#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
FUT8	2530	broad.mit.edu	37	14	66096323	66096323	+	Splice_Site	SNP	A	A	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr14:66096323A>T	ENST00000360689.5	+	6	2323	c.596A>T	c.(595-597)cAg>cTg	p.Q199L	FUT8_ENST00000394586.2_Splice_Site_p.Q199L|FUT8_ENST00000394585.1_Splice_Site_p.Q199L|FUT8_ENST00000358307.2_Splice_Site_p.Q70L|FUT8_ENST00000557164.1_Splice_Site_p.Q36L	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	199					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ACATATCTTCAGGTAAGAAGG	0.383																																						ENST00000360689.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22						c.e6+1		fucosyltransferase 8 (alpha (1,6) fucosyltransferase)							88.0	85.0	86.0					14																	66096323		2203	4300	6503	SO:0001630	splice_region_variant	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66096323A>T	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.597+1A>T	14.37:g.66096323A>T						FUT8_ENST00000557164.1_Splice_Site_p.Q36_splice|FUT8_ENST00000394586.2_Splice_Site_p.Q199_splice|FUT8_ENST00000358307.2_Splice_Site_p.Q70_splice|FUT8_ENST00000394585.1_Splice_Site_p.Q199_splice	p.Q199_splice	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	6	2323	+			199					B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Splice_Site	SNP	ENST00000360689.5	37	c.597_splice	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.573204	0.86542	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000557164;ENST00000394585;ENST00000358307	T;T;T;T;T	0.38560	1.13;1.13;1.13;1.13;1.13	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.67869	0.2939	M	0.87971	2.92	0.80722	D	1	D;D	0.67145	0.982;0.996	D;D	0.73380	0.915;0.98	T	0.74450	-0.3661	10	0.87932	D	0	-8.9424	13.5154	0.61537	1.0:0.0:0.0:0.0	.	70;199	G3XAD2;Q9BYC5	.;FUT8_HUMAN	L	199;199;36;199;70	ENSP00000353910:Q199L;ENSP00000378087:Q199L;ENSP00000452433:Q36L;ENSP00000378086:Q199L;ENSP00000351057:Q70L	ENSP00000345865:Q199L	Q	+	2	0	FUT8	65166076	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.649000	0.91067	2.132000	0.65825	0.528000	0.53228	CAG		0.383	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480	Missense_Mutation	16	30	0	0	0	1	0	16	30				
CNGB3	54714	broad.mit.edu	37	8	87645034	87645034	+	Silent	SNP	A	A	G			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr8:87645034A>G	ENST00000320005.5	-	11	1313	c.1266T>C	c.(1264-1266)ttT>ttC	p.F422F		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	422					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCAAGAGTTGAAAAACAATTT	0.353																																						ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1264-1266)ttT>ttC		cyclic nucleotide gated channel beta 3							56.0	57.0	57.0					8																	87645034		2203	4298	6501	SO:0001819	synonymous_variant	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87645034A>G	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1266T>C	8.37:g.87645034A>G							p.F422F	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			11	1313	-			422					C9JA51|Q9NRE9	Silent	SNP	ENST00000320005.5	37	c.1266T>C	CCDS6244.1																																																																																				0.353	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		24	20	0	0	0	1	0	24	20				
POTEE	445582	broad.mit.edu	37	2	132021463	132021463	+	Missense_Mutation	SNP	C	C	T	rs200002532	byFrequency	TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:132021463C>T	ENST00000356920.5	+	15	2529	c.2435C>T	c.(2434-2436)cCc>cTc	p.P812L	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	812	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CCCCTGAACCCCAAGGCCAAC	0.602																																						ENST00000356920.5																			0											c.(2434-2436)cCc>cTc		POTE ankyrin domain family, member E							70.0	73.0	72.0					2																	132021463		2170	4255	6425	SO:0001583	missense	445582						ATP binding	g.chr2:132021463C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2435C>T	2.37:g.132021463C>T	ENSP00000439189:p.Pro812Leu					POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	p.P812L	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			15	2529	+			812			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.2435C>T	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	15.68	2.904828	0.52333	.	.	ENSG00000188219	ENST00000356920	D	0.97575	-4.44	.	.	.	Actin/actin-like conserved site (1);	.	.	.	.	D	0.98454	0.9485	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96843	0.9619	8	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	812	Q6S8J3	POTEE_HUMAN	L	812	ENSP00000439189:P812L	ENSP00000439189:P812L	P	+	2	0	AC131180.1	131737933	1.000000	0.71417	0.245000	0.24217	0.248000	0.25809	5.240000	0.65378	0.119000	0.18210	0.121000	0.15741	CCC		0.602	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		24	97	0	0	0	1	0	24	97				
SLC4A1	6521	broad.mit.edu	37	17	42335371	42335371	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:42335371G>T	ENST00000262418.6	-	11	1420	c.1265C>A	c.(1264-1266)aCc>aAc	p.T422N	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	422	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCCGCCGAAGGTGATGGCGGG	0.572																																						ENST00000262418.6																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(1264-1266)aCc>aAc		solute carrier family 4 (anion exchanger), member 1							66.0	61.0	63.0					17																	42335371		2203	4300	6503	SO:0001583	missense	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42335371G>T		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1265C>A	17.37:g.42335371G>T	ENSP00000262418:p.Thr422Asn					AC003043.1_ENST00000597382.1_Intron	p.T422N	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	11	1420	-		Breast(137;0.014)|Prostate(33;0.0181)	422			Membrane (anion exchange).		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	ENST00000262418.6	37	c.1265C>A	CCDS11481.1	.	.	.	.	.	.	.	.	.	.	g	25.8	4.672247	0.88348	.	.	ENSG00000004939	ENST00000262418	D	0.85013	-1.93	5.04	5.04	0.67666	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94785	0.8316	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.96097	0.9066	10	0.87932	D	0	.	17.322	0.87238	0.0:0.0:1.0:0.0	.	422;422	E2RVJ0;P02730	.;B3AT_HUMAN	N	422	ENSP00000262418:T422N	ENSP00000262418:T422N	T	-	2	0	SLC4A1	39690897	1.000000	0.71417	0.994000	0.49952	0.819000	0.46315	9.657000	0.98554	2.619000	0.88677	0.561000	0.74099	ACC		0.572	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	NM_000342		29	27	1	0	1.56442e-22	1	1.74847e-22	29	27				
MAGEC1	9947	broad.mit.edu	37	X	140993967	140993967	+	Silent	SNP	T	T	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:140993967T>A	ENST00000285879.4	+	4	1063	c.777T>A	c.(775-777)acT>acA	p.T259T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	259										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGAGTACTTTTGAGGGTT	0.502										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(775-777)acT>acA		melanoma antigen family C, 1							74.0	56.0	62.0					X																	140993967		2023	3698	5721	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140993967T>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.777T>A	X.37:g.140993967T>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.T259T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1063	+	Acute lymphoblastic leukemia(192;6.56e-05)		259					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.777T>A	CCDS35417.1																																																																																				0.502	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		75	24	0	0	0	1	0	75	24				
DMPK	1760	broad.mit.edu	37	19	46274858	46274858	+	Missense_Mutation	SNP	C	C	A	rs145245565		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:46274858C>A	ENST00000291270.4	-	12	1693	c.1568G>T	c.(1567-1569)cGg>cTg	p.R523L	DMPK_ENST00000354227.5_Missense_Mutation_p.R518L|DMPK_ENST00000600757.1_Missense_Mutation_p.R528L|DMPK_ENST00000447742.2_Missense_Mutation_p.R518L|SIX5_ENST00000560168.1_5'Flank|AC074212.6_ENST00000591530.1_RNA|AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000592217.2_RNA|AC074212.6_ENST00000586498.1_RNA|SIX5_ENST00000317578.6_5'Flank|AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000586251.1_RNA|DMPK_ENST00000458663.2_Missense_Mutation_p.R518L|DMPK_ENST00000343373.4_Missense_Mutation_p.R533L	NM_004409.3	NP_004400.4	Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	523					cellular calcium ion homeostasis (GO:0006874)|muscle cell apoptotic process (GO:0010657)|nuclear envelope organization (GO:0006998)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction (GO:0014853)|regulation of heart contraction (GO:0008016)|regulation of myotube differentiation (GO:0010830)|regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of mitochondrial outer membrane (GO:0031307)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|myosin phosphatase regulator activity (GO:0017020)|protein serine/threonine kinase activity (GO:0004674)			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CAACTCCATCCGCTCCTGCAA	0.677																																					Esophageal Squamous(35;307 869 9153 24033 28903)	ENST00000600757.1																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16						c.(1582-1584)cGg>cTg		dystrophia myotonica-protein kinase		C	LEU/ARG,LEU/ARG,LEU/ARG,LEU/ARG	1,4405	2.1+/-5.4	0,1,2202	64.0	57.0	60.0		1553,1553,1598,1568	2.2	1.0	19	dbSNP_134	60	0,8600		0,0,4300	no	missense,missense,missense,missense	DMPK	NM_001081560.1,NM_001081562.1,NM_001081563.1,NM_004409.3	102,102,102,102	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign	518/625,518/626,533/640,523/630	46274858	1,13005	2203	4300	6503	SO:0001583	missense	1760				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:46274858C>A	L19268	CCDS12674.1, CCDS46117.1, CCDS46118.1, CCDS46119.1, CCDS74400.1	19q13.3	2014-02-05					2.7.11.1		2933	protein-coding gene	gene with protein product	"""dystrophia myotonica 1"", ""DM protein kinase"", ""myotonin protein kinase A"", ""myotonic dystrophy associated protein kinase"", ""thymopoietin homolog"""	605377	"""dystrophia myotonica 1 (includes dystrophia myotonia protein kinase)"""	DM1, DM		1546325, 1546326	Standard	NM_001288765		Approved	DMK, DM1PK, MDPK, MT-PK	uc002pdf.1	Q09013		ENST00000291270.4:c.1568G>T	19.37:g.46274858C>A	ENSP00000291270:p.Arg523Leu					DMPK_ENST00000354227.5_Missense_Mutation_p.R518L|AC074212.6_ENST00000586251.1_RNA|AC074212.6_ENST00000590076.1_RNA|DMPK_ENST00000458663.2_Missense_Mutation_p.R518L|DMPK_ENST00000447742.2_Missense_Mutation_p.R518L|DMPK_ENST00000343373.4_Missense_Mutation_p.R533L|DMPK_ENST00000291270.4_Missense_Mutation_p.R523L|AC074212.6_ENST00000591530.1_RNA|AC074212.6_ENST00000586498.1_RNA	p.R528L			Q09013	DMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)	11	2270	-		Ovarian(192;0.0308)|all_neural(266;0.112)	533					E5KR08|Q16205|Q6P5Z6	Missense_Mutation	SNP	ENST00000291270.4	37	c.1583G>T	CCDS12674.1	.	.	.	.	.	.	.	.	.	.	c	14.92	2.678264	0.47886	2.27E-4	0.0	ENSG00000104936	ENST00000458663;ENST00000342805;ENST00000291270;ENST00000447742;ENST00000377750;ENST00000343373;ENST00000348168;ENST00000354227	T;T;T;T;T	0.70164	-0.46;-0.35;-0.4;-0.36;-0.24	4.36	2.24	0.28232	Myotonic dystrophy protein kinase, coiled coil (2);	0.587686	0.14067	N	0.343684	T	0.62804	0.2458	N	0.24115	0.695	0.80722	D	1	B;P;P;P;P;P;D;P	0.58620	0.159;0.881;0.891;0.911;0.902;0.911;0.983;0.929	B;P;B;P;P;P;P;P	0.57846	0.033;0.51;0.43;0.565;0.643;0.565;0.828;0.665	T	0.60530	-0.7245	10	0.72032	D	0.01	.	6.5825	0.22602	0.0:0.7817:0.0:0.2183	.	518;523;549;518;518;523;565;533	Q09013-12;Q09013-16;G5E982;E5KR07;E5KR05;Q09013;Q59FU6;E5KR08	.;.;.;.;.;DMPK_HUMAN;.;.	L	518;549;523;518;518;533;533;518	ENSP00000401753:R518L;ENSP00000291270:R523L;ENSP00000413417:R518L;ENSP00000345997:R533L;ENSP00000346168:R518L	ENSP00000291270:R523L	R	-	2	0	DMPK	50966698	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	0.757000	0.26433	0.484000	0.27630	-0.339000	0.08088	CGG		0.677	DMPK-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460572.1	NM_004409		7	21	1	0	2.0095e-06	1	2.12114e-06	7	21				
GGT5	2687	broad.mit.edu	37	22	24621346	24621346	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr22:24621346C>A	ENST00000327365.4	-	10	1786	c.1370G>T	c.(1369-1371)aGg>aTg	p.R457M	GGT5_ENST00000398292.3_Missense_Mutation_p.R458M|GGT5_ENST00000263112.7_Missense_Mutation_p.R425M|GGT5_ENST00000418439.2_Missense_Mutation_p.R381M	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	457					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GGGCCAGCACCTTCCGGGAGC	0.617																																						ENST00000327365.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(1369-1371)aGg>aTg		gamma-glutamyltransferase 5							69.0	67.0	68.0					22																	24621346		2203	4300	6503	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24621346C>A	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1370G>T	22.37:g.24621346C>A	ENSP00000330080:p.Arg457Met					GGT5_ENST00000263112.7_Missense_Mutation_p.R425M|GGT5_ENST00000398292.3_Missense_Mutation_p.R458M|GGT5_ENST00000418439.2_Missense_Mutation_p.R381M	p.R457M	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			10	1786	-			457					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.1370G>T	CCDS13825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.578|9.578	1.122783|1.122783	0.20959|0.20959	.|.	.|.	ENSG00000099998|ENSG00000099998	ENST00000425408|ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439	.|T;T;T;T	.|0.22134	.|1.97;1.97;1.97;1.97	2.25|2.25	2.25|2.25	0.28309|0.28309	.|.	.|.	.|.	.|.	.|.	T|T	0.15912|0.15912	0.0383|0.0383	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.32040	.|0.353;0.044;0.302;0.302;0.302	.|B;B;B;B;B	.|0.37015	.|0.239;0.038;0.094;0.094;0.094	T|T	0.22382|0.22382	-1.0218|-1.0218	5|9	.|0.59425	.|D	.|0.04	.|.	8.1103|8.1103	0.30911|0.30911	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|381;425;457;458;457	.|E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269	.|.;.;.;.;GGT5_HUMAN	C|M	60|457;425;372;458;381	.|ENSP00000330080:R457M;ENSP00000263112:R425M;ENSP00000381340:R458M;ENSP00000392146:R381M	.|ENSP00000263112:R425M	G|R	-|-	1|2	0|0	GGT5|GGT5	22951346|22951346	0.005000|0.005000	0.15991|0.15991	0.012000|0.012000	0.15200|0.15200	0.009000|0.009000	0.06853|0.06853	0.275000|0.275000	0.18698|0.18698	1.564000|1.564000	0.49628|0.49628	0.555000|0.555000	0.69702|0.69702	GGT|AGG		0.617	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		36	47	1	0	3.76114e-14	1	4.1427e-14	36	47				
