#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
RGS7	6000	broad.mit.edu	37	1	241099995	241099995	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:241099995G>T	ENST00000407727.1	-	4	237	c.238C>A	c.(238-240)Cat>Aat	p.H80N	RGS7_ENST00000331110.7_Missense_Mutation_p.H54N|RGS7_ENST00000366565.1_Missense_Mutation_p.H80N|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366562.4_Missense_Mutation_p.H80N|RGS7_ENST00000366564.1_Missense_Mutation_p.H80N|RGS7_ENST00000366563.1_Missense_Mutation_p.H80N			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	80	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTTCCCAAATGGAGCGCCTCC	0.388																																						ENST00000366565.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(238-240)Cat>Aat		regulator of G-protein signaling 7							72.0	78.0	76.0					1																	241099995		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241099995G>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.238C>A	1.37:g.241099995G>T	ENSP00000384428:p.His80Asn					RGS7_ENST00000366564.1_Missense_Mutation_p.H80N|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000407727.1_Missense_Mutation_p.H80N|RGS7_ENST00000366562.4_Missense_Mutation_p.H80N|RGS7_ENST00000366563.1_Missense_Mutation_p.H80N|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000331110.7_Missense_Mutation_p.H54N	p.H80N	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		5	619	-		all_cancers(173;0.0131)	80			DEP.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.238C>A		.	.	.	.	.	.	.	.	.	.	G	19.82	3.897801	0.72639	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000366562;ENST00000407727	T;T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98;1.98	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.41143	0.1146	L	0.48174	1.505	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.965	D;D;D;P	0.87578	0.998;0.997;0.998;0.664	T	0.02901	-1.1096	10	0.32370	T	0.25	-1.3729	18.4365	0.90648	0.0:0.0:1.0:0.0	.	54;80;80;80	B7Z257;P49802-2;P49802-5;P49802-3	.;.;.;.	N	54;80;80;80;80;80	ENSP00000331485:H54N;ENSP00000355523:H80N;ENSP00000355522:H80N;ENSP00000355521:H80N;ENSP00000355520:H80N;ENSP00000384428:H80N	ENSP00000331485:H54N	H	-	1	0	RGS7	239166618	1.000000	0.71417	0.961000	0.40146	0.974000	0.67602	9.587000	0.98229	2.595000	0.87683	0.563000	0.77884	CAT		0.388	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		8	65	1	0	0.00307968	1	0.00328386	8	65				
DGKA	1606	broad.mit.edu	37	12	56334184	56334184	+	Silent	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:56334184G>T	ENST00000331886.5	+	11	1339	c.885G>T	c.(883-885)ctG>ctT	p.L295L	DGKA_ENST00000394147.1_Silent_p.L295L|DGKA_ENST00000551156.1_Silent_p.L295L|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	295					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	ACCACAGTCTGACCGGGCTGC	0.602											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000331886.5																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25						c.(883-885)ctG>ctT		diacylglycerol kinase, alpha 80kDa	Vitamin E(DB00163)						117.0	111.0	113.0					12																	56334184		2203	4300	6503	SO:0001819	synonymous_variant	1606				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	g.chr12:56334184G>T	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.885G>T	12.37:g.56334184G>T			OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014	DGKA_ENST00000551156.1_Silent_p.L295L|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Silent_p.L295L	p.L295L	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN			11	1339	+			295					O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Silent	SNP	ENST00000331886.5	37	c.885G>T	CCDS8896.1																																																																																				0.602	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1			10	110	1	0	0.000978159	1	0.0010488	10	110				
AGFG2	3268	broad.mit.edu	37	7	100161551	100161551	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:100161551C>T	ENST00000300176.4	+	10	1388	c.1266C>T	c.(1264-1266)ttC>ttT	p.F422F	AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	422	Pro-rich.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACCGCTGTTCCCCCCGCAGA	0.597											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000300176.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1264-1266)ttC>ttT		ArfGAP with FG repeats 2							70.0	76.0	74.0					7																	100161551		2203	4300	6503	SO:0001819	synonymous_variant	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100161551C>T	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.1266C>T	7.37:g.100161551C>T			OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1349	AGFG2_ENST00000474713.1_Intron|AGFG2_ENST00000262935.4_3'UTR	p.F422F	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN			10	1388	+			422			Pro-rich.		O75429|Q96AB9|Q96GL4	Silent	SNP	ENST00000300176.4	37	c.1266C>T	CCDS5697.1	.	.	.	.	.	.	.	.	.	.	C	0.331	-0.955946	0.02267	.	.	ENSG00000106351	ENST00000429987	.	.	.	4.34	3.46	0.39613	.	.	.	.	.	T	0.57829	0.2080	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53697	-0.8402	4	.	.	.	-7.9592	8.1032	0.30870	0.0:0.8904:0.0:0.1096	.	.	.	.	F	164	.	.	S	+	2	0	AGFG2	99999487	0.609000	0.26975	0.424000	0.26647	0.004000	0.04260	0.167000	0.16602	1.071000	0.40834	-0.266000	0.10368	TCC		0.597	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		9	116	0	0	0	1	0	9	116				
