAAGCACCACTGGTTCCATAG	0.353																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1642-1644)acT>acA		complement factor H							238.0	225.0	230.0					1																	196684847		2203	4300	6503	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196684847T>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1644T>A	1.37:g.196684847T>A							p.T548T	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			11	1884	+			548			Sushi 9.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	c.1644T>A	CCDS1385.1																																																																																				0.353	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		6	190	0	0	0	1	0	6	190				
NFE2L2	4780	broad.mit.edu	37	2	178095546	178095546	+	Silent	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr2:178095546G>A	ENST00000397062.3	-	5	2339	c.1785C>T	c.(1783-1785)ccC>ccT	p.P595P	NFE2L2_ENST00000397063.4_Silent_p.P579P|NFE2L2_ENST00000446151.2_Silent_p.P572P|NFE2L2_ENST00000464747.1_Silent_p.P579P	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	595	Mediates interaction with CHD6 and is necessary to activate transcription. {ECO:0000250}.				cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCTTACTTTTGGGAACAAGGA	0.373			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		0				central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(1783-1785)ccC>ccT		nuclear factor, erythroid 2-like 2							102.0	94.0	97.0					2																	178095546		1832	4094	5926	SO:0001819	synonymous_variant	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178095546G>A		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1785C>T	2.37:g.178095546G>A		HNSCC(56;0.16)				NFE2L2_ENST00000397063.4_Silent_p.P579P|NFE2L2_ENST00000464747.1_Silent_p.P579P|NFE2L2_ENST00000446151.2_Silent_p.P572P	p.P595P	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		5	2339	-			595					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Silent	SNP	ENST00000397062.3	37	c.1785C>T	CCDS42782.1																																																																																				0.373	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		10	148	0	0	0	1	0	10	148				
HNRNPR	10236	broad.mit.edu	37	1	23645003	23645003	+	Silent	SNP	T	T	C			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:23645003T>C	ENST00000374612.1	-	8	1113	c.990A>G	c.(988-990)gaA>gaG	p.E330E	HNRNPR_ENST00000427764.2_Silent_p.E292E|HNRNPR_ENST00000302271.6_Silent_p.E330E|HNRNPR_ENST00000426846.2_Silent_p.E170E|HNRNPR_ENST00000606561.1_Silent_p.E191E|HNRNPR_ENST00000374616.3_Silent_p.E333E|HNRNPR_ENST00000478691.1_Silent_p.E232E	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	330					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GATCTGGTTCTTCCACAGGGT	0.428																																						ENST00000478691.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(694-696)gaA>gaG		heterogeneous nuclear ribonucleoprotein R							119.0	111.0	114.0					1																	23645003		2203	4300	6503	SO:0001819	synonymous_variant	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23645003T>C	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.990A>G	1.37:g.23645003T>C						HNRNPR_ENST00000427764.2_Silent_p.E292E|HNRNPR_ENST00000426846.2_Silent_p.E170E|HNRNPR_ENST00000606561.1_Silent_p.E191E|HNRNPR_ENST00000374612.1_Silent_p.E330E|HNRNPR_ENST00000374616.3_Silent_p.E333E|HNRNPR_ENST00000302271.6_Silent_p.E330E	p.E232E	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	7	967	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	330			RRM 1.		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Silent	SNP	ENST00000374612.1	37	c.696A>G	CCDS232.1																																																																																				0.428	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		76	52	0	0	0	1	0	76	52				
AP4E1	23431	broad.mit.edu	37	15	51240332	51240332	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr15:51240332G>A	ENST00000261842.5	+	11	1398	c.1292G>A	c.(1291-1293)gGc>gAc	p.G431D	AP4E1_ENST00000560508.1_Missense_Mutation_p.G356D	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	431					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AATTTGGTCGGCAAAATAGCA	0.338																																						ENST00000261842.5																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27						c.