HMCN1	83872	broad.mit.edu	37	1	186014932	186014932	+	Silent	SNP	A	A	G			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr1:186014932A>G	ENST00000271588.4	+	41	6646	c.6417A>G	c.(6415-6417)aaA>aaG	p.K2139K	HMCN1_ENST00000367492.2_Silent_p.K2139K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2139	Ig-like C2-type 19.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTGGTTAAAAGACGGCCACC	0.393																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(6415-6417)aaA>aaG		hemicentin 1							132.0	122.0	126.0					1																	186014932		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186014932A>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6417A>G	1.37:g.186014932A>G						HMCN1_ENST00000367492.2_Silent_p.K2139K	p.K2139K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			41	6646	+			2139			Ig-like C2-type 19.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.6417A>G	CCDS30956.1																																																																																				0.393	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		4	52	0	0	0	1	0	4	52				
KLHDC3	116138	broad.mit.edu	37	6	42985952	42985952	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:42985952A>G	ENST00000326974.4	+	5	712	c.517A>G	c.(517-519)Aag>Gag	p.K173E	KLHDC3_ENST00000244670.8_Missense_Mutation_p.K39E|KLHDC3_ENST00000332245.8_Missense_Mutation_p.K114E	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	173					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TATCTGTACAAAGGTCTGCTC	0.448																																						ENST00000326974.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(517-519)Aag>Gag		kelch domain containing 3							141.0	122.0	129.0					6																	42985952		2203	4300	6503	SO:0001583	missense	116138				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding	g.chr6:42985952A>G	AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.517A>G	6.37:g.42985952A>G	ENSP00000313995:p.Lys173Glu					KLHDC3_ENST00000244670.8_Missense_Mutation_p.K39E|KLHDC3_ENST00000332245.8_Missense_Mutation_p.K114E	p.K173E	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		5	712	+			173					A8K2W9	Missense_Mutation	SNP	ENST00000326974.4	37	c.517A>G	CCDS4880.1	.	.	.	.	.	.	.	.	.	.	A	10.06	1.247246	0.22880	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000244670;ENST00000394096;ENST00000426116;ENST00000332245	T;T;T	0.19394	2.15;2.33;2.15	5.49	5.49	0.81192	Kelch-type beta propeller (1);	0.048451	0.85682	D	0.000000	T	0.16041	0.0386	L	0.35723	1.085	0.80722	D	1	B;B;P	0.49783	0.044;0.084;0.928	B;B;P	0.51657	0.04;0.066;0.676	T	0.02037	-1.1225	10	0.31617	T	0.26	.	14.1501	0.65378	1.0:0.0:0.0:0.0	.	114;39;173	E7ERR0;F8W6A4;Q9BQ90	.;.;KLDC3_HUMAN	E	173;173;39;173;146;114	ENSP00000313995:K173E;ENSP00000244670:K39E;ENSP00000331562:K114E	ENSP00000244670:K39E	K	+	1	0	KLHDC3	43093930	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	6.450000	0.73477	2.087000	0.62958	0.459000	0.35465	AAG		0.448	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1	NM_057161		18	104	0	0	0	1	0	18	104				
PTCHD1	139411	broad.mit.edu	37	X	23410783	23410783	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:23410783T>C	ENST00000379361.4	+	3	2008	c.1148T>C	c.(1147-1149)cTg>cCg	p.L383P		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	383	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GCCATGTACCTGGTCACCTTT	0.473																																						ENST00000379361.4																			0				NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						c.(1147-1149)cTg>cCg		patched domain containing 1							121.0	101.0	108.0					X																	23410783		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23410783T>C	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.1148T>C	X.37:g.23410783T>C	ENSP00000368666:p.Leu383Pro						p.L383P	NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN			3	2008	+			383			SSD.		B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.1148T>C	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	T	16.05	3.013060	0.54468	.	.	ENSG00000165186	ENST00000379361	D	0.91996	-2.95	5.32	5.32	0.75619	Sterol-sensing domain (1);	0.083348	0.50627	D	0.000107	D	0.92453	0.7604	L	0.29908	0.895	0.80722	D	1	P	0.44521	0.837	P	0.59115	0.852	D	0.92916	0.6351	10	0.52906	T	0.07	.	14.5355	0.67958	0.0:0.0:0.0:1.0	.	383	Q96NR3	PTHD1_HUMAN	P	383	ENSP00000368666:L383P	ENSP00000368666:L383P	L	+	2	0	PTCHD1	23320704	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.655000	0.83696	1.881000	0.54492	0.486000	0.48141	CTG		0.473	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		28	51	0	0	0	1	0	28	51				
NYX	60506	broad.mit.edu	37	X	41333727	41333727	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:41333727G>A	ENST00000342595.2	+	2	1477	c.1021G>A	c.(1021-1023)Gac>Aac	p.D341N	NYX_ENST00000378220.1_Missense_Mutation_p.D341N	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	341	LRRCT.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						GTGGTGCTGCGACTGCCGTCT	0.706																																						ENST00000342595.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						c.(1021-1023)Gac>Aac		nyctalopin							29.0	27.0	27.0					X																	41333727		2201	4297	6498	SO:0001583	missense	60506				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		g.chrX:41333727G>A	AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.1021G>A	X.37:g.41333727G>A	ENSP00000340328:p.Asp341Asn					NYX_ENST00000378220.1_Missense_Mutation_p.D341N	p.D341N	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN			2	1477	+			341			LRRCT.		D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Missense_Mutation	SNP	ENST00000342595.2	37	c.1021G>A	CCDS14256.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685465	0.88639	.	.	ENSG00000188937	ENST00000342595;ENST00000378220	T;T	0.80738	-1.41;-1.41	5.34	5.34	0.76211	Cysteine-rich flanking region, C-terminal (1);	0.104372	0.64402	D	0.000005	D	0.88511	0.6456	M	0.70275	2.135	0.43936	D	0.996593	D	0.89917	1.0	D	0.66602	0.945	D	0.88171	0.2864	10	0.42905	T	0.14	.	18.2076	0.89859	0.0:0.0:1.0:0.0	.	341	Q9GZU5	NYX_HUMAN	N	341	ENSP00000340328:D341N;ENSP00000367465:D341N	ENSP00000340328:D341N	D	+	1	0	NYX	41218671	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	7.494000	0.81503	2.238000	0.73509	0.600000	0.82982	GAC		0.706	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056256.1	NM_022567		10	17	0	0	0	1	0	10	17				
OR6S1	341799	broad.mit.edu	37	14	21109290	21109290	+	Silent	SNP	C	C	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr14:21109290C>A	ENST00000320704.3	-	1	560	c.561G>T	c.(559-561)ctG>ctT	p.L187L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CCAGGCGGAGCAGTGGGCCAC	0.567																																						ENST00000320704.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(559-561)ctG>ctT		olfactory receptor, family 6, subfamily S, member 1							67.0	66.0	66.0					14																	21109290		2203	4300	6503	SO:0001819	synonymous_variant	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109290C>A	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.561G>T	14.37:g.21109290C>A							p.L187L	NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	560	-	all_cancers(95;0.00304)		187					Q6IFJ9	Silent	SNP	ENST00000320704.3	37	c.561G>T	CCDS32038.1																																																																																				0.567	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			21	28	1	0	3.62473e-10	1	3.93542e-10	21	28				
TP53	7157	broad.mit.edu	37	17	7578460	7578460	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:7578460A>T	ENST00000269305.4	-	5	659	c.470T>A	c.(469-471)gTc>gAc	p.V157D	TP53_ENST00000413465.2_Missense_Mutation_p.V157D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.V157D|TP53_ENST00000455263.2_Missense_Mutation_p.V157D|TP53_ENST00000445888.2_Missense_Mutation_p.V157D|TP53_ENST00000420246.2_Missense_Mutation_p.V157D	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157D(8)|p.0?(8)|p.V157G(7)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CATGGCGCGGACGCGGGTGCC	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		53	Substitution - Missense(16)|Deletion - In frame(14)|Deletion - Frameshift(14)|Whole gene deletion(8)|Complex - frameshift(1)	p.V157D(8)|p.0?(8)|p.V157G(7)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)	lung(8)|stomach(6)|oesophagus(6)|breast(5)|ovary(5)|upper_aerodigestive_tract(4)|central_nervous_system(4)|bone(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|pancreas(2)|biliary_tract(1)|prostate(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(469-471)gTc>gAc	Other conserved DNA damage response genes	tumor protein p53							51.0	52.0	51.0					17																	7578460		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578460A>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.470T>A	17.37:g.7578460A>T	ENSP00000269305:p.Val157Asp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.V157D|TP53_ENST00000455263.2_Missense_Mutation_p.V157D|TP53_ENST00000413465.2_Missense_Mutation_p.V157D|TP53_ENST00000269305.4_Missense_Mutation_p.V157D|TP53_ENST00000359597.4_Missense_Mutation_p.V157D	p.V157D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	602	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	157		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.470T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	17.80	3.478345	0.63849	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99826	-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98;-6.98	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99816	0.9919	M	0.86420	2.815	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.994;0.98;0.983;0.996;0.998;0.999	D	0.96765	0.9564	10	0.87932	D	0	-16.7152	13.8032	0.63214	1.0:0.0:0.0:0.0	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	D	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157D;ENSP00000352610:V157D;ENSP00000269305:V157D;ENSP00000398846:V157D;ENSP00000391127:V157D;ENSP00000391478:V157D;ENSP00000425104:V25D;ENSP00000423862:V64D;ENSP00000424104:V157D	ENSP00000269305:V157D	V	-	2	0	TP53	7519185	1.000000	0.71417	0.032000	0.17829	0.165000	0.22458	9.287000	0.95975	2.208000	0.71279	0.460000	0.39030	GTC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		49	11	0	0	0	1	0	49	11				
MTSS1	9788	broad.mit.edu	37	8	125597328	125597328	+	Splice_Site	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr8:125597328C>T	ENST00000518547.1	-	6	933	c.460G>A	c.(460-462)Ggg>Agg	p.G154R	MTSS1_ENST00000378017.3_Splice_Site_p.G154R|MTSS1_ENST00000325064.5_Splice_Site_p.V154M|MTSS1_ENST00000354184.4_5'UTR	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	154	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TAGGAGTTACCTTTTTTTGCT	0.373																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.e6+1		metastasis suppressor 1							264.0	240.0	248.0					8																	125597328		2203	4300	6503	SO:0001630	splice_region_variant	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125597328C>T	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.460+1G>A	8.37:g.125597328C>T						MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Splice_Site_p.V154_splice|MTSS1_ENST00000378017.3_Splice_Site_p.G154_splice	p.G154_splice	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		6	933	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		154			IMD.		J3KNK6|Q8TCA2|Q96RX2	Splice_Site	SNP	ENST00000518547.1	37	c.460_splice	CCDS6353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.485230|4.485230	0.84854|0.84854	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000378017;ENST00000518547|ENST00000325064	T;T|T	0.41065|0.32023	1.01;1.09|1.47	5.21|5.21	4.32|4.32	0.51571|0.51571	IRSp53/MIM homology domain (IMD) (3);|.	0.100221|.	0.64402|.	D|.	0.000002|.	T|T	0.49525|0.49525	0.1562|0.1562	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.97110|.	1.0;0.983|.	T|T	0.50004|0.50004	-0.8878|-0.8878	9|6	.|.	.|.	.|.	-10.5082|-10.5082	14.7662|14.7662	0.69640|0.69640	0.1459:0.8541:0.0:0.0|0.1459:0.8541:0.0:0.0	.|.	154;154|.	O43312;O43312-4|.	MTSS1_HUMAN;.|.	R|M	154|154	ENSP00000367256:G154R;ENSP00000429064:G154R|ENSP00000322804:V154M	.|.	G|V	-|-	1|1	0|0	MTSS1|MTSS1	125666509|125666509	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.061000|7.061000	0.76699|0.76699	1.184000|1.184000	0.42957|0.42957	0.555000|0.555000	0.69702|0.69702	GGG|GTG		0.373	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751	Missense_Mutation	52	90	0	0	0	1	0	52	90				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070591	32070591	+	RNA	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr16:32070591G>A	ENST00000566806.1	-	0	499																											GAAGCCTGGGGCCTCAGTGAA	0.597																																						ENST00000566806.1																			0																																																			0							g.chr16:32070591G>A																													16.37:g.32070591G>A														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.597	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			14	27	0	0	0	1	0	14	27				
RP11-423O2.5	0	broad.mit.edu	37	1	142803480	142803480	+	lincRNA	SNP	T	T	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr1:142803480T>C	ENST00000423385.1	-	0	1485																											GATTTTAATATTCTGTACATT	0.343																																						ENST00000423385.1																			0																																																			0							g.chr1:142803480T>C																													1.37:g.142803480T>C														0	1485	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.343	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			3	55	0	0	0	1	0	3	55				
