#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
DCN	1634	broad.mit.edu	37	12	91546948	91546948	+	Missense_Mutation	SNP	G	G	A	rs144174426		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr12:91546948G>A	ENST00000052754.5	-	6	1172	c.671C>T	c.(670-672)aCg>aTg	p.T224M	DCN_ENST00000547568.2_Missense_Mutation_p.T77M|DCN_ENST00000303320.3_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000425043.1_Missense_Mutation_p.T77M|DCN_ENST00000420120.2_Missense_Mutation_p.T115M|DCN_ENST00000552962.1_Missense_Mutation_p.T224M|DCN_ENST00000228329.5_Missense_Mutation_p.T115M|DCN_ENST00000441303.2_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.T224M	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	224					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)	p.T224M(1)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ATGTAATTCCGTAAGGGAAGG	0.348																																						ENST00000052754.5																			1	Substitution - Missense(1)	p.T224M(1)	large_intestine(1)	central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						c.(670-672)aCg>aTg		decorin		G	MET/THR,MET/THR,MET/THR,MET/THR,,	0,4406		0,0,2203	124.0	118.0	120.0		671,671,344,230,,	3.4	0.9	12	dbSNP_134	120	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense,intron,intron	DCN	NM_001920.3,NM_133503.2,NM_133504.2,NM_133505.2,NM_133506.2,NM_133507.2	81,81,81,81,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,,	224/360,224/360,115/251,77/213,,	91546948	3,13003	2203	4300	6503	SO:0001583	missense	1634				organ morphogenesis	extracellular space		g.chr12:91546948G>A	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.671C>T	12.37:g.91546948G>A	ENSP00000052754:p.Thr224Met					DCN_ENST00000456569.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.T224M|DCN_ENST00000547568.2_Missense_Mutation_p.T77M|DCN_ENST00000552962.1_Missense_Mutation_p.T224M|DCN_ENST00000420120.2_Missense_Mutation_p.T115M|DCN_ENST00000425043.1_Missense_Mutation_p.T77M|DCN_ENST00000228329.5_Missense_Mutation_p.T115M	p.T224M	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN			6	1172	-			224					Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	c.671C>T	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881672	0.51908	0.0	3.49E-4	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000547568;ENST00000546391	T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.33	3.44	0.39384	.	0.219992	0.47455	D	0.000223	T	0.70806	0.3266	M	0.62016	1.91	0.46028	D	0.998829	D;D;D	0.89917	0.993;0.998;1.0	P;D;D	0.66716	0.709;0.933;0.946	T	0.68914	-0.5283	10	0.33940	T	0.23	.	15.7442	0.77926	0.0:0.2576:0.7424:0.0	.	224;77;115	P07585;P07585-3;P07585-2	PGS2_HUMAN;.;.	M	224;115;224;77;224;115;77;77	ENSP00000052754:T224M;ENSP00000228329:T115M;ENSP00000376862:T224M;ENSP00000401021:T77M;ENSP00000447654:T224M;ENSP00000413723:T115M;ENSP00000447674:T77M;ENSP00000446530:T77M	ENSP00000052754:T224M	T	-	2	0	DCN	90071079	1.000000	0.71417	0.939000	0.37840	0.920000	0.55202	4.746000	0.62133	0.580000	0.29522	0.591000	0.81541	ACG		0.348	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		7	122	0	0	0	1	0	7	122				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	0							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	67	0	0	0	1	0	3	67				
OR4A16	81327	broad.mit.edu	37	11	55111416	55111416	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:55111416T>C	ENST00000314721.2	+	1	790	c.740T>C	c.(739-741)cTc>cCc	p.L247P		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTGGTTGCCCTCGTTTTTGTT	0.398																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(739-741)cTc>cCc		olfactory receptor, family 4, subfamily A, member 16							166.0	155.0	159.0					11																	55111416		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111416T>C	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.740T>C	11.37:g.55111416T>C	ENSP00000325128:p.Leu247Pro						p.L247P	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	790	+			247					Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.740T>C	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	t	9.719	1.159246	0.21454	.	.	ENSG00000181961	ENST00000314721	T	0.00302	8.2	2.86	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01156	0.0038	H	0.98295	4.195	0.20489	N	0.999897	D	0.89917	1.0	D	0.87578	0.998	T	0.23833	-1.0177	9	0.87932	D	0	.	9.1065	0.36701	0.0:0.0:0.0:1.0	.	247	Q8NH70	O4A16_HUMAN	P	247	ENSP00000325128:L247P	ENSP00000325128:L247P	L	+	2	0	OR4A16	54867992	0.023000	0.18921	0.665000	0.29768	0.241000	0.25554	2.238000	0.43070	1.312000	0.45043	0.346000	0.21813	CTC		0.398	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		16	41	0	0	0	1	0	16	41				
ROR2	4920	broad.mit.edu	37	9	94499693	94499693	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:94499693T>C	ENST00000375708.3	-	5	800	c.602A>G	c.(601-603)gAg>gGg	p.E201G	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.E61G	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	201	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTTTTCAATCTCCCCCTGCAT	0.537																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(601-603)gAg>gGg		receptor tyrosine kinase-like orphan receptor 2							160.0	124.0	136.0					9																	94499693		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94499693T>C	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.602A>G	9.37:g.94499693T>C	ENSP00000364860:p.Glu201Gly					ROR2_ENST00000375715.1_Missense_Mutation_p.E61G|ROR2_ENST00000550066.1_5'UTR	p.E201G	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			5	800	-			201			FZ.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.602A>G	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167459	0.78339	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.79033	-1.23;-1.23	4.42	4.42	0.53409	Frizzled domain (2);	0.000000	0.42548	D	0.000688	D	0.83216	0.5206	L	0.47716	1.5	0.80722	D	1	P;D;P	0.89917	0.933;1.0;0.943	P;D;P	0.83275	0.707;0.996;0.739	T	0.82078	-0.0635	10	0.34782	T	0.22	.	14.1308	0.65253	0.0:0.0:0.0:1.0	.	201;201;61	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	G	61;201	ENSP00000364867:E61G;ENSP00000364860:E201G	ENSP00000364860:E201G	E	-	2	0	ROR2	93539514	1.000000	0.71417	0.998000	0.56505	0.854000	0.48673	7.731000	0.84895	1.969000	0.57287	0.533000	0.62120	GAG		0.537	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			3	146	0	0	0	1	0	3	146				
TNFSF14	8740	broad.mit.edu	37	19	6670062	6670062	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr19:6670062G>A	ENST00000599359.1	-	2	400	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	TNFSF14_ENST00000245912.3_Missense_Mutation_p.R7W|TNFSF14_ENST00000326176.9_Missense_Mutation_p.R7W			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	7					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						ACTGAGGGCCGTACGACACTC	0.602																																						ENST00000326176.9																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(19-21)Cgg>Tgg		tumor necrosis factor (ligand) superfamily, member 14							105.0	80.0	88.0					19																	6670062		2203	4300	6503	SO:0001583	missense	0				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6670062G>A	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.19C>T	19.37:g.6670062G>A	ENSP00000469049:p.Arg7Trp					TNFSF14_ENST00000599359.1_Missense_Mutation_p.R7W|TNFSF14_ENST00000245912.3_Missense_Mutation_p.R7W	p.R7W	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN			2	400	-			7					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	c.19C>T	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.085940	0.55861	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	T;T	0.36157	1.27;1.27	5.04	1.5	0.22942	.	2.013580	0.02837	N	0.127495	T	0.51278	0.1665	L	0.57536	1.79	0.09310	N	1	D;D	0.65815	0.991;0.995	P;P	0.53861	0.549;0.736	T	0.42682	-0.9437	10	0.59425	D	0.04	-2.3783	11.0599	0.47942	0.0:0.0:0.4536:0.5464	.	7;7	O43557;O43557-2	TNF14_HUMAN;.	W	7	ENSP00000245912:R7W;ENSP00000326940:R7W	ENSP00000245912:R7W	R	-	1	2	TNFSF14	6621062	0.001000	0.12720	0.010000	0.14722	0.022000	0.10575	0.737000	0.26144	0.160000	0.19432	0.563000	0.77884	CGG		0.602	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			4	89	0	0	0	1	0	4	89				
LMLN	89782	broad.mit.edu	37	3	197707307	197707307	+	Silent	SNP	C	C	T	rs566428236		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:197707307C>T	ENST00000330198.4	+	6	682	c.660C>T	c.(658-660)acC>acT	p.T220T	LMLN_ENST00000420910.2_Silent_p.T220T|LMLN_ENST00000482695.1_Silent_p.T168T|LMLN_ENST00000332636.5_Silent_p.T168T	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	220					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.T220T(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CTCTGGCCACCGAGAGATGCA	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18088	0.0		0.0	False		,,,				2504	0.0					ENST00000330198.4																			1	Substitution - coding silent(1)	p.T220T(1)	lung(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(658-660)acC>acT		leishmanolysin-like (metallopeptidase M8 family)							156.0	146.0	149.0					3																	197707307		2203	4300	6503	SO:0001819	synonymous_variant	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197707307C>T	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.660C>T	3.37:g.197707307C>T						LMLN_ENST00000420910.2_Silent_p.T220T|LMLN_ENST00000332636.5_Silent_p.T168T|LMLN_ENST00000482695.1_Silent_p.T168T	p.T220T	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	6	682	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	220					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Silent	SNP	ENST00000330198.4	37	c.660C>T	CCDS3332.1																																																																																				0.502	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		5	203	0	0	0	1	0	5	203				
SH3GL2	6456	broad.mit.edu	37	9	17795580	17795580	+	Missense_Mutation	SNP	G	G	A	rs139383722		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:17795580G>A	ENST00000380607.4	+	9	1018	c.898G>A	c.(898-900)Gac>Aac	p.D300N	SH3GL2_ENST00000537391.1_Missense_Mutation_p.D253N	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	300	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of receptor internalization (GO:0002090)|signal transduction (GO:0007165)|synaptic vesicle endocytosis (GO:0048488)	clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.D300N(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AGCTCTGTACGACTTTGAACC	0.463																																						ENST00000380607.4																			1	Substitution - Missense(1)	p.D300N(1)	skin(1)	NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26						c.(898-900)Gac>Aac		SH3-domain GRB2-like 2							97.0	92.0	93.0					9																	17795580		2203	4300	6503	SO:0001583	missense	6456				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	g.chr9:17795580G>A	X99657	CCDS6483.1	9p22	2008-02-05			ENSG00000107295	ENSG00000107295			10831	protein-coding gene	gene with protein product		604465				9169142	Standard	XM_005251549		Approved	SH3P4, SH3D2A, CNSA2, EEN-B1	uc003zna.3	Q99962	OTTHUMG00000019601	ENST00000380607.4:c.898G>A	9.37:g.17795580G>A	ENSP00000369981:p.Asp300Asn					SH3GL2_ENST00000537391.1_Missense_Mutation_p.D253N	p.D300N	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN		GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)	9	1018	+			300			SH3.		B2R618|Q9NQK5	Missense_Mutation	SNP	ENST00000380607.4	37	c.898G>A	CCDS6483.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664370	0.88251	.	.	ENSG00000107295	ENST00000541215;ENST00000380607;ENST00000537391	T;T	0.56776	0.44;0.44	5.7	4.81	0.61882	Src homology-3 domain (4);Spectrin alpha chain, SH3 domain (1);Variant SH3 (1);	0.276491	0.37715	N	0.001970	T	0.67192	0.2867	M	0.73217	2.22	0.80722	D	1	D	0.61697	0.99	P	0.58577	0.841	T	0.70934	-0.4737	10	0.56958	D	0.05	.	14.7852	0.69796	0.0693:0.0:0.9307:0.0	.	300	Q99962	SH3G2_HUMAN	N	129;300;253	ENSP00000369981:D300N;ENSP00000443365:D253N	ENSP00000369981:D300N	D	+	1	0	SH3GL2	17785580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.937000	0.87672	1.419000	0.47118	0.561000	0.74099	GAC		0.463	SH3GL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051796.1	NM_003026		25	36	0	0	0	1	0	25	36				
AK8	158067	broad.mit.edu	37	9	135730311	135730311	+	Splice_Site	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:135730311G>A	ENST00000298545.3	-	5	856	c.335C>T	c.(334-336)aCa>aTa	p.T112I	AK8_ENST00000477396.1_5'UTR|RNU6-357P_ENST00000515914.1_RNA	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	112	Adenylate kinase 1.|NMPbind 1. {ECO:0000250}.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						GCTGGGAACTGTCTGAAGGAA	0.567																																						ENST00000298545.3																			0				NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						c.e5-1		adenylate kinase 8							114.0	89.0	97.0					9																	135730311		2203	4300	6503	SO:0001630	splice_region_variant	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135730311G>A	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.334-1C>T	9.37:g.135730311G>A						AK8_ENST00000477396.1_5'UTR	p.T112_splice	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN			5	856	-			112					A8K821|Q8N9W9	Splice_Site	SNP	ENST00000298545.3	37	c.333_splice	CCDS6954.1	.	.	.	.	.	.	.	.	.	.	G	4.766	0.142460	0.09083	.	.	ENSG00000165695	ENST00000298545	T	0.74632	-0.86	3.49	-6.99	0.01605	.	1.563310	0.04102	N	0.313039	T	0.53932	0.1827	N	0.25485	0.75	0.09310	N	1	B	0.13145	0.007	B	0.17979	0.02	T	0.35649	-0.9780	10	0.39692	T	0.17	-0.1219	0.6199	0.00776	0.2645:0.1993:0.1265:0.4097	.	112	Q96MA6	KAD8_HUMAN	I	112	ENSP00000298545:T112I	ENSP00000298545:T112I	T	-	2	0	AK8	134720132	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.427000	0.01026	-2.746000	0.00377	-0.424000	0.05967	ACA		0.567	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572	Missense_Mutation	4	64	0	0	0	1	0	4	64				
OPA1	4976	broad.mit.edu	37	3	193360822	193360822	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:193360822G>A	ENST00000392438.3	+	11	1358	c.1124G>A	c.(1123-1125)tGt>tAt	p.C375Y	OPA1_ENST00000361828.2_Missense_Mutation_p.C393Y|OPA1_ENST00000361715.2_Missense_Mutation_p.C394Y|OPA1_ENST00000361908.3_Missense_Mutation_p.C412Y|OPA1_ENST00000361510.2_Missense_Mutation_p.C430Y|OPA1_ENST00000361150.2_Missense_Mutation_p.C376Y	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	375	Dynamin-type G.				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)		AAAGAAGGCTGTACCGTTAGC	0.323																																						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.(1288-1290)tGt>tAt		optic atrophy 1 (autosomal dominant)							72.0	74.0	74.0					3																	193360822		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.chr3:193360822G>A	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.1124G>A	3.37:g.193360822G>A	ENSP00000376233:p.Cys375Tyr					OPA1_ENST00000361715.2_Missense_Mutation_p.C394Y|OPA1_ENST00000392438.3_Missense_Mutation_p.C375Y|OPA1_ENST00000361828.2_Missense_Mutation_p.C393Y|OPA1_ENST00000361908.3_Missense_Mutation_p.C412Y|OPA1_ENST00000361150.2_Missense_Mutation_p.C376Y	p.C430Y	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)	13	1523	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		375		Missing (in OPA1).|N -> D (in OPA1).			D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.1289G>A	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020144	0.35606	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1;-4.1	5.52	2.67	0.31697	Dynamin, GTPase domain (2);	0.309982	0.40469	N	0.001094	D	0.87799	0.6268	N	0.03608	-0.345	0.37900	D	0.931007	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.10450	0.0;0.002;0.005;0.0;0.003;0.005;0.002;0.005	T	0.81982	-0.0683	10	0.59425	D	0.04	-2.2384	6.9094	0.24327	0.1561:0.1416:0.7023:0.0	.	339;375;357;376;393;412;394;430	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	Y	412;375;430;394;393;376	ENSP00000354681:C412Y;ENSP00000376233:C375Y;ENSP00000355324:C430Y;ENSP00000355311:C394Y;ENSP00000354429:C393Y;ENSP00000354781:C376Y	ENSP00000354781:C376Y	C	+	2	0	OPA1	194843516	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.497000	0.53295	0.664000	0.31047	-0.251000	0.11542	TGT		0.323	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		3	44	0	0	0	1	0	3	44				
BUB1	699	broad.mit.edu	37	2	111398886	111398886	+	Silent	SNP	G	G	A	rs546139108		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:111398886G>A	ENST00000302759.6	-	22	2899	c.2781C>T	c.(2779-2781)aaC>aaT	p.N927N	BUB1_ENST00000535254.1_Silent_p.N907N|BUB1_ENST00000478175.1_5'Flank|BUB1_ENST00000409311.1_Intron	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	927	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ACACTTGCCCGTTTCCAAGTA	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		19646	0.001		0.0	False		,,,				2504	0.0					ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(2719-2721)aaC>aaT		BUB1 mitotic checkpoint serine/threonine kinase							120.0	117.0	118.0					2																	111398886		2203	4300	6503	SO:0001819	synonymous_variant	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111398886G>A	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.2781C>T	2.37:g.111398886G>A						BUB1_ENST00000409311.1_Intron|BUB1_ENST00000302759.6_Silent_p.N927N	p.N907N	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	21	2788	-		Ovarian(717;0.0822)	927			Protein kinase.		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	ENST00000302759.6	37	c.2721C>T	CCDS33273.1																																																																																				0.383	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		4	109	0	0	0	1	0	4	109				