(1291-1293)gGc>gAc		adaptor-related protein complex 4, epsilon 1 subunit							105.0	102.0	103.0					15																	51240332		2196	4294	6490	SO:0001583	missense	23431				intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity	g.chr15:51240332G>A	AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.1292G>A	15.37:g.51240332G>A	ENSP00000261842:p.Gly431Asp					AP4E1_ENST00000560508.1_Missense_Mutation_p.G356D	p.G431D	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN		all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)	11	1398	+			431					A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	c.1292G>A	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144876	0.77888	.	.	ENSG00000081014	ENST00000261842	T	0.23552	1.9	5.78	5.78	0.91487	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.413135	0.27567	N	0.018787	T	0.45617	0.1351	L	0.60455	1.87	0.80722	D	1	D	0.67145	0.996	P	0.62298	0.9	T	0.06320	-1.0833	10	0.25751	T	0.34	1.9094	19.0086	0.92863	0.0:0.0:1.0:0.0	.	431	Q9UPM8	AP4E1_HUMAN	D	431	ENSP00000261842:G431D	ENSP00000261842:G431D	G	+	2	0	AP4E1	49027624	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.729000	0.93468	0.650000	0.86243	GGC		0.338	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			4	72	0	0	0	1	0	4	72				
FAT3	120114	broad.mit.edu	37	11	92543192	92543192	+	Missense_Mutation	SNP	C	C	G	rs571920220		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:92543192C>G	ENST00000298047.6	+	12	9448	c.9431C>G	c.(9430-9432)aCa>aGa	p.T3144R	FAT3_ENST00000409404.2_Missense_Mutation_p.T3144R|FAT3_ENST00000525166.1_Missense_Mutation_p.T2994R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3144	Cadherin 29. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATGAGAACACAGCCACCAAG	0.507										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(9430-9432)aCa>aGa		FAT atypical cadherin 3							54.0	56.0	56.0					11																	92543192		1960	4143	6103	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92543192C>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9431C>G	11.37:g.92543192C>G	ENSP00000298047:p.Thr3144Arg	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.T2994R|FAT3_ENST00000409404.2_Missense_Mutation_p.T3144R	p.T3144R			Q8TDW7	FAT3_HUMAN			12	9448	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3144			Cadherin 29.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.9431C>G		.	.	.	.	.	.	.	.	.	.	C	27.0	4.794720	0.90453	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01647	4.71;4.71;4.71	5.16	5.16	0.70880	.	.	.	.	.	T	0.10809	0.0264	M	0.78916	2.43	0.80722	D	1	D	0.69078	0.997	D	0.66497	0.944	T	0.00512	-1.1696	9	0.72032	D	0.01	.	18.6484	0.91419	0.0:1.0:0.0:0.0	.	3144	Q8TDW7-3	.	R	3144;3144;2994	ENSP00000298047:T3144R;ENSP00000387040:T3144R;ENSP00000432586:T2994R	ENSP00000298047:T3144R	T	+	2	0	FAT3	92182840	1.000000	0.71417	0.954000	0.39281	0.981000	0.71138	7.755000	0.85180	2.417000	0.82017	0.563000	0.77884	ACA		0.507	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		51	29	0	0	0	1	0	51	29				
INPP5E	56623	broad.mit.edu	37	9	139333155	139333155	+	Silent	SNP	C	C	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:139333155C>A	ENST00000371712.3	-	1	1119	c.717G>T	c.(715-717)ccG>ccT	p.P239P	SEC16A_ENST00000467838.1_5'Flank	NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGGGGCTCCGCGGCCGGCCGG	0.687																																						ENST00000371712.3																			0				NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(715-717)ccG>ccT		inositol polyphosphate-5-phosphatase, 72 kDa							8.0	10.0	9.0					9																	139333155		2109	4183	6292	SO:0001819	synonymous_variant	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139333155C>A	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.717G>T	9.37:g.139333155C>A							p.P239P	NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	1	1119	-		Myeloproliferative disorder(178;0.0511)	239			13 X 4 AA repeats of P-X-X-P.		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Silent	SNP	ENST00000371712.3	37	c.717G>T	CCDS7000.1																																																																																				0.687	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		6	20	1	0	0.00116845	1	0.00119264	6	20				