YWHAQ	10971	broad.mit.edu	37	2	9725446	9725446	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:9725446T>A	ENST00000381844.4	-	5	870	c.707A>T	c.(706-708)gAa>gTa	p.E236V	YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Missense_Mutation_p.E236V			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta	236					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CGCATCACATTCTTCTCCTGC	0.368																																						ENST00000381844.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(706-708)gAa>gTa		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide							118.0	111.0	113.0					2																	9725446		2203	4300	6503	SO:0001583	missense	10971				negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding	g.chr2:9725446T>A	AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"""protein tau"""	609009	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"""			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.707A>T	2.37:g.9725446T>A	ENSP00000371267:p.Glu236Val					YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Missense_Mutation_p.E236V	p.E236V			P27348	1433T_HUMAN		Epithelial(75;0.241)	5	870	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		236					D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Missense_Mutation	SNP	ENST00000381844.4	37	c.707A>T	CCDS1666.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.974835	0.53720	.	.	ENSG00000134308	ENST00000238081;ENST00000381844;ENST00000539979	T;T	0.50001	0.76;0.76	5.22	5.22	0.72569	14-3-3 domain (1);	0.000000	0.64402	D	0.000005	T	0.52693	0.1750	L	0.34521	1.04	0.58432	D	0.999997	D	0.56746	0.977	P	0.56434	0.798	T	0.54938	-0.8218	10	0.54805	T	0.06	.	15.4565	0.75318	0.0:0.0:0.0:1.0	.	236	P27348	1433T_HUMAN	V	236;236;201	ENSP00000238081:E236V;ENSP00000371267:E236V	ENSP00000238081:E236V	E	-	2	0	YWHAQ	9642897	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.610000	0.82949	2.126000	0.65437	0.378000	0.23410	GAA		0.368	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039014.4	NM_006826		5	64	0	0	0	1	0	5	64				
ULK1	8408	broad.mit.edu	37	12	132405861	132405861	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:132405861C>T	ENST00000321867.4	+	28	3459	c.3108C>T	c.(3106-3108)tgC>tgT	p.C1036C	ULK1_ENST00000540647.1_Silent_p.C281C	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	1036					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCAAGCTGTGCATTGAGCGGA	0.667																																						ENST00000321867.4																			0				breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(3106-3108)tgC>tgT		unc-51 like autophagy activating kinase 1							124.0	119.0	121.0					12																	132405861		2203	4300	6503	SO:0001819	synonymous_variant	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132405861C>T	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.3108C>T	12.37:g.132405861C>T						ULK1_ENST00000540647.1_Silent_p.C281C	p.C1036C	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	28	3459	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		1036					Q9UQ28	Silent	SNP	ENST00000321867.4	37	c.3108C>T	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.697308	0.30142	.	.	ENSG00000177169	ENST00000538444	.	.	.	4.03	3.14	0.36123	.	.	.	.	.	T	0.65176	0.2666	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67248	-0.5718	5	0.87932	D	0	-37.0096	9.5136	0.39091	0.0:0.8265:0.0:0.1735	.	.	.	.	Y	87	.	ENSP00000439648:H87Y	H	+	1	0	ULK1	130971814	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.145000	0.31577	1.051000	0.40369	0.561000	0.74099	CAT		0.667	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			11	161	0	0	0	1	0	11	161				
RCC1	1104	broad.mit.edu	37	1	28858316	28858316	+	Splice_Site	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:28858316C>T	ENST00000373833.6	+	6	360	c.75C>T	c.(73-75)gtC>gtT	p.V25V	RCC1_ENST00000373831.3_Splice_Site_p.V56V|RCC1_ENST00000398958.2_Splice_Site_p.V25V|RCC1_ENST00000373832.1_Splice_Site_p.V25V			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	25					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCTTCAGTCTCACACAGGT	0.587																																						ENST00000373833.6																			0				breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14						c.e6-1		regulator of chromosome condensation 1							54.0	56.0	55.0					1																	28858316		2203	4300	6503	SO:0001630	splice_region_variant	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28858316C>T	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.74-1C>T	1.37:g.28858316C>T						RCC1_ENST00000373831.3_Splice_Site_p.V56_splice|RCC1_ENST00000373832.1_Splice_Site_p.V25_splice|RCC1_ENST00000398958.2_Splice_Site_p.V25_splice	p.V25_splice			P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	6	360	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	25					Q16269|Q6NT97	Splice_Site	SNP	ENST00000373833.6	37	c.73_splice	CCDS323.1																																																																																				0.587	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269	Silent	13	48	0	0	0	1	0	13	48				
DYNC1H1	1778	broad.mit.edu	37	14	102516442	102516442	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr14:102516442C>T	ENST00000360184.4	+	77	13883	c.13719C>T	c.(13717-13719)aaC>aaT	p.N4573N	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4573					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCAACAACAACAAGCTGTCAC	0.552																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(13717-13719)aaC>aaT		dynein, cytoplasmic 1, heavy chain 1							102.0	89.0	94.0					14																	102516442		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102516442C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13719C>T	14.37:g.102516442C>T						RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	p.N4573N	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			77	13883	+			4573					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.13719C>T	CCDS9966.1																																																																																				0.552	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		15	77	0	0	0	1	0	15	77				
BTN3A1	11119	broad.mit.edu	37	6	26413558	26413558	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:26413558A>G	ENST00000289361.6	+	10	1548	c.1180A>G	c.(1180-1182)Aga>Gga	p.R394G	BTN3A1_ENST00000414912.2_Missense_Mutation_p.R342G	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	394	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				activated T cell proliferation (GO:0050798)|cytokine secretion (GO:0050663)|interferon-gamma secretion (GO:0072643)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CATATCAGGGAGACATTACTG	0.507																																						ENST00000289361.6																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1180-1182)Aga>Gga		butyrophilin, subfamily 3, member A1							142.0	150.0	147.0					6																	26413558		2203	4300	6503	SO:0001583	missense	11119				lipid metabolic process	integral to membrane		g.chr6:26413558A>G	U90552	CCDS4608.1, CCDS4609.1, CCDS47388.1, CCDS47389.1	6p22.1	2014-01-14			ENSG00000026950	ENSG00000026950		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1138	protein-coding gene	gene with protein product		613593				9149941	Standard	NM_007048		Approved	BT3.1, BTF5, CD277, BTN3.1	uc003nhv.3	O00481	OTTHUMG00000014449	ENST00000289361.6:c.1180A>G	6.37:g.26413558A>G	ENSP00000289361:p.Arg394Gly					BTN3A1_ENST00000414912.2_Missense_Mutation_p.R342G	p.R394G	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN			10	1548	+			394			B30.2/SPRY.		