MUC17	140453	broad.mit.edu	37	7	100679973	100679973	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:100679973C>T	ENST00000306151.4	+	3	5340	c.5276C>T	c.(5275-5277)aCg>aTg	p.T1759M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1759	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGCACCACGCCGGTACTC	0.502																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(5275-5277)aCg>aTg		mucin 17, cell surface associated							285.0	298.0	294.0					7																	100679973		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679973C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5276C>T	7.37:g.100679973C>T	ENSP00000302716:p.Thr1759Met						p.T1759M	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	5340	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1759			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5276C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-2.930901	0.00053	.	.	ENSG00000169876	ENST00000306151	T	0.02032	4.49	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.01156	0.0038	N	0.14661	0.345	0.09310	N	1	D	0.59357	0.985	B	0.37451	0.25	T	0.46428	-0.9192	8	0.49607	T	0.09	.	.	.	.	.	1759	Q685J3	MUC17_HUMAN	M	1759	ENSP00000302716:T1759M	ENSP00000302716:T1759M	T	+	2	0	MUC17	100466693	0.009000	0.17119	0.001000	0.08648	0.001000	0.01503	0.219000	0.17641	-3.552000	0.00142	-3.604000	0.00028	ACG		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		223	351	0	0	0	1	0	223	351				
HLA-DOA	3111	broad.mit.edu	37	6	32975227	32975227	+	Silent	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:32975227C>T	ENST00000229829.5	-	3	549	c.474G>A	c.(472-474)gtG>gtA	p.V158V	HLA-DOA_ENST00000450833.2_Silent_p.V128V|HLA-DOA_ENST00000495532.1_5'UTR	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	158	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						TGGTCTGGGCCACTCCCTCAG	0.577																																						ENST00000229829.5																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(472-474)gtG>gtA		major histocompatibility complex, class II, DO alpha							188.0	178.0	182.0					6																	32975227		1511	2709	4220	SO:0001819	synonymous_variant	3111				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32975227C>T	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.474G>A	6.37:g.32975227C>T						HLA-DOA_ENST00000495532.1_5'UTR|HLA-DOA_ENST00000450833.2_Silent_p.V128V	p.V158V	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN			3	549	-			158			Alpha-2.|Ig-like C1-type.		Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Silent	SNP	ENST00000229829.5	37	c.474G>A	CCDS4763.1																																																																																				0.577	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119		91	186	0	0	0	1	0	91	186				
FCHSD1	89848	broad.mit.edu	37	5	141023973	141023973	+	Missense_Mutation	SNP	C	C	T	rs199678864		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr5:141023973C>T	ENST00000435817.2	-	17	1725	c.1675G>A	c.(1675-1677)Gga>Aga	p.G559R	FCHSD1_ENST00000522783.1_Missense_Mutation_p.G485R|FCHSD1_ENST00000522126.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	559	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTCTGTCCGGTGTAGCTG	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		16351	0.0		0.001	False		,,,				2504	0.0					ENST00000435817.2																		FCHSD1/BRAF(2)	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1675-1677)Gga>Aga		FCH and double SH3 domains 1		C	ARG/GLY	0,3932		0,0,1966	33.0	36.0	35.0		1675	5.4	0.3	5		35	2,8320		0,2,4159	yes	missense	FCHSD1	NM_033449.2	125	0,2,6125	TT,TC,CC		0.024,0.0,0.0163	probably-damaging	559/691	141023973	2,12252	1966	4161	6127	SO:0001583	missense	89848							g.chr5:141023973C>T	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1675G>A	5.37:g.141023973C>T	ENSP00000399259:p.Gly559Arg					FCHSD1_ENST00000522126.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.G485R	p.G559R	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		17	1725	-			559			SH3 2.		Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	ENST00000435817.2	37	c.1675G>A	CCDS47295.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	26.9	4.778900	0.90195	0.0	2.4E-4	ENSG00000197948	ENST00000435817;ENST00000522783	T;T	0.51325	0.71;0.71	5.41	5.41	0.78517	Src homology-3 domain (3);Variant SH3 (1);	0.209985	0.37809	N	0.001926	T	0.66479	0.2793	L	0.55213	1.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.67288	-0.5708	10	0.87932	D	0	-22.1406	19.0358	0.92978	0.0:1.0:0.0:0.0	.	239;559	Q86WN1-2;Q86WN1	.;FCSD1_HUMAN	R	559;485	ENSP00000399259:G559R;ENSP00000428677:G485R	ENSP00000399259:G559R	G	-	1	0	FCHSD1	141004157	0.893000	0.30496	0.340000	0.25575	0.971000	0.66376	7.200000	0.77838	2.833000	0.97629	0.650000	0.86243	GGA		0.622	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449		20	23	0	0	0	1	0	20	23				
OR5K3	403277	broad.mit.edu	37	3	98109669	98109669	+	Missense_Mutation	SNP	C	C	T	rs150899692		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:98109669C>T	ENST00000383695.1	+	1	160	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TATAGAGCAACGTCTTCACAC	0.413																																						ENST00000383695.1																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(160-162)Cgt>Tgt		olfactory receptor, family 5, subfamily K, member 3							290.0	273.0	279.0					3																	98109669		2203	4300	6503	SO:0001583	missense	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98109669C>T		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.160C>T	3.37:g.98109669C>T	ENSP00000373194:p.Arg54Cys					RP11-325B23.2_ENST00000508616.1_lincRNA	p.R54C	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN			1	160	+			54						Missense_Mutation	SNP	ENST00000383695.1	37	c.160C>T	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	C	6.653	0.488949	0.12641	.	.	ENSG00000206536	ENST00000383695	T	0.01152	5.26	5.35	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	0.369644	0.19791	N	0.105984	T	0.01730	0.0055	L	0.55017	1.72	0.09310	N	1	B	0.28552	0.215	B	0.20955	0.032	T	0.39583	-0.9607	10	0.49607	T	0.09	-2.0386	12.2011	0.54326	0.0:0.916:0.0:0.084	.	54	A6NET4	OR5K3_HUMAN	C	54	ENSP00000373194:R54C	ENSP00000373194:R54C	R	+	1	0	OR5K3	99592359	0.000000	0.05858	0.024000	0.17045	0.155000	0.21991	0.715000	0.25822	1.371000	0.46172	0.603000	0.83216	CGT		0.413	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			95	178	0	0	0	1	0	95	178				
PRKD1	5587	broad.mit.edu	37	14	30105555	30105555	+	Silent	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr14:30105555G>A	ENST00000331968.5	-	7	1360	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	PRKD1_ENST00000415220.2_Silent_p.N385N|PRKD1_ENST00000551644.1_5'Flank	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	377					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CGCCACTGTCGTTCTGGCACT	0.542																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(1129-1131)aaC>aaT		protein kinase D1							380.0	283.0	316.0					14																	30105555		2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30105555G>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1131C>T	14.37:g.30105555G>A						PRKD1_ENST00000415220.2_Silent_p.N385N	p.N377N	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	7	1360	-	Hepatocellular(127;0.0604)		377					A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.1131C>T	CCDS9637.1																																																																																				0.542	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		97	173	0	0	0	1	0	97	173				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	0							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	171	0	0	0	1	0	8	171				
OPN5	221391	broad.mit.edu	37	6	47775993	47775993	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:47775993T>A	ENST00000371211.2	+	5	888	c.860T>A	c.(859-861)cTc>cAc	p.L287H	OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.L287H|OPN5_ENST00000489301.2_Missense_Mutation_p.L287H	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	287					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CCCATACAGCTCTCTGTGGTG	0.463																																					Melanoma(28;740 973 10870 42660 45347)	ENST00000489301.2																			0				endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						c.(859-861)cTc>cAc		opsin 5							289.0	258.0	268.0					6																	47775993		2203	4300	6503	SO:0001583	missense	221391				phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr6:47775993T>A	AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"""GPCR / Class A : Opsin receptors"""	19992	protein-coding gene	gene with protein product	"""neuropsin"""	609042	"""transmembrane protein 13"""	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.860T>A	6.37:g.47775993T>A	ENSP00000360255:p.Leu287His					OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.L287H|OPN5_ENST00000371211.2_Missense_Mutation_p.L287H	p.L287H			Q6U736	OPN5_HUMAN			5	945	+			287					A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Missense_Mutation	SNP	ENST00000371211.2	37	c.860T>A	CCDS4923.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.758229	0.89843	.	.	ENSG00000124818	ENST00000489301;ENST00000371211;ENST00000393699	T;T;T	0.41065	1.01;1.01;1.01	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.165679	0.53938	D	0.000046	T	0.39462	0.1079	L	0.39898	1.24	0.42735	D	0.993724	D	0.59767	0.986	P	0.56343	0.796	T	0.21999	-1.0229	10	0.44086	T	0.13	.	15.5564	0.76196	0.0:0.0:0.0:1.0	.	287	Q6U736	OPN5_HUMAN	H	287	ENSP00000426991:L287H;ENSP00000360255:L287H;ENSP00000377302:L287H	ENSP00000360255:L287H	L	+	2	0	OPN5	47883952	0.984000	0.35163	0.998000	0.56505	0.990000	0.78478	4.722000	0.61958	2.137000	0.66172	0.533000	0.62120	CTC		0.463	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359451.1	NM_181744		63	112	0	0	0	1	0	63	112				
C2orf43	60526	broad.mit.edu	37	2	21001131	21001131	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:21001131C>G	ENST00000237822.3	-	2	172	c.93G>C	c.(91-93)tgG>tgC	p.W31C	C2orf43_ENST00000419825.2_Missense_Mutation_p.W31C|C2orf43_ENST00000435420.2_Missense_Mutation_p.W31C|C2orf43_ENST00000541941.1_Intron|C2orf43_ENST00000440866.2_Missense_Mutation_p.W31C|C2orf43_ENST00000403006.2_Intron|C2orf43_ENST00000381090.3_Missense_Mutation_p.W31C	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	31										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGGTCTGTCCAGGGCCCAC	0.423																																						ENST00000237822.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						c.(91-93)tgG>tgC		chromosome 2 open reading frame 43							96.0	96.0	96.0					2																	21001131		2203	4300	6503	SO:0001583	missense	60526							g.chr2:21001131C>G	AK025473	CCDS1702.1, CCDS62864.1, CCDS74488.1, CCDS74489.1	2p24.1	2014-02-07			ENSG00000118961	ENSG00000118961			26145	protein-coding gene	gene with protein product		613570				17135363, 24357060	Standard	NM_001282723		Approved	FLJ21820	uc002rec.3	Q9H6V9	OTTHUMG00000122097	ENST00000237822.3:c.93G>C	2.37:g.21001131C>G	ENSP00000237822:p.Trp31Cys					C2orf43_ENST00000403006.2_Intron|C2orf43_ENST00000435420.2_Missense_Mutation_p.W31C|C2orf43_ENST00000440866.2_Missense_Mutation_p.W31C|C2orf43_ENST00000419825.2_Missense_Mutation_p.W31C|C2orf43_ENST00000541941.1_Intron|C2orf43_ENST00000381090.3_Missense_Mutation_p.W31C	p.W31C	NM_021925.2	NP_068744.1	Q9H6V9	CB043_HUMAN			2	172	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		31					B7ZA47|B7ZAJ5|D6W530|E7ESN0|Q53T37|Q53T58	Missense_Mutation	SNP	ENST00000237822.3	37	c.93G>C	CCDS1702.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.437532	0.43224	.	.	ENSG00000118961	ENST00000381090;ENST00000237822;ENST00000435420;ENST00000440866;ENST00000412261;ENST00000402479;ENST00000419825	.	.	.	5.93	5.06	0.68205	.	0.000000	0.64402	D	0.000004	T	0.75064	0.3799	L	0.55481	1.735	0.80722	D	1	B;B;B;D;B;B	0.89917	0.275;0.023;0.246;1.0;0.088;0.179	B;B;B;D;B;B	0.85130	0.108;0.031;0.088;0.997;0.045;0.076	T	0.74665	-0.3589	9	0.39692	T	0.17	-9.1214	16.231	0.82343	0.0:0.8668:0.1332:0.0	.	31;31;31;31;31;31	B4DS38;B4DRG3;B7ZAJ5;B4DWE2;Q9H6V9;B5MDU6	.;.;.;.;CB043_HUMAN;.	C	31	.	ENSP00000237822:W31C	W	-	3	0	C2orf43	20864612	1.000000	0.71417	1.000000	0.80357	0.298000	0.27526	4.748000	0.62148	1.520000	0.48965	0.555000	0.69702	TGG		0.423	C2orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242861.1	NM_021925		45	81	0	0	0	1	0	45	81				
SLC36A3	285641	broad.mit.edu	37	5	150663635	150663635	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr5:150663635G>A	ENST00000335230.3	-	8	1355	c.944C>T	c.(943-945)gCc>gTc	p.A315V	SLC36A3_ENST00000377713.3_Missense_Mutation_p.A356V	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	315						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGATGCTGGCCTGGGTGTC	0.498																																						ENST00000335230.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21						c.(943-945)gCc>gTc		solute carrier family 36, member 3							183.0	156.0	165.0					5																	150663635		2203	4300	6503	SO:0001583	missense	285641					integral to membrane		g.chr5:150663635G>A	AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.944C>T	5.37:g.150663635G>A	ENSP00000334750:p.Ala315Val					SLC36A3_ENST00000377713.3_Missense_Mutation_p.A356V	p.A315V	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	1355	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	315					Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Missense_Mutation	SNP	ENST00000335230.3	37	c.944C>T	CCDS4314.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177938	0.78564	.	.	ENSG00000186334	ENST00000335230;ENST00000377713	T;T	0.02301	4.35;4.35	4.2	3.33	0.38152	.	0.232691	0.43416	N	0.000572	T	0.12390	0.0301	M	0.84433	2.695	0.38534	D	0.949047	D;D;D	0.71674	0.995;0.996;0.998	D;D;D	0.71656	0.948;0.969;0.974	T	0.02098	-1.1214	10	0.59425	D	0.04	.	12.1572	0.54083	0.083:0.0:0.917:0.0	.	356;315;300	Q495N2-3;Q495N2;Q495N2-2	.;S36A3_HUMAN;.	V	315;356	ENSP00000334750:A315V;ENSP00000366942:A356V	ENSP00000334750:A315V	A	-	2	0	SLC36A3	150643828	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.847000	0.62867	1.133000	0.42147	0.655000	0.94253	GCC		0.498	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252436.1	NM_181774		5	160	0	0	0	1	0	5	160				
IL13RA1	3597	broad.mit.edu	37	X	117900529	117900529	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chrX:117900529A>G	ENST00000371666.3	+	7	932	c.865A>G	c.(865-867)Aga>Gga	p.R289G	IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	289	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin production (GO:0002639)	interleukin-13 receptor complex (GO:0005898)|plasma membrane (GO:0005886)	interleukin-13 receptor activity (GO:0016515)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AGAATTTGAGAGAAATGTGGA	0.338																																						ENST00000371666.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						c.(865-867)Aga>Gga		interleukin 13 receptor, alpha 1							94.0	89.0	90.0					X																	117900529		2203	4300	6503	SO:0001583	missense	3597					interleukin-13 receptor complex	cytokine receptor activity	g.chrX:117900529A>G	U62858	CCDS14573.1	Xq24	2008-02-05			ENSG00000131724	ENSG00000131724		"""Interleukins and interleukin receptors"", ""CD molecules"""	5974	protein-coding gene	gene with protein product	"""IL13 receptor alpha-1 chain"", ""CD213a1 antigen"""	300119				8910586, 9013879	Standard	NM_001560		Approved	IL-13Ra, NR4, CD213a1	uc004eqs.3	P78552	OTTHUMG00000022258	ENST00000371666.3:c.865A>G	X.37:g.117900529A>G	ENSP00000360730:p.Arg289Gly					IL13RA1_ENST00000481868.1_3'UTR	p.R289G	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN			7	932	+			289					O95646|Q5JSL4|Q99656|Q9UDY5	Missense_Mutation	SNP	ENST00000371666.3	37	c.865A>G	CCDS14573.1	.	.	.	.	.	.	.	.	.	.	A	2.627	-0.287240	0.05605	.	.	ENSG00000131724	ENST00000371666	D	0.89939	-2.59	4.16	3.18	0.36537	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.221100	0.05659	N	0.586519	T	0.79423	0.4443	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.62623	-0.6815	10	0.15499	T	0.54	0.0203	3.1441	0.06466	0.3727:0.0:0.6273:0.0	.	289;289	Q5JSL4;P78552	.;I13R1_HUMAN	G	289	ENSP00000360730:R289G	ENSP00000360730:R289G	R	+	1	2	IL13RA1	117784557	1.000000	0.71417	0.239000	0.24122	0.568000	0.35870	1.286000	0.33273	0.570000	0.29347	0.412000	0.27726	AGA		0.338	IL13RA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058009.1	NM_001560		5	55	0	0	0	1	0	5	55				
NUP205	23165	broad.mit.edu	37	7	135298930	135298930	+	Silent	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:135298930C>T	ENST00000285968.6	+	23	3245	c.3219C>T	c.(3217-3219)tgC>tgT	p.C1073C		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1073					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TATGTGCATGCTCTGATACAT	0.358																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(3217-3219)tgC>tgT		nucleoporin 205kDa							176.0	162.0	167.0					7																	135298930		2203	4300	6503	SO:0001819	synonymous_variant	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135298930C>T	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3219C>T	7.37:g.135298930C>T							p.C1073C	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			23	3245	+			1073					A6H8X3|Q86YC1	Silent	SNP	ENST00000285968.6	37	c.3219C>T	CCDS34759.1																																																																																				0.358	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			4	87	0	0	0	1	0	4	87				