OR10A5	144124	broad.mit.edu	37	11	6867255	6867255	+	Silent	SNP	C	C	T	rs150623430	byFrequency	TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr11:6867255C>T	ENST00000299454.4	+	1	373	c.342C>T	c.(340-342)ttC>ttT	p.F114F	OR10A5_ENST00000379831.2_Silent_p.F118F			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	114					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTGAATGCTTCCTCCTGGCTA	0.532																																					Pancreas(44;21 1072 25662 28041 45559)	ENST00000299454.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21						c.(340-342)ttC>ttT		olfactory receptor, family 10, subfamily A, member 5		C		0,4402		0,0,2201	118.0	115.0	116.0		342	2.7	1.0	11	dbSNP_134	116	4,8588		0,4,4292	no	coding-synonymous	OR10A5	NM_178168.1		0,4,6493	TT,TC,CC		0.0466,0.0,0.0308		114/318	6867255	4,12990	2201	4296	6497	SO:0001819	synonymous_variant	144124				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6867255C>T	AF324499	CCDS7773.1	11p15.4	2012-08-09			ENSG00000166363	ENSG00000166363		"""GPCR / Class A : Olfactory receptors"""	15131	protein-coding gene	gene with protein product		608493		OR10A1			Standard	NM_178168		Approved	OR11-403, JCG6	uc001met.1	Q9H207	OTTHUMG00000165738	ENST00000299454.4:c.342C>T	11.37:g.6867255C>T						OR10A5_ENST00000379831.2_Silent_p.F118F	p.F114F			Q9H207	O10A5_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	373	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	114					O95223|Q52M66|Q96R21|Q96R22	Silent	SNP	ENST00000299454.4	37	c.342C>T	CCDS7773.1																																																																																				0.532	OR10A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385983.1	NM_178168		18	124	0	0	0	1	0	18	124				
PIK3CG	5294	broad.mit.edu	37	7	106524653	106524653	+	Silent	SNP	A	A	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:106524653A>G	ENST00000359195.3	+	9	3124	c.2814A>G	c.(2812-2814)gcA>gcG	p.A938A	PIK3CG_ENST00000496166.1_Silent_p.A938A|PIK3CG_ENST00000440650.2_Silent_p.A938A	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	938	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACTGTGTGGCAACCTTTGTTC	0.358																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(2812-2814)gcA>gcG		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							184.0	181.0	182.0					7																	106524653		2203	4300	6503	SO:0001819	synonymous_variant	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106524653A>G		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2814A>G	7.37:g.106524653A>G						PIK3CG_ENST00000496166.1_Silent_p.A938A|PIK3CG_ENST00000440650.2_Silent_p.A938A	p.A938A	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			9	3124	+			938			PI3K/PI4K.		A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	c.2814A>G	CCDS5739.1																																																																																				0.358	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			27	148	0	0	0	1	0	27	148				
LRRN3	54674	broad.mit.edu	37	7	110763396	110763396	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr7:110763396C>G	ENST00000422987.3	+	2	1399	c.568C>G	c.(568-570)Cta>Gta	p.L190V	LRRN3_ENST00000451085.1_Missense_Mutation_p.L190V|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.L190V|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000450877.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	190					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TCTTCCAAATCTAGAGATTCT	0.373																																						ENST00000451085.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(568-570)Cta>Gta		leucine rich repeat neuronal 3							65.0	68.0	67.0					7																	110763396		2203	4299	6502	SO:0001583	missense	54674					integral to membrane		g.chr7:110763396C>G	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.568C>G	7.37:g.110763396C>G	ENSP00000412417:p.Leu190Val					IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.L190V|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.L190V|IMMP2L_ENST00000415362.1_Intron	p.L190V	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1614	+			190					O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.568C>G	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749341	0.49257	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	T;T;T;T	0.51574	0.7;0.7;0.7;3.0	6.16	4.38	0.52667	.	0.000000	0.46145	D	0.000309	T	0.68284	0.2984	M	0.92784	3.345	0.46564	D	0.9991	P	0.49783	0.928	P	0.53035	0.716	T	0.75722	-0.3218	10	0.72032	D	0.01	.	12.6358	0.56683	0.0:0.8683:0.0:0.1317	.	190	Q9H3W5	LRRN3_HUMAN	V	190	ENSP00000312001:L190V;ENSP00000397312:L190V;ENSP00000412417:L190V;ENSP00000407927:L190V	ENSP00000312001:L190V	L	+	1	2	LRRN3	110550632	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	2.193000	0.42658	0.947000	0.37659	0.650000	0.86243	CTA		0.373	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		18	105	0	0	0	1	0	18	105				