A2A278|A8K2C8|B4DIQ1|B4DRM2|E9PGB4|E9PHG8|Q0P515|Q147X5|Q53F15|Q99420|Q9HCY1	Missense_Mutation	SNP	ENST00000289361.6	37	c.1180A>G	CCDS4608.1	.	.	.	.	.	.	.	.	.	.	.	18.12	3.553965	0.65425	.	.	ENSG00000026950	ENST00000289361;ENST00000414912	T;T	0.70986	-0.53;-0.53	2.96	0.117	0.14652	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	D	0.84206	0.5421	H	0.98388	4.22	0.24058	N	0.996027	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.987	T	0.74383	-0.3683	9	0.72032	D	0.01	.	9.0841	0.36570	0.4217:0.5783:0.0:0.0	.	342;394	E9PGB4;O00481	.;BT3A1_HUMAN	G	394;342	ENSP00000289361:R394G;ENSP00000406667:R342G	ENSP00000289361:R394G	R	+	1	2	BTN3A1	26521537	0.009000	0.17119	0.892000	0.35008	0.720000	0.41350	0.504000	0.22626	-0.098000	0.12285	-0.387000	0.06579	AGA		0.507	BTN3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040112.3			7	118	0	0	0	1	0	7	118				
SH3RF2	153769	broad.mit.edu	37	5	145439539	145439539	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:145439539C>G	ENST00000511217.1	+	8	1718	c.1666C>G	c.(1666-1668)Cca>Gca	p.P556A	SH3RF2_ENST00000359120.4_Missense_Mutation_p.P556A|SH3RF2_ENST00000511705.1_3'UTR			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	556					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTCTACCAGCCACAGGGGAT	0.672																																						ENST00000511217.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.(1666-1668)Cca>Gca		SH3 domain containing ring finger 2							62.0	57.0	59.0					5																	145439539		2203	4300	6503	SO:0001583	missense	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145439539C>G	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1666C>G	5.37:g.145439539C>G	ENSP00000424497:p.Pro556Ala					SH3RF2_ENST00000359120.4_Missense_Mutation_p.P556A|SH3RF2_ENST00000511705.1_3'UTR	p.P556A			Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		8	1718	+			556					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	c.1666C>G	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930789	0.34096	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.21361	2.01;2.01	5.32	3.2	0.36748	.	0.431758	0.22145	N	0.063994	T	0.33059	0.0850	L	0.47716	1.5	0.29371	N	0.863997	D;P	0.76494	0.999;0.841	D;B	0.83275	0.996;0.206	T	0.06917	-1.0800	10	0.27082	T	0.32	-12.3652	8.2696	0.31836	0.0:0.7876:0.0:0.2124	.	47;556	Q8TEC5-2;Q8TEC5	.;SH3R2_HUMAN	A	556	ENSP00000352028:P556A;ENSP00000424497:P556A	ENSP00000352028:P556A	P	+	1	0	SH3RF2	145419732	0.998000	0.40836	0.990000	0.47175	0.773000	0.43773	0.980000	0.29513	1.233000	0.43693	0.536000	0.68110	CCA		0.672	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550		8	104	0	0	0	1	0	8	104				
PEX5L	51555	broad.mit.edu	37	3	179526101	179526101	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:179526101C>A	ENST00000467460.1	-	13	1807	c.1477G>T	c.(1477-1479)Gca>Tca	p.A493S	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.A301S|PEX5L_ENST00000392649.3_Missense_Mutation_p.A385S|PEX5L_ENST00000476138.1_Missense_Mutation_p.A450S|PEX5L_ENST00000485199.1_Missense_Mutation_p.A458S|PEX5L_ENST00000263962.8_Missense_Mutation_p.A491S|PEX5L_ENST00000472994.1_Missense_Mutation_p.A434S|PEX5L_ENST00000464614.1_Missense_Mutation_p.A385S|PEX5L_ENST00000465751.1_Missense_Mutation_p.A469S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	493					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCATCTATTGCTCTATTAAAT	0.453																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1477-1479)Gca>Tca		peroxisomal biogenesis factor 5-like							103.0	99.0	101.0					3																	179526101		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179526101C>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1477G>T	3.37:g.179526101C>A	ENSP00000419975:p.Ala493Ser					PEX5L_ENST00000465751.1_Missense_Mutation_p.A469S|PEX5L_ENST00000464614.1_Missense_Mutation_p.A385S|PEX5L_ENST00000392649.3_Missense_Mutation_p.A385S|PEX5L_ENST00000485199.1_Missense_Mutation_p.A458S|PEX5L_ENST00000263962.8_Missense_Mutation_p.A491S|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.A301S|PEX5L_ENST00000476138.1_Missense_Mutation_p.A450S|PEX5L_ENST00000472994.1_Missense_Mutation_p.A434S	p.A493S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		13	1807	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		493					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.1477G>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	C	35	5.475865	0.96291	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	6.17	6.17	0.99709	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.94955	0.8368	M	0.79614	2.46	0.80722	D	1	D;D;D;D;D;D	0.89917	0.986;0.986;1.0;0.999;0.983;0.999	D;D;D;D;D;D	0.91635	0.995;0.995;0.999;0.996;0.991;0.998	D	0.94407	0.7628	10	0.87932	D	0	-18.1782	20.8794	0.99867	0.0:1.0:0.0:0.0	.	434;469;385;491;458;493	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	S	493;491;458;491;385;301;450;381;434;385;469	ENSP00000419975:A493S;ENSP00000263962:A491S;ENSP00000418440:A458S;ENSP00000376420:A385S;ENSP00000418665:A301S;ENSP00000420555:A450S;ENSP00000418054:A434S;ENSP00000417270:A385S;ENSP00000419348:A469S	ENSP00000263962:A491S	A	-	1	0	PEX5L	181008795	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.747000	0.85070	2.941000	0.99782	0.655000	0.94253	GCA		0.453	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		5	58	1	0	0.184627	1	0.185589	5	58				
TAAR9	134860	broad.mit.edu	37	6	132859943	132859943	+	RNA	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:132859943C>G	ENST00000434551.1	+	0	515					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)		TACACGGGAGCCAACGAAGAA	0.428																																					Colon(10;433 445 15992 45047 47213)	ENST00000434551.1																			0													trace amine associated receptor 9 (gene/pseudogene)							136.0	126.0	129.0					6																	132859943		1877	4116	5993			134860					plasma membrane	G-protein coupled receptor activity	g.chr6:132859943C>G	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.132859943C>G								NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)	0	515	+	Breast(56;0.112)								RNA	SNP	ENST00000434551.1	37																																																																																						0.428	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2	NM_175057		6	117	0	0	0	1	0	6	117				