MT-CO2	4513	broad.mit.edu	37	M	7919	7919	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chrM:7919G>C	ENST00000361739.1	+	1	334	c.334G>C	c.(334-336)Gac>Cac	p.D112H	MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	112					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						ACGAGTACACCGACTACGGCG	0.493																																						ENST00000361739.1																			0				endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						c.(334-336)Gac>Cac		mitochondrially encoded cytochrome c oxidase II																																				SO:0001583	missense	4513							g.chrM:7919G>C			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.334G>C	M.37:g.7919G>C	ENSP00000354876:p.Asp112His						p.D112H							1	334	+								Q37526	Missense_Mutation	SNP	ENST00000361739.1	37	c.334G>C																																																																																					0.493	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024029		3	23	0	0	0	1	0	3	23				
LRRC4B	94030	broad.mit.edu	37	19	51022537	51022537	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr19:51022537G>A	ENST00000599957.1	-	3	630	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	LRRC4B_ENST00000389201.3_Missense_Mutation_p.R145W			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	145					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTGGTCAGCCGGTTGTCAAAA	0.622																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(433-435)Cgg>Tgg		leucine rich repeat containing 4B							52.0	57.0	55.0					19																	51022537		2200	4298	6498	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51022537G>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.433C>T	19.37:g.51022537G>A	ENSP00000471502:p.Arg145Trp					LRRC4B_ENST00000389201.3_Missense_Mutation_p.R145W	p.R145W			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	630	-		all_neural(266;0.131)	145					Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.433C>T	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645346	0.47258	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	D	0.91631	-2.88	3.96	3.96	0.45880	.	0.000000	0.64402	U	0.000011	D	0.94440	0.8211	M	0.85777	2.775	0.52501	D	0.999959	D	0.62365	0.991	P	0.53649	0.731	D	0.94339	0.7569	10	0.45353	T	0.12	.	13.9104	0.63864	0.0:0.0:1.0:0.0	.	145	Q9NT99	LRC4B_HUMAN	W	145	ENSP00000373853:R145W	ENSP00000373853:R145W	R	-	1	2	LRRC4B	55714349	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.902000	0.56310	2.235000	0.73313	0.491000	0.48974	CGG		0.622	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		46	25	0	0	0	1	0	46	25				
MIR7162	102466227	broad.mit.edu	37	15	62539307	62539307	+	RNA	SNP	T	T	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr15:62539307T>A	ENST00000570077.1	-	0	282																											CCTCAACGTGTGCACCTGCCC	0.607																																						ENST00000570077.1																			0																																																			0							g.chr15:62539307T>A																													15.37:g.62539307T>A														0	282	-									RNA	SNP	ENST00000570077.1	37			.	.	.	.	.	.	.	.	.	.	T	3.767	-0.048479	0.07407	.	.	ENSG00000166104	ENST00000429274	.	.	.	1.85	-3.69	0.04450	.	.	.	.	.	T	0.17619	0.0423	.	.	.	.	.	.	P	0.38440	0.631	B	0.40901	0.343	T	0.25467	-1.0131	6	0.10377	T	0.69	.	3.3054	0.06998	0.2101:0.4467:0.0:0.3432	.	122	Q8N8X6-2	.	L	122	.	ENSP00000396161:H122L	H	-	2	0	AC126323.1	60326599	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.499000	0.02285	-1.242000	0.02523	0.241000	0.17934	CAC		0.607	hsa-mir-7162.1-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000422143.1			3	30	0	0	0	1	0	3	30				
GDF10	2662	broad.mit.edu	37	10	48426631	48426631	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:48426631T>C	ENST00000224605.2	-	3	1641	c.1376A>G	c.(1375-1377)aAt>aGt	p.N459S		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	459					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CACATTCCGATTCTCATCCAG	0.582											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000224605.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						c.(1375-1377)aAt>aGt		growth differentiation factor 10							140.0	139.0	140.0					10																	48426631		2203	4300	6503	SO:0001583	missense	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48426631T>C	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.1376A>G	10.37:g.48426631T>C	ENSP00000224605:p.Asn459Ser		OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	954		p.N459S	NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN			3	1641	-			459					Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	c.1376A>G	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	t	11.94	1.788836	0.31685	.	.	ENSG00000107623	ENST00000374247;ENST00000224605	T	0.63255	-0.03	5.92	3.55	0.40652	Transforming growth factor-beta, C-terminal (3);	0.409339	0.32328	N	0.006252	T	0.40040	0.1101	N	0.16098	0.37	0.25631	N	0.986307	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.18745	-1.0327	10	0.21540	T	0.41	.	8.4586	0.32915	0.0:0.2124:0.0:0.7876	.	269;459	Q8N6T2;P55107	.;BMP3B_HUMAN	S	269;459	ENSP00000224605:N459S	ENSP00000224605:N459S	N	-	2	0	GDF10	48046637	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.619000	0.36965	0.480000	0.27534	-0.266000	0.10368	AAT		0.582	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		9	203	0	0	0	1	0	9	203				
DPPA2	151871	broad.mit.edu	37	3	109028103	109028103	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:109028103G>A	ENST00000478945.1	-	4	502	c.256C>T	c.(256-258)Ccg>Tcg	p.P86S		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	86					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAAATGGTCGGCAAGGGAAGG	0.443																																						ENST00000478945.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(256-258)Ccg>Tcg		developmental pluripotency associated 2							149.0	147.0	148.0					3																	109028103		2203	4300	6503	SO:0001583	missense	151871					nucleus	nucleic acid binding	g.chr3:109028103G>A	AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.256C>T	3.37:g.109028103G>A	ENSP00000417710:p.Pro86Ser						p.P86S	NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN			4	502	-			86					Q8WVF0	Missense_Mutation	SNP	ENST00000478945.1	37	c.256C>T	CCDS2956.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722515	0.68959	.	.	ENSG00000163530	ENST00000478945	T	0.78595	-1.19	4.66	4.66	0.58398	.	0.000000	0.53938	D	0.000047	D	0.86736	0.6004	M	0.74467	2.265	0.35262	D	0.779669	D	0.89917	1.0	D	0.87578	0.998	D	0.90812	0.4702	10	0.87932	D	0	-22.8253	13.2475	0.60031	0.0:0.0:1.0:0.0	.	86	Q7Z7J5	DPPA2_HUMAN	S	86	ENSP00000417710:P86S	ENSP00000417710:P86S	P	-	1	0	DPPA2	110510793	0.999000	0.42202	0.946000	0.38457	0.043000	0.13939	3.743000	0.55104	2.591000	0.87537	0.561000	0.74099	CCG		0.443	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1	NM_138815		4	181	0	0	0	1	0	4	181				
ABCA13	154664	broad.mit.edu	37	7	48411941	48411941	+	Silent	SNP	A	A	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:48411941A>T	ENST00000435803.1	+	33	11004	c.10980A>T	c.(10978-10980)tcA>tcT	p.S3660S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3660					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGGGATGTCAGTCGTCATGC	0.458																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(10978-10980)tcA>tcT		ATP-binding cassette, sub-family A (ABC1), member 13							285.0	278.0	280.0					7																	48411941		2030	4197	6227	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48411941A>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10980A>T	7.37:g.48411941A>T							p.S3660S	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			33	11004	+			3660					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.10980A>T	CCDS47584.1																																																																																				0.458	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		6	266	0	0	0	1	0	6	266				
TSTA3	7264	broad.mit.edu	37	8	144696860	144696860	+	Missense_Mutation	SNP	T	T	C	rs199822261		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr8:144696860T>C	ENST00000425753.2	-	5	501	c.398A>G	c.(397-399)aAt>aGt	p.N133S	TSTA3_ENST00000529064.1_Missense_Mutation_p.N133S	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	133					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGAGGCCCATTGTGGATCTG	0.662																																						ENST00000425753.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9						c.(397-399)aAt>aGt		tissue specific transplantation antigen P35B	NADH(DB00157)						119.0	105.0	110.0					8																	144696860		2203	4300	6503	SO:0001583	missense	7264				'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	g.chr8:144696860T>C	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	12390	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 4E, member 1"", ""GDP-L-fucose synthase"""	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.398A>G	8.37:g.144696860T>C	ENSP00000398803:p.Asn133Ser					TSTA3_ENST00000529064.1_Missense_Mutation_p.N133S	p.N133S	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		5	501	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		133					B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Missense_Mutation	SNP	ENST00000425753.2	37	c.398A>G	CCDS6408.1	.	.	.	.	.	.	.	.	.	.	T	7.734	0.699825	0.15106	.	.	ENSG00000104522	ENST00000529064;ENST00000425753;ENST00000529048;ENST00000533817	.	.	.	4.68	4.68	0.58851	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.152030	0.64402	D	0.000015	T	0.43523	0.1251	L	0.28649	0.875	0.43708	D	0.996177	B	0.20368	0.044	B	0.24974	0.057	T	0.36432	-0.9748	9	0.39692	T	0.17	-26.4949	7.8442	0.29417	0.0:0.095:0.0:0.905	.	133	Q13630	FCL_HUMAN	S	133	.	ENSP00000398803:N133S	N	-	2	0	TSTA3	144768003	0.502000	0.26107	0.946000	0.38457	0.195000	0.23768	1.122000	0.31295	1.748000	0.51833	0.383000	0.25322	AAT		0.662	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	NM_003313		3	128	0	0	0	1	0	3	128				
TNN	63923	broad.mit.edu	37	1	175116175	175116175	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:175116175C>T	ENST00000239462.4	+	19	3981	c.3868C>T	c.(3868-3870)Cgg>Tgg	p.R1290W		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1290					axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGAAAGAAGCGGACGCTGAG	0.592											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(3868-3870)Cgg>Tgg		tenascin N							59.0	55.0	56.0					1																	175116175		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175116175C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3868C>T	1.37:g.175116175C>T	ENSP00000239462:p.Arg1290Trp		OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1921		p.R1290W	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	19	3981	+		Breast(1374;0.000962)	1290					B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3868C>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089186	0.76756	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.29655	1.56	5.47	-2.48	0.06423	.	0.058763	0.64402	D	0.000004	T	0.52108	0.1714	M	0.77820	2.39	0.39951	D	0.974549	D	0.89917	1.0	D	0.66979	0.948	T	0.65117	-0.6246	10	0.87932	D	0	.	17.3221	0.87238	0.8225:0.1775:0.0:0.0	.	1290	Q9UQP3	TENN_HUMAN	W	1290;1113	ENSP00000239462:R1290W	ENSP00000239462:R1290W	R	+	1	2	TNN	173382798	0.973000	0.33851	0.145000	0.22337	0.823000	0.46562	0.274000	0.18680	-0.261000	0.09405	-0.247000	0.11927	CGG		0.592	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		15	24	0	0	0	1	0	15	24				
GAREM	64762	broad.mit.edu	37	18	29848207	29848207	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr18:29848207T>C	ENST00000269209.6	-	6	2261	c.2258A>G	c.(2257-2259)gAa>gGa	p.E753G	GAREM_ENST00000399218.4_Missense_Mutation_p.E752G			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	753					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										CTTGGGGTCTTCCTCAGCACC	0.522																																						ENST00000399218.4																			0											c.(2254-2256)gAa>gGa		GRB2 associated, regulator of MAPK1							76.0	75.0	75.0					18																	29848207		2203	4300	6503	SO:0001583	missense	64762							g.chr18:29848207T>C	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.2258A>G	18.37:g.29848207T>C	ENSP00000269209:p.Glu753Gly					GAREM_ENST00000269209.6_Missense_Mutation_p.E753G	p.E752G	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					6	2310	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	c.2255A>G	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.424618	0.25639	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.15139	2.45;2.45	5.32	5.32	0.75619	.	0.360549	0.33023	N	0.005366	T	0.10766	0.0263	N	0.08118	0	0.42745	D	0.993758	B;B	0.17268	0.002;0.021	B;B	0.15484	0.004;0.013	T	0.11131	-1.0600	10	0.48119	T	0.1	-18.2788	15.3194	0.74109	0.0:0.0:0.0:1.0	.	753;752	Q9H706;Q9H706-3	FA59A_HUMAN;.	G	752;753	ENSP00000382165:E752G;ENSP00000269209:E753G	ENSP00000269209:E753G	E	-	2	0	FAM59A	28102205	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.437000	0.34991	2.011000	0.59026	0.529000	0.55759	GAA		0.522	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		38	48	0	0	0	1	0	38	48				
RANBP2	5903	broad.mit.edu	37	2	109382889	109382889	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:109382889A>G	ENST00000283195.6	+	20	6020	c.5894A>G	c.(5893-5895)gAc>gGc	p.D1965G		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1965					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GGCAAAAAAGACCCCAATTTC	0.388																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(5893-5895)gAc>gGc		RAN binding protein 2							66.0	79.0	75.0					2																	109382889		2139	4257	6396	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109382889A>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.5894A>G	2.37:g.109382889A>G	ENSP00000283195:p.Asp1965Gly						p.D1965G	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	6020	+			1965					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.5894A>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.948011	0.53186	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.30448	1.53	5.75	5.75	0.90469	.	.	.	.	.	T	0.52773	0.1755	M	0.66939	2.045	0.32666	N	0.517469	D	0.76494	0.999	D	0.64144	0.922	T	0.64964	-0.6283	9	0.59425	D	0.04	-25.8064	16.0628	0.80852	1.0:0.0:0.0:0.0	.	1965	P49792	RBP2_HUMAN	G	989;1965	ENSP00000283195:D1965G	ENSP00000283195:D1965G	D	+	2	0	RANBP2	108749321	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.410000	0.80065	2.189000	0.69895	0.455000	0.32223	GAC		0.388	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		13	295	0	0	0	1	0	13	295				
MYOM1	8736	broad.mit.edu	37	18	3135615	3135615	+	Silent	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr18:3135615G>A	ENST00000356443.4	-	15	2472	c.2139C>T	c.(2137-2139)cgC>cgT	p.R713R	MYOM1_ENST00000400569.3_Silent_p.R713R|MYOM1_ENST00000261606.7_Silent_p.R713R	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	713	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AATTAGAACAGCGGACACGGA	0.512																																						ENST00000356443.4																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2137-2139)cgC>cgT		myomesin 1							46.0	49.0	48.0					18																	3135615		1941	4138	6079	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3135615G>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2139C>T	18.37:g.3135615G>A						MYOM1_ENST00000261606.7_Silent_p.R713R|MYOM1_ENST00000400569.3_Silent_p.R713R	p.R713R	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			15	2472	-			713			Fibronectin type-III 2.		Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.2139C>T	CCDS45824.1																																																																																				0.512	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		3	52	0	0	0	1	0	3	52				
OBSCN	84033	broad.mit.edu	37	1	228432192	228432192	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:228432192C>A	ENST00000422127.1	+	11	3445	c.3401C>A	c.(3400-3402)cCa>cAa	p.P1134Q	OBSCN_ENST00000570156.2_Missense_Mutation_p.P1226Q|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.P1134Q	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1134	Ig-like 11.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGTGCTGCCACAGGCGGGC	0.587																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(3676-3678)cCa>cAa		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							73.0	81.0	78.0					1																	228432192		2055	4201	6256	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228432192C>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3401C>A	1.37:g.228432192C>A	ENSP00000409493:p.Pro1134Gln					OBSCN_ENST00000422127.1_Missense_Mutation_p.P1134Q|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.P1134Q|OBSCN_ENST00000366709.4_5'UTR	p.P1226Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			12	3751	+		Prostate(94;0.0405)	172			Ig-like 12.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3677C>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	0.026	-1.370001	0.01225	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.64618	-0.11;-0.11	3.44	-0.429	0.12303	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.559890	0.17711	N	0.164576	T	0.25901	0.0631	N	0.02391	-0.57	0.50171	D	0.999856	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.002	T	0.04178	-1.0971	10	0.13108	T	0.6	.	2.8084	0.05434	0.5105:0.2768:0.0798:0.1329	.	1134;1134	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Q	1134	ENSP00000284548:P1134Q;ENSP00000409493:P1134Q	ENSP00000284548:P1134Q	P	+	2	0	OBSCN	226498815	0.001000	0.12720	0.988000	0.46212	0.000000	0.00434	1.113000	0.31184	-0.295000	0.08960	-3.581000	0.00029	CCA		0.587	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		8	80	1	0	1.08611e-07	1	1.14514e-07	8	80				