PLXNA1	5361	broad.mit.edu	37	3	126748762	126748762	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr3:126748762G>A	ENST00000393409.2	+	27	4916	c.4916G>A	c.(4915-4917)cGc>cAc	p.R1639H	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R1616H	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1639					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGCGCTCGCGCACGCCCATG	0.716																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(4846-4848)cGc>cAc		plexin A1							56.0	54.0	54.0					3																	126748762		2203	4299	6502	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126748762G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4916G>A	3.37:g.126748762G>A	ENSP00000377061:p.Arg1639His					PLXNA1_ENST00000393409.2_Missense_Mutation_p.R1639H	p.R1616H			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	27	4916	+			1639						Missense_Mutation	SNP	ENST00000393409.2	37	c.4847G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886801	0.72410	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.12465	2.68;2.68	3.71	3.71	0.42584	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.64402	D	0.000007	T	0.35364	0.0929	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.985;1.0	T	0.19353	-1.0308	10	0.52906	T	0.07	.	16.0183	0.80460	0.0:0.0:1.0:0.0	.	253;1639	Q6ZTY7;Q9UIW2	.;PLXA1_HUMAN	H	1639;1616	ENSP00000377061:R1639H;ENSP00000251772:R1616H	ENSP00000251772:R1616H	R	+	2	0	PLXNA1	128231452	1.000000	0.71417	1.000000	0.80357	0.202000	0.24057	9.572000	0.98179	2.069000	0.61940	0.313000	0.20887	CGC		0.716	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		3	44	0	0	0	1	0	3	44				
OR2L3	391192	broad.mit.edu	37	1	248224013	248224013	+	Silent	SNP	T	T	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr1:248224013T>C	ENST00000359959.3	+	1	30	c.30T>C	c.(28-30)gaT>gaC	p.D10D	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CATCAACTGATTTCATCTTAT	0.388																																						ENST00000359959.3																			0				cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41						c.(28-30)gaT>gaC		olfactory receptor, family 2, subfamily L, member 3							207.0	204.0	205.0					1																	248224013		2203	4300	6503	SO:0001819	synonymous_variant	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224013T>C	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.30T>C	1.37:g.248224013T>C						OR2L13_ENST00000366478.2_Intron	p.D10D	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	30	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		10					B9EH44	Silent	SNP	ENST00000359959.3	37	c.30T>C	CCDS31104.1																																																																																				0.388	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		16	204	0	0	0	1	0	16	204				
OR1A2	26189	broad.mit.edu	37	17	3101424	3101424	+	Silent	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:3101424C>T	ENST00000381951.1	+	1	612	c.612C>T	c.(610-612)ggC>ggT	p.G204G		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	204					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TAGGGGTCGGCGTTTTCTCTT	0.428																																						ENST00000381951.1																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						c.(610-612)ggC>ggT		olfactory receptor, family 1, subfamily A, member 2							246.0	201.0	216.0					17																	3101424		2203	4300	6503	SO:0001819	synonymous_variant	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3101424C>T	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.612C>T	17.37:g.3101424C>T							p.G204G	NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN			1	612	+			204					Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Silent	SNP	ENST00000381951.1	37	c.612C>T	CCDS11021.1																																																																																				0.428	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		154	41	0	0	0	1	0	154	41				
TTN	7273	broad.mit.edu	37	2	179590358	179590358	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:179590358G>C	ENST00000591111.1	-	69	19846	c.19622C>G	c.(19621-19623)tCc>tGc	p.S6541C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S5614C|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S6858C|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12143	Ig-like 47.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCAGTTTGGAGACAAATCT	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(20572-20574)tCc>tGc		titin							77.0	73.0	74.0					2																	179590358		1869	4099	5968	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179590358G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19622C>G	2.37:g.179590358G>C	ENSP00000465570:p.Ser6541Cys					TTN_ENST00000342992.6_Missense_Mutation_p.S5614C|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S6541C	p.S6858C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		71	20797	-			6541			Ig-like 50.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.20573C>G		.	.	.	.	.	.	.	.	.	.	G	12.58	1.979444	0.34942	.	.	ENSG00000155657	ENST00000342992	T	0.68181	-0.31	5.86	5.86	0.93980	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67239	0.2872	L	0.43152	1.355	0.80722	D	1	P	0.45126	0.851	P	0.47626	0.552	T	0.69676	-0.5081	9	0.87932	D	0	.	15.3004	0.73945	0.0:0.0:0.8601:0.1399	.	6541	Q8WZ42	TITIN_HUMAN	C	5614	ENSP00000343764:S5614C	ENSP00000343764:S5614C	S	-	2	0	TTN	179298603	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.608000	0.61141	2.937000	0.99478	0.650000	0.86243	TCC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	35	0	0	0	1	0	18	35				
HIST1H2BM	8342	broad.mit.edu	37	6	27782965	27782965	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:27782965G>C	ENST00000359465.4	+	1	144	c.144G>C	c.(142-144)caG>caC	p.Q48H	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	48					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						TGCTGAAGCAGGTCCACCCCG	0.537																																						ENST00000359465.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						c.(142-144)caG>caC		histone cluster 1, H2bm							201.0	189.0	193.0					6																	27782965		2203	4300	6503	SO:0001583	missense	8342				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27782965G>C	Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"""Histones / Replication-dependent"""	4750	protein-coding gene	gene with protein product		602802	"""H2B histone family, member E"", ""histone 1, H2bm"""	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.144G>C	6.37:g.27782965G>C	ENSP00000352442:p.Gln48His						p.Q48H	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN			1	144	+			48					Q6NWQ3	Missense_Mutation	SNP	ENST00000359465.4	37	c.144G>C	CCDS4629.1	.	.	.	.	.	.	.	.	.	.	.	6.049	0.377388	0.11466	.	.	ENSG00000196374	ENST00000359465	T	0.29397	1.57	4.29	0.268	0.15626	Histone-fold (2);Histone core (1);	0.000000	0.56097	U	0.000033	T	0.46639	0.1403	H	0.96015	3.755	0.51233	D	0.999918	D	0.54047	0.964	P	0.58660	0.843	T	0.53229	-0.8468	10	0.87932	D	0	.	7.8524	0.29462	0.2254:0.1206:0.654:0.0	.	48	Q99879	H2B1M_HUMAN	H	48	ENSP00000352442:Q48H	ENSP00000352442:Q48H	Q	+	3	2	HIST1H2BM	27890944	1.000000	0.71417	0.977000	0.42913	0.005000	0.04900	1.993000	0.40747	-0.312000	0.08741	-2.589000	0.00165	CAG		0.537	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521		18	147	0	0	0	1	0	18	147				
CEP164	22897	broad.mit.edu	37	11	117282521	117282521	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:117282521C>T	ENST00000278935.3	+	32	4321	c.4174C>T	c.(4174-4176)Cgg>Tgg	p.R1392W	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1392					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGAGCAGCTCCGGCTCCTACA	0.597																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(4174-4176)Cgg>Tgg		centrosomal protein 164kDa							82.0	79.0	80.0					11																	117282521		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117282521C>T	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.4174C>T	11.37:g.117282521C>T	ENSP00000278935:p.Arg1392Trp					CEP164_ENST00000533706.1_3'UTR	p.R1392W	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	32	4321	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1392					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.4174C>T	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531643	0.85706	.	.	ENSG00000110274	ENST00000278935	T	0.31769	1.48	5.27	5.27	0.74061	.	0.122200	0.37857	N	0.001905	T	0.55924	0.1951	M	0.71581	2.175	0.42732	D	0.993714	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.60224	-0.7305	10	0.87932	D	0	-8.7238	16.6925	0.85325	0.0:1.0:0.0:0.0	.	1392;1387	Q9UPV0;Q9UPV0-2	CE164_HUMAN;.	W	1392	ENSP00000278935:R1392W	ENSP00000278935:R1392W	R	+	1	2	CEP164	116787731	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	2.288000	0.43514	2.471000	0.83476	0.655000	0.94253	CGG		0.597	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		7	133	0	0	0	1	0	7	133				
DENND6A	201627	broad.mit.edu	37	3	57678580	57678580	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr3:57678580C>T	ENST00000311128.5	-	1	236	c.166G>A	c.(166-168)Gac>Aac	p.D56N	RP11-755B10.3_ENST00000465933.1_lincRNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	56					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GAGAAGCTGTCCCAGCGCAGC	0.746																																						ENST00000311128.5																			0											c.(166-168)Gac>Aac		DENN/MADD domain containing 6A							23.0	23.0	23.0					3																	57678580		2182	4274	6456	SO:0001583	missense	201627							g.chr3:57678580C>T	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.166G>A	3.37:g.57678580C>T	ENSP00000311401:p.Asp56Asn						p.D56N	NM_152678.2	NP_689891.1					1	236	-								Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	c.166G>A	CCDS33773.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833191	0.91036	.	.	ENSG00000174839	ENST00000311128	.	.	.	4.51	3.63	0.41609	.	0.054165	0.64402	D	0.000001	T	0.54679	0.1873	N	0.24115	0.695	0.58432	D	0.999996	D	0.63880	0.993	D	0.72338	0.977	T	0.48747	-0.9008	9	0.26408	T	0.33	-0.5388	11.5762	0.50862	0.0:0.909:0.0:0.091	.	56	Q8IWF6	F116A_HUMAN	N	56	.	ENSP00000311401:D56N	D	-	1	0	FAM116A	57653620	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.819000	0.62664	1.020000	0.39573	0.591000	0.81541	GAC		0.746	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678		4	8	0	0	0	1	0	4	8				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	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_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T	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		10	81	0	0	0	1	0	10	81				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			0							g.chr3:197348646T>C																													3.37:g.197348646T>C								NR_003266.2						0	613	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.532	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	114	0	0	0	1	0	4	114				
SIGLEC8	27181	broad.mit.edu	37	19	51961277	51961277	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:51961277T>C	ENST00000321424.3	-	1	431	c.365A>G	c.(364-366)tAt>tGt	p.Y122C	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.Y122C|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.Y122C	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	122	Ig-like V-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCGAAAGAAATATGACCCCTT	0.498																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(364-366)tAt>tGt		sialic acid binding Ig-like lectin 8							137.0	135.0	136.0					19																	51961277		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51961277T>C	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.365A>G	19.37:g.51961277T>C	ENSP00000321077:p.Tyr122Cys					SIGLEC8_ENST00000340550.5_Missense_Mutation_p.Y122C|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.Y122C	p.Y122C	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	431	-		all_neural(266;0.0199)	122			Ig-like V-type.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.365A>G	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	11.97	1.797719	0.31777	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	D;D;D	0.94497	-3.44;-3.44;-3.44	2.56	1.44	0.22558	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.221905	0.22873	N	0.054619	D	0.97263	0.9105	H	0.95043	3.615	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.967;0.999;0.998	D	0.91247	0.5026	10	0.87932	D	0	.	4.5807	0.12257	0.2872:0.0:0.0:0.7128	.	122;122;122	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	C	122	ENSP00000389142:Y122C;ENSP00000321077:Y122C;ENSP00000339448:Y122C	ENSP00000321077:Y122C	Y	-	2	0	SIGLEC8	56653089	0.167000	0.22975	0.005000	0.12908	0.142000	0.21351	1.820000	0.39032	0.176000	0.19873	0.327000	0.21459	TAT		0.498	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		55	27	0	0	0	1	0	55	27				
MAGEA12	4111	broad.mit.edu	37	X	151896315	151896315	+	IGR	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:151896315C>T	ENST00000357916.4	-	0	1664				CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12											breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTCCTTGACGGGTCCCTGT	0.537																																						ENST00000361201.4																			0				endometrium(2)|kidney(2)|lung(1)	5																																												SO:0001628	intergenic_variant	0							g.chrX:151896315C>T		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650		X.37:g.151896315C>T								NR_073432.1						0	415	-								Q9NSD3	RNA	SNP	ENST00000357916.4	37		CCDS14710.1																																																																																				0.537	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		38	46	0	0	0	1	0	38	46				