GABRG1	2565	broad.mit.edu	37	4	46099269	46099269	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:46099269G>C	ENST00000295452.4	-	2	369	c.202C>G	c.(202-204)Ctg>Gtg	p.L68V		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	68					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AATGAATTCAGAATTTGTGTG	0.378																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(202-204)Ctg>Gtg		gamma-aminobutyric acid (GABA) A receptor, gamma 1							179.0	176.0	177.0					4																	46099269		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46099269G>C	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.202C>G	4.37:g.46099269G>C	ENSP00000295452:p.Leu68Val						p.L68V	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	2	369	-			68					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.202C>G	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.913347	0.52439	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.80994	-1.44	5.07	3.29	0.37713	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.85159	0.5633	M	0.79926	2.475	0.51482	D	0.999925	D	0.53619	0.961	P	0.59115	0.852	D	0.83433	0.0039	10	0.40728	T	0.16	.	6.0642	0.19854	0.1535:0.0:0.6921:0.1544	.	68	Q8N1C3	GBRG1_HUMAN	V	68	ENSP00000295452:L68V	ENSP00000295452:L68V	L	-	1	2	GABRG1	45794026	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	2.532000	0.45659	1.339000	0.45563	-0.181000	0.13052	CTG		0.378	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		20	74	0	0	0	1	0	20	74				
ERICH6	131831	broad.mit.edu	37	3	150416662	150416662	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:150416662G>T	ENST00000295910.6	-	3	521	c.469C>A	c.(469-471)Cat>Aat	p.H157N	FAM194A_ENST00000491361.1_Missense_Mutation_p.H11N	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AAATTGCGATGAATATTTCTG	0.318																																						ENST00000295910.6																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						c.(469-471)Cat>Aat		family with sequence similarity 194, member A							128.0	130.0	130.0					3																	150416662		2203	4300	6503	SO:0001583	missense	131831							g.chr3:150416662G>T																												ENST00000295910.6:c.469C>A	3.37:g.150416662G>T	ENSP00000295910:p.His157Asn					FAM194A_ENST00000491361.1_Missense_Mutation_p.H11N	p.H157N	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN			3	521	-			157						Missense_Mutation	SNP	ENST00000295910.6	37	c.469C>A	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	G	1.479	-0.557766	0.03967	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811;ENST00000474463;ENST00000498386	T;T;T;T	0.47528	2.72;2.54;0.84;0.87	3.83	0.157	0.14915	.	0.397061	0.18690	N	0.133900	T	0.16214	0.0390	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11991	-1.0565	10	0.40728	T	0.16	-7.9713	2.5584	0.04765	0.5768:0.0:0.2242:0.199	.	157	Q7L0X2	F194A_HUMAN	N	157;11;115;131;117	ENSP00000295910:H157N;ENSP00000419366:H11N;ENSP00000419304:H131N;ENSP00000417780:H117N	ENSP00000295910:H157N	H	-	1	0	FAM194A	151899352	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.315000	0.19451	0.027000	0.15297	-1.347000	0.01240	CAT		0.318	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			12	105	1	0	1.08611e-07	1	1.24035e-07	12	105				
UBXN11	91544	broad.mit.edu	37	1	26609384	26609384	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:26609384C>T	ENST00000374222.1	-	14	1586	c.1122G>A	c.(1120-1122)gaG>gaA	p.E374E	UBXN11_ENST00000314675.7_Silent_p.E254E|UBXN11_ENST00000374217.2_Silent_p.E341E|UBXN11_ENST00000374221.3_Silent_p.E374E|UBXN11_ENST00000374223.1_Silent_p.E131E|UBXN11_ENST00000357089.4_Silent_p.E341E			Q5T124	UBX11_HUMAN	UBX domain protein 11	374						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						AGGTGGGCGTCTCCACCACAA	0.647																																						ENST00000314675.7																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(760-762)gaG>gaA		UBX domain protein 11							66.0	77.0	74.0					1																	26609384		2096	4235	6331	SO:0001819	synonymous_variant	91544					cytoplasm|cytoskeleton		g.chr1:26609384C>T	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1122G>A	1.37:g.26609384C>T						UBXN11_ENST00000374217.2_Silent_p.E341E|UBXN11_ENST00000374221.3_Silent_p.E374E|UBXN11_ENST00000374222.1_Silent_p.E374E|UBXN11_ENST00000374223.1_Silent_p.E131E|UBXN11_ENST00000357089.4_Silent_p.E341E	p.E254E	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN			9	841	-			374			SEP.		D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	ENST00000374222.1	37	c.762G>A	CCDS41288.1																																																																																				0.647	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		17	61	0	0	0	1	0	17	61				
PRKY	5616	broad.mit.edu	37	Y	7172080	7172080	+	RNA	SNP	A	A	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chrY:7172080A>G	ENST00000528056.1	+	0	610					NR_028062.1		O43930	PRKY_HUMAN	protein kinase, Y-linked, pseudogene						protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(2)|lung(3)|skin(1)	6						CGCCGGAAGCAGGAGCAGCAC	0.597																																						ENST00000528056.1																			0				large_intestine(2)|lung(3)|skin(1)	6																																														5616							g.chrY:7172080A>G			Yp11.2	2011-09-15	2011-09-15		ENSG00000099725	ENSG00000099725			9444	pseudogene	pseudogene		400008	"""protein kinase, Y-linked"""			7633447	Standard	NR_028062		Approved	PRKYP, PRKXP3	uc004fre.3	O43930	OTTHUMG00000035301		Y.37:g.7172080A>G								NR_028062.1						0	610	+								O15348|O15349	RNA	SNP	ENST00000528056.1	37																																																																																						0.597	PRKY-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000085364.1			8	67	0	0	0	1	0	8	67				