GMEB1	10691	broad.mit.edu	37	1	29040842	29040842	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr1:29040842C>A	ENST00000294409.2	+	10	1369	c.1279C>A	c.(1279-1281)Ctc>Atc	p.L427I	GMEB1_ENST00000361872.4_Missense_Mutation_p.L417I|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000373816.1_Missense_Mutation_p.L417I	NM_006582.3	NP_006573.2	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	427					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGGCCACCCTCAGCCAGGG	0.577																																						ENST00000373816.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11						c.(1249-1251)Ctc>Atc		glucocorticoid modulatory element binding protein 1							118.0	97.0	104.0					1																	29040842		2203	4300	6503	SO:0001583	missense	10691				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	g.chr1:29040842C>A	AF099013	CCDS327.1, CCDS328.1	1p35	2008-02-05			ENSG00000162419	ENSG00000162419			4370	protein-coding gene	gene with protein product		604409				10386584, 10523663	Standard	NM_006582		Approved	P96PIF, PIF96	uc001bra.3	Q9Y692	OTTHUMG00000003647	ENST00000294409.2:c.1279C>A	1.37:g.29040842C>A	ENSP00000294409:p.Leu427Ile					GMEB1_ENST00000294409.2_Missense_Mutation_p.L427I|GMEB1_ENST00000361872.4_Missense_Mutation_p.L417I|GMEB1_ENST00000480454.1_3'UTR	p.L417I	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	10	1387	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	427					B1AT48|Q9NWH1|Q9UKD0	Missense_Mutation	SNP	ENST00000294409.2	37	c.1249C>A	CCDS327.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473320	0.43942	.	.	ENSG00000162419	ENST00000373816;ENST00000361872;ENST00000294409	T;T;T	0.62788	0.02;0.02;0.0	5.75	5.75	0.90469	.	0.230110	0.36972	N	0.002315	T	0.50292	0.1607	L	0.31065	0.9	0.24104	N	0.995865	B;B	0.13145	0.007;0.007	B;B	0.13407	0.009;0.009	T	0.44065	-0.9352	10	0.48119	T	0.1	0.6147	12.4256	0.55544	0.1675:0.8325:0.0:0.0	.	427;417	Q9Y692;B1AT47	GMEB1_HUMAN;.	I	417;417;427	ENSP00000362922:L417I;ENSP00000355186:L417I;ENSP00000294409:L427I	ENSP00000294409:L427I	L	+	1	0	GMEB1	28913429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.754000	0.47532	2.716000	0.92895	0.655000	0.94253	CTC		0.577	GMEB1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000010333.1	NM_006582		4	68	1	0	0.00909568	1	0.00912212	4	68				
MTAP	4507	broad.mit.edu	37	9	21861974	21861974	+	Splice_Site	SNP	G	G	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:21861974G>A	ENST00000460874.2	+	8	1089		c.e8-1		RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000580900.1_Intron|RP11-70L8.4_ENST00000581788.1_RNA|MTAP_ENST00000380172.4_Splice_Site					methylthioadenosine phosphorylase									p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)		CTTCCTTTCAGAATATGGCCC	0.353																																						ENST00000380172.4																			2	Whole gene deletion(2)	p.0(1)|p.0?(1)	lung(2)	central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10						c.e8-1		methylthioadenosine phosphorylase	Adenine(DB00173)						101.0	101.0	101.0					9																	21861974		2203	4300	6503	SO:0001630	splice_region_variant	4507				nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	g.chr9:21861974G>A	AB062485	CCDS6509.1	9p21	2013-05-29			ENSG00000099810	ENSG00000099810	2.4.2.28		7413	protein-coding gene	gene with protein product	"""S-methyl-5'-thioadenosine phosphorylase"""	156540				11126361	Standard	NM_002451		Approved	MSAP, c86fus	uc003zph.3	Q13126	OTTHUMG00000019690	ENST00000460874.2:c.865-1G>A	9.37:g.21861974G>A						RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000460874.2_Splice_Site|MTAP_ENST00000580900.1_Intron		NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	8	1019	+		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)							Splice_Site	SNP	ENST00000460874.2	37			.	.	.	.	.	.	.	.	.	.	G	19.80	3.895045	0.72639	.	.	ENSG00000099810	ENST00000380172	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4311	0.90625	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTAP	21851974	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.150000	0.77403	2.648000	0.89879	0.561000	0.74099	.		0.353	MTAP-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000051929.2	NM_002451	Intron	26	155	0	0	0	1	0	26	155				