MYO1H	283446	broad.mit.edu	37	12	109835562	109835562	+	Missense_Mutation	SNP	G	G	A	rs201793413		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr12:109835562G>A	ENST00000431443.2	+	4	467	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	MYO1H_ENST00000310903.5_Missense_Mutation_p.R156Q	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	156	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AGAACGCTCCGGAATGACAAC	0.408													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18864	0.0		0.0	False		,,,				2504	0.0					ENST00000310903.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(466-468)cGg>cAg		myosin IH		G	GLN/ARG	1,3797		0,1,1898	75.0	73.0	73.0		467	4.9	1.0	12		73	1,8331		0,1,4165	yes	missense	MYO1H	NM_001101421.3	43	0,2,6063	AA,AG,GG		0.012,0.0263,0.0165	probably-damaging	156/1023	109835562	2,12128	1899	4166	6065	SO:0001583	missense	283446					myosin complex	motor activity	g.chr12:109835562G>A		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.467G>A	12.37:g.109835562G>A	ENSP00000444076:p.Arg156Gln					MYO1H_ENST00000431443.2_Missense_Mutation_p.R156Q	p.R156Q			B4DNW6	B4DNW6_HUMAN			5	573	+			0					F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37	c.467G>A		.	.	.	.	.	.	.	.	.	.	G	27.9	4.875340	0.91664	2.63E-4	1.2E-4	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.88664	-2.41;-2.41	4.92	4.92	0.64577	.	.	.	.	.	D	0.93828	0.8026	H	0.96269	3.795	0.38284	D	0.9425	D	0.57899	0.981	P	0.46253	0.509	D	0.96914	0.9669	9	0.87932	D	0	.	17.5061	0.87746	0.0:0.0:1.0:0.0	.	156	F5H3C6	.	Q	156	ENSP00000439182:R156Q;ENSP00000444076:R156Q	ENSP00000439182:R156Q	R	+	2	0	MYO1H	108319945	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.497000	0.81536	2.445000	0.82738	0.650000	0.86243	CGG		0.408	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		3	40	0	0	0	1	0	3	40				
PDP2	57546	broad.mit.edu	37	16	66919576	66919576	+	Silent	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr16:66919576C>T	ENST00000311765.2	+	2	1723	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	PDP2_ENST00000568720.1_Intron|RP11-61A14.2_ENST00000561475.1_lincRNA	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	463					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CCAGCGGGCTCCACGAGGCTG	0.617																																						ENST00000311765.2																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12						c.(1387-1389)ctC>ctT		pyruvate dehyrogenase phosphatase catalytic subunit 2							32.0	32.0	32.0					16																	66919576		2200	4300	6500	SO:0001819	synonymous_variant	57546				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	g.chr16:66919576C>T	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.1389C>T	16.37:g.66919576C>T						PDP2_ENST00000568720.1_Intron	p.L463L	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)	2	1723	+		Ovarian(137;0.0563)	463					A8K924	Silent	SNP	ENST00000311765.2	37	c.1389C>T	CCDS10822.1																																																																																				0.617	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786		9	10	0	0	0	1	0	9	10				
ECM2	1842	broad.mit.edu	37	9	95277148	95277148	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:95277148C>A	ENST00000344604.5	-	4	968	c.819G>T	c.(817-819)gaG>gaT	p.E273D	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.E251D	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	273	Poly-Glu.				cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						cctcctcatcctcctcctcct	0.607																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(817-819)gaG>gaT		extracellular matrix protein 2, female organ and adipocyte specific							233.0	178.0	197.0					9																	95277148		2203	4300	6503	SO:0001583	missense	1842				cell-matrix adhesion		integrin binding	g.chr9:95277148C>A	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.819G>T	9.37:g.95277148C>A	ENSP00000344758:p.Glu273Asp					CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.E251D	p.E273D	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			4	968	-			273			Poly-Glu.		B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	c.819G>T	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150863	0.37923	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.51071	0.72;0.74	4.31	-1.15	0.09709	.	0.388711	0.26424	N	0.024459	T	0.25606	0.0623	L	0.31926	0.97	0.09310	N	1	B;B;B	0.11235	0.002;0.002;0.004	B;B;B	0.09377	0.002;0.002;0.004	T	0.06862	-1.0803	10	0.31617	T	0.26	.	0.4051	0.00432	0.2638:0.2764:0.1301:0.3297	.	273;251;251	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	D	251;273	ENSP00000393971:E251D;ENSP00000344758:E273D	ENSP00000344758:E273D	E	-	3	2	ECM2	94316969	0.000000	0.05858	0.002000	0.10522	0.433000	0.31745	-0.835000	0.04386	-0.326000	0.08564	0.650000	0.86243	GAG		0.607	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		4	118	1	0	0.00024832	1	0.000259	4	118				
CNTN3	5067	broad.mit.edu	37	3	74383984	74383984	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:74383984G>T	ENST00000263665.6	-	12	1597	c.1570C>A	c.(1570-1572)Caa>Aaa	p.Q524K		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	524	Ig-like C2-type 6.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGGTCATGTTGTACCTGGCAG	0.418																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(1570-1572)Caa>Aaa		contactin 3 (plasmacytoma associated)							124.0	116.0	119.0					3																	74383984		2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74383984G>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1570C>A	3.37:g.74383984G>T	ENSP00000263665:p.Gln524Lys						p.Q524K	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	12	1597	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	524			Ig-like C2-type 6.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.1570C>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.962319	0.34659	.	.	ENSG00000113805	ENST00000263665	T	0.65916	-0.18	5.25	4.36	0.52297	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.528270	0.20864	N	0.084291	T	0.35998	0.0951	N	0.05230	-0.09	0.09310	N	0.999999	B	0.02656	0.0	B	0.08055	0.003	T	0.16689	-1.0394	10	0.16896	T	0.51	.	8.5734	0.33583	0.076:0.0:0.7706:0.1534	.	524	Q9P232	CNTN3_HUMAN	K	524	ENSP00000263665:Q524K	ENSP00000263665:Q524K	Q	-	1	0	CNTN3	74466674	0.439000	0.25610	0.994000	0.49952	0.979000	0.70002	1.172000	0.31908	1.182000	0.42928	0.655000	0.94253	CAA		0.418	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		37	61	1	0	1.15183e-24	1	1.24142e-24	37	61				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			48	70	0	0	0	1	0	48	70				
ANKRD17	26057	broad.mit.edu	37	4	73942823	73942823	+	Splice_Site	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr4:73942823T>C	ENST00000358602.4	-	33	7704		c.e33-2		ANKRD17_ENST00000330838.6_Splice_Site|ANKRD17_ENST00000509867.2_Splice_Site	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17						blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGCATACCCTTAAAAAAGGA	0.388																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.e33-2		ankyrin repeat domain 17							49.0	46.0	47.0					4																	73942823		2202	4300	6502	SO:0001630	splice_region_variant	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73942823T>C	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7588-2A>G	4.37:g.73942823T>C						ANKRD17_ENST00000330838.6_Splice_Site|ANKRD17_ENST00000509867.2_Splice_Site		NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		33	7704	-	Breast(15;0.000295)							E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Splice_Site	SNP	ENST00000358602.4	37		CCDS34004.1	.	.	.	.	.	.	.	.	.	.	T	15.94	2.980260	0.53827	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867	.	.	.	4.76	4.76	0.60689	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2255	0.48882	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD17	74161687	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	6.698000	0.74608	2.081000	0.62600	0.383000	0.25322	.		0.388	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	Intron	5	29	0	0	0	1	0	5	29				
GTF2IRD2	84163	broad.mit.edu	37	7	74212378	74212378	+	Silent	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:74212378T>C	ENST00000405086.2	-	16	1662	c.1473A>G	c.(1471-1473)aaA>aaG	p.K491K	GTF2IRD2_ENST00000451013.2_Silent_p.K38K	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tcctgagcccttttttcagct	0.468																																					NSCLC(40;560 1096 7501 40315 49546)	ENST00000405086.2																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						c.(1471-1473)aaA>aaG		GTF2I repeat domain containing 2							141.0	117.0	125.0					7																	74212378		2203	4299	6502	SO:0001819	synonymous_variant	84163				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:74212378T>C	BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"""transcription factor GTF2IRD2"""	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.1473A>G	7.37:g.74212378T>C						GTF2IRD2_ENST00000451013.2_Silent_p.K38K	p.K491K	NM_173537.2	NP_775808.2	Q86UP8	GTD2A_HUMAN			16	1662	-			491					A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	Silent	SNP	ENST00000405086.2	37	c.1473A>G	CCDS5576.1																																																																																				0.468	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252712.3	NM_173537		3	106	0	0	0	1	0	3	106				
KMT2C	58508	broad.mit.edu	37	7	151970801	151970801	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:151970801G>T	ENST00000262189.6	-	7	1219	c.1001C>A	c.(1000-1002)gCt>gAt	p.A334D	KMT2C_ENST00000355193.2_Missense_Mutation_p.A334D	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	334					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCTTTCAGGAGCTTGGTCAAT	0.383																																						ENST00000355193.2																			0											c.(1000-1002)gCt>gAt		lysine (K)-specific methyltransferase 2C							236.0	219.0	225.0					7																	151970801		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151970801G>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1001C>A	7.37:g.151970801G>T	ENSP00000262189:p.Ala334Asp					KMT2C_ENST00000262189.6_Missense_Mutation_p.A334D	p.A334D							7	1219	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1001C>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813298	0.70912	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.85773	-2.02;-2.03	4.78	4.78	0.61160	Zinc finger, RING/FYVE/PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.43260	U	0.000588	D	0.91365	0.7276	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92390	0.5920	10	0.87932	D	0	.	18.1678	0.89734	0.0:0.0:1.0:0.0	.	334	Q8NEZ4	MLL3_HUMAN	D	334	ENSP00000262189:A334D;ENSP00000347325:A334D	ENSP00000262189:A334D	A	-	2	0	MLL3	151601734	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.781000	0.99029	2.375000	0.81037	0.585000	0.79938	GCT		0.383	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	357	1	0	0.00198382	1	0.00204713	5	357				
C11orf42	160298	broad.mit.edu	37	11	6231500	6231500	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:6231500G>C	ENST00000316375.2	+	2	543	c.493G>C	c.(493-495)Gtc>Ctc	p.V165L	FAM160A2_ENST00000529360.1_5'Flank	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	165										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCTACCAGGTCTTCTCTTG	0.587																																						ENST00000316375.2																			0				endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15						c.(493-495)Gtc>Ctc		chromosome 11 open reading frame 42							104.0	106.0	105.0					11																	6231500		2201	4296	6497	SO:0001583	missense	160298							g.chr11:6231500G>C	BC031612	CCDS7759.1	11p15.4	2012-08-09			ENSG00000180878	ENSG00000180878			28541	protein-coding gene	gene with protein product						12477932	Standard	NM_173525		Approved	MGC34805	uc001mcj.3	Q8N5U0	OTTHUMG00000133377	ENST00000316375.2:c.493G>C	11.37:g.6231500G>C	ENSP00000321021:p.Val165Leu						p.V165L	NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	543	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	165						Missense_Mutation	SNP	ENST00000316375.2	37	c.493G>C	CCDS7759.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.830524	0.32329	.	.	ENSG00000180878	ENST00000316375	T	0.55234	0.53	5.35	4.44	0.53790	.	0.000000	0.50627	D	0.000104	T	0.37237	0.0996	N	0.24115	0.695	0.30555	N	0.765105	P	0.35348	0.496	B	0.34242	0.178	T	0.47573	-0.9107	10	0.66056	D	0.02	-11.1753	9.9372	0.41559	0.0918:0.0:0.9082:0.0	.	165	Q8N5U0	CK042_HUMAN	L	165	ENSP00000321021:V165L	ENSP00000321021:V165L	V	+	1	0	C11orf42	6188076	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.416000	0.44644	1.491000	0.48482	0.585000	0.79938	GTC		0.587	C11orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257227.2	NM_173525		11	156	0	0	0	1	0	11	156				
CDKL5	6792	broad.mit.edu	37	X	18646678	18646678	+	Missense_Mutation	SNP	C	C	A	rs587783157		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chrX:18646678C>A	ENST00000379989.3	+	19	2969	c.2684C>A	c.(2683-2685)cCg>cAg	p.P895Q	CDKL5_ENST00000379996.3_Missense_Mutation_p.P895Q	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	895					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GAACCCGCACCGAAGGGCAGG	0.577																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(2683-2685)cCg>cAg		cyclin-dependent kinase-like 5							52.0	52.0	52.0					X																	18646678		2203	4300	6503	SO:0001583	missense	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18646678C>A	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2684C>A	X.37:g.18646678C>A	ENSP00000369325:p.Pro895Gln					CDKL5_ENST00000379996.3_Missense_Mutation_p.P895Q	p.P895Q	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			19	2969	+	Hepatocellular(33;0.183)		895					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	c.2684C>A	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304676	0.23736	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.72167	-0.63;-0.63	5.8	5.8	0.92144	.	0.108538	0.64402	D	0.000006	T	0.75693	0.3884	L	0.32530	0.975	0.46586	D	0.99911	D	0.61080	0.989	P	0.58013	0.831	T	0.78342	-0.2241	10	0.87932	D	0	-7.7295	18.9959	0.92812	0.0:1.0:0.0:0.0	.	895	O76039	CDKL5_HUMAN	Q	895	ENSP00000369332:P895Q;ENSP00000369325:P895Q	ENSP00000369325:P895Q	P	+	2	0	CDKL5	18556599	0.725000	0.28048	0.887000	0.34795	0.126000	0.20510	5.353000	0.66034	2.434000	0.82447	0.600000	0.82982	CCG		0.577	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		3	64	1	0	1	1	1	3	64				
DEFB119	245932	broad.mit.edu	37	20	29976970	29976970	+	Intron	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:29976970C>T	ENST00000376321.3	-	1	181				DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000376315.2_Missense_Mutation_p.R42H	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119						defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ATTTCGGCAGCGTATGATGCT	0.453																																						ENST00000376315.2																			0				large_intestine(2)|lung(1)|prostate(1)	4						c.(124-126)cGc>cAc		defensin, beta 119							214.0	182.0	193.0					20																	29976970		2203	4300	6503	SO:0001627	intron_variant	245932				defense response to bacterium	extracellular region		g.chr20:29976970C>T	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"""Defensins, beta"""	18099	protein-coding gene	gene with protein product			"""defensin, beta 120"""	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.61+1255G>A	20.37:g.29976970C>T						DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000339144.3_Intron	p.R42H	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	124	-	all_hematologic(12;0.158)		48					Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	ENST00000376321.3	37	c.125G>A	CCDS13178.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208032	0.95033	.	.	ENSG00000180483	ENST00000376315	T	0.11385	2.78	3.71	3.71	0.42584	.	1.313780	0.05190	N	0.502908	T	0.32071	0.0817	.	.	.	0.25537	N	0.987212	D	0.89917	1.0	D	0.71870	0.975	T	0.17107	-1.0380	9	0.87932	D	0	-17.3563	11.2726	0.49148	0.0:1.0:0.0:0.0	.	42	Q8N690-2	.	H	42	ENSP00000365492:R42H	ENSP00000365492:R42H	R	-	2	0	DEFB119	29440631	0.394000	0.25246	0.799000	0.32177	0.909000	0.53808	0.854000	0.27791	2.377000	0.81083	0.563000	0.77884	CGC		0.453	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	NM_153289		13	177	0	0	0	1	0	13	177				
MINK1	50488	broad.mit.edu	37	17	4797498	4797498	+	Silent	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr17:4797498T>C	ENST00000355280.6	+	23	2896	c.2700T>C	c.(2698-2700)caT>caC	p.H900H	MINK1_ENST00000347992.7_Silent_p.H871H|MINK1_ENST00000453408.3_Silent_p.H880H	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACCTGCTGCATGCTGACAGCA	0.622																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(2698-2700)caT>caC		misshapen-like kinase 1							91.0	101.0	98.0					17																	4797498		2167	4262	6429	SO:0001819	synonymous_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4797498T>C	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"""misshapen/NIK-related kinase"""	609426	"""misshapen-like kinase 1 (zebrafish)"""			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.2700T>C	17.37:g.4797498T>C						MINK1_ENST00000347992.7_Silent_p.H871H|MINK1_ENST00000453408.3_Silent_p.H880H	p.H900H	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			23	2896	+			900			Mediates interaction with RAP2A.			Silent	SNP	ENST00000355280.6	37	c.2700T>C	CCDS45588.1																																																																																				0.622	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716		40	99	0	0	0	1	0	40	99				