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T	rs193920774		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:7577141C>T	ENST00000269305.4	-	8	986	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_ENST00000445888.2_Missense_Mutation_p.G266E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000455263.2_Missense_Mutation_p.G266E	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	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (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.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	GCTGTTCCGTCCCAGTAGATT	0.517		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"""		121	Substitution - Missense(95)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(23)|oesophagus(10)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(9)|breast(9)|upper_aerodigestive_tract(8)|ovary(8)|urinary_tract(7)|pancreas(6)|skin(5)|central_nervous_system(4)|stomach(4)|bone(4)|liver(4)|endometrium(3)|vulva(1)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|genital_tract(1)|biliary_tract(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.(796-798)gGa>gAa	Other conserved DNA damage response genes	tumor protein p53							50.0	44.0	46.0					17																	7577141		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.chr17:7577141C>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.797G>A	17.37:g.7577141C>T	ENSP00000269305:p.Gly266Glu	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_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000269305.4_Missense_Mutation_p.G266E|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G266E	p.G266E	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)	8	929	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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.797G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614795	0.87359	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99898	-7.61;-7.61;-7.61;-7.61;-7.61;-7.61	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.998	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	E	266;266;266;266;266;255;134	ENSP00000352610:G266E;ENSP00000269305:G266E;ENSP00000398846:G266E;ENSP00000391127:G266E;ENSP00000391478:G266E;ENSP00000425104:G134E	ENSP00000269305:G266E	G	-	2	0	TP53	7517866	1.000000	0.71417	0.996000	0.52242	0.744000	0.42396	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		5	24	0	0	0	1	0	5	24				
HERC2	8924	broad.mit.edu	37	15	28408263	28408263	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr15:28408263C>T	ENST00000261609.7	-	69	10831	c.10723G>A	c.(10723-10725)Ggc>Agc	p.G3575S		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTCCCCATGCCGGAAAGCACC	0.647																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(10723-10725)Ggc>Agc		HECT and RLD domain containing E3 ubiquitin protein ligase 2							78.0	77.0	77.0					15																	28408263		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28408263C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10723G>A	15.37:g.28408263C>T	ENSP00000261609:p.Gly3575Ser						p.G3575S	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	69	10831	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3575						Missense_Mutation	SNP	ENST00000261609.7	37	c.10723G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890949	0.52014	.	.	ENSG00000128731	ENST00000261609	T	0.36340	1.26	5.16	5.16	0.70880	.	0.057474	0.64402	D	0.000002	T	0.09069	0.0224	N	0.00677	-1.265	0.80722	D	1	P	0.44044	0.825	B	0.23716	0.048	T	0.42632	-0.9440	10	0.06494	T	0.89	.	19.0186	0.92903	0.0:1.0:0.0:0.0	.	3575	O95714	HERC2_HUMAN	S	3575	ENSP00000261609:G3575S	ENSP00000261609:G3575S	G	-	1	0	HERC2	26081858	1.000000	0.71417	0.969000	0.41365	0.803000	0.45373	7.776000	0.85560	2.550000	0.86006	0.655000	0.94253	GGC		0.647	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		11	65	0	0	0	1	0	11	65				
CC2D1A	54862	broad.mit.edu	37	19	14034231	14034231	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:14034231A>G	ENST00000318003.7	+	15	1968	c.1727A>G	c.(1726-1728)tAt>tGt	p.Y576C	CC2D1A_ENST00000589606.1_Missense_Mutation_p.Y576C	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	576					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCCCGGCGCTATGGTGAACTC	0.682																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(1726-1728)tAt>tGt		coiled-coil and C2 domain containing 1A							63.0	66.0	65.0					19																	14034231		2021	4162	6183	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14034231A>G	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1727A>G	19.37:g.14034231A>G	ENSP00000313601:p.Tyr576Cys					CC2D1A_ENST00000589606.1_Missense_Mutation_p.Y576C	p.Y576C	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		15	1968	+			576					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.1727A>G	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.425963	0.83667	.	.	ENSG00000132024	ENST00000318003;ENST00000254346;ENST00000397486	T	0.26518	1.73	5.19	5.19	0.71726	.	0.067018	0.64402	D	0.000009	T	0.49236	0.1545	M	0.79475	2.455	0.48236	D	0.999613	D;D;D	0.71674	0.996;0.997;0.998	P;P;D	0.64776	0.886;0.863;0.929	T	0.54556	-0.8276	10	0.87932	D	0	-6.9454	12.5972	0.56476	1.0:0.0:0.0:0.0	.	198;576;576	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	C	576;199;330	ENSP00000313601:Y576C	ENSP00000254346:Y199C	Y	+	2	0	CC2D1A	13895231	1.000000	0.71417	0.948000	0.38648	0.946000	0.59487	4.920000	0.63390	1.969000	0.57287	0.454000	0.30748	TAT		0.682	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		9	88	0	0	0	1	0	9	88				