MYH4	4622	broad.mit.edu	37	17	10352347	10352347	+	Missense_Mutation	SNP	C	C	T	rs369407729		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:10352347C>T	ENST00000255381.2	-	31	4309	c.4199G>A	c.(4198-4200)cGt>cAt	p.R1400H	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1400					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATCCTGCAGACGCTGGGCTAG	0.463																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(4198-4200)cGt>cAt		myosin, heavy chain 4, skeletal muscle		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	56.0	52.0	54.0		4199	4.3	1.0	17		54	0,8600		0,0,4300	no	missense	MYH4	NM_017533.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	1400/1940	10352347	1,13005	2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10352347C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4199G>A	17.37:g.10352347C>T	ENSP00000255381:p.Arg1400His					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R1400H	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			31	4309	-			1400						Missense_Mutation	SNP	ENST00000255381.2	37	c.4199G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242762	0.58995	2.27E-4	0.0	ENSG00000141048	ENST00000255381	T	0.79940	-1.32	5.25	4.28	0.50868	Myosin tail (1);	0.000000	0.38272	U	0.001755	D	0.84406	0.5465	M	0.87758	2.905	0.52501	D	0.999957	P	0.38642	0.641	B	0.41088	0.347	D	0.86805	0.1994	10	0.72032	D	0.01	.	14.4316	0.67254	0.0:0.9285:0.0:0.0715	.	1400	Q9Y623	MYH4_HUMAN	H	1400	ENSP00000255381:R1400H	ENSP00000255381:R1400H	R	-	2	0	MYH4	10293072	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.948000	0.63590	1.366000	0.46076	-0.133000	0.14855	CGT		0.463	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		8	16	0	0	0	1	0	8	16				
ZNF761	388561	broad.mit.edu	37	19	53958524	53958524	+	RNA	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:53958524C>T	ENST00000454407.1	+	0	1216							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TAATCAGAAGCGAAACCTAGC	0.408																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							151.0	142.0	145.0					19																	53958524		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958524C>T	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958524C>T										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	1216	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.408	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		50	31	0	0	0	1	0	50	31				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	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_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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			24	36	0	0	0	1	0	24	36				
OR6B2	389090	broad.mit.edu	37	2	240969527	240969527	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:240969527A>G	ENST00000402971.2	-	1	379	c.320T>C	c.(319-321)cTg>cCg	p.L107P		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GGTGCACACCAGGGAGCTGAA	0.617																																						ENST00000402971.2																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15						c.(319-321)cTg>cCg		olfactory receptor, family 6, subfamily B, member 2							23.0	23.0	23.0					2																	240969527		1836	4052	5888	SO:0001583	missense	389090				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240969527A>G		CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.320T>C	2.37:g.240969527A>G	ENSP00000384563:p.Leu107Pro						p.L107P	NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)	1	379	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	107					B2RPR3|Q8NGW0	Missense_Mutation	SNP	ENST00000402971.2	37	c.320T>C	CCDS46559.1	.	.	.	.	.	.	.	.	.	.	a	11.77	1.738400	0.30774	.	.	ENSG00000182083	ENST00000402971	T	0.03663	3.85	4.36	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36591	N	0.002512	T	0.21267	0.0512	M	0.93283	3.4	0.49299	D	0.999772	D	0.89917	1.0	D	0.87578	0.998	T	0.00790	-1.1565	10	0.87932	D	0	.	6.645	0.22931	0.8938:0.0:0.1062:0.0	.	107	Q6IFH4	OR6B2_HUMAN	P	107	ENSP00000384563:L107P	ENSP00000384563:L107P	L	-	2	0	OR6B2	240618200	0.029000	0.19370	0.767000	0.31495	0.106000	0.19336	2.594000	0.46189	1.938000	0.56188	0.482000	0.46254	CTG		0.617	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		11	17	0	0	0	1	0	11	17				
ABHD13	84945	broad.mit.edu	37	13	108882243	108882243	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr13:108882243C>T	ENST00000375898.3	+	2	978	c.677C>T	c.(676-678)gCc>gTc	p.A226V		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	226						integral component of membrane (GO:0016021)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CCACATATGGCCAGCACTTTA	0.383																																					Pancreas(22;506 789 38166 45896 51596)	ENST00000375898.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(676-678)gCc>gTc		abhydrolase domain containing 13							120.0	119.0	119.0					13																	108882243		2203	4300	6503	SO:0001583	missense	84945					integral to membrane	hydrolase activity	g.chr13:108882243C>T	AK027812	CCDS32007.1	13q33.2	2007-04-03	2006-03-10	2006-03-10	ENSG00000139826	ENSG00000139826		"""Abhydrolase domain containing"""	20293	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 6"""	C13orf6			Standard	NM_032859		Approved	bA153I24.2, FLJ14906, BEM46L1	uc001vqq.3	Q7L211	OTTHUMG00000017330	ENST00000375898.3:c.677C>T	13.37:g.108882243C>T	ENSP00000365063:p.Ala226Val						p.A226V	NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN			2	978	+	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		226					B3KWE7|Q8NBW1|Q96JX9	Missense_Mutation	SNP	ENST00000375898.3	37	c.677C>T	CCDS32007.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310540	0.40895	.	.	ENSG00000139826	ENST00000375898	T	0.44482	0.92	6.02	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.39572	0.1083	N	0.25426	0.745	0.80722	D	1	P	0.40032	0.699	P	0.47786	0.557	T	0.04268	-1.0964	10	0.22706	T	0.39	-13.9553	14.808	0.69971	0.0:0.9302:0.0:0.0698	.	226	Q7L211	ABHDD_HUMAN	V	226	ENSP00000365063:A226V	ENSP00000365063:A226V	A	+	2	0	ABHD13	107680244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.995000	0.70631	2.857000	0.98124	0.650000	0.86243	GCC		0.383	ABHD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045743.1	NM_032859		17	112	0	0	0	1	0	17	112				
OR8H3	390152	broad.mit.edu	37	11	55890587	55890587	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:55890587G>T	ENST00000313472.3	+	1	739	c.739G>T	c.(739-741)Gga>Tga	p.G247*		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TCATCTCTTGGGAGTCACCAT	0.383																																						ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(739-741)Gga>Tga		olfactory receptor, family 8, subfamily H, member 3							116.0	111.0	113.0					11																	55890587		2201	4296	6497	SO:0001587	stop_gained	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890587G>T	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.739G>T	11.37:g.55890587G>T	ENSP00000323928:p.Gly247*						p.G247*	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	739	+	Esophageal squamous(21;0.00693)		247					Q6IFB7	Nonsense_Mutation	SNP	ENST00000313472.3	37	c.739G>T	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	G	7.048	0.563860	0.13498	.	.	ENSG00000181761	ENST00000313472	.	.	.	3.62	2.68	0.31781	.	0.261336	0.27668	N	0.018351	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.3412	0.26637	0.0923:0.0:0.7398:0.1679	.	.	.	.	X	247	.	ENSP00000323928:G247X	G	+	1	0	OR8H3	55647163	0.001000	0.12720	0.605000	0.28930	0.201000	0.24016	1.018000	0.30002	0.612000	0.30071	0.173000	0.16961	GGA		0.383	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		29	38	1	0	7.41945e-09	1	7.94195e-09	29	38				
OR4K2	390431	broad.mit.edu	37	14	20345046	20345046	+	Missense_Mutation	SNP	C	C	T	rs371172454		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr14:20345046C>T	ENST00000298642.2	+	1	656	c.620C>T	c.(619-621)gCg>gTg	p.A207V		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A207V(1)|p.A207E(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCATAATTGCGTTGTCCTGT	0.398																																						ENST00000298642.2																			2	Substitution - Missense(2)	p.A207V(1)|p.A207E(1)	lung(1)|endometrium(1)	NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(619-621)gCg>gTg		olfactory receptor, family 4, subfamily K, member 2		C	VAL/ALA	0,4406		0,0,2203	312.0	312.0	312.0		620	4.1	0.9	14		312	1,8599		0,1,4299	no	missense	OR4K2	NM_001005501.1	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	207/315	20345046	1,13005	2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345046C>T		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.620C>T	14.37:g.20345046C>T	ENSP00000298642:p.Ala207Val						p.A207V	NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	656	+	all_cancers(95;0.00108)		207					B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.620C>T	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	13.30	2.197465	0.38806	0.0	1.16E-4	ENSG00000165762	ENST00000298642	T	0.35605	1.3	5.0	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.139136	0.32884	N	0.005535	T	0.38374	0.1038	N	0.25060	0.705	0.28288	N	0.923682	D	0.64830	0.994	P	0.62491	0.903	T	0.15435	-1.0437	10	0.59425	D	0.04	.	7.7058	0.28648	0.0:0.8129:0.0:0.1871	.	207	Q8NGD2	OR4K2_HUMAN	V	207	ENSP00000298642:A207V	ENSP00000298642:A207V	A	+	2	0	OR4K2	19414886	0.000000	0.05858	0.866000	0.34008	0.186000	0.23388	-0.259000	0.08721	1.331000	0.45412	0.467000	0.42956	GCG		0.398	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			18	202	0	0	0	1	0	18	202				
SARS	6301	broad.mit.edu	37	1	109773620	109773620	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr1:109773620G>A	ENST00000234677.2	+	5	643	c.568G>A	c.(568-570)Ggg>Agg	p.G190R	SARS_ENST00000369923.4_Missense_Mutation_p.G190R	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	190					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CGTGGTGGCTGGGAGTCGAGG	0.418																																						ENST00000369923.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17						c.(568-570)Ggg>Agg		seryl-tRNA synthetase	L-Serine(DB00133)						101.0	104.0	103.0					1																	109773620		2203	4300	6503	SO:0001583	missense	6301				seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity	g.chr1:109773620G>A	BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.568G>A	1.37:g.109773620G>A	ENSP00000234677:p.Gly190Arg					SARS_ENST00000234677.2_Missense_Mutation_p.G190R	p.G190R			P49591	SYSC_HUMAN		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	5	579	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	190					B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	ENST00000234677.2	37	c.568G>A	CCDS795.1	.	.	.	.	.	.	.	.	.	.	g	34	5.307899	0.95629	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	D;D	0.82433	-1.61;-1.61	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.94128	0.8117	H	0.96889	3.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95798	0.8830	10	0.87932	D	0	-24.0726	18.7594	0.91845	0.0:0.0:1.0:0.0	.	190;190;190	Q0VGA5;Q5T5C7;P49591	.;.;SYSC_HUMAN	R	190	ENSP00000234677:G190R;ENSP00000358939:G190R	ENSP00000234677:G190R	G	+	1	0	SARS	109575143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.796000	0.99103	2.522000	0.85027	0.650000	0.86243	GGG		0.418	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2	NM_006513		36	33	0	0	0	1	0	36	33				
TRPM1	4308	broad.mit.edu	37	15	31294434	31294434	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr15:31294434G>A	ENST00000256552.6	-	28	4616	c.4469C>T	c.(4468-4470)aCg>aTg	p.T1490M	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.T1468M|TRPM1_ENST00000542188.1_Missense_Mutation_p.T1507M	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTGCCATTCCGTCGTCAATTG	0.488																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(4519-4521)aCg>aTg		transient receptor potential cation channel, subfamily M, member 1							211.0	190.0	197.0					15																	31294434		1974	4174	6148	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31294434G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4469C>T	15.37:g.31294434G>A	ENSP00000256552:p.Thr1490Met					TRPM1_ENST00000256552.6_Missense_Mutation_p.T1490M|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.T1468M	p.T1507M	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	27	4833	-		all_lung(180;1.92e-11)	1468						Missense_Mutation	SNP	ENST00000256552.6	37	c.4520C>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	8.981	0.975365	0.18736	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.53857	0.62;0.6;0.63	4.79	4.79	0.61399	.	1.061350	0.07299	N	0.873790	T	0.61123	0.2322	L	0.27053	0.805	0.09310	N	0.999999	D;D	0.63880	0.993;0.991	P;P	0.59288	0.855;0.776	T	0.59873	-0.7372	10	0.72032	D	0.01	-2.7624	16.043	0.80698	0.0:0.0:1.0:0.0	.	1462;1468	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	M	1468;1507;1490;1468	ENSP00000380897:T1468M;ENSP00000437849:T1507M;ENSP00000256552:T1490M	ENSP00000256552:T1490M	T	-	2	0	TRPM1	29081726	0.056000	0.20664	0.006000	0.13384	0.013000	0.08279	2.491000	0.45303	2.194000	0.70268	0.563000	0.77884	ACG		0.488	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		13	136	0	0	0	1	0	13	136				
HSH2D	84941	broad.mit.edu	37	19	16268157	16268157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:16268157G>A	ENST00000253680.6	+	8	1143	c.612G>A	c.(610-612)tgG>tgA	p.W204*	HSH2D_ENST00000593154.2_Nonsense_Mutation_p.W204*|HSH2D_ENST00000588246.1_Nonsense_Mutation_p.W204*|HSH2D_ENST00000397372.4_Nonsense_Mutation_p.W115*			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	204					negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						AGAAACTCTGGAGGAGCCTCA	0.562																																						ENST00000593154.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						c.(610-612)tgG>tgA		hematopoietic SH2 domain containing							45.0	53.0	50.0					19																	16268157		1852	4089	5941	SO:0001587	stop_gained	84941					cytoplasm|nucleus		g.chr19:16268157G>A	AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"""SH2 domain containing"""	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.612G>A	19.37:g.16268157G>A	ENSP00000253680:p.Trp204*					HSH2D_ENST00000588246.1_Nonsense_Mutation_p.W204*|HSH2D_ENST00000253680.6_Nonsense_Mutation_p.W204*|HSH2D_ENST00000397372.4_Nonsense_Mutation_p.W115*	p.W204*	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN			8	1143	+			204					B5ME72|Q6ZNG7	Nonsense_Mutation	SNP	ENST00000253680.6	37	c.612G>A		.	.	.	.	.	.	.	.	.	.	G	39	7.859928	0.98528	.	.	ENSG00000196684	ENST00000397372;ENST00000253680	.	.	.	3.81	3.81	0.43845	.	0.233188	0.29908	N	0.010887	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	11.493	0.50391	0.0:0.0:1.0:0.0	.	.	.	.	X	115;204	.	ENSP00000253680:W204X	W	+	3	0	HSH2D	16129157	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	3.689000	0.54706	2.412000	0.81896	0.561000	0.74099	TGG		0.562	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032855		16	32	0	0	0	1	0	16	32				