CHDC2	286464	broad.mit.edu	37	X	36103497	36103497	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:36103497C>A	ENST00000313548.4	+	5	669	c.483C>A	c.(481-483)gaC>gaA	p.D161E		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	161						integral component of membrane (GO:0016021)											GACAGAATGACTTTTCCAAAT	0.343																																						ENST00000378660.1																			0											c.(481-483)gaC>gaA		calponin homology domain containing 2							90.0	88.0	89.0					X																	36103497		2202	4300	6502	SO:0001583	missense	286464							g.chrX:36103497C>A	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.483C>A	X.37:g.36103497C>A	ENSP00000324767:p.Asp161Glu					CHDC2_ENST00000313548.4_Missense_Mutation_p.D161E	p.D161E							5	671	+									Missense_Mutation	SNP	ENST00000313548.4	37	c.483C>A	CCDS14238.1	.	.	.	.	.	.	.	.	.	.	C	3.246	-0.154220	0.06585	.	.	ENSG00000176034	ENST00000378660;ENST00000313548	.	.	.	5.52	1.02	0.19986	.	0.179778	0.30742	N	0.008980	T	0.23572	0.0570	N	0.24115	0.695	0.09310	N	1	B	0.22683	0.073	B	0.19946	0.027	T	0.12091	-1.0561	9	0.33940	T	0.23	-6.3965	6.0058	0.19544	0.0:0.6191:0.152:0.2288	.	161	Q8N9S7	CX059_HUMAN	E	161	.	ENSP00000324767:D161E	D	+	3	2	CXorf59	36013418	0.270000	0.24152	0.059000	0.19551	0.003000	0.03518	-0.593000	0.05740	0.057000	0.16193	-0.190000	0.12839	GAC		0.343	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		19	75	1	0	1.96895e-08	1	2.09011e-08	19	75				
LMBRD2	92255	broad.mit.edu	37	5	36122429	36122431	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr5:36122429_36122431delGGC	ENST00000296603.4	-	9	1533_1535	c.1071_1073delGCC	c.(1069-1074)tcgcca>tca	p.P358del		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	358						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTGGCTCTGGCGATTGAAAGG	0.3																																						ENST00000296603.4																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1069-1074)tca>tc		LMBR1 domain containing 2																																				SO:0001651	inframe_deletion	92255					integral to membrane		g.chr5:36122429_36122431delGGC		CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.1071_1073delGCC	5.37:g.36122429_36122431delGGC	ENSP00000296603:p.Pro358del						p.SP357del	NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		9	1533_1535	-	all_lung(31;0.000146)		357					B3KRB6|Q9NTC7	In_Frame_Del	DEL	ENST00000296603.4	37	c.1071_1073delGCC	CCDS34145.1																																																																																				0.300	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1	NM_001007527		12	104						12	104	---	---	---	---
PDCD2	5134	broad.mit.edu	37	6	170888047	170888048	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr6:170888047_170888048insT	ENST00000541970.1	-	5	851_852	c.773_774insA	c.(772-774)tatfs	p.Y258fs	PDCD2_ENST00000392090.2_Frame_Shift_Ins_p.Y225fs|PDCD2_ENST00000542896.1_Frame_Shift_Ins_p.Y258fs	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	258					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		TACCTCTGCCATATCTAAGAAT	0.376																																					Colon(60;1476 1726 39478)	ENST00000541970.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9						c.(772-774)tggfs		programmed cell death 2																																				SO:0001589	frameshift_variant	5134				apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:170888047_170888048insT	AJ420535	CCDS5316.1, CCDS47521.1, CCDS56460.1, CCDS56461.1, CCDS56462.1, CCDS75557.1	6q27	2008-02-05			ENSG00000071994	ENSG00000071994		"""Zinc fingers, MYND-type"""	8762	protein-coding gene	gene with protein product		600866				7606924	Standard	NM_002598		Approved	ZMYND7, RP8	uc003qxw.3	Q16342	OTTHUMG00000016083	ENST00000541970.1:c.774dupA	6.37:g.170888048_170888048dupT	ENSP00000439467:p.Tyr258fs					PDCD2_ENST00000392090.2_Frame_Shift_Ins_p.W225fs|PDCD2_ENST00000542896.1_Frame_Shift_Ins_p.W258fs	p.W258fs	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)	5	851_852	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	258					E9PCU7|F5GYS7|Q58HM9|Q58HN0|Q9UH12	Frame_Shift_Ins	INS	ENST00000541970.1	37	c.773_774insA	CCDS5316.1																																																																																				0.376	PDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043269.2	NM_002598		13	108						13	108	---	---	---	---
MTMR7	9108	broad.mit.edu	37	8	17206567	17206569	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr8:17206567_17206569delTTC	ENST00000180173.5	-	5	524_526	c.490_492delGAA	c.(490-492)gaadel	p.E164del	MTMR7_ENST00000523571.1_5'UTR|MTMR7_ENST00000521857.1_In_Frame_Del_p.E164del	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	164	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GAACGTACAGTTCAGTAGGATAA	0.453																																						ENST00000180173.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(490-492)del		myotubularin related protein 7																																				SO:0001651	inframe_deletion	9108						protein tyrosine phosphatase activity	g.chr8:17206567_17206569delTTC	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.490_492delGAA	8.37:g.17206567_17206569delTTC	ENSP00000180173:p.Glu164del					MTMR7_ENST00000523571.1_5'UTR|MTMR7_ENST00000521857.1_In_Frame_Del_p.E164del	p.E164del	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	5	524_526	-			164			Myotubularin phosphatase.		A1L4K9|B4DG87|Q68DX4	In_Frame_Del	DEL	ENST00000180173.5	37	c.490_492delGAA	CCDS34851.1																																																																																				0.453	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		13	210						13	210	---	---	---	---