NUDT22	84304	broad.mit.edu	37	11	63996766	63996766	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:63996766C>T	ENST00000279206.3	+	4	783	c.627C>T	c.(625-627)atC>atT	p.I209I	DNAJC4_ENST00000321460.5_5'Flank|DNAJC4_ENST00000355040.4_5'Flank|NUDT22_ENST00000441250.2_Silent_p.I176I|RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000321685.3_5'Flank|RP11-783K16.14_ENST00000539963.1_RNA	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	209	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.						hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						TGTTGGGCATCGCCCGAAATG	0.632																																						ENST00000279206.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						c.(625-627)atC>atT		nudix (nucleoside diphosphate linked moiety X)-type motif 22							40.0	38.0	38.0					11																	63996766		2196	4296	6492	SO:0001819	synonymous_variant	84304						hydrolase activity	g.chr11:63996766C>T	BC006129	CCDS8061.1, CCDS44640.1	11q13.1	2008-02-05			ENSG00000149761	ENSG00000149761		"""Nudix motif containing"""	28189	protein-coding gene	gene with protein product						12477932	Standard	NM_032344		Approved	MGC13045	uc009ype.4	Q9BRQ3	OTTHUMG00000167791	ENST00000279206.3:c.627C>T	11.37:g.63996766C>T						RP11-783K16.14_ENST00000534988.1_RNA|NUDT22_ENST00000441250.2_Silent_p.I176I	p.I209I	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720.1	Q9BRQ3	NUD22_HUMAN			4	783	+			209			Nudix hydrolase.		C9JY06|Q71RD5	Silent	SNP	ENST00000279206.3	37	c.627C>T	CCDS8061.1																																																																																				0.632	NUDT22-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396304.2	NM_032344		3	12	0	0	0	1	0	3	12				
LRP1	4035	broad.mit.edu	37	12	57556243	57556243	+	Silent	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:57556243G>T	ENST00000243077.3	+	14	2812	c.2346G>T	c.(2344-2346)ctG>ctT	p.L782L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	782					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACCCTTCTGCGCAGTGAGC	0.617																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(2344-2346)ctG>ctT		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						116.0	99.0	105.0					12																	57556243		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57556243G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2346G>T	12.37:g.57556243G>T							p.L782L	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	14	2812	+			782					Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.2346G>T	CCDS8932.1																																																																																				0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		12	96	1	0	1.5842e-08	1	1.84187e-08	12	96				
GTF3C5	9328	broad.mit.edu	37	9	135933278	135933278	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr9:135933278G>T	ENST00000372097.5	+	11	1794	c.1471G>T	c.(1471-1473)Gag>Tag	p.E491*	GTF3C5_ENST00000372108.5_Nonsense_Mutation_p.E498*|GTF3C5_ENST00000372099.6_Nonsense_Mutation_p.E482*|GTF3C5_ENST00000342018.8_Nonsense_Mutation_p.E429*	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	491	Glu-rich.|Poly-Glu.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		cgaggaggatgaggaggagga	0.577																																						ENST00000372097.5																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21						c.(1471-1473)Gag>Tag		general transcription factor IIIC, polypeptide 5, 63kDa							88.0	72.0	77.0					9																	135933278		2203	4300	6503	SO:0001587	stop_gained	9328					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr9:135933278G>T	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.1471G>T	9.37:g.135933278G>T	ENSP00000361169:p.Glu491*					GTF3C5_ENST00000372108.5_Nonsense_Mutation_p.E498*|GTF3C5_ENST00000372099.6_Nonsense_Mutation_p.E482*|GTF3C5_ENST00000342018.8_Nonsense_Mutation_p.E429*	p.E491*	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)	11	1794	+			491			Glu-rich.|Poly-Glu.		A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Nonsense_Mutation	SNP	ENST00000372097.5	37	c.1471G>T	CCDS6958.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.361898	0.61403	.	.	ENSG00000148308	ENST00000372097;ENST00000372099;ENST00000372108;ENST00000342018	.	.	.	4.92	4.02	0.46733	.	0.613229	0.16245	N	0.222954	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-12.7974	12.4931	0.55912	0.082:0.0:0.918:0.0	.	.	.	.	X	491;482;498;429	.	ENSP00000339530:E429X	E	+	1	0	GTF3C5	134923099	1.000000	0.71417	0.352000	0.25734	0.201000	0.24016	7.657000	0.83745	1.039000	0.40074	0.491000	0.48974	GAG		0.577	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		9	52	1	0	0.010729	1	0.011193	9	52				
TRIM50	135892	broad.mit.edu	37	7	72738498	72738498	+	Silent	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:72738498G>C	ENST00000333149.2	-	2	488	c.288C>G	c.(286-288)ctC>ctG	p.L96L	TRIM50_ENST00000453152.1_Silent_p.L96L|TRIM50_ENST00000493498.1_5'UTR	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	96						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						AGAAAAGGCTGAGCGGGTTCC	0.667											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333149.2																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						c.(286-288)ctC>ctG		tripartite motif containing 50							43.0	47.0	46.0					7																	72738498		2203	4296	6499	SO:0001819	synonymous_variant	135892					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding	g.chr7:72738498G>C	AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19017	protein-coding gene	gene with protein product		612548	"""tripartite motif-containing 50A"", ""tripartite motif-containing 50"""	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.288C>G	7.37:g.72738498G>C			OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1139	TRIM50_ENST00000493498.1_5'UTR|TRIM50_ENST00000453152.1_Silent_p.L96L	p.L96L	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN			2	488	-			96					Q86XT3	Silent	SNP	ENST00000333149.2	37	c.288C>G	CCDS34654.1																																																																																				0.667	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125		19	116	0	0	0	1	0	19	116				
MIR124-2HG	100130155	broad.mit.edu	37	8	65291711	65291711	+	lincRNA	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr8:65291711G>C	ENST00000521441.1	+	0	655				MIR124-2_ENST00000385081.1_RNA																							TCCGGATCAAGATTAGAGGCT	0.517																																						ENST00000521441.1																			0																				72.0	73.0	73.0					8																	65291711		1568	3582	5150			100130155							g.chr8:65291711G>C																													8.37:g.65291711G>C						MIR124-2_ENST00000385081.1_RNA								0	655	+									RNA	SNP	ENST00000521441.1	37																																																																																						0.517	LINC00966-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000378434.1			4	47	0	0	0	1	0	4	47				