FAM129C	199786	broad.mit.edu	37	19	17653073	17653073	+	Silent	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:17653073C>T	ENST00000335393.4	+	11	1530	c.1392C>T	c.(1390-1392)ctC>ctT	p.L464L	FAM129C_ENST00000332386.5_Silent_p.L464L|FAM129C_ENST00000601861.1_Silent_p.L433L|FAM129C_ENST00000600871.1_Silent_p.L410L|FAM129C_ENST00000300971.2_Silent_p.L464L|FAM129C_ENST00000449408.2_Silent_p.L190L|FAM129C_ENST00000599164.1_Silent_p.L433L|FAM129C_ENST00000595684.1_Silent_p.L464L|FAM129C_ENST00000599124.1_Silent_p.L433L|FAM129C_ENST00000352727.3_Silent_p.L464L	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	464								p.L464L(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TGCAGAGCCTCGTGTTTGGGG	0.627																																						ENST00000335393.4																			2	Substitution - coding silent(2)	p.L464L(2)	lung(2)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						c.(1390-1392)ctC>ctT		family with sequence similarity 129, member C							108.0	108.0	108.0					19																	17653073		2203	4300	6503	SO:0001819	synonymous_variant	199786							g.chr19:17653073C>T	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.1392C>T	19.37:g.17653073C>T						FAM129C_ENST00000599164.1_Silent_p.L433L|FAM129C_ENST00000599124.1_Silent_p.L433L|FAM129C_ENST00000600871.1_Silent_p.L410L|FAM129C_ENST00000300971.2_Silent_p.L464L|FAM129C_ENST00000595684.1_Silent_p.L464L|FAM129C_ENST00000601861.1_Silent_p.L433L|FAM129C_ENST00000352727.3_Silent_p.L464L|FAM129C_ENST00000332386.5_Silent_p.L464L|FAM129C_ENST00000449408.2_Silent_p.L190L	p.L464L	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN			11	1530	+			464					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Silent	SNP	ENST00000335393.4	37	c.1392C>T	CCDS12362.1																																																																																				0.627	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		64	82	0	0	0	1	0	64	82				
ADSL	158	broad.mit.edu	37	22	40761013	40761013	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr22:40761013G>A	ENST00000216194.7	+	12	1377	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	ADSL_ENST00000454266.2_Missense_Mutation_p.D455N|ADSL_ENST00000342312.6_Intron	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	441					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CTCCCAGTTGGATCATTTACT	0.517																																					Colon(4;65 130 1097 1516)	ENST00000216194.7																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						c.(1321-1323)Gat>Aat		adenylosuccinate lyase							237.0	187.0	204.0					22																	40761013		2203	4300	6503	SO:0001583	missense	158				AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	g.chr22:40761013G>A	X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.1321G>A	22.37:g.40761013G>A	ENSP00000216194:p.Asp441Asn					ADSL_ENST00000342312.6_Intron|ADSL_ENST00000454266.2_Missense_Mutation_p.D455N	p.D441N	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN			12	1377	+			441					B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	c.1321G>A	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121684	0.56613	.	.	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028	D;D	0.96073	-3.9;-3.9	5.67	4.65	0.58169	Adenylosuccinate lyase C-terminal metazoa/fungi (1);L-Aspartase-like (1);	0.245141	0.47093	D	0.000246	D	0.94771	0.8312	M	0.72576	2.205	0.80722	D	1	B;B;B	0.15473	0.013;0.0;0.0	B;B;B	0.26693	0.072;0.012;0.012	D	0.92402	0.5930	10	0.35671	T	0.21	-10.8058	16.607	0.84832	0.0:0.1304:0.8696:0.0	.	455;441;441	E7ERF4;Q71UA4;P30566	.;.;PUR8_HUMAN	N	441;455;261	ENSP00000216194:D441N;ENSP00000390107:D455N	ENSP00000216194:D441N	D	+	1	0	ADSL	39090959	1.000000	0.71417	0.981000	0.43875	0.708000	0.40852	6.949000	0.75971	1.385000	0.46445	0.563000	0.77884	GAT		0.517	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		5	83	0	0	0	1	0	5	83				
LAGE3	8270	broad.mit.edu	37	X	153707094	153707094	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:153707094C>A	ENST00000357360.4	-	1	502	c.161G>T	c.(160-162)aGg>aTg	p.R54M	LAGE3_ENST00000407062.1_Missense_Mutation_p.R54M	NM_006014.4	NP_006005.2	Q14657	LAGE3_HUMAN	L antigen family, member 3	54					tRNA processing (GO:0008033)	nucleus (GO:0005634)				lung(2)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCGTGACCCCCTGGCCGCAGA	0.721																																						ENST00000357360.4																			0				lung(2)	2						c.(160-162)aGg>aTg		L antigen family, member 3							7.0	8.0	8.0					X																	153707094		2082	4084	6166	SO:0001583	missense	8270						protein binding	g.chrX:153707094C>A	X92896	CCDS14753.1	Xq28	2011-08-12			ENSG00000196976	ENSG00000196976			26058	protein-coding gene	gene with protein product	"""DNA segment on chromosome X (unique) 9879 expressed sequence"""	300060				8786131	Standard	NM_006014		Approved	ITBA2, CVG5, DXS9951E, DXS9879E, ESO3	uc004fln.1	Q14657	OTTHUMG00000033294	ENST00000357360.4:c.161G>T	X.37:g.153707094C>A	ENSP00000349923:p.Arg54Met					LAGE3_ENST00000407062.1_Missense_Mutation_p.R54M	p.R54M	NM_006014.3	NP_006005.2	Q14657	LAGE3_HUMAN			1	502	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		54					Q5HY39|Q8IZ78	Missense_Mutation	SNP	ENST00000357360.4	37	c.161G>T	CCDS14753.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917411	0.52546	.	.	ENSG00000196976	ENST00000407062;ENST00000357360	.	.	.	3.94	-2.37	0.06643	.	4.125040	0.01172	U	0.006881	T	0.34279	0.0892	L	0.55481	1.735	0.09310	N	1	P	0.52316	0.952	B	0.42692	0.395	T	0.38607	-0.9653	9	0.48119	T	0.1	1.7698	5.4708	0.16668	0.0:0.2744:0.4538:0.2718	.	54	Q14657	LAGE3_HUMAN	M	54	.	ENSP00000349923:R54M	R	-	2	0	LAGE3	153360288	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.191000	0.03055	-0.649000	0.05430	0.468000	0.43344	AGG		0.721	LAGE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081651.2	NM_006014		3	12	1	0	0.115264	1	0.116801	3	12				
KRT15	3866	broad.mit.edu	37	17	39673193	39673193	+	Missense_Mutation	SNP	C	C	T	rs200854917		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:39673193C>T	ENST00000254043.3	-	3	4190	c.605G>A	c.(604-606)cGc>cAc	p.R202H	KRT15_ENST00000393974.3_Missense_Mutation_p.R37H|KRT15_ENST00000393981.3_Missense_Mutation_p.R37H|KRT15_ENST00000393976.2_Missense_Mutation_p.R202H	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	202	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				AACGCCCTGGCGCAGGGCCAG	0.602																																						ENST00000254043.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(604-606)cGc>cAc		keratin 15							72.0	74.0	73.0					17																	39673193		2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39673193C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.605G>A	17.37:g.39673193C>T	ENSP00000254043:p.Arg202His					KRT15_ENST00000393974.3_Missense_Mutation_p.R37H|KRT15_ENST00000393976.2_Missense_Mutation_p.R202H|KRT15_ENST00000393981.3_Missense_Mutation_p.R37H	p.R202H	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			3	4190	-		Breast(137;0.000286)	202			Coil 1B.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.605G>A	CCDS11398.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015646	0.75161	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94	4.86	3.86	0.44501	Filament (1);	0.000000	0.50627	D	0.000119	D	0.95014	0.8386	M	0.84683	2.71	0.52501	D	0.999952	D;D;D	0.69078	0.973;0.982;0.997	P;P;P	0.57846	0.828;0.749;0.828	D	0.94978	0.8123	10	0.54805	T	0.06	.	13.6849	0.62511	0.0:0.9237:0.0:0.0763	.	37;202;202	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	H	202;37;202;37;37	ENSP00000254043:R202H;ENSP00000377544:R37H;ENSP00000377546:R202H;ENSP00000377550:R37H;ENSP00000409282:R37H	ENSP00000254043:R202H	R	-	2	0	KRT15	36926719	0.964000	0.33143	1.000000	0.80357	0.353000	0.29299	2.076000	0.41548	2.514000	0.84764	0.650000	0.86243	CGC		0.602	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		6	58	0	0	0	1	0	6	58				
PPFIBP2	8495	broad.mit.edu	37	11	7669667	7669667	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:7669667T>C	ENST00000299492.4	+	18	2084	c.1696T>C	c.(1696-1698)Tgg>Cgg	p.W566R	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.W454R|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.W423R|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.W408R	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	566	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGTGTGTGCATGGCTGGAGGA	0.547																																						ENST00000299492.4																			0				breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1696-1698)Tgg>Cgg		PTPRF interacting protein, binding protein 2 (liprin beta 2)							165.0	124.0	138.0					11																	7669667		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7669667T>C	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.1696T>C	11.37:g.7669667T>C	ENSP00000299492:p.Trp566Arg					PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.W423R|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.W454R|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.W408R	p.W566R	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	18	2084	+			566			SAM 1.		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.1696T>C	CCDS31419.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.451254	0.84209	.	.	ENSG00000166387	ENST00000299492;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.74	5.74	0.90152	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.64402	D	0.000001	D	0.82660	0.5085	H	0.95114	3.625	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.87696	0.2557	10	0.87932	D	0	-9.1173	13.9867	0.64339	0.0:0.0:0.0:1.0	.	454;454;489;408;423;566	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	R	566;408;489;454;423	ENSP00000299492:W566R;ENSP00000436498:W408R;ENSP00000435469:W454R;ENSP00000437321:W423R	ENSP00000299492:W566R	W	+	1	0	PPFIBP2	7626243	1.000000	0.71417	0.926000	0.36857	0.995000	0.86356	8.040000	0.89188	2.194000	0.70268	0.459000	0.35465	TGG		0.547	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		4	64	0	0	0	1	0	4	64				
CABIN1	23523	broad.mit.edu	37	22	24466846	24466846	+	Silent	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr22:24466846G>A	ENST00000398319.2	+	17	2713	c.2328G>A	c.(2326-2328)gaG>gaA	p.E776E	CABIN1_ENST00000405822.2_Silent_p.E726E|CABIN1_ENST00000263119.5_Silent_p.E776E	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	776					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACTCAGGTGAGGCTGCCGCCA	0.582																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2326-2328)gaG>gaA		calcineurin binding protein 1							102.0	90.0	94.0					22																	24466846		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24466846G>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2328G>A	22.37:g.24466846G>A						CABIN1_ENST00000263119.5_Silent_p.E776E|CABIN1_ENST00000405822.2_Silent_p.E726E	p.E776E	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			17	2713	+			776					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.2328G>A	CCDS13823.1																																																																																				0.582	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		3	31	0	0	0	1	0	3	31				
ACACB	32	broad.mit.edu	37	12	109675033	109675033	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr12:109675033C>T	ENST00000338432.7	+	34	4629	c.4510C>T	c.(4510-4512)Cgg>Tgg	p.R1504W	ACACB_ENST00000377848.3_Missense_Mutation_p.R1504W|ACACB_ENST00000377854.5_Missense_Mutation_p.R1434W|ACACB_ENST00000543201.1_Missense_Mutation_p.R170W			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1504					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGAACTTAACCGGATGCGTAA	0.542																																						ENST00000338432.7																			0				NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(4510-4512)Cgg>Tgg		acetyl-CoA carboxylase beta	Biotin(DB00121)						168.0	139.0	149.0					12																	109675033		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109675033C>T	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.4510C>T	12.37:g.109675033C>T	ENSP00000341044:p.Arg1504Trp					ACACB_ENST00000377854.5_Missense_Mutation_p.R1434W|ACACB_ENST00000543201.1_Missense_Mutation_p.R170W|ACACB_ENST00000377848.3_Missense_Mutation_p.R1504W	p.R1504W			O00763	ACACB_HUMAN			34	4629	+			1504					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.4510C>T	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528172	0.85706	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	4.75	4.75	0.60458	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.84320	0.5446	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88397	0.3012	10	0.87932	D	0	.	18.6363	0.91379	0.0:1.0:0.0:0.0	.	1504	O00763	ACACB_HUMAN	W	1504;1504;1434;735;170	ENSP00000341044:R1504W;ENSP00000367079:R1504W;ENSP00000367085:R1434W;ENSP00000444075:R170W	ENSP00000341044:R1504W	R	+	1	2	ACACB	108159416	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.831000	0.55776	2.586000	0.87340	0.555000	0.69702	CGG		0.542	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		31	62	0	0	0	1	0	31	62				