CSTF1	1477	broad.mit.edu	37	20	54974333	54974333	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:54974333A>G	ENST00000217109.4	+	5	1308	c.956A>G	c.(955-957)aAa>aGa	p.K319R	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	319					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			AAAAATTCTAAATACATTCTC	0.388																																						ENST00000217109.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15						c.(955-957)aAa>aGa		cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa							104.0	101.0	102.0					20																	54974333		2203	4300	6503	SO:0001583	missense	1477				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr20:54974333A>G		CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"""WD repeat domain containing"""	2483	protein-coding gene	gene with protein product		600369	"""cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"""			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.956A>G	20.37:g.54974333A>G	ENSP00000217109:p.Lys319Arg					CSTF1_ENST00000493039.1_3'UTR	p.K319R	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	Colorectal(105;0.202)		5	1308	+			319					Q5QPD8	Missense_Mutation	SNP	ENST00000217109.4	37	c.956A>G	CCDS13452.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.122632	0.77436	.	.	ENSG00000101138	ENST00000415828;ENST00000217109;ENST00000425890;ENST00000452950	T;T;T	0.81247	-1.47;-1.47;-1.47	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78007	0.4216	L	0.56769	1.78	0.80722	D	1	B	0.29716	0.255	B	0.27796	0.083	T	0.74976	-0.3480	10	0.34782	T	0.22	-12.3028	16.3943	0.83563	1.0:0.0:0.0:0.0	.	319	Q05048	CSTF1_HUMAN	R	319;319;306;319	ENSP00000387968:K319R;ENSP00000217109:K319R;ENSP00000409035:K319R	ENSP00000217109:K319R	K	+	2	0	CSTF1	54407740	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	9.143000	0.94623	2.281000	0.76405	0.533000	0.62120	AAA		0.388	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	NM_001033521		6	84	0	0	0	1	0	6	84				
UEVLD	55293	broad.mit.edu	37	11	18568522	18568522	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:18568522T>A	ENST00000396197.3	-	8	819	c.791A>T	c.(790-792)gAt>gTt	p.D264V	UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000379387.4_Missense_Mutation_p.D242V|UEVLD_ENST00000535484.1_Missense_Mutation_p.D226V|UEVLD_ENST00000543987.1_Missense_Mutation_p.D264V|UEVLD_ENST00000320750.6_Missense_Mutation_p.D242V	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CTGTACCACATCAAGGTACGA	0.458																																						ENST00000396197.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(790-792)gAt>gTt		UEV and lactate/malate dehyrogenase domains							150.0	135.0	140.0					11																	18568522		2199	4293	6492	SO:0001583	missense	55293				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	g.chr11:18568522T>A	AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000396197.3:c.791A>T	11.37:g.18568522T>A	ENSP00000379500:p.Asp264Val					UEVLD_ENST00000379387.4_Missense_Mutation_p.D242V|UEVLD_ENST00000320750.6_Missense_Mutation_p.D242V|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000535484.1_Missense_Mutation_p.D226V|UEVLD_ENST00000543987.1_Missense_Mutation_p.D264V	p.D264V	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN			8	819	-			264						Missense_Mutation	SNP	ENST00000396197.3	37	c.791A>T	CCDS41624.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.281171	0.59758	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000540110	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	5.75	5.75	0.90469	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.145437	0.64402	D	0.000006	D	0.94453	0.8215	M	0.84585	2.705	0.80722	D	1	P;B;B;P	0.37781	0.608;0.442;0.027;0.608	P;B;B;P	0.48795	0.59;0.132;0.031;0.59	D	0.94700	0.7882	10	0.87932	D	0	-9.6078	10.4059	0.44256	0.0:0.0723:0.0:0.9277	.	242;242;264;264	B4DL43;Q8IX04-3;Q8IX04-2;Q8IX04	.;.;.;UEVLD_HUMAN	V	264;226;264;242;242;41	ENSP00000442974:D264V;ENSP00000441092:D226V;ENSP00000379500:D264V;ENSP00000323353:D242V;ENSP00000368697:D242V	ENSP00000323353:D242V	D	-	2	0	UEVLD	18525098	1.000000	0.71417	0.898000	0.35279	0.935000	0.57460	2.604000	0.46274	2.201000	0.70794	0.533000	0.62120	GAT		0.458	UEVLD-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395923.2	NM_018314		10	99	0	0	0	1	0	10	99				
PKD1L2	114780	broad.mit.edu	37	16	81161555	81161555	+	RNA	SNP	G	G	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr16:81161555G>T	ENST00000534142.1	-	0	548				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TATGGTGCACGGCATCCGTTG	0.567																																						ENST00000533478.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2							60.0	58.0	59.0					16																	81161555		2011	4183	6194			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81161555G>T	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81161555G>T						PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA		NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN			0	4215	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	ENST00000534142.1	37																																																																																						0.567	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1			3	44	1	0	0.00909568	1	0.00928717	3	44				
ZBTB18	10472	broad.mit.edu	37	1	244218515	244218515	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:244218515G>A	ENST00000358704.4	+	2	1588	c.1439G>A	c.(1438-1440)tGc>tAc	p.C480Y		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	471					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGCAAGTGGTGCGAGCGCAGG	0.597																																						ENST00000358704.4																			0											c.(1438-1440)tGc>tAc		zinc finger and BTB domain containing 18							63.0	62.0	62.0					1																	244218515		2203	4300	6503	SO:0001583	missense	10472							g.chr1:244218515G>A	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1439G>A	1.37:g.244218515G>A	ENSP00000351539:p.Cys480Tyr						p.C480Y	NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1					2	1588	+								A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	ENST00000358704.4	37	c.1439G>A	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429873	0.62844	.	.	ENSG00000179456	ENST00000358704	D	0.85861	-2.04	5.78	5.78	0.91487	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94155	0.8125	M	0.90252	3.1	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.81914	0.995;0.991	D	0.94582	0.7780	10	0.87932	D	0	.	20.0124	0.97464	0.0:0.0:1.0:0.0	.	471;480	Q99592;Q99592-2	ZN238_HUMAN;.	Y	480	ENSP00000351539:C480Y	ENSP00000351539:C480Y	C	+	2	0	ZNF238	242285138	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.869000	0.99810	2.749000	0.94314	0.655000	0.94253	TGC		0.597	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		28	50	0	0	0	1	0	28	50				
TRIO	7204	broad.mit.edu	37	5	14498282	14498282	+	Missense_Mutation	SNP	G	G	A	rs375871711		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr5:14498282G>A	ENST00000344204.4	+	52	8156	c.8132G>A	c.(8131-8133)cGc>cAc	p.R2711H	TRIO_ENST00000344135.5_Missense_Mutation_p.R210H|TRIO_ENST00000537187.1_Missense_Mutation_p.R2535H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2711	Ig-like C2-type.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTCTGTGGCCGCCCCAAAGCC	0.542																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(8131-8133)cGc>cAc		trio Rho guanine nucleotide exchange factor		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	137.0	121.0	127.0		8132	5.2	1.0	5		127	0,8600		0,0,4300	no	missense	TRIO	NM_007118.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	2711/3098	14498282	1,13005	2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14498282G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.8132G>A	5.37:g.14498282G>A	ENSP00000339299:p.Arg2711His					TRIO_ENST00000537187.1_Missense_Mutation_p.R2535H|TRIO_ENST00000344135.5_Missense_Mutation_p.R210H	p.R2711H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			52	8156	+	Lung NSC(4;0.000742)		2711			Ig-like C2-type.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.8132G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884370	0.91814	2.27E-4	0.0	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206;ENST00000344135	T;T;T	0.67345	-0.26;-0.26;-0.26	5.16	5.16	0.70880	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	N	0.12637	0.245	0.31193	N	0.700727	D	0.89917	1.0	D	0.91635	0.999	T	0.72554	-0.4258	10	0.46703	T	0.11	.	19.0249	0.92929	0.0:0.0:1.0:0.0	.	2711	O75962	TRIO_HUMAN	H	2711;2535;2398;210	ENSP00000339299:R2711H;ENSP00000446348:R2535H;ENSP00000339291:R210H	ENSP00000339291:R210H	R	+	2	0	TRIO	14551282	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.710000	0.74670	2.573000	0.86826	0.655000	0.94253	CGC		0.542	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		3	74	0	0	0	1	0	3	74				
SSPO	23145	broad.mit.edu	37	7	149493511	149493511	+	RNA	SNP	G	G	A	rs569350279		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:149493511G>A	ENST00000378016.2	+	0	6587							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTTTCGGCCGCATGGTGCAG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19119	0.0		0.0	False		,,,				2504	0.0					ENST00000378016.2																			0													SCO-spondin							98.0	113.0	108.0					7																	149493511		2143	4242	6385			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149493511G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149493511G>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	6587	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.607	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	174	0	0	0	1	0	4	174				
CLEC14A	161198	broad.mit.edu	37	14	38724727	38724727	+	Silent	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr14:38724727G>A	ENST00000342213.2	-	1	847	c.501C>T	c.(499-501)aaC>aaT	p.N167N		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	167	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.N167N(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		ACAGGTAGCCGTTGGCGCGCA	0.682																																						ENST00000342213.2																			1	Substitution - coding silent(1)	p.N167N(1)	endometrium(1)	breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(499-501)aaC>aaT		C-type lectin domain family 14, member A							44.0	39.0	41.0					14																	38724727		2199	4290	6489	SO:0001819	synonymous_variant	161198					integral to membrane	sugar binding	g.chr14:38724727G>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.501C>T	14.37:g.38724727G>A							p.N167N	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	847	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		167			C-type lectin.		Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	37	c.501C>T	CCDS9667.1																																																																																				0.682	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		4	74	0	0	0	1	0	4	74				
AHI1	54806	broad.mit.edu	37	6	135787392	135787392	+	Silent	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:135787392G>A	ENST00000367800.4	-	5	525	c.309C>T	c.(307-309)aaC>aaT	p.N103N	AHI1_ENST00000457866.2_Silent_p.N103N|AHI1_ENST00000327035.6_Silent_p.N103N	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	103					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTAACTGTGTGTTCCTCAATT	0.393																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(307-309)aaC>aaT		Abelson helper integration site 1							245.0	225.0	231.0					6																	135787392		1900	4126	6026	SO:0001819	synonymous_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135787392G>A	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.309C>T	6.37:g.135787392G>A						AHI1_ENST00000327035.6_Silent_p.N103N|AHI1_ENST00000457866.2_Silent_p.N103N	p.N103N	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	5	525	-	Breast(56;0.239)|Colorectal(23;0.24)		103					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Silent	SNP	ENST00000367800.4	37	c.309C>T	CCDS47483.1																																																																																				0.393	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		85	95	0	0	0	1	0	85	95				
ANKRD30A	91074	broad.mit.edu	37	10	37430688	37430688	+	Missense_Mutation	SNP	C	C	T	rs529585679		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:37430688C>T	ENST00000602533.1	+	7	794	c.695C>T	c.(694-696)gCg>gTg	p.A232V	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A232V|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A232V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	288					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A232V(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCACCCTTGGCGGAAAGAACA	0.483																																						ENST00000374660.1																			1	Substitution - Missense(1)	p.A232V(1)	large_intestine(1)	NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(694-696)gCg>gTg		ankyrin repeat domain 30A							34.0	35.0	35.0					10																	37430688		1876	4105	5981	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430688C>T	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.695C>T	10.37:g.37430688C>T	ENSP00000473551:p.Ala232Val					ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A232V|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A232V	p.A232V			Q9BXX3	AN30A_HUMAN			7	794	+			288					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.695C>T		.	.	.	.	.	.	.	.	.	.	.	5.177	0.218204	0.09810	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06294	3.32;3.32	0.566	-1.13	0.09775	.	.	.	.	.	T	0.04497	0.0123	L	0.43152	1.355	0.09310	N	1	P	0.42993	0.797	B	0.37692	0.256	T	0.33599	-0.9862	8	0.23302	T	0.38	.	.	.	.	.	288	Q9BXX3	AN30A_HUMAN	V	232	ENSP00000354432:A232V;ENSP00000363792:A232V	ENSP00000354432:A232V	A	+	2	0	ANKRD30A	37470694	0.749000	0.28305	0.037000	0.18230	0.177000	0.22998	-1.289000	0.02780	-1.015000	0.03375	-0.749000	0.03505	GCG		0.483	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		5	68	0	0	0	1	0	5	68				
PAPPA	5069	broad.mit.edu	37	9	118949845	118949845	+	Silent	SNP	C	C	T	rs115729347	byFrequency	TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:118949845C>T	ENST00000328252.3	+	2	1197	c.828C>T	c.(826-828)ggC>ggT	p.G276G	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	276	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AAACCCATGGCGCCCACACTG	0.572													C|||	15	0.00299521	0.0113	0.0	5008	,	,		19146	0.0		0.0	False		,,,				2504	0.0					ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(826-828)ggC>ggT		pregnancy-associated plasma protein A, pappalysin 1		C		19,4387	27.2+/-55.0	0,19,2184	109.0	101.0	104.0		828	1.7	0.9	9	dbSNP_132	104	0,8600		0,0,4300	no	coding-synonymous	PAPPA	NM_002581.3		0,19,6484	TT,TC,CC		0.0,0.4312,0.1461		276/1628	118949845	19,12987	2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118949845C>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.828C>T	9.37:g.118949845C>T							p.G276G	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			2	1197	+			276			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.828C>T	CCDS6813.1																																																																																				0.572	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		4	144	0	0	0	1	0	4	144				
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413																																						ENST00000300619.7																			0											c.(913-915)cAt>cGt		zinc finger protein 91							78.0	82.0	81.0					19																	23544867		2175	4288	6463	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544867T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.914A>G	19.37:g.23544867T>C	ENSP00000300619:p.His305Arg					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R	p.H305R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1119	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	305					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.914A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.588219	0.00872	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17691	2.26;2.26	2.03	0.954	0.19595	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05640	0.0148	N	0.04043	-0.29	0.09310	N	1	B;B	0.26081	0.116;0.141	B;B	0.15484	0.007;0.013	T	0.41251	-0.9519	9	0.07030	T	0.85	.	6.7777	0.23628	0.0:0.1365:0.0:0.8635	.	273;305	Q05481-2;Q05481	.;ZNF91_HUMAN	R	305;273	ENSP00000300619:H305R;ENSP00000380272:H273R	ENSP00000300619:H305R	H	-	2	0	ZNF91	23336707	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.802000	0.00184	-0.005000	0.14395	-1.601000	0.00813	CAT		0.413	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		4	112	0	0	0	1	0	4	112				