TELO2	9894	broad.mit.edu	37	16	1550120	1550120	+	Silent	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr16:1550120G>T	ENST00000262319.6	+	7	1236	c.957G>T	c.(955-957)ctG>ctT	p.L319L		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	319					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				AGAGCCTGCTGGGCCATCTGG	0.697																																						ENST00000262319.6																			0				NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(955-957)ctG>ctT		telomere maintenance 2							16.0	16.0	16.0					16																	1550120		2192	4294	6486	SO:0001819	synonymous_variant	9894					chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding	g.chr16:1550120G>T	AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.957G>T	16.37:g.1550120G>T							p.L319L	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN			7	1236	+		Hepatocellular(780;0.219)	319					D3DU73|O75168|Q7LDV4|Q9BR21	Silent	SNP	ENST00000262319.6	37	c.957G>T	CCDS32363.1																																																																																				0.697	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2	NM_016111		5	21	1	0	1.024e-07	1	1.17638e-07	5	21				
ALDH16A1	126133	broad.mit.edu	37	19	49967959	49967959	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:49967959A>T	ENST00000293350.4	+	12	1671	c.1508A>T	c.(1507-1509)tAt>tTt	p.Y503F	ALDH16A1_ENST00000433981.2_Missense_Mutation_p.Y338F|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.Y340F|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.Y452F|CTD-3148I10.9_ENST00000599536.1_3'UTR	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	503						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.Y503C(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		AACCTGAACTATGACACCTTT	0.622																																						ENST00000293350.4																			1	Substitution - Missense(1)	p.Y503C(1)	lung(1)	cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20						c.(1507-1509)tAt>tTt		aldehyde dehydrogenase 16 family, member A1							140.0	145.0	143.0					19																	49967959		2203	4300	6503	SO:0001583	missense	126133						oxidoreductase activity|protein binding	g.chr19:49967959A>T	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1508A>T	19.37:g.49967959A>T	ENSP00000293350:p.Tyr503Phe					ALDH16A1_ENST00000455361.2_Missense_Mutation_p.Y452F|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.Y340F|CTD-3148I10.9_ENST00000599536.1_3'UTR|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.Y338F	p.Y503F	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	12	1671	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	503					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	37	c.1508A>T	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.805436	0.31961	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.73258	-0.73;-0.48;-0.65;-0.65	4.67	4.67	0.58626	Aldehyde/histidinol dehydrogenase (1);	0.851521	0.10407	N	0.678413	T	0.63248	0.2495	N	0.08118	0	0.34276	D	0.681581	D;P;D	0.63880	0.993;0.956;0.988	D;P;P	0.63033	0.91;0.628;0.815	T	0.57118	-0.7866	10	0.10636	T	0.68	-6.7222	8.4009	0.32586	0.8015:0.1985:0.0:0.0	.	340;452;503	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	F	503;452;340;338	ENSP00000293350:Y503F;ENSP00000410142:Y452F;ENSP00000445088:Y340F;ENSP00000398675:Y338F	ENSP00000293350:Y503F	Y	+	2	0	ALDH16A1	54659771	0.997000	0.39634	0.988000	0.46212	0.587000	0.36485	3.065000	0.49994	1.950000	0.56595	0.459000	0.35465	TAT		0.622	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		29	227	0	0	0	1	0	29	227				
PHIP	55023	broad.mit.edu	37	6	79655791	79655791	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:79655791C>A	ENST00000275034.4	-	38	4724	c.4557G>T	c.(4555-4557)gaG>gaT	p.E1519D	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1519					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TAGATGGTTGCTCAGTGACAA	0.408																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(4555-4557)gaG>gaT		pleckstrin homology domain interacting protein							146.0	128.0	134.0					6																	79655791		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79655791C>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4557G>T	6.37:g.79655791C>A	ENSP00000275034:p.Glu1519Asp					PHIP_ENST00000479165.1_5'UTR	p.E1519D	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	38	4724	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1519					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.4557G>T	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679521	0.47886	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.42131	0.98	5.96	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.34395	0.0896	L	0.27053	0.805	0.43065	D	0.994696	D;D	0.58970	0.984;0.984	D;D	0.68192	0.956;0.956	T	0.13710	-1.0499	9	.	.	.	-15.7464	11.8276	0.52275	0.0:0.8597:0.0:0.1403	.	1519;1519	A7J992;Q8WWQ0	.;PHIP_HUMAN	D	1519;245	ENSP00000275034:E1519D	.	E	-	3	2	PHIP	79712510	0.996000	0.38824	1.000000	0.80357	0.809000	0.45718	0.242000	0.18087	0.860000	0.35481	0.655000	0.94253	GAG		0.408	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			14	75	1	0	1.49906e-05	1	1.67236e-05	14	75				
AQP9	366	broad.mit.edu	37	15	58471425	58471425	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr15:58471425C>T	ENST00000219919.4	+	5	964	c.594C>T	c.(592-594)ctC>ctT	p.L198L	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Silent_p.L133L|AQP9_ENST00000536493.1_Silent_p.L198L	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	198					amine transport (GO:0015837)|canalicular bile acid transport (GO:0015722)|carboxylic acid transport (GO:0046942)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|glycerol transport (GO:0015793)|immune response (GO:0006955)|metabolic process (GO:0008152)|polyol transport (GO:0015791)|purine nucleobase transport (GO:0006863)|pyrimidine nucleobase transport (GO:0015855)|pyrimidine-containing compound transmembrane transport (GO:0072531)|response to mercury ion (GO:0046689)|response to organic substance (GO:0010033)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water homeostasis (GO:0030104)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carboxylic acid transmembrane transporter activity (GO:0046943)|glycerol channel activity (GO:0015254)|polyol transmembrane transporter activity (GO:0015166)|porin activity (GO:0015288)|purine nucleobase transmembrane transporter activity (GO:0005345)|pyrimidine nucleobase transmembrane transporter activity (GO:0005350)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CCATCGGCCTCCTGATTATTG	0.547																																						ENST00000219919.