HIST1H2AC	8334	broad.mit.edu	37	6	26124846	26124846	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:26124846G>A	ENST00000602637.1	+	1	416	c.386G>A	c.(385-387)gGc>gAc	p.G129D	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.G129D|HIST1H2BC_ENST00000396984.1_5'Flank|HIST1H2BC_ENST00000314332.5_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	129						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						AAGGCCAAGGGCAAGTGATTT	0.542																																						ENST00000602637.1																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						c.(385-387)gGc>gAc		histone cluster 1, H2ac							66.0	66.0	66.0					6																	26124846		2203	4300	6503	SO:0001583	missense	8334				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26124846G>A	Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"""Histones / Replication-dependent"""	4733	protein-coding gene	gene with protein product		602794	"""H2A histone family, member L"", ""histone 1, H2ac"""	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.386G>A	6.37:g.26124846G>A	ENSP00000473534:p.Gly129Asp					HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.G129D	p.G129D			Q93077	H2A1C_HUMAN			1	416	+			129					B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	ENST00000602637.1	37	c.386G>A	CCDS4585.1	.	.	.	.	.	.	.	.	.	.	.	12.44	1.938235	0.34189	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	D;D	0.90732	-2.72;-2.72	5.5	5.5	0.81552	.	0.000000	0.43416	D	0.000578	T	0.76300	0.3968	N	0.24115	0.695	0.31434	N	0.672808	P	0.35077	0.483	B	0.27887	0.084	T	0.78843	-0.2044	10	0.62326	D	0.03	.	15.0806	0.72110	0.0:0.152:0.848:0.0	.	129	Q93077	H2A1C_HUMAN	D	129	ENSP00000367022:G129D;ENSP00000321389:G129D	ENSP00000321389:G129D	G	+	2	0	HIST1H2AC	26232825	0.996000	0.38824	0.999000	0.59377	0.753000	0.42808	1.504000	0.35726	2.750000	0.94351	0.467000	0.42956	GGC		0.542	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468023.1	NM_003512		17	38	0	0	0	1	0	17	38				
IL1RL1	9173	broad.mit.edu	37	2	102955415	102955415	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:102955415G>C	ENST00000233954.1	+	3	451	c.180G>C	c.(178-180)caG>caC	p.Q60H	IL1RL1_ENST00000404917.2_Intron|IL1RL1_ENST00000311734.2_Missense_Mutation_p.Q60H|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000409584.1_Missense_Mutation_p.Q60H|IL1RL1_ENST00000393393.3_Missense_Mutation_p.Q60H	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	60	Ig-like C2-type 1.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TTCCCACTCAGGAAAGAAATC	0.393																																						ENST00000311734.2																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(178-180)caG>caC		interleukin 1 receptor-like 1							197.0	200.0	199.0					2																	102955415		2203	4300	6503	SO:0001583	missense	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102955415G>C	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.180G>C	2.37:g.102955415G>C	ENSP00000233954:p.Gln60His					IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000233954.1_Missense_Mutation_p.Q60H|IL1RL1_ENST00000409584.1_Missense_Mutation_p.Q60H|IL1RL1_ENST00000393393.3_Missense_Mutation_p.Q60H|IL1RL1_ENST00000404917.2_Intron	p.Q60H			Q01638	ILRL1_HUMAN			3	519	+			60			Ig-like C2-type 1.		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	c.180G>C	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156745	0.38119	.	.	ENSG00000115602	ENST00000233954;ENST00000393393;ENST00000311734;ENST00000409584	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	6.03	1.82	0.25136	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.821045	0.11319	N	0.576208	T	0.80444	0.4624	L	0.60455	1.87	0.09310	N	0.999998	D;D	0.59357	0.985;0.973	P;P	0.60682	0.807;0.878	T	0.66106	-0.6006	10	0.48119	T	0.1	.	3.8211	0.08836	0.1851:0.0:0.4532:0.3617	.	60;60	Q01638-2;Q01638	.;ILRL1_HUMAN	H	60	ENSP00000233954:Q60H;ENSP00000377052:Q60H;ENSP00000310371:Q60H;ENSP00000386618:Q60H	ENSP00000233954:Q60H	Q	+	3	2	IL1RL1	102321847	0.000000	0.05858	0.083000	0.20561	0.272000	0.26649	-0.044000	0.12023	0.845000	0.35118	-0.182000	0.12963	CAG		0.393	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		50	118	0	0	0	1	0	50	118				
NRP2	8828	broad.mit.edu	37	2	206628528	206628528	+	Silent	SNP	C	C	G			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:206628528C>G	ENST00000357785.5	+	13	2206	c.2175C>G	c.(2173-2175)ggC>ggG	p.G725G	NRP2_ENST00000540841.1_Silent_p.G725G|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000272849.3_Silent_p.G725G|NRP2_ENST00000412873.2_Silent_p.G725G|NRP2_ENST00000360409.3_Silent_p.G725G|NRP2_ENST00000540178.1_Silent_p.G725G|NRP2_ENST00000485684.1_3'UTR|AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000357118.4_Silent_p.G725G|AC007362.3_ENST00000598710.1_RNA			Q99435	NELL2_HUMAN	neuropilin 2	0	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCACGGGCGGCCGCGGGGTGG	0.692											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(2173-2175)ggC>ggG		neuropilin 2							38.0	45.0	42.0					2																	206628528		2203	4298	6501	SO:0001819	synonymous_variant	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206628528C>G	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2175C>G	2.37:g.206628528C>G			OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2161	NRP2_ENST00000485684.1_3'UTR|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000357118.4_Silent_p.G725G|NRP2_ENST00000272849.3_Silent_p.G725G|NRP2_ENST00000540841.1_Silent_p.G725G|AC007362.3_ENST00000598710.1_RNA|AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000412873.2_Silent_p.G725G|NRP2_ENST00000357785.5_Silent_p.G725G|NRP2_ENST00000540178.1_Silent_p.G725G	p.G725G	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			13	2966	+			725			MAM.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000357785.5	37	c.2175C>G	CCDS46496.1																																																																																				0.692	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			6	58	0	0	0	1	0	6	58				
PELI3	246330	broad.mit.edu	37	11	66243323	66243323	+	Silent	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:66243323C>T	ENST00000320740.7	+	8	1255	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V	CTD-3074O7.5_ENST00000525142.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|PELI3_ENST00000531856.1_3'UTR|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000602951.1_RNA|CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000349459.6_Silent_p.V341V	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	365					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GCGGGCACGTCCATGGCTACC	0.711																																						ENST00000349459.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						c.(1021-1023)gtC>gtT		pellino E3 ubiquitin protein ligase family member 3							9.0	10.0	9.0					11																	66243323		2077	4094	6171	SO:0001819	synonymous_variant	246330					cytosol	protein binding	g.chr11:66243323C>T	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.1095C>T	11.37:g.66243323C>T						PELI3_ENST00000531856.1_3'UTR|PELI3_ENST00000320740.7_Silent_p.V365V|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA	p.V341V	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN			7	1307	+			365					Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Silent	SNP	ENST00000320740.7	37	c.1023C>T	CCDS31615.1																																																																																				0.711	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065		12	12	0	0	0	1	0	12	12				
IHH	3549	broad.mit.edu	37	2	219922332	219922332	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:219922332C>T	ENST00000295731.6	-	2	399	c.400G>A	c.(400-402)Gac>Aac	p.D134N	MIR3131_ENST00000583592.1_RNA	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	134					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTCCTCGTCCCAGCCCTCG	0.627																																						ENST00000295731.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14						c.(400-402)Gac>Aac		indian hedgehog							65.0	55.0	59.0					2																	219922332		2203	4300	6503	SO:0001583	missense	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219922332C>T	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.400G>A	2.37:g.219922332C>T	ENSP00000295731:p.Asp134Asn						p.D134N	NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	399	-		Renal(207;0.0915)	134					B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	ENST00000295731.6	37	c.400G>A	CCDS33380.1	.	.	.	.	.	.	.	.	.	.	C	37	6.059759	0.97246	.	.	ENSG00000163501	ENST00000295731	D	0.99582	-6.22	5.78	5.78	0.91487	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98308	1.0522	10	0.49607	T	0.09	-27.9432	19.613	0.95618	0.0:1.0:0.0:0.0	.	134	Q14623	IHH_HUMAN	N	134	ENSP00000295731:D134N	ENSP00000295731:D134N	D	-	1	0	IHH	219630576	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.792000	0.85828	2.722000	0.93159	0.650000	0.86243	GAC		0.627	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		14	17	0	0	0	1	0	14	17				
SCN11A	11280	broad.mit.edu	37	3	38938452	38938452	+	Missense_Mutation	SNP	G	G	A	rs537371340		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr3:38938452G>A	ENST00000302328.3	-	14	2485	c.2287C>T	c.(2287-2289)Cgc>Tgc	p.R763C	SCN11A_ENST00000456224.3_Missense_Mutation_p.R763C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R763C|SCN11A_ENST00000444237.2_Missense_Mutation_p.R763C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	763					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGAGGATGCGGAATACCACT	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		16955	0.0		0.0	False		,,,				2504	0.001					ENST00000450244.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(2287-2289)Cgc>Tgc		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						125.0	113.0	117.0					3																	38938452		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38938452G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2287C>T	3.37:g.38938452G>A	ENSP00000307599:p.Arg763Cys					SCN11A_ENST00000444237.2_Missense_Mutation_p.R763C|SCN11A_ENST00000302328.3_Missense_Mutation_p.R763C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R763C	p.R763C			Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	14	2485	-			763					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2287C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	35	5.468244	0.96274	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4	5.95	5.95	0.96441	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99208	0.9725	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98760	1.0724	10	0.87932	D	0	.	20.4024	0.99000	0.0:0.0:1.0:0.0	.	763	Q9UI33	SCNBA_HUMAN	C	763	ENSP00000307599:R763C;ENSP00000400945:R763C;ENSP00000416757:R763C;ENSP00000408028:R763C	ENSP00000307599:R763C	R	-	1	0	SCN11A	38913456	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.812000	0.86109	2.827000	0.97445	0.650000	0.86243	CGC		0.473	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		4	25	0	0	0	1	0	4	25				
ZNF621	285268	broad.mit.edu	37	3	40574112	40574112	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr3:40574112T>G	ENST00000339296.5	+	5	1303	c.851T>G	c.(850-852)aTt>aGt	p.I284S	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.I173S|ZNF621_ENST00000403205.2_Missense_Mutation_p.I284S|ZNF621_ENST00000310898.1_Intron	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CATCAGAGAATTCATACTGGG	0.433																																						ENST00000339296.5																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(850-852)aTt>aGt		zinc finger protein 621							64.0	71.0	68.0					3																	40574112		2203	4300	6503	SO:0001583	missense	285268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40574112T>G	AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"""Zinc fingers, C2H2-type"", ""-"""	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.851T>G	3.37:g.40574112T>G	ENSP00000340841:p.Ile284Ser					ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.I284S|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.I173S	p.I284S	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	5	1303	+			284					Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	c.851T>G	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	t	10.04	1.241208	0.22711	.	.	ENSG00000172888	ENST00000403205;ENST00000339296;ENST00000431278	T;T;T	0.17691	2.26;2.26;2.26	3.75	-0.011	0.13994	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.539850	0.13915	U	0.353974	T	0.27731	0.0682	L	0.49699	1.58	0.09310	N	1	P;D	0.89917	0.521;1.0	B;D	0.81914	0.343;0.995	T	0.09707	-1.0662	10	0.87932	D	0	.	3.5546	0.07860	0.167:0.1995:0.0:0.6335	.	173;284	C9JZC2;Q6ZSS3	.;ZN621_HUMAN	S	284;284;173	ENSP00000386051:I284S;ENSP00000340841:I284S;ENSP00000413236:I173S	ENSP00000340841:I284S	I	+	2	0	ZNF621	40549116	0.000000	0.05858	0.000000	0.03702	0.426000	0.31534	0.942000	0.29017	0.001000	0.14605	-0.344000	0.07964	ATT		0.433	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		10	23	0	0	0	1	0	10	23				
GRM4	2914	broad.mit.edu	37	6	34029798	34029798	+	Silent	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:34029798C>T	ENST00000538487.2	-	4	1187	c.744G>A	c.(742-744)gtG>gtA	p.V248V	GRM4_ENST00000455714.2_Silent_p.V108V|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000535756.1_Silent_p.V115V|GRM4_ENST00000544773.2_Silent_p.V79V|GRM4_ENST00000374177.3_Silent_p.V179V|GRM4_ENST00000374181.4_Silent_p.V248V|GRM4_ENST00000609222.1_Silent_p.V115V	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	248					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GGGCGATGCACACGCCCCCTG	0.642																																						ENST00000545715.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48								glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						80.0	72.0	75.0					6																	34029798		2203	4300	6503	SO:0001819	synonymous_variant	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34029798C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.744G>A	6.37:g.34029798C>T						GRM4_ENST00000455714.2_Silent_p.V108V|GRM4_ENST00000374181.3_Silent_p.V248V|GRM4_ENST00000374177.3_Silent_p.V179V|GRM4_ENST00000535756.1_Silent_p.V115V|GRM4_ENST00000538487.1_Silent_p.V248V|GRM4_ENST00000544773.1_Silent_p.V79V				Q14833	GRM4_HUMAN			0	297	-								B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Translation_Start_Site	SNP	ENST00000538487.2	37		CCDS4787.1																																																																																				0.642	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			15	28	0	0	0	1	0	15	28				