EFCAB12	90288	broad.mit.edu	37	3	129120596	129120596	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:129120596G>A	ENST00000505956.1	-	9	1721	c.1559C>T	c.(1558-1560)aCt>aTt	p.T520I	RPL32P3_ENST00000514355.1_RNA|EFCAB12_ENST00000326085.3_Missense_Mutation_p.T520I	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	520							calcium ion binding (GO:0005509)										TGTGGCCACAGTGGGCAGGTA	0.587																																						ENST00000505956.1																			0											c.(1558-1560)aCt>aTt		EF-hand calcium binding domain 12							104.0	112.0	109.0					3																	129120596		2090	4212	6302	SO:0001583	missense	90288							g.chr3:129120596G>A	AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.1559C>T	3.37:g.129120596G>A	ENSP00000420854:p.Thr520Ile					EFCAB12_ENST00000326085.3_Missense_Mutation_p.T520I	p.T520I	NM_207307.1	NP_997190.1					9	1721	-								Q69YX4	Missense_Mutation	SNP	ENST00000505956.1	37	c.1559C>T	CCDS54638.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.538060	0.65085	.	.	ENSG00000172771	ENST00000505956;ENST00000326085	T;T	0.15603	2.41;2.41	5.6	4.64	0.57946	.	0.678547	0.13428	N	0.388639	T	0.28599	0.0708	L	0.32530	0.975	0.19575	N	0.999965	D	0.71674	0.998	D	0.69142	0.962	T	0.07849	-1.0751	10	0.33141	T	0.24	-14.9219	12.6034	0.56509	0.0:0.0:0.7856:0.2144	.	520	Q6NXP0	CC025_HUMAN	I	520	ENSP00000420854:T520I;ENSP00000324241:T520I	ENSP00000324241:T520I	T	-	2	0	C3orf25	130603286	0.062000	0.20869	0.963000	0.40424	0.947000	0.59692	2.091000	0.41691	2.636000	0.89361	0.655000	0.94253	ACT		0.587	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307		5	7	0	0	0	1	0	5	7				
RREB1	6239	broad.mit.edu	37	6	7211105	7211105	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:7211105G>A	ENST00000349384.6	+	7	808	c.494G>A	c.(493-495)cGt>cAt	p.R165H	RREB1_ENST00000334984.6_Missense_Mutation_p.R165H|RREB1_ENST00000379938.2_Missense_Mutation_p.R165H|RREB1_ENST00000379933.3_Missense_Mutation_p.R165H	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	165					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCTCTGAAACGTAGGCGATTG	0.502																																						ENST00000379938.2																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(493-495)cGt>cAt		ras responsive element binding protein 1							136.0	128.0	131.0					6																	7211105		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7211105G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.494G>A	6.37:g.7211105G>A	ENSP00000305560:p.Arg165His					RREB1_ENST00000334984.6_Missense_Mutation_p.R165H|RREB1_ENST00000379933.3_Missense_Mutation_p.R165H|RREB1_ENST00000349384.6_Missense_Mutation_p.R165H	p.R165H	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN			7	1031	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	165					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.494G>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245365	0.80024	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.12672	2.79;2.75;2.79;2.66;2.79	5.29	5.29	0.74685	.	0.000000	0.56097	D	0.000032	T	0.25827	0.0629	M	0.66939	2.045	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.975;0.97;0.996	T	0.01424	-1.1358	10	0.23302	T	0.38	-48.4868	17.7287	0.88371	0.0:0.0:1.0:0.0	.	165;165;165	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	H	165	ENSP00000369265:R165H;ENSP00000369270:R165H;ENSP00000305560:R165H;ENSP00000335574:R165H;ENSP00000419511:R165H	ENSP00000335574:R165H	R	+	2	0	RREB1	7156104	1.000000	0.71417	1.000000	0.80357	0.259000	0.26198	7.145000	0.77365	2.484000	0.83849	0.585000	0.79938	CGT		0.502	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			5	190	0	0	0	1	0	5	190				
PKD1L1	168507	broad.mit.edu	37	7	47933628	47933628	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:47933628C>G	ENST00000289672.2	-	15	2350	c.2300G>C	c.(2299-2301)aGc>aCc	p.S767T		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	767	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGTAGTTGCTGTACACCAC	0.572																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(2299-2301)aGc>aCc		polycystic kidney disease 1 like 1							90.0	68.0	75.0					7																	47933628		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47933628C>G	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.2300G>C	7.37:g.47933628C>G	ENSP00000289672:p.Ser767Thr						p.S767T	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			15	2350	-			767			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.2300G>C	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	c	16.77	3.215128	0.58452	.	.	ENSG00000158683	ENST00000289672	T	0.68765	-0.35	5.23	4.35	0.52113	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.104209	0.42682	D	0.000675	T	0.78604	0.4309	M	0.63843	1.955	0.25474	N	0.987794	D	0.89917	1.0	D	0.91635	0.999	T	0.71407	-0.4602	10	0.54805	T	0.06	-11.3743	13.6843	0.62506	0.0:0.8439:0.1561:0.0	.	767	Q8TDX9	PK1L1_HUMAN	T	767	ENSP00000289672:S767T	ENSP00000289672:S767T	S	-	2	0	PKD1L1	47900153	1.000000	0.71417	0.179000	0.23059	0.558000	0.35554	3.411000	0.52672	1.197000	0.43143	0.543000	0.68304	AGC		0.572	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		33	68	0	0	0	1	0	33	68				
CUX2	23316	broad.mit.edu	37	12	111729277	111729277	+	Silent	SNP	C	C	T	rs372694667		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr12:111729277C>T	ENST00000261726.6	+	5	511	c.357C>T	c.(355-357)ccC>ccT	p.P119P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	119					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGCAGCCCCCCAGCTTTGACC	0.617																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(355-357)ccC>ccT		cut-like homeobox 2							50.0	56.0	54.0					12																	111729277		1958	4145	6103	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111729277C>T	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.357C>T	12.37:g.111729277C>T							p.P119P	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			5	511	+			119					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.357C>T	CCDS41837.1																																																																																				0.617	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		8	108	0	0	0	1	0	8	108				
PHC3	80012	broad.mit.edu	37	3	169835095	169835095	+	Silent	SNP	A	A	G			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:169835095A>G	ENST00000494943.1	-	10	2144	c.2076T>C	c.(2074-2076)ccT>ccC	p.P692P	PHC3_ENST00000495893.2_Silent_p.P704P|PHC3_ENST00000467570.1_Silent_p.P651P			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	692					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TAGCCTGTGGAGGTTTGTTCT	0.433																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(2074-2076)ccT>ccC		polyhomeotic homolog 3 (Drosophila)							193.0	180.0	184.0					3																	169835095		1919	4137	6056	SO:0001819	synonymous_variant	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169835095A>G		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.2076T>C	3.37:g.169835095A>G						PHC3_ENST00000495893.1_Silent_p.P704P|PHC3_ENST00000467570.1_Silent_p.P651P	p.P692P			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		10	2144	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		692					A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Silent	SNP	ENST00000494943.1	37	c.2076T>C		.	.	.	.	.	.	.	.	.	.	A	0.319	-0.962999	0.02249	.	.	ENSG00000173889	ENST00000486042	.	.	.	5.45	1.7	0.24286	.	.	.	.	.	T	0.45498	0.1345	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26189	-1.0110	4	.	.	.	-17.8281	3.2083	0.06674	0.5345:0.2641:0.071:0.1305	.	.	.	.	P	166	.	.	S	-	1	0	PHC3	171317789	0.990000	0.36364	1.000000	0.80357	0.022000	0.10575	0.404000	0.20999	0.345000	0.23873	-0.452000	0.05504	TCC		0.433	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		6	65	0	0	0	1	0	6	65				
MIR7162	102466227	broad.mit.edu	37	15	62539227	62539227	+	RNA	SNP	C	C	T	rs185744405	byFrequency	TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr15:62539227C>T	ENST00000570077.1	-	0	362																											AGCTTACCCACCTGGTTCCTT	0.577													.|||	6	0.00119808	0.003	0.0	5008	,	,		18657	0.001		0.0	False		,,,				2504	0.001					ENST00000570077.1																			0																																																			0							g.chr15:62539227C>T																													15.37:g.62539227C>T														0	362	-									RNA	SNP	ENST00000570077.1	37			2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	T	3.428	-0.116756	0.06838	.	.	ENSG00000166104	ENST00000429274	.	.	.	1.85	0.681	0.17986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.465	0.11685	0.0:0.363:0.0:0.637	.	.	.	.	.	-1	.	.	.	-	.	.	AC126323.1	60326519	0.000000	0.05858	0.053000	0.19242	0.015000	0.08874	-0.885000	0.04161	-0.189000	0.10482	-2.160000	0.00327	.		0.577	hsa-mir-7162.1-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000422143.1			7	48	0	0	0	1	0	7	48				
MIR7162	102466227	broad.mit.edu	37	15	62539305	62539305	+	RNA	SNP	T	T	C	rs199931750		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr15:62539305T>C	ENST00000570077.1	-	0	284																											TCCCTCAACGTGTGCACCTGC	0.607																																						ENST00000570077.1																			0																																																			0							g.chr15:62539305T>C																													15.37:g.62539305T>C														0	284	-									RNA	SNP	ENST00000570077.1	37			.	.	.	.	.	.	.	.	.	.	T	4.083	0.013417	0.07912	.	.	ENSG00000166104	ENST00000429274	.	.	.	1.85	-0.922	0.10468	.	.	.	.	.	T	0.29652	0.0740	.	.	.	.	.	.	B	0.28584	0.216	B	0.32928	0.155	T	0.32981	-0.9886	6	0.49607	T	0.09	.	4.5498	0.12107	0.0:0.3714:0.0:0.6286	.	123	Q8N8X6-2	.	A	123	.	ENSP00000396161:T123A	T	-	1	0	AC126323.1	60326597	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.189000	0.17037	-0.233000	0.09797	0.241000	0.17934	ACG		0.607	hsa-mir-7162.1-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000422143.1			4	31	0	0	0	1	0	4	31				
CROT	54677	broad.mit.edu	37	7	86990776	86990776	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:86990776C>T	ENST00000331536.3	+	5	496	c.311C>T	c.(310-312)gCg>gTg	p.A104V	CROT_ENST00000419147.2_Missense_Mutation_p.A132V|CROT_ENST00000442291.1_Missense_Mutation_p.A104V	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	104					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GTCAACTTTGCGGGTCCTGCA	0.423																																						ENST00000331536.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(310-312)gCg>gTg		carnitine O-octanoyltransferase	L-Carnitine(DB00583)						128.0	116.0	120.0					7																	86990776		2203	4300	6503	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:86990776C>T		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.311C>T	7.37:g.86990776C>T	ENSP00000331981:p.Ala104Val					CROT_ENST00000419147.2_Missense_Mutation_p.A132V|CROT_ENST00000442291.1_Missense_Mutation_p.A104V	p.A104V	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN			5	496	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		104					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.311C>T	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121098	0.37436	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.89415	-2.51;-2.51;-2.51	5.86	-0.991	0.10235	.	0.321963	0.37136	N	0.002225	T	0.76709	0.4025	N	0.21373	0.66	0.20403	N	0.9999	B;B	0.18968	0.018;0.032	B;B	0.16722	0.016;0.01	T	0.59994	-0.7349	10	0.15499	T	0.54	-0.0951	9.7906	0.40704	0.0:0.3379:0.455:0.2071	.	132;104	E7EQF2;Q9UKG9	.;OCTC_HUMAN	V	132;104;104	ENSP00000413575:A132V;ENSP00000331981:A104V;ENSP00000411983:A104V	ENSP00000331981:A104V	A	+	2	0	CROT	86828712	0.359000	0.24955	0.102000	0.21198	0.997000	0.91878	0.680000	0.25306	-0.109000	0.12044	0.655000	0.94253	GCG		0.423	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		4	145	0	0	0	1	0	4	145				
VAX1	11023	broad.mit.edu	37	10	118896039	118896039	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:118896039C>T	ENST00000369206.5	-	2	372	c.373G>A	c.(373-375)Gtg>Atg	p.V125M	VAX1_ENST00000277905.2_Missense_Mutation_p.V125M	NM_001112704.1	NP_001106175.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	125					axon guidance (GO:0007411)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|palate development (GO:0060021)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CGGCCCACCACGTACTGGCAG	0.667																																						ENST00000277905.2																			0				endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12						c.(373-375)Gtg>Atg		ventral anterior homeobox 1							38.0	38.0	38.0					10																	118896039		2203	4300	6503	SO:0001583	missense	11023					nucleus	sequence-specific DNA binding	g.chr10:118896039C>T	AK127095	CCDS7597.1, CCDS44483.1	10q26.11	2011-06-20			ENSG00000148704	ENSG00000148704		"""Homeoboxes / ANTP class : NKL subclass"""	12660	protein-coding gene	gene with protein product		604294				9636075, 10485894	Standard	NM_199131		Approved		uc009xyx.3	Q5SQQ9	OTTHUMG00000019117	ENST00000369206.5:c.373G>A	10.37:g.118896039C>T	ENSP00000358207:p.Val125Met					VAX1_ENST00000369206.5_Missense_Mutation_p.V125M	p.V125M	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN		all cancers(201;0.0108)	2	617	-			125					B1AVW5|Q6ZSX0	Missense_Mutation	SNP	ENST00000369206.5	37	c.373G>A	CCDS44483.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478466	0.63849	.	.	ENSG00000148704	ENST00000277905;ENST00000369206	D;D	0.96265	-3.96;-3.96	3.88	3.88	0.44766	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.96182	0.8755	L	0.31526	0.94	0.53688	D	0.999978	D;D	0.89917	0.999;1.0	D;D	0.71870	0.954;0.975	D	0.95912	0.8924	10	0.40728	T	0.16	-7.2586	16.0214	0.80499	0.0:1.0:0.0:0.0	.	125;125	Q5SQQ9;Q5SQQ9-2	VAX1_HUMAN;.	M	125	ENSP00000277905:V125M;ENSP00000358207:V125M	ENSP00000277905:V125M	V	-	1	0	VAX1	118886029	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.571000	0.67404	1.996000	0.58369	0.455000	0.32223	GTG		0.667	VAX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050559.3	XM_301242		16	41	0	0	0	1	0	16	41				
NEO1	4756	broad.mit.edu	37	15	73541990	73541990	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr15:73541990C>T	ENST00000339362.5	+	12	2269	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	NEO1_ENST00000261908.6_Nonsense_Mutation_p.R608*|NEO1_ENST00000560262.1_Nonsense_Mutation_p.R608*|NEO1_ENST00000558964.1_Nonsense_Mutation_p.R608*			Q92859	NEO1_HUMAN	neogenin 1	608	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GTATAGTTTCCGAGTGGTGGC	0.378																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(1822-1824)Cga>Tga		neogenin 1							148.0	138.0	141.0					15																	73541990		2198	4297	6495	SO:0001587	stop_gained	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73541990C>T	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.1822C>T	15.37:g.73541990C>T	ENSP00000341198:p.Arg608*					NEO1_ENST00000558964.1_Nonsense_Mutation_p.R608*|NEO1_ENST00000261908.6_Nonsense_Mutation_p.R608*|NEO1_ENST00000560262.1_Nonsense_Mutation_p.R608*	p.R608*			Q92859	NEO1_HUMAN			12	2269	+			608			Fibronectin type-III 2.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Nonsense_Mutation	SNP	ENST00000339362.5	37	c.1822C>T	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	C	38	7.057674	0.98032	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.207	14.4834	0.67599	0.147:0.853:0.0:0.0	.	.	.	.	X	608;346;608	.	ENSP00000261908:R608X	R	+	1	2	NEO1	71329043	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.506000	0.60428	2.722000	0.93159	0.655000	0.94253	CGA		0.378	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		4	117	0	0	0	1	0	4	117				
LPHN1	22859	broad.mit.edu	37	19	14271032	14271032	+	Silent	SNP	G	G	A	rs150872915		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr19:14271032G>A	ENST00000340736.6	-	9	2004	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000591528.1_5'Flank|LPHN1_ENST00000361434.3_Silent_p.D564D|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	569					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGAGGAGACGTCCCCCGCGT	0.662																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1705-1707)gaC>gaT		latrophilin 1		G	,	1,4405	2.1+/-5.4	0,1,2202	50.0	61.0	57.0		1707,1692	-10.5	0.1	19	dbSNP_134	57	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LPHN1	NM_001008701.2,NM_014921.4	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	569/1475,564/1470	14271032	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14271032G>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.1707C>T	19.37:g.14271032G>A						LPHN1_ENST00000361434.3_Silent_p.D564D|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	p.D569D	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			9	2004	-			569					Q96IE7|Q9BU07|Q9HAR3	Silent	SNP	ENST00000340736.6	37	c.1707C>T	CCDS32928.1																																																																																				0.662	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		4	134	0	0	0	1	0	4	134				
RALGDS	5900	broad.mit.edu	37	9	135979652	135979652	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:135979652T>C	ENST00000372050.3	-	10	1690	c.1669A>G	c.(1669-1671)Acg>Gcg	p.T557A	RALGDS_ENST00000372062.3_Missense_Mutation_p.T528A|RALGDS_ENST00000393157.3_Missense_Mutation_p.T556A|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Missense_Mutation_p.T545A|RALGDS_ENST00000393160.3_Missense_Mutation_p.T502A|RALGDS_ENST00000542690.1_Missense_Mutation_p.T628A	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	557	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ACTCTCACCGTCTCCTTCGGC	0.657			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"""PMBL, Hodgkin Lymphona, """		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1504-1506)Acg>Gcg		ral guanine nucleotide dissociation stimulator							76.0	70.0	72.0					9																	135979652		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135979652T>C	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.1669A>G	9.37:g.135979652T>C	ENSP00000361120:p.Thr557Ala					RALGDS_ENST00000372047.3_Missense_Mutation_p.T545A|RALGDS_ENST00000542690.1_Missense_Mutation_p.T628A|RALGDS_ENST00000372062.3_Missense_Mutation_p.T528A|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372050.3_Missense_Mutation_p.T557A|RALGDS_ENST00000393157.3_Missense_Mutation_p.T556A	p.T502A	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	10	1857	-			557			Ras-GEF.		B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.1504A>G	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	T	0.043	-1.274960	0.01410	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000372051;ENST00000393157;ENST00000542690;ENST00000372062;ENST00000424572	T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64	4.56	0.731	0.18277	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.503297	0.19029	N	0.124612	T	0.09818	0.0241	N	0.04787	-0.16	0.28203	N	0.927255	B;B;B;B;B;B;B;B	0.27416	0.0;0.009;0.178;0.018;0.002;0.074;0.074;0.044	B;B;B;B;B;B;B;B	0.20955	0.002;0.017;0.032;0.03;0.017;0.02;0.02;0.017	T	0.30327	-0.9982	10	0.08599	T	0.76	.	4.3035	0.10935	0.3466:0.0924:0.0:0.561	.	628;528;557;545;502;556;545;557	F5H6M6;E7ER93;Q12967-2;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;.;GNDS_HUMAN	A	557;545;502;254;556;628;528;117	ENSP00000361120:T557A;ENSP00000361117:T545A;ENSP00000376867:T502A;ENSP00000376864:T556A;ENSP00000437518:T628A;ENSP00000361132:T528A;ENSP00000391814:T117A	ENSP00000361117:T545A	T	-	1	0	RALGDS	134969473	0.999000	0.42202	0.045000	0.18777	0.042000	0.13812	0.336000	0.19823	0.016000	0.14998	0.482000	0.46254	ACG		0.657	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		28	33	0	0	0	1	0	28	33				