HAS2	3037	broad.mit.edu	37	8	122641022	122641023	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr8:122641022_122641023insT	ENST00000303924.4	-	2	1095_1096	c.558_559insA	c.(556-561)aaatggfs	p.W187fs		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	187					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTCCACCCCATTTTTGCATGA	0.465																																						ENST00000303924.4																		HAS2/PLAG1(10)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(556-561)aaggggfs		hyaluronan synthase 2																																				SO:0001589	frameshift_variant	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122641022_122641023insT	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.559dupA	8.37:g.122641027_122641027dupT	ENSP00000306991:p.Trp187fs						p.KG186fs	NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	1095_1096	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		186					Q32MM3	Frame_Shift_Ins	INS	ENST00000303924.4	37	c.558_559insA	CCDS6335.1																																																																																				0.465	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		98	313						98	313	---	---	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832|rs201838505	byFrequency	TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr9:138715799_138715800insT	ENST00000389532.4	-	10	1460_1461	c.1396_1397insA	c.(1396-1398)accfs	p.T466fs	CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.T188fs|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.T477fs	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	466					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.46																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(1396-1398)cagfs		calmodulin regulated spectrin-associated protein 1																																				SO:0001589	frameshift_variant	157922					cytoplasm|microtubule		g.chr9:138715799_138715800insT	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1397dupA	9.37:g.138715808_138715808dupT	ENSP00000374183:p.Thr466fs					CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs	p.Q466fs	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	10	1460_1461	-			466					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Frame_Shift_Ins	INS	ENST00000389532.4	37	c.1396_1397insA	CCDS35176.2																																																																																				0.460	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		5	11						5	11	---	---	---	---
AGAP11	119385	broad.mit.edu	37	10	88767879	88767880	+	RNA	INS	-	-	T	rs566039292|rs71019447	byFrequency	TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr10:88767879_88767880insT	ENST00000444431.1	+	0	2711				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.10_ENST00000451760.1_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										ttttttctttcttttttttttt	0.455													|||unknown(HR)	2321	0.463458	0.4849	0.4063	5008	,	,		12642	0.6746		0.3728	False		,,,				2504	0.3507					ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11																																						119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88767879_88767880insT			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88767890_88767890dupT						RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	2711	+								B9EIP7|D3DWE4	RNA	INS	ENST00000444431.1	37																																																																																						0.455	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		5	1						5	1	---	---	---	---