THEMIS2	9473	broad.mit.edu	37	1	28206168	28206168	+	Silent	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr1:28206168C>T	ENST00000373921.3	+	3	253	c.249C>T	c.(247-249)ccC>ccT	p.P83P	THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000373925.1_Silent_p.P83P|THEMIS2_ENST00000328928.7_Silent_p.P83P	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	83	CABIT 1.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											ACTTCACCCCCCTCAACACCC	0.617																																						ENST00000373921.3																			0											c.(247-249)ccC>ccT		thymocyte selection associated family member 2							68.0	72.0	71.0					1																	28206168		2203	4300	6503	SO:0001819	synonymous_variant	9473							g.chr1:28206168C>T	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.249C>T	1.37:g.28206168C>T						THEMIS2_ENST00000373925.1_Silent_p.P83P|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Silent_p.P83P	p.P83P	NM_001105556.1	NP_001099026.1					3	253	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Silent	SNP	ENST00000373921.3	37	c.249C>T	CCDS41290.1																																																																																				0.617	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		4	22	0	0	0	1	0	4	22				
BCORL1	63035	broad.mit.edu	37	X	129189971	129189971	+	Silent	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:129189971C>T	ENST00000218147.7	+	13	5193	c.4996C>T	c.(4996-4998)Ctg>Ttg	p.L1666L	BCORL1_ENST00000359304.2_Silent_p.L1536L|BCORL1_ENST00000303743.5_Silent_p.L1740L|BCORL1_ENST00000540052.1_Silent_p.L1666L			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1666					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGTCAGCTGCTGACCCCTGC	0.617																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(4996-4998)Ctg>Ttg		BCL6 corepressor-like 1							65.0	65.0	65.0					X																	129189971		2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129189971C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4996C>T	X.37:g.129189971C>T						BCORL1_ENST00000218147.7_Silent_p.L1666L|BCORL1_ENST00000303743.5_Silent_p.L1740L|BCORL1_ENST00000359304.2_Silent_p.L1536L	p.L1666L	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			12	5040	+			1666					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.4996C>T	CCDS14616.1																																																																																				0.617	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		53	88	0	0	0	1	0	53	88				
TAAR9	134860	broad.mit.edu	37	6	132860099	132860099	+	RNA	SNP	C	C	T	rs558339339		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:132860099C>T	ENST00000434551.1	+	0	671					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TTTTTGGTGGCCAAGCATCAG	0.433													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19052	0.0		0.0	False		,,,				2504	0.0				Colon(10;433 445 15992 45047 47213)	ENST00000434551.1																			0													trace amine associated receptor 9 (gene/pseudogene)							93.0	91.0	91.0					6																	132860099		1877	4108	5985			134860					plasma membrane	G-protein coupled receptor activity	g.chr6:132860099C>T	AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"""GPCR / Class A : Trace amine associated receptors"""	20977	protein-coding gene	gene with protein product		608282	"""trace amine receptor 3"", ""trace amine associated receptor 9"""	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132860099C>T								NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)	0	671	+	Breast(56;0.112)								RNA	SNP	ENST00000434551.1	37																																																																																						0.433	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057		18	48	0	0	0	1	0	18	48				
JPH1	56704	broad.mit.edu	37	8	75157237	75157237	+	Missense_Mutation	SNP	A	A	G	rs149108334		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr8:75157237A>G	ENST00000342232.4	-	4	1472	c.1432T>C	c.(1432-1434)Tcc>Ccc	p.S478P	JPH1_ENST00000518195.1_5'Flank	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	478					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTTGGGGAGGAAGCAGGAGAG	0.537																																						ENST00000342232.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1432-1434)Tcc>Ccc		junctophilin 1							141.0	129.0	133.0					8																	75157237		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75157237A>G	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1432T>C	8.37:g.75157237A>G	ENSP00000344488:p.Ser478Pro						p.S478P	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		4	1472	-	Breast(64;0.00576)		478					B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.1432T>C	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	A	1.215	-0.628580	0.03610	.	.	ENSG00000104369	ENST00000342232	T	0.57436	0.4	4.14	-1.46	0.08800	.	0.364053	0.32120	N	0.006554	T	0.31071	0.0785	L	0.29908	0.895	0.34242	D	0.677745	B	0.02656	0.0	B	0.01281	0.0	T	0.08659	-1.0711	10	0.25751	T	0.34	.	5.4381	0.16492	0.4317:0.1592:0.409:0.0	.	478	Q9HDC5	JPH1_HUMAN	P	478	ENSP00000344488:S478P	ENSP00000344488:S478P	S	-	1	0	JPH1	75319791	0.971000	0.33674	0.060000	0.19600	0.067000	0.16453	0.601000	0.24119	-0.468000	0.06922	-0.417000	0.06048	TCC		0.537	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			4	88	0	0	0	1	0	4	88				
MLLT4	4301	broad.mit.edu	37	6	168281192	168281192	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:168281192G>A	ENST00000447894.2	+	6	892	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	MLLT4_ENST00000351017.4_Missense_Mutation_p.A298T|MLLT4_ENST00000400822.3_Missense_Mutation_p.A297T|MLLT4_ENST00000392112.1_Missense_Mutation_p.A297T|MLLT4_ENST00000344191.4_Missense_Mutation_p.A298T|MLLT4_ENST00000392108.3_Missense_Mutation_p.A298T|MLLT4_ENST00000366806.2_Missense_Mutation_p.A298T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	298	Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTACTGCATCGCCCGGGTAAG	0.383			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(892-894)Gcc>Acc		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							99.0	110.0	106.0					6																	168281192		2203	4296	6499	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168281192G>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.892G>A	6.37:g.168281192G>A	ENSP00000404595:p.Ala298Thr					MLLT4_ENST00000344191.4_Missense_Mutation_p.A298T|MLLT4_ENST00000392108.3_Missense_Mutation_p.A298T|MLLT4_ENST00000392112.1_Missense_Mutation_p.A297T|MLLT4_ENST00000351017.4_Missense_Mutation_p.A298T|MLLT4_ENST00000447894.2_Missense_Mutation_p.A298T|MLLT4_ENST00000400822.3_Missense_Mutation_p.A297T	p.A298T			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	6	1034	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	298			Ras-associating 2.		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.892G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.404298|4.404298	0.83230|0.83230	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000423229	T;T;T;T;T;T;T|.	0.17370|.	2.28;2.28;2.28;2.28;2.28;2.28;2.28|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.057014|.	0.64402|.	D|.	0.000001|.	T|T	0.61261|0.61261	0.2333|0.2333	L|L	0.47716|0.47716	1.5|1.5	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.69078|.	0.997;0.965;0.965|.	P;P;P|.	0.59825|.	0.864;0.698;0.637|.	T|T	0.57376|0.57376	-0.7822|-0.7822	10|5	0.54805|.	T|.	0.06|.	-8.2159|-8.2159	18.8279|18.8279	0.92125|0.92125	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	297;298;297|.	P55196-5;P55196-6;P55196-2|.	.;.;.|.	T|H	298;298;298;298;297;298;297;298|11	ENSP00000341118:A298T;ENSP00000252692:A298T;ENSP00000375956:A298T;ENSP00000355771:A298T;ENSP00000375960:A297T;ENSP00000383623:A297T;ENSP00000404595:A298T|.	ENSP00000345834:A298T|.	A|R	+|+	1|2	0|0	MLLT4|MLLT4	168024041|168024041	1.000000|1.000000	0.71417|0.71417	0.914000|0.914000	0.36105|0.36105	0.589000|0.589000	0.36550|0.36550	7.109000|7.109000	0.77062|0.77062	2.651000|2.651000	0.90000|0.90000	0.650000|0.650000	0.86243|0.86243	GCC|CGC		0.383	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		10	102	0	0	0	1	0	10	102				
PMS2	5395	broad.mit.edu	37	7	6045657	6045657	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr7:6045657T>G	ENST00000265849.7	-	2	134	c.29A>C	c.(28-30)gAa>gCa	p.E10A	Y_RNA_ENST00000365120.1_RNA|PMS2_ENST00000382321.4_Missense_Mutation_p.E10A|PMS2_ENST00000469652.1_5'UTR|PMS2_ENST00000406569.3_Missense_Mutation_p.E10A|PMS2_ENST00000441476.2_5'Flank	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	10					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTTAGCAGGTTCTGTACTAGA	0.388			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000265849.7			yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	"""Mis, N, F"""	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(28-30)gAa>gCa	Direct reversal of damage;Mismatch excision repair (MMR)	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)							145.0	181.0	167.0					7																	6045657		1353	2303	3656	SO:0001583	missense	5395	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6045657T>G		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.29A>C	7.37:g.6045657T>G	ENSP00000265849:p.Glu10Ala					PMS2_ENST00000382321.4_Missense_Mutation_p.E10A|PMS2_ENST00000469652.1_5'UTR|PMS2_ENST00000406569.3_Missense_Mutation_p.E10A	p.E10A	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	2	134	-		Ovarian(82;0.0694)	10					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.29A>C	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.213874	0.58452	.	.	ENSG00000122512	ENST00000265849;ENST00000382321;ENST00000406569	D;D;D	0.87412	-1.97;-2.25;-2.18	5.67	5.67	0.87782	.	0.186557	0.44483	D	0.000458	D	0.89884	0.6844	L	0.46157	1.445	0.80722	D	1	P;D;D	0.65815	0.486;0.995;0.991	B;D;P	0.63703	0.272;0.917;0.884	D	0.87490	0.2426	10	0.21540	T	0.41	.	15.9013	0.79380	0.0:0.0:0.0:1.0	.	10;10;10	P54278-3;P54278-2;P54278	.;.;PMS2_HUMAN	A	10	ENSP00000265849:E10A;ENSP00000371758:E10A;ENSP00000384308:E10A	ENSP00000265849:E10A	E	-	2	0	PMS2	6012183	1.000000	0.71417	0.932000	0.37286	0.965000	0.64279	3.557000	0.53741	2.151000	0.67156	0.477000	0.44152	GAA		0.388	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		17	139	0	0	0	1	0	17	139				
SLC26A4	5172	broad.mit.edu	37	7	107303781	107303781	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr7:107303781G>T	ENST00000265715.3	+	3	429	c.205G>T	c.(205-207)Gtg>Ttg	p.V69L	SLC26A4-AS1_ENST00000449741.1_RNA|SLC26A4-AS1_ENST00000591896.1_RNA|SLC26A4-AS1_ENST00000587899.1_RNA|SLC26A4-AS1_ENST00000440512.1_RNA	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	69					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AAAGACTCTTGTGCCCATCTT	0.468									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(205-207)Gtg>Ttg		solute carrier family 26 (anion exchanger), member 4							159.0	148.0	152.0					7																	107303781		2203	4300	6503	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107303781G>T	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.205G>T	7.37:g.107303781G>T	ENSP00000265715:p.Val69Leu						p.V69L	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			3	429	+			69					B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.205G>T	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.817808	0.00595	.	.	ENSG00000091137	ENST00000265715;ENST00000440056	D;D	0.90069	-2.61;-2.61	4.81	-2.57	0.06248	.	0.399313	0.22512	N	0.059096	T	0.55065	0.1897	N	0.00602	-1.34	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.56074	-0.8039	10	0.02654	T	1	.	2.9468	0.05848	0.1135:0.3062:0.1135:0.4668	.	69	O43511	S26A4_HUMAN	L	69	ENSP00000265715:V69L;ENSP00000394760:V69L	ENSP00000265715:V69L	V	+	1	0	SLC26A4	107091017	0.000000	0.05858	0.853000	0.33588	0.224000	0.24922	-0.832000	0.04400	-0.400000	0.07656	-1.139000	0.01908	GTG		0.468	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		4	114	1	0	0.150653	1	0.150653	4	114				
OAZ1	4946	broad.mit.edu	37	19	2273072	2273072	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:2273072T>C	ENST00000602676.2	+	6	731	c.652T>C	c.(652-654)Ttc>Ctc	p.F218L	OAZ1_ENST00000588673.2_Missense_Mutation_p.F247L|OAZ1_ENST00000582888.4_Missense_Mutation_p.F216L|OAZ1_ENST00000322297.4_Missense_Mutation_p.F217L|OAZ1_ENST00000583542.4_Missense_Mutation_p.F226L			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1	218					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cytosol (GO:0005829)	ornithine decarboxylase inhibitor activity (GO:0008073)			endometrium(1)|lung(2)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	L-Ornithine(DB00129)	GGCCTACACGTTCGAGAGAGA	0.637																																						ENST00000583542.3																			0				endometrium(1)|lung(2)	3						c.(676-678)Ttc>Ctc		ornithine decarboxylase antizyme 1	L-Ornithine(DB00129)						27.0	29.0	28.0					19																	2273072		1892	4098	5990	SO:0001583	missense	4946				polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	ornithine decarboxylase inhibitor activity	g.chr19:2273072T>C		CCDS58639.1	19p13.3	2008-07-17				ENSG00000104904			8095	protein-coding gene	gene with protein product	"""antizyme 1"""	601579		OAZ		7811704, 8954789	Standard	NM_004152		Approved	AZI, MGC138338	uc002lvk.3	P54368		ENST00000602676.2:c.652T>C	19.37:g.2273072T>C	ENSP00000473381:p.Phe218Leu					OAZ1_ENST00000322297.4_Missense_Mutation_p.F217L|OAZ1_ENST00000592727.1_3'UTR|OAZ1_ENST00000602676.1_Missense_Mutation_p.F218L|OAZ1_ENST00000582888.3_Missense_Mutation_p.F216L	p.F226L			P54368	OAZ1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	755	+		Hepatocellular(1079;0.137)	218					O43382|Q14989|Q92595|Q9UPL9	Missense_Mutation	SNP	ENST00000602676.2	37	c.676T>C	CCDS58639.1	.	.	.	.	.	.	.	.	.	.	T	6.128	0.391856	0.11581	.	.	ENSG00000104904	ENST00000322297	T	0.20881	2.04	4.38	0.81	0.18732	Acyl-CoA N-acyltransferase (1);	0.389211	0.31051	N	0.008351	T	0.06234	0.0161	N	0.02202	-0.64	0.31549	N	0.658923	B	0.06786	0.001	B	0.10450	0.005	T	0.38887	-0.9640	10	0.09338	T	0.73	-28.061	7.2312	0.26043	0.0:0.3242:0.0:0.6758	.	218	P54368	OAZ1_HUMAN	L	217	ENSP00000314813:F217L	ENSP00000314813:F217L	F	+	1	0	OAZ1	2224072	0.783000	0.28701	0.275000	0.24674	0.800000	0.45204	0.945000	0.29056	-0.183000	0.10585	0.402000	0.26972	TTC		0.637	OAZ1-002	NOVEL	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467467.2	NM_004152		5	5	0	0	0	1	0	5	5				