HIVEP3	59269	broad.mit.edu	37	1	42050151	42050151	+	Silent	SNP	C	C	T	rs371696795		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:42050151C>T	ENST00000372583.1	-	4	1203	c.318G>A	c.(316-318)tcG>tcA	p.S106S	HIVEP3_ENST00000372584.1_Silent_p.S106S|HIVEP3_ENST00000247584.5_Silent_p.S106S|HIVEP3_ENST00000429157.2_Silent_p.S106S	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	106					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GTTTGCCAGGCGACATGAATG	0.617																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(316-318)tcG>tcA		human immunodeficiency virus type I enhancer binding protein 3		C	,	0,4406		0,0,2203	144.0	152.0	149.0		318,318	-9.1	0.1	1		149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	HIVEP3	NM_001127714.2,NM_024503.4	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	106/2406,106/2407	42050151	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42050151C>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.318G>A	1.37:g.42050151C>T						HIVEP3_ENST00000429157.2_Silent_p.S106S|HIVEP3_ENST00000372583.1_Silent_p.S106S|HIVEP3_ENST00000247584.5_Silent_p.S106S	p.S106S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	1332	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	106					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Silent	SNP	ENST00000372583.1	37	c.318G>A	CCDS463.1																																																																																				0.617	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		98	42	0	0	0	1	0	98	42				
LEFTY2	7044	broad.mit.edu	37	1	226125277	226125277	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:226125277G>T	ENST00000366820.5	-	4	1313	c.965C>A	c.(964-966)gCc>gAc	p.A322D	RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000420304.2_Missense_Mutation_p.A288D|LEFTY2_ENST00000474493.1_5'Flank	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	322					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GGGCAGCGAGGCAGTCTCCGA	0.647																																					Colon(172;116 2643 9098 43333)	ENST00000366820.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(964-966)gCc>gAc		left-right determination factor 2							39.0	39.0	39.0					1																	226125277		2203	4300	6503	SO:0001583	missense	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226125277G>T	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"""transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"""	601877	"""endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"""	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.965C>A	1.37:g.226125277G>T	ENSP00000355785:p.Ala322Asp					LEFTY2_ENST00000420304.2_Missense_Mutation_p.A288D	p.A322D	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN			4	1313	-	Breast(184;0.197)		322					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Missense_Mutation	SNP	ENST00000366820.5	37	c.965C>A	CCDS1549.1	.	.	.	.	.	.	.	.	.	.	g	18.11	3.551121	0.65311	.	.	ENSG00000143768	ENST00000420304;ENST00000366820	T;T	0.62232	0.04;0.04	5.1	5.1	0.69264	Transforming growth factor-beta, C-terminal (2);	0.352939	0.32819	N	0.005601	T	0.67429	0.2892	L	0.36672	1.1	0.47123	D	0.999328	P;P	0.51147	0.942;0.921	P;P	0.54856	0.697;0.762	T	0.70267	-0.4919	10	0.62326	D	0.03	.	18.4701	0.90771	0.0:0.0:1.0:0.0	.	288;322	E9PDM4;O00292	.;LFTY2_HUMAN	D	288;322	ENSP00000388009:A288D;ENSP00000355785:A322D	ENSP00000355785:A322D	A	-	2	0	LEFTY2	224191900	1.000000	0.71417	0.007000	0.13788	0.143000	0.21401	8.541000	0.90644	2.518000	0.84900	0.561000	0.74099	GCC		0.647	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		3	48	1	0	1	1	1	3	48				
HTT	3064	broad.mit.edu	37	4	3225848	3225848	+	Silent	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr4:3225848G>A	ENST00000355072.5	+	56	7900	c.7755G>A	c.(7753-7755)ccG>ccA	p.P2585P		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2585					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTCTGTCTCCGGCTACTACAG	0.512																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(7753-7755)ccG>ccA		huntingtin							130.0	144.0	140.0					4																	3225848		2141	4261	6402	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3225848G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.7755G>A	4.37:g.3225848G>A							p.P2585P	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	56	7900	+		all_epithelial(65;0.18)	2585					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.7755G>A	CCDS43206.1																																																																																				0.512	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		12	266	0	0	0	1	0	12	266				
PCDHB17	54661	broad.mit.edu	37	5	140537080	140537080	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr5:140537080G>T	ENST00000539533.1	+	1	1504	c.1504G>T	c.(1504-1506)Gcc>Tcc	p.A502S						protocadherin beta 17 pseudogene																		CCTGCCCCTCGCCTCCCTGGT	0.652																																						ENST00000539533.1																			0											c.(1504-1506)Gcc>Tcc																																						SO:0001583	missense	0							g.chr5:140537080G>T	AF152527		5q31	2010-01-26				ENSG00000255622		"""Cadherins / Protocadherins : Clustered"""	14547	pseudogene	pseudogene						10380929	Standard	NR_001280		Approved	PCDH-psi1	uc003lis.3			ENST00000539533.1:c.1504G>T	5.37:g.140537080G>T	ENSP00000438685:p.Ala502Ser						p.A502S							1	1504	+									Missense_Mutation	SNP	ENST00000539533.1	37	c.1504G>T		.	.	.	.	.	.	.	.	.	.	G	0.027	-1.365346	0.01235	.	.	ENSG00000255622	ENST00000539533	T	0.51325	0.71	4.78	1.74	0.24563	.	.	.	.	.	T	0.18467	0.0443	.	.	.	.	.	.	B	0.31859	0.343	B	0.22152	0.038	T	0.34976	-0.9807	7	0.02654	T	1	.	7.387	0.26888	0.1515:0.0:0.6538:0.1947	.	502	Q96T98	.	S	502	ENSP00000438685:A502S	ENSP00000438685:A502S	A	+	1	0	AC005754.1	140517264	0.000000	0.05858	0.028000	0.17463	0.237000	0.25408	-0.819000	0.04462	0.529000	0.28599	0.556000	0.70494	GCC		0.652	PCDHB17-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				99	172	1	0	3.98107e-36	1	4.33892e-36	99	172				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	68	0	0	0	1	0	4	68				
MYT1L	23040	broad.mit.edu	37	2	1926215	1926215	+	Silent	SNP	C	C	T			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:1926215C>T	ENST00000399161.2	-	10	2073	c.1326G>A	c.(1324-1326)acG>acA	p.T442T	MYT1L_ENST00000428368.2_Silent_p.T442T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	442					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTGCTCTTTCCGTTTCCAAAG	0.547																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(1324-1326)acG>acA		myelin transcription factor 1-like							159.0	155.0	156.0					2																	1926215		2018	4163	6181	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926215C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1326G>A	2.37:g.1926215C>T						MYT1L_ENST00000428368.2_Silent_p.T442T	p.T442T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	2073	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	442					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.1326G>A																																																																																					0.547	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		66	98	0	0	0	1	0	66	98				
CACNA1S	779	broad.mit.edu	37	1	201042735	201042735	+	Missense_Mutation	SNP	G	G	A	rs147112322		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:201042735G>A	ENST00000362061.3	-	15	2325	c.2099C>T	c.(2098-2100)aCg>aTg	p.T700M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.T700M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	700					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTGGCCATCGTTGACTTCTC	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		21114	0.0		0.001	False		,,,				2504	0.0					ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(2098-2100)aCg>aTg		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	380.0	361.0	368.0		2099	-1.4	0.0	1	dbSNP_134	368	0,8600		0,0,4300	yes	missense	CACNA1S	NM_000069.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	700/1874	201042735	1,13005	2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201042735G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2099C>T	1.37:g.201042735G>A	ENSP00000355192:p.Thr700Met					CACNA1S_ENST00000367338.3_Missense_Mutation_p.T700M	p.T700M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			15	2325	-			700					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.2099C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	4.026	0.002315	0.07819	2.27E-4	0.0	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96104	-3.91;-3.84	4.39	-1.38	0.09027	.	86.564400	0.05806	U	0.613207	T	0.81837	0.4907	N	0.00182	-1.905	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.71354	-0.4618	10	0.45353	T	0.12	.	10.866	0.46856	0.5244:0.0:0.4756:0.0	.	700	Q13698	CAC1S_HUMAN	M	700	ENSP00000355192:T700M;ENSP00000356307:T700M	ENSP00000355192:T700M	T	-	2	0	CACNA1S	199309358	0.000000	0.05858	0.000000	0.03702	0.387000	0.30353	-0.625000	0.05534	-0.602000	0.05775	-1.050000	0.02344	ACG		0.542	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		52	515	0	0	0	1	0	52	515				
ERCC6	2074	broad.mit.edu	37	10	50667030	50667030	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:50667030T>C	ENST00000355832.5	-	21	4391	c.4313A>G	c.(4312-4314)cAg>cGg	p.Q1438R	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000465653.1_5'Flank|ERCC6_ENST00000542458.1_Missense_Mutation_p.Q808R	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1438					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGTGTGGGCCTGGAAAGCGAT	0.517								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4312-4314)cAg>cGg	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							105.0	96.0	99.0					10																	50667030		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50667030T>C	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.4313A>G	10.37:g.50667030T>C	ENSP00000348089:p.Gln1438Arg					ERCC6_ENST00000542458.1_Missense_Mutation_p.Q808R|RP11-123B3.2_ENST00000423283.1_RNA	p.Q1438R	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			21	4391	-			1438					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.4313A>G	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.400787	0.42613	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.83335	-1.71;-1.43	5.48	5.48	0.80851	.	.	.	.	.	T	0.75547	0.3864	M	0.68593	2.085	0.58432	D	0.999998	P;B	0.36599	0.56;0.128	B;B	0.31547	0.132;0.045	T	0.72481	-0.4280	9	0.05833	T	0.94	-21.0349	11.0062	0.47635	0.0:0.0729:0.0:0.9271	.	1438;815	Q03468;Q59FF6	ERCC6_HUMAN;.	R	1438;815;808	ENSP00000348089:Q1438R;ENSP00000445134:Q808R	ENSP00000348089:Q1438R	Q	-	2	0	ERCC6	50337036	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.657000	0.61490	2.207000	0.71202	0.460000	0.39030	CAG		0.517	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		3	118	0	0	0	1	0	3	118				
WBSCR22	114049	broad.mit.edu	37	7	73098232	73098232	+	Intron	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:73098232G>A	ENST00000265758.2	+	2	144				DNAJC30_ENST00000395176.2_5'Flank|WBSCR22_ENST00000423166.2_Splice_Site|WBSCR22_ENST00000464615.1_Intron|WBSCR22_ENST00000423497.1_Intron	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				GAATTTGGGGGTGCGGGAAGG	0.612																																						ENST00000423166.2																			0				autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13						c.e2+1		Williams Beuren syndrome chromosome region 22																																				SO:0001627	intron_variant	114049					nucleus	methyltransferase activity	g.chr7:73098232G>A	AF420248	CCDS5557.1, CCDS56490.1	7q11.23	2012-06-12			ENSG00000071462	ENSG00000071462			16405	protein-coding gene	gene with protein product	"""metastasis-related methyltransferase 1"""	615733				12073013, 11978965, 21148752	Standard	NM_001202560		Approved	MGC19709, MGC2022, MGC5140, PP3381, WBMT, MERM1	uc003tyt.3	O43709	OTTHUMG00000023306	ENST00000265758.2:c.86+98G>A	7.37:g.73098232G>A						WBSCR22_ENST00000265758.2_Intron|WBSCR22_ENST00000423497.1_Intron|WBSCR22_ENST00000464615.1_Intron				O43709	WBS22_HUMAN			2	202	+		Lung NSC(55;0.0908)|all_lung(88;0.198)						A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Splice_Site	SNP	ENST00000265758.2	37		CCDS5557.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102285	0.37145	.	.	ENSG00000071462	ENST00000423166	.	.	.	4.19	3.29	0.37713	.	.	.	.	.	.	.	.	.	.	.	0.32671	N	0.516735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0945	0.42466	0.0:0.2038:0.7962:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WBSCR22	72736168	0.000000	0.05858	0.006000	0.13384	0.215000	0.24574	0.342000	0.19926	1.324000	0.45282	0.462000	0.41574	.		0.612	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252303.1			5	27	0	0	0	1	0	5	27				
SLC22A10	387775	broad.mit.edu	37	11	63064875	63064875	+	Missense_Mutation	SNP	C	C	T	rs200183991		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:63064875C>T	ENST00000332793.6	+	3	609	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	SLC22A10_ENST00000544661.1_Missense_Mutation_p.R48C|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000525620.1_3'UTR	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	203						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	CTGTGTACTACGCTTCTTGGC	0.408																																						ENST00000544661.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(142-144)Cgc>Tgc		solute carrier family 22, member 10		C	CYS/ARG	2,4092		0,2,2045	170.0	169.0	169.0		607	2.3	0.3	11		169	0,8428		0,0,4214	yes	missense	SLC22A10	NM_001039752.3	180	0,2,6259	TT,TC,CC		0.0,0.0489,0.016	probably-damaging	203/542	63064875	2,12520	2047	4214	6261	SO:0001583	missense	387775					integral to membrane	transmembrane transporter activity	g.chr11:63064875C>T	AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.607C>T	11.37:g.63064875C>T	ENSP00000327569:p.Arg203Cys					SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000332793.6_Missense_Mutation_p.R203C	p.R48C			Q63ZE4	S22AA_HUMAN			4	570	+			203					Q68CJ0	Missense_Mutation	SNP	ENST00000332793.6	37	c.142C>T	CCDS41661.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306314	0.60305	4.89E-4	0.0	ENSG00000184999	ENST00000544661;ENST00000332793	D;D	0.90261	-2.64;-2.64	3.26	2.34	0.29019	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.066213	0.64402	N	0.000009	D	0.93341	0.7877	M	0.92077	3.27	0.80722	D	1	P	0.50819	0.939	P	0.50352	0.638	D	0.92539	0.6040	10	0.72032	D	0.01	.	8.4548	0.32893	0.0:0.8776:0.0:0.1224	.	203	Q63ZE4	S22AA_HUMAN	C	48;203	ENSP00000445667:R48C;ENSP00000327569:R203C	ENSP00000327569:R203C	R	+	1	0	SLC22A10	62821451	0.772000	0.28567	0.265000	0.24526	0.132000	0.20833	1.238000	0.32707	0.751000	0.32900	0.447000	0.29281	CGC		0.408	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382622.3	NM_001039752		4	130	0	0	0	1	0	4	130				
AQP4	361	broad.mit.edu	37	18	24442317	24442317	+	Silent	SNP	G	G	A			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr18:24442317G>A	ENST00000383168.4	-	2	404	c.276C>T	c.(274-276)agC>agT	p.S92S	AQP4_ENST00000583022.1_5'Flank|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Silent_p.S70S|AQP4-AS1_ENST00000568797.1_RNA|AQP4_ENST00000581374.1_Silent_p.S70S	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	92					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TGTGGCCACCGCTGATATGGC	0.557																																						ENST00000383168.4																			0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(274-276)agC>agT		aquaporin 4							125.0	106.0	113.0					18																	24442317		2203	4300	6503	SO:0001819	synonymous_variant	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24442317G>A	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.276C>T	18.37:g.24442317G>A						AQP4_ENST00000440832.3_Silent_p.S70S|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Silent_p.S70S	p.S92S	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN			2	404	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		92					P78564	Silent	SNP	ENST00000383168.4	37	c.276C>T	CCDS11889.1																																																																																				0.557	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		5	130	0	0	0	1	0	5	130				