ANKLE2	23141	broad.mit.edu	37	12	133303901	133303901	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr12:133303901delG	ENST00000357997.5	-	13	2833	c.2744delC	c.(2743-2745)cctfs	p.P915fs	ANKLE2_ENST00000542282.1_Frame_Shift_Del_p.P270fs|ANKLE2_ENST00000542657.1_Frame_Shift_Del_p.P270fs|ANKLE2_ENST00000539605.1_Frame_Shift_Del_p.P853fs|ANKLE2_ENST00000542374.1_5'UTR	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	915					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GTAGCGCCCAGGACTGCCCAG	0.657																																						ENST00000539605.1																			0				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(2557-2559)ctfs		ankyrin repeat and LEM domain containing 2							17.0	19.0	18.0					12																	133303901		1999	4135	6134	SO:0001589	frameshift_variant	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133303901delG	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.2744delC	12.37:g.133303901delG	ENSP00000350686:p.Pro915fs					ANKLE2_ENST00000357997.5_Frame_Shift_Del_p.P915fs|ANKLE2_ENST00000542374.1_5'UTR|ANKLE2_ENST00000542657.1_Frame_Shift_Del_p.P270fs|ANKLE2_ENST00000542282.1_Frame_Shift_Del_p.P270fs	p.P853fs			Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	12	9242	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	915					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Frame_Shift_Del	DEL	ENST00000357997.5	37	c.2558delC	CCDS41869.1																																																																																				0.657	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			2	4						2	4	---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30531249	30531251	+	In_Frame_Del	DEL	GCT	GCT	-	rs374222520		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr16:30531249_30531251delGCT	ENST00000356798.6	+	30	3480_3482	c.3300_3302delGCT	c.(3298-3303)gggctg>ggg	p.L1106del	ITGAL_ENST00000358164.5_In_Frame_Del_p.L1022del|ITGAL_ENST00000433423.2_In_Frame_Del_p.L340del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1106					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GCATCGGGGGGCTGCTGCTGCTG	0.601																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(3298-3303)ggg>gg		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)																																			SO:0001651	inframe_deletion	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30531249_30531251delGCT		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.3300_3302delGCT	16.37:g.30531258_30531260delGCT	ENSP00000349252:p.Leu1106del					ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del|ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del	p.GL1100del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			30	3480_3482	+			1100					O43746|Q45H73|Q96HB1|Q9UBC8	In_Frame_Del	DEL	ENST00000356798.6	37	c.3300_3302delGCT	CCDS32433.1																																																																																				0.601	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			7	295						7	295	---	---	---	---
ELP5	23587	broad.mit.edu	37	17	7157966	7157966	+	Frame_Shift_Del	DEL	G	G	-	rs528401635		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr17:7157966delG	ENST00000396628.2	+	4	518	c.301delG	c.(301-303)gggfs	p.G102fs	CTDNEP1_ENST00000574322.1_5'Flank|ELP5_ENST00000574255.1_Frame_Shift_Del_p.G102fs|CTDNEP1_ENST00000572043.1_5'Flank|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000574993.1_Frame_Shift_Del_p.G102fs|CTDNEP1_ENST00000318988.6_5'Flank|ELP5_ENST00000356683.2_Frame_Shift_Del_p.G102fs|ELP5_ENST00000396627.2_Frame_Shift_Del_p.G102fs|ELP5_ENST00000354429.2_Frame_Shift_Del_p.G102fs|CTDNEP1_ENST00000573600.1_5'Flank|ELP5_ENST00000573657.1_Frame_Shift_Del_p.G102fs	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5	102					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Elongator holoenzyme complex (GO:0033588)|nucleus (GO:0005634)											GGCCTTTCCTGGGGGGCCGCT	0.512																																						ENST00000574993.1																			0											c.(301-303)ggfs		elongator acetyltransferase complex subunit 5							66.0	61.0	63.0					17																	7157966		2203	4300	6503	SO:0001589	frameshift_variant	23587							g.chr17:7157966delG	BC002762	CCDS11094.1, CCDS11095.1	17p13.1	2012-08-14	2012-08-08	2012-08-08	ENSG00000170291	ENSG00000170291		"""Elongator acetyltransferase complex subunits"""	30617	protein-coding gene	gene with protein product	"""dermal papilla derived protein 6"", ""S-phase 2 protein"""	615019	"""chromosome 17 open reading frame 81"""	C17orf81		22854966	Standard	NM_203415		Approved	DERP6	uc002gfi.1	Q8TE02	OTTHUMG00000177974	ENST00000396628.2:c.301delG	17.37:g.7157966delG	ENSP00000379869:p.Gly102fs					ELP5_ENST00000354429.2_Frame_Shift_Del_p.G102fs|ELP5_ENST00000396627.2_Frame_Shift_Del_p.G102fs|ELP5_ENST00000573657.1_Frame_Shift_Del_p.G102fs|ELP5_ENST00000574255.1_Frame_Shift_Del_p.G102fs|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000356683.2_Frame_Shift_Del_p.G102fs|ELP5_ENST00000396628.2_Frame_Shift_Del_p.G102fs	p.G102fs							4	518	+								A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Frame_Shift_Del	DEL	ENST00000396628.2	37	c.301delG	CCDS11094.1																																																																																				0.512	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440111.1	NM_015362		9	67						9	67	---	---	---	---