HERC2P2	400322	broad.mit.edu	37	15	23283320	23283320	+	RNA	SNP	C	C	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr15:23283320C>A	ENST00000560464.1	-	0	5097									hect domain and RLD 2 pseudogene 2																		CAGCGTGTGCCTTTTCCTTCC	0.453																																						ENST00000560464.1																			0																																																			0							g.chr15:23283320C>A	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23283320C>A														0	5097	-									RNA	SNP	ENST00000560464.1	37																																																																																						0.453	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			5	39	1	0	0.014758	1	0.0151569	5	39				
KIAA0020	9933	broad.mit.edu	37	9	2829902	2829902	+	Missense_Mutation	SNP	C	C	T	rs558845198		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr9:2829902C>T	ENST00000397885.2	-	8	930	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	242	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		ATCTTCCTCACGTGGCCTTTA	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		20447	0.0		0.0	False		,,,				2504	0.001					ENST00000397885.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(724-726)Gtg>Atg		KIAA0020							199.0	174.0	182.0					9																	2829902		2203	4300	6503	SO:0001583	missense	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2829902C>T	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.724G>A	9.37:g.2829902C>T	ENSP00000380982:p.Val242Met					KIAA0020_ENST00000469168.1_5'UTR	p.V242M	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	8	930	-			242			PUM-HD.		A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	c.724G>A	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361899	0.82353	.	.	ENSG00000080608	ENST00000397885	T	0.16743	2.32	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.35653	0.0939	M	0.78637	2.42	0.80722	D	1	D;D	0.62365	0.991;0.97	P;P	0.49012	0.598;0.474	T	0.07233	-1.0783	10	0.62326	D	0.03	-0.9339	20.8794	0.99867	0.0:1.0:0.0:0.0	.	102;242	B2RDG4;Q15397	.;K0020_HUMAN	M	242	ENSP00000380982:V242M	ENSP00000380982:V242M	V	-	1	0	KIAA0020	2819902	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.753000	0.68736	2.941000	0.99782	0.655000	0.94253	GTG		0.448	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		29	99	0	0	0	1	0	29	99				
FECH	2235	broad.mit.edu	37	18	55238765	55238765	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr18:55238765C>T	ENST00000262093.5	-	4	473	c.322G>A	c.(322-324)Gca>Aca	p.A108T	FECH_ENST00000382873.3_Missense_Mutation_p.A114T|FECH_ENST00000585699.1_5'UTR	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	108					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				ATGAATGGTGCCAGCTTACTA	0.423																																						ENST00000262093.5																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(322-324)Gca>Aca		ferrochelatase							123.0	119.0	120.0					18																	55238765		2203	4300	6503	SO:0001583	missense	2235				generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding	g.chr18:55238765C>T	D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"""protoporphyria"""	612386	"""ferrochelatase (protoporphyria)"""			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.322G>A	18.37:g.55238765C>T	ENSP00000262093:p.Ala108Thr					FECH_ENST00000585699.1_5'UTR|FECH_ENST00000382873.3_Missense_Mutation_p.A114T	p.A108T	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN			4	473	-		Colorectal(73;0.227)	108					A8KA72|Q8IXN1|Q8NAN0	Missense_Mutation	SNP	ENST00000262093.5	37	c.322G>A	CCDS11964.1	.	.	.	.	.	.	.	.	.	.	C	32	5.105450	0.94245	.	.	ENSG00000066926	ENST00000262093;ENST00000382873	D;D	0.97328	-4.34;-4.34	5.68	4.81	0.61882	.	0.145297	0.64402	D	0.000009	D	0.98492	0.9497	H	0.97265	3.97	0.50632	D	0.999882	D;D	0.58970	0.984;0.977	P;P	0.51355	0.667;0.537	D	0.98810	1.0743	10	0.72032	D	0.01	-6.8349	14.3579	0.66750	0.0:0.9279:0.0:0.0721	.	108;114	P22830;P22830-2	HEMH_HUMAN;.	T	108;114	ENSP00000262093:A108T;ENSP00000372326:A114T	ENSP00000262093:A108T	A	-	1	0	FECH	53389763	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.628000	0.83189	1.422000	0.47177	0.561000	0.74099	GCA		0.423	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256098.1			5	63	0	0	0	1	0	5	63				
FAT3	120114	broad.mit.edu	37	11	92538511	92538511	+	Missense_Mutation	SNP	A	A	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:92538511A>T	ENST00000298047.6	+	10	9106	c.9089A>T	c.(9088-9090)gAt>gTt	p.D3030V	FAT3_ENST00000525166.1_Missense_Mutation_p.D2880V|FAT3_ENST00000409404.2_Missense_Mutation_p.D3030V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3030	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCAGTGTGTGATCAGGTGAGA	0.423										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(9088-9090)gAt>gTt		FAT atypical cadherin 3							57.0	56.0	56.0					11																	92538511		1937	4148	6085	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92538511A>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.9089A>T	11.37:g.92538511A>T	ENSP00000298047:p.Asp3030Val	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.D2880V|FAT3_ENST00000409404.2_Missense_Mutation_p.D3030V	p.D3030V			Q8TDW7	FAT3_HUMAN			10	9106	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3030			Cadherin 28.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.9089A>T		.	.	.	.	.	.	.	.	.	.	A	16.01	3.002759	0.54254	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01705	4.68;4.68;4.68	5.91	5.91	0.95273	.	.	.	.	.	T	0.03477	0.0100	L	0.35644	1.08	0.80722	D	1	P	0.48089	0.905	P	0.47827	0.558	T	0.63359	-0.6655	9	0.35671	T	0.21	.	16.3469	0.83138	1.0:0.0:0.0:0.0	.	3030	Q8TDW7-3	.	V	3030;3030;2880	ENSP00000298047:D3030V;ENSP00000387040:D3030V;ENSP00000432586:D2880V	ENSP00000298047:D3030V	D	+	2	0	FAT3	92178159	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	9.262000	0.95591	2.263000	0.75096	0.528000	0.53228	GAT		0.423	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		5	9	0	0	0	1	0	5	9				
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-	rs571486674|rs145808953		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(1435-1437)cfs		fibroblast growth factor receptor-like 1																																				SO:0001589	frameshift_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1019055_1019056delCA		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1435_1436delCA	4.37:g.1019065_1019066delCA	ENSP00000381498:p.His479fs					FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs	p.H479fs			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		8	2015_2016	+			479			His-rich.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Frame_Shift_Del	DEL	ENST00000398484.2	37	c.1435_1436delCA	CCDS3344.1																																																																																				0.584	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		3	5						3	5	---	---	---	---
CCNG2	901	broad.mit.edu	37	4	78080651	78080652	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr4:78080651_78080652insA	ENST00000316355.5	+	3	626_627	c.270_271insA	c.(271-273)atgfs	p.M91fs	CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000502280.1_Frame_Shift_Ins_p.M91fs|CCNG2_ENST00000509972.1_Frame_Shift_Ins_p.M91fs|CCNG2_ENST00000395640.1_Frame_Shift_Ins_p.M91fs|CCNG2_ENST00000354403.5_Frame_Shift_Ins_p.M91fs	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	91					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TCTTGGCTCTTATGAAGGTATT	0.356																																						ENST00000316355.5																			0				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(268-273)cttgaafs		cyclin G2																																				SO:0001589	frameshift_variant	901				cell cycle checkpoint|cell division|mitosis	cytoplasm		g.chr4:78080651_78080652insA	BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.271dupA	4.37:g.78080652_78080652dupA	ENSP00000315743:p.Met91fs					CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000395640.1_Frame_Shift_Ins_p.E91fs|CCNG2_ENST00000509972.1_Frame_Shift_Ins_p.E91fs|CCNG2_ENST00000502280.1_Frame_Shift_Ins_p.E91fs|CCNG2_ENST00000354403.5_Frame_Shift_Ins_p.E91fs	p.E91fs	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN			3	626_627	+			91					B4DF25|Q6FGA7|Q6FGC6	Frame_Shift_Ins	INS	ENST00000316355.5	37	c.270_271insA	CCDS3581.1																																																																																				0.356	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252404.3	NM_004354		13	73						13	73	---	---	---	---
RXRB	6257	broad.mit.edu	37	6	33159977	33159979	+	IGR	DEL	AGG	AGG	-			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:33159977_33159979delAGG	ENST00000374680.3	-	0	2908				COL11A2_ENST00000395194.1_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000374708.4_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000374714.1_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000357486.1_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000395197.1_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000374712.1_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000361917.1_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000341947.2_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000374713.1_In_Frame_Del_p.13_14LL>L	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta						cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	CACCAGAGGTAGGAGGAGGAGGA	0.675																																						ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(37-42)cta>ct		collagen, type XI, alpha 2			,,,	11,3241		1,9,1616					,,,	-5.0	0.1			8	29,6129		0,29,3050	no	coding,coding,coding,coding	COL11A2	NM_080681.2,NM_080680.2,NM_080679.2,NM_001163771.1	,,,	1,38,4666	A1A1,A1R,RR		0.4709,0.3383,0.4251	,,,	,,,		40,9370				SO:0001628	intergenic_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33159977_33159979delAGG	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298		6.37:g.33159986_33159988delAGG						COL11A2_ENST00000357486.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000374713.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000395197.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000374714.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000374712.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000374708.4_In_Frame_Del_p.LL13del|COL11A2_ENST00000361917.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000395194.1_In_Frame_Del_p.LL13del	p.LL13del	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			1	266_268	-			13					P28703|Q59G65|Q5JP92|Q5STQ1	In_Frame_Del	DEL	ENST00000374680.3	37	c.39_41delCCT	CCDS4768.1																																																																																				0.675	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		3	6						3	6	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA22_ENST00000384614.1_RNA|SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CTTTCTGTAACTTTTTTTTTTT	0.317																																						ENST00000426828.1																			0																																																			0							g.chr7:64528813_64528814insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528824_64528824dupT								NR_033416.1						0	621	+									RNA	INS	ENST00000426828.1	37																																																																																						0.317	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			4	7						4	7	---	---	---	---
LINC00599	157627	broad.mit.edu	37	8	9760970	9760973	+	lincRNA	DEL	GAGA	GAGA	-			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr8:9760970_9760973delGAGA	ENST00000385275.1	-	0	9_12					NR_029668.1				long intergenic non-protein coding RNA 599																		TGTGAACACGGAGAGAGAGGCCTT	0.52																																						ENST00000385275.1																			0																																																			0							g.chr8:9760970_9760973delGAGA	AF052108		8p23.1	2012-10-19			ENSG00000253230	ENSG00000253230		"""Long non-coding RNAs"", ""-"""	27231	non-coding RNA	RNA, long non-coding	"""retinal non-coding RNA 3"""					8619474, 9110174	Standard	NR_024281		Approved	Rncr3			OTTHUMG00000163734		8.37:g.9760974_9760977delGAGA								NR_029668.1						0	9_12	-									RNA	DEL	ENST00000385275.1	37																																																																																						0.520	LINC00599-201	KNOWN	basic	miRNA	lincRNA		NR_024281		8	10						8	10	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15343746	15343749	+	RNA	DEL	TCTG	TCTG	-	rs201012227|rs570464638	byFrequency	TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr21:15343746_15343749delTCTG	ENST00000344693.5	-	0	736				RNU6-954P_ENST00000411355.1_RNA	NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		CTCTGTGCTTTCTGATGTGCTGCT	0.407														730	0.145767	0.174	0.121	5008	,	,		17936	0.1806		0.0924	False		,,,				2504	0.1442					ENST00000344693.5																			0																																																			0							g.chr21:15343746_15343749delTCTG			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15343746_15343749delTCTG								NR_027270.1						0	736	-									RNA	DEL	ENST00000344693.5	37																																																																																						0.407	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			5	3						5	3	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76920172	76920173	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:76920172_76920173insT	ENST00000373344.5	-	11	4118_4119	c.3904_3905insA	c.(3904-3906)agafs	p.R1302fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.R1264fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1302	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTTCCAGTTCTTTTTTTCCCT	0.376			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		3	Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1)	central_nervous_system(2)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3904-3906)aacfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76920172_76920173insT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3905dupA	X.37:g.76920179_76920179dupT	ENSP00000362441:p.Arg1302fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.N1264fs	p.N1302fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			11	4118_4119	-			1302					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.3904_3905insA	CCDS14434.1																																																																																				0.376	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		45	29						45	29	---	---	---	---