TIAM1	7074	broad.mit.edu	37	21	32589897	32589897	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr21:32589897T>C	ENST00000286827.3	-	10	2585	c.2114A>G	c.(2113-2115)aAg>aGg	p.K705R	TIAM1_ENST00000541036.1_Missense_Mutation_p.K705R|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	705					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCCCTGCTTCTTTTTGGAGGT	0.522																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(2113-2115)aAg>aGg		T-cell lymphoma invasion and metastasis 1							185.0	165.0	172.0					21																	32589897		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32589897T>C		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2114A>G	21.37:g.32589897T>C	ENSP00000286827:p.Lys705Arg					TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.K705R	p.K705R	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			10	2585	-			705					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.2114A>G	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.145706	0.57044	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.42131	0.98;0.98	5.41	5.41	0.78517	.	0.213846	0.47852	D	0.000209	T	0.46308	0.1386	N	0.14661	0.345	0.58432	D	0.999997	B;D;B;D	0.69078	0.025;0.997;0.034;0.997	B;D;B;D	0.75020	0.022;0.985;0.012;0.985	T	0.42682	-0.9437	10	0.27785	T	0.31	.	15.6039	0.76646	0.0:0.0:0.0:1.0	.	705;705;546;705	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	R	705;546;705	ENSP00000286827:K705R;ENSP00000441570:K705R	ENSP00000286827:K705R	K	-	2	0	TIAM1	31511768	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.783000	0.85696	2.261000	0.74972	0.533000	0.62120	AAG		0.522	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		84	91	0	0	0	1	0	84	91				
FAM83D	81610	broad.mit.edu	37	20	37580213	37580213	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:37580213A>C	ENST00000217429.4	+	4	939	c.898A>C	c.(898-900)Agt>Cgt	p.S300R		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	270					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				ATTAAACAGCAGTAACTTGGT	0.428																																						ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(898-900)Agt>Cgt		family with sequence similarity 83, member D							104.0	99.0	101.0					20																	37580213		1913	4121	6034	SO:0001583	missense	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580213A>C	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.898A>C	20.37:g.37580213A>C	ENSP00000217429:p.Ser300Arg						p.S300R	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			4	939	+		Myeloproliferative disorder(115;0.00878)	270					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Missense_Mutation	SNP	ENST00000217429.4	37	c.898A>C	CCDS42872.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.824959	0.90955	.	.	ENSG00000101447	ENST00000217429;ENST00000424027	T	0.13901	2.55	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.42698	0.1214	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.42932	-0.9422	10	0.87932	D	0	.	16.0893	0.81082	1.0:0.0:0.0:0.0	.	270	Q9H4H8	FA83D_HUMAN	R	300;254	ENSP00000217429:S300R	ENSP00000217429:S300R	S	+	1	0	FAM83D	37013627	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.021000	0.76425	2.279000	0.76181	0.533000	0.62120	AGT		0.428	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			4	75	0	0	0	1	0	4	75				
NAGPA	51172	broad.mit.edu	37	16	5081777	5081777	+	Silent	SNP	T	T	C			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr16:5081777T>C	ENST00000312251.3	-	3	670	c.651A>G	c.(649-651)caA>caG	p.Q217Q	ALG1_ENST00000588623.1_5'Flank|NAGPA_ENST00000564922.1_5'Flank|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Silent_p.Q217Q	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	217					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	ACTCTGTGGCTTGGCTCTCGT	0.572																																						ENST00000312251.3																			0				endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12						c.(649-651)caA>caG		N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	N-Acetyl-D-glucosamine(DB00141)						241.0	210.0	220.0					16																	5081777		2197	4300	6497	SO:0001819	synonymous_variant	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5081777T>C	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.651A>G	16.37:g.5081777T>C						NAGPA_ENST00000381955.3_Silent_p.Q217Q|RP11-165E7.1_ENST00000588778.1_RNA	p.Q217Q	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN			3	670	-			217					B2RAS1|Q96EJ8	Silent	SNP	ENST00000312251.3	37	c.651A>G	CCDS10527.1																																																																																				0.572	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		147	222	0	0	0	1	0	147	222				
KRTAP10-8	386681	broad.mit.edu	37	21	46032410	46032410	+	Silent	SNP	C	C	T	rs587687321		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr21:46032410C>T	ENST00000334662.2	+	1	415	c.393C>T	c.(391-393)ccC>ccT	p.P131P	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	131	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						GCTGCAAGCCCGTGTGCTGCG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		20954	0.0		0.0	False		,,,				2504	0.001					ENST00000334662.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(391-393)ccC>ccT		keratin associated protein 10-8							169.0	134.0	146.0					21																	46032410		2203	4300	6503	SO:0001819	synonymous_variant	386681					keratin filament		g.chr21:46032410C>T	AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"""Keratin associated proteins"""	20525	protein-coding gene	gene with protein product			"""keratin associated protein 18-8"""	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.393C>T	21.37:g.46032410C>T						TSPEAR_ENST00000323084.4_Intron	p.P131P	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN			1	415	+			131			19 X 5 AA repeats of C-C-X(3).		A0JNW4	Silent	SNP	ENST00000334662.2	37	c.393C>T	CCDS13713.1																																																																																				0.632	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128035.1	NM_198695		6	272	0	0	0	1	0	6	272				
TTK	7272	broad.mit.edu	37	6	80751897	80751897	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:80751897delA	ENST00000369798.2	+	22	2663	c.2552delA	c.(2551-2553)gaafs	p.E851fs	TTK_ENST00000509894.1_Frame_Shift_Del_p.E850fs|TTK_ENST00000230510.3_Frame_Shift_Del_p.E850fs	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	851					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)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		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)		AAGACTTTTGAAAAAAAAAGG	0.299																																						ENST00000509894.1																			6	Deletion - Frameshift(5)|Insertion - Frameshift(1)	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)	stomach(2)|ovary(2)|lung(1)|large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2548-2550)gafs		TTK protein kinase							48.0	52.0	51.0					6																	80751897		2202	4283	6485	SO:0001589	frameshift_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.chr6:80751897delA		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.2552delA	6.37:g.80751897delA	ENSP00000358813:p.Glu851fs					TTK_ENST00000230510.3_Frame_Shift_Del_p.E850fs|TTK_ENST00000369798.2_Frame_Shift_Del_p.E851fs	p.E850fs			P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	22	3378	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	851					A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Frame_Shift_Del	DEL	ENST00000369798.2	37	c.2549delA	CCDS4993.1																																																																																				0.299	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2			7	114						7	114	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87968456	87968457	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:87968456_87968457delAG	ENST00000369577.3	+	8	5152_5153	c.5109_5110delAG	c.(5107-5112)aaagagfs	p.E1704fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.E1699fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1704						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)		CTGATGTAAAAGAGAATTTCAA	0.327																																						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.(5107-5112)aaagfs		zinc finger protein 292																																				SO:0001589	frameshift_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968456_87968457delAG	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.5109_5110delAG	6.37:g.87968458_87968459delAG	ENSP00000358590:p.Glu1704fs					ZNF292_ENST00000339907.4_Frame_Shift_Del_p.KE1698fs	p.KE1703fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5152_5153	+		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)	1703					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Frame_Shift_Del	DEL	ENST00000369577.3	37	c.5109_5110delAG	CCDS47457.1																																																																																				0.327	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		12	31						12	31	---	---	---	---
C6orf58	352999	broad.mit.edu	37	6	127911321	127911321	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:127911321delC	ENST00000329722.7	+	5	776	c.764delC	c.(763-765)accfs	p.T255fs		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	255						extracellular vesicular exosome (GO:0070062)				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TTTCCTACAACCTTGATTAGA	0.388																																						ENST00000329722.7																			0				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15						c.(763-765)acfs		chromosome 6 open reading frame 58							150.0	149.0	149.0					6																	127911321		2203	4300	6503	SO:0001589	frameshift_variant	352999					extracellular region		g.chr6:127911321delC	BC062712	CCDS34533.1	6q22.33	2011-12-13			ENSG00000184530	ENSG00000184530			20960	protein-coding gene	gene with protein product							Standard	NM_001010905		Approved		uc003qbh.4	Q6P5S2	OTTHUMG00000015530	ENST00000329722.7:c.764delC	6.37:g.127911321delC	ENSP00000328069:p.Thr255fs						p.T255fs	NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN		GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)	5	776	+			255					B4E1I0|Q5VUP2	Frame_Shift_Del	DEL	ENST00000329722.7	37	c.764delC	CCDS34533.1																																																																																				0.388	C6orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042152.1	NM_001010905		7	190						7	190	---	---	---	---
POLR2J4	84820	broad.mit.edu	37	7	44056176	44056177	+	RNA	DEL	CT	CT	-	rs376381973		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:44056176_44056177delCT	ENST00000427076.1	-	0	89				RP5-1165K10.2_ENST00000454572.1_RNA|POLR2J4_ENST00000326391.6_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		TCCTCCCACCCTGAGTCTAAAC	0.559																																						ENST00000427076.1																			0																																																			0							g.chr7:44056176_44056177delCT			7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44056176_44056177delCT								NR_003655.2						0	89	-									RNA	DEL	ENST00000427076.1	37																																																																																						0.559	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473169.1	NR_003655		5	8						5	8	---	---	---	---
OR2A14	135941	broad.mit.edu	37	7	143826799	143826799	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:143826799delC	ENST00000408899.2	+	1	649	c.594delC	c.(592-594)atcfs	p.I198fs		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	198						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AGGTGGTCATCTTTGCAGCCT	0.577																																						ENST00000408899.2																			0				large_intestine(4)|lung(17)|skin(1)	22						c.(592-594)atfs		olfactory receptor, family 2, subfamily A, member 14							157.0	163.0	161.0					7																	143826799		2026	4189	6215	SO:0001589	frameshift_variant	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826799delC		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.594delC	7.37:g.143826799delC	ENSP00000386137:p.Ile198fs						p.I198fs	NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN			1	649	+	Melanoma(164;0.0783)		198					Q6IF41|Q8NGT8	Frame_Shift_Del	DEL	ENST00000408899.2	37	c.594delC	CCDS43672.1																																																																																				0.577	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			184	245						184	245	---	---	---	---
GOT1L1	137362	broad.mit.edu	37	8	37791833	37791834	+	Frame_Shift_Ins	INS	-	-	T	rs370114090	byFrequency	TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr8:37791833_37791834insT	ENST00000307599.4	-	9	1342_1343	c.1243_1244insA	c.(1243-1245)acafs	p.T415fs		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	415					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			TCCAATCAGTGTTTTTTTTTCC	0.371													?|TTTTTTTTT|TTTTTTTTTT|unsure	7	0.00139776	0.0	0.0	5008	,	,		21654	0.0069		0.0	False		,,,				2504	0.0					ENST00000307599.4																			0				central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14						c.(1243-1245)actfs		glutamic-oxaloacetic transaminase 1-like 1																																				SO:0001589	frameshift_variant	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37791833_37791834insT	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.1244dupA	8.37:g.37791842_37791842dupT	ENSP00000303077:p.Thr415fs						p.T415fs	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		9	1342_1343	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	415					A8MWL4	Frame_Shift_Ins	INS	ENST00000307599.4	37	c.1243_1244insA	CCDS47839.1																																																																																				0.371	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		8	94						8	94	---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596|rs67450550|rs397711020	byFrequency	TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58						nucleus (GO:0005634)		p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748														1722	0.34385	0.084	0.317	5008	,	,		12964	0.4345		0.4304	False		,,,				2504	0.5317					ENST00000263773.5																			3	Deletion - In frame(3)	p.T58_T59delTT(3)	prostate(1)|breast(1)|central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(172-177)del		formin binding protein 4				233,2043		62,109,967						-2.3	0.0		dbSNP_130	3	1924,3380		655,614,1383	no	coding	FNBP4	NM_015308.2		717,723,2350	A1A1,A1R,RR		36.2745,10.2373,28.4565				2157,5423				SO:0001651	inframe_deletion	23360							g.chr11:47788664_47788669delGGTGGT	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.172_177delACCACC	11.37:g.47788670_47788675delGGTGGT	ENSP00000263773:p.Thr58_Thr59del					FNBP4_ENST00000534003.1_5'UTR	p.TT58del	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			1	184_189	-			58					Q9H985|Q9NT81|Q9Y2L7	In_Frame_Del	DEL	ENST00000263773.5	37	c.172_177delACCACC	CCDS41644.1																																																																																				0.748	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			5	3						5	3	---	---	---	---
GSE1	23199	broad.mit.edu	37	16	85682290	85682290	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr16:85682290delC	ENST00000253458.7	+	3	535	c.359delC	c.(358-360)accfs	p.T120fs	GSE1_ENST00000405402.2_Frame_Shift_Del_p.T16fs|GSE1_ENST00000393243.1_Frame_Shift_Del_p.T47fs	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	120								p.V123fs*2(1)									GTGCCCAGCACCCCCCCCGTG	0.687																																						ENST00000253458.7																			1	Deletion - Frameshift(1)	p.V123fs*2(1)	ovary(1)								c.(358-360)acfs		Gse1 coiled-coil protein							64.0	64.0	64.0					16																	85682290		2197	4300	6497	SO:0001589	frameshift_variant	23199							g.chr16:85682290delC	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.359delC	16.37:g.85682290delC	ENSP00000253458:p.Thr120fs					GSE1_ENST00000393243.1_Frame_Shift_Del_p.T47fs|GSE1_ENST00000405402.2_Frame_Shift_Del_p.T16fs	p.T120fs	NM_014615.2	NP_055430.1					3	535	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Frame_Shift_Del	DEL	ENST00000253458.7	37	c.359delC	CCDS10952.1																																																																																				0.687	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		9	213						9	213	---	---	---	---
DDX5	1655	broad.mit.edu	37	17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr17:62500099_62500102delACAG	ENST00000225792.5	-	4	841_843	c.440_442delCTGT	c.(439-444)tctgta>tta	p.SV147fs	DDX5_ENST00000578804.1_Splice_Site_p.SV147fs|CEP95_ENST00000556440.2_5'Flank|DDX5_ENST00000450599.2_Intron|DDX5_ENST00000580026.1_5'Flank|MIR5047_ENST00000579212.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	147	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	ENST00000225792.5				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.e4+1		DEAD (Asp-Glu-Ala-Asp) box helicase 5																																				SO:0001630	splice_region_variant	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62500099_62500102delACAG	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.441+1CTGT>-	17.37:g.62500099_62500102delACAG						DDX5_ENST00000450599.2_Intron|DDX5_ENST00000578804.1_Splice_Site_p.L149_splice	p.L149_splice	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		4	841_843	-	Breast(5;2.15e-14)		149			Helicase ATP-binding.		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Splice_Site	DEL	ENST00000225792.5	37	c.441_splice	CCDS11659.1																																																																																				0.397	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396	Frame_Shift_Del	118	248						118	248	---	---	---	---