BIK	638	broad.mit.edu	37	22	43525245	43525247	+	In_Frame_Del	DEL	GCT	GCT	-	rs542081559		TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chr22:43525245_43525247delGCT	ENST00000216115.2	+	5	480_482	c.417_419delGCT	c.(415-420)gcgctg>gcg	p.L144del		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	144	Leucine-zipper. {ECO:0000255}.				apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				tgctgctggcgctgctgctgctg	0.724																																						ENST00000216115.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5						c.(415-420)gcg>gc		BCL2-interacting killer (apoptosis-inducing)				9,134,3841		1,0,7,18,98,1868						-8.8	0.0			26	9,256,7523		1,0,7,46,164,3676	no	codingComplex	BIK	NM_001197.4		2,0,14,64,262,5544	A1A1,A1A2,A1R,A2A2,A2R,RR		3.4027,3.5894,3.4659				18,390,11364				SO:0001651	inframe_deletion	638				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane		g.chr22:43525245_43525247delGCT	U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.417_419delGCT	22.37:g.43525254_43525256delGCT	ENSP00000216115:p.Leu144del						p.AL139del	NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN			5	480_482	+		Ovarian(80;0.0694)	139			Leucine-zipper (Potential).		Q16582|Q6FH93	In_Frame_Del	DEL	ENST00000216115.2	37	c.417_419delGCT	CCDS14044.1																																																																																				0.724	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319676.1	NM_001197		7	103						7	103	---	---	---	---
MAP3K15	389840	broad.mit.edu	37	X	19416433	19416433	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:19416433delC	ENST00000338883.4	-	15	1976	c.1977delG	c.(1975-1977)gggfs	p.G659fs	MAP3K15_ENST00000359173.3_Frame_Shift_Del_p.G94fs|MAP3K15_ENST00000469203.2_Frame_Shift_Del_p.G491fs|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	659	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					ACGTGCCTTTCCCCAAGACAA	0.463																																						ENST00000338883.4																			0				NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1975-1977)ggfs		mitogen-activated protein kinase kinase kinase 15							197.0	179.0	186.0					X																	19416433		2203	4300	6503	SO:0001589	frameshift_variant	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19416433delC	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.1977delG	X.37:g.19416433delC	ENSP00000345629:p.Gly659fs					MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Frame_Shift_Del_p.G491fs|MAP3K15_ENST00000359173.3_Frame_Shift_Del_p.G94fs	p.G659fs	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN			15	1976	-	Hepatocellular(33;0.183)		659			Protein kinase.		A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Frame_Shift_Del	DEL	ENST00000338883.4	37	c.1977delG																																																																																					0.463	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		29	202						29	202	---	---	---	---
MAGEA10	4109	broad.mit.edu	37	X	151303851	151303851	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P3-A6T5-01A-11D-A34J-08	TCGA-P3-A6T5-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66fbf537-8f7d-496c-9532-da3794671124	96e888d8-e882-4837-b411-0cd785fe2408	g.chrX:151303851delG	ENST00000370323.4	-	4	558	c.242delC	c.(241-243)ccafs	p.P81fs	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Frame_Shift_Del_p.P81fs	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	81						nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGGATTTGGTGTCTCATC	0.537																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(241-243)cafs		melanoma antigen family A, 10							149.0	149.0	149.0					X																	151303851		2203	4300	6503	SO:0001589	frameshift_variant	4109							g.chrX:151303851delG		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.242delC	X.37:g.151303851delG	ENSP00000359347:p.Pro81fs					RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Frame_Shift_Del_p.P81fs	p.P81fs	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	558	-	Acute lymphoblastic leukemia(192;6.56e-05)		81						Frame_Shift_Del	DEL	ENST00000370323.4	37	c.242delC	CCDS14705.1																																																																																				0.537	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		29	187						29	187	---	---	---	---