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21						c.(592-594)ctC>ctT		aquaporin 9							94.0	84.0	87.0					15																	58471425		2192	4292	6484	SO:0001819	synonymous_variant	366				cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	g.chr15:58471425C>T	AF016495	CCDS10165.1	15q	2005-09-20			ENSG00000103569	ENSG00000103569		"""Ion channels / Aquaporins"""	643	protein-coding gene	gene with protein product		602914					Standard	NM_020980		Approved	SSC1, HsT17287	uc002aez.2	O43315	OTTHUMG00000132631	ENST00000219919.4:c.594C>T	15.37:g.58471425C>T						ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000536493.1_Silent_p.L198L|AQP9_ENST00000558772.1_Silent_p.L133L	p.L198L	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN		GBM - Glioblastoma multiforme(80;0.16)	5	964	+			198					Q9NP32	Silent	SNP	ENST00000219919.4	37	c.594C>T	CCDS10165.1																																																																																				0.547	AQP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255878.2	NM_020980		8	62	0	0	0	1	0	8	62				
EZH2	2146	broad.mit.edu	37	7	148529746	148529746	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:148529746G>A	ENST00000460911.1	-	4	431	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	EZH2_ENST00000476773.1_Missense_Mutation_p.P106S|EZH2_ENST00000320356.2_Missense_Mutation_p.P115S|EZH2_ENST00000541220.1_Missense_Mutation_p.P106S|EZH2_ENST00000350995.2_Intron|EZH2_ENST00000478654.1_Missense_Mutation_p.P106S|EZH2_ENST00000483967.1_Missense_Mutation_p.P106S|EZH2_ENST00000536783.1_Missense_Mutation_p.P6S			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	115	Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TGCTGTAGGGGAGACCAAGAA	0.338			Mis		DLBCL																																	ENST00000320356.2				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359						c.(343-345)Ccc>Tcc		enhancer of zeste homolog 2 (Drosophila)							93.0	102.0	99.0					7																	148529746		2203	4300	6503	SO:0001583	missense	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148529746G>A		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.343C>T	7.37:g.148529746G>A	ENSP00000419711:p.Pro115Ser					EZH2_ENST00000483967.1_Missense_Mutation_p.P106S|EZH2_ENST00000350995.2_Intron|EZH2_ENST00000478654.1_Missense_Mutation_p.P106S|EZH2_ENST00000541220.1_Missense_Mutation_p.P106S|EZH2_ENST00000460911.1_Missense_Mutation_p.P115S|EZH2_ENST00000476773.1_Missense_Mutation_p.P106S|EZH2_ENST00000536783.1_Missense_Mutation_p.P6S	p.P115S	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		4	464	-	Melanoma(164;0.15)		115			Interaction with DNMT1, DNMT3A and DNMT3B.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.343C>T	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762221	0.69763	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000541220;ENST00000476773;ENST00000483967;ENST00000536783	D;D;D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55;-2.55;-2.55	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.93009	0.7775	M	0.86953	2.85	0.80722	D	1	B;B;B;B;B	0.28667	0.219;0.127;0.096;0.026;0.003	B;B;B;B;B	0.39805	0.042;0.12;0.31;0.081;0.014	D	0.92069	0.5663	10	0.72032	D	0.01	.	19.8041	0.96521	0.0:0.0:1.0:0.0	.	115;106;106;115;115	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-2	.;.;.;EZH2_HUMAN;.	S	106;115;115;106;106;106;6	ENSP00000417062:P106S;ENSP00000320147:P115S;ENSP00000419711:P115S;ENSP00000443219:P106S;ENSP00000419050:P106S;ENSP00000419856:P106S;ENSP00000439305:P6S	ENSP00000320147:P115S	P	-	1	0	EZH2	148160679	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.556000	0.98127	2.748000	0.94277	0.591000	0.81541	CCC		0.338	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		4	54	0	0	0	1	0	4	54				
UNC79	57578	broad.mit.edu	37	14	94156479	94156479	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr14:94156479G>T	ENST00000393151.2	+	46	7219	c.7219G>T	c.(7219-7221)Gag>Tag	p.E2407*	UNC79_ENST00000256339.4_Nonsense_Mutation_p.E2230*|UNC79_ENST00000553484.1_Nonsense_Mutation_p.E2429*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.E2368*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2407					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGAATTCATTGAGTGTGTCTC	0.453																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(7285-7287)Gag>Tag		unc-79 homolog (C. elegans)							168.0	150.0	156.0					14																	94156479		2203	4300	6503	SO:0001587	stop_gained	57578					integral to membrane		g.chr14:94156479G>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7219G>T	14.37:g.94156479G>T	ENSP00000376858:p.Glu2407*					UNC79_ENST00000393151.2_Nonsense_Mutation_p.E2407*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.E2368*|UNC79_ENST00000256339.4_Nonsense_Mutation_p.E2230*	p.E2429*			Q9P2D8	UNC79_HUMAN			47	7439	+			2407					B5MDL6|Q6ZUT7	Nonsense_Mutation	SNP	ENST00000393151.2	37	c.7285G>T		.	.	.	.	.	.	.	.	.	.	G	49	15.470343	0.99835	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-25.0428	20.5632	0.99335	0.0:0.0:1.0:0.0	.	.	.	.	X	2230;2368;2429;2407;2429	.	ENSP00000256339:E2230X	E	+	1	0	KIAA1409	93226232	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.813000	0.99286	2.937000	0.99478	0.650000	0.86243	GAG		0.453	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		12	80	1	0	0.000151284	1	0.000165897	12	80				
PPL	5493	broad.mit.edu	37	16	4934533	4934533	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr16:4934533T>A	ENST00000345988.2	-	22	4212	c.4123A>T	c.(4123-4125)Atc>Ttc	p.I1375F	PPL_ENST00000590782.2_Missense_Mutation_p.I1373F	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1375					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCCACATCGATGCTCTCGGCA	0.682																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(4123-4125)Atc>Ttc		periplakin							85.0	92.0	90.0					16																	4934533		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934533T>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4123A>T	16.37:g.4934533T>A	ENSP00000340510:p.Ile1375Phe					PPL_ENST00000590782.2_Missense_Mutation_p.I1373F	p.I1375F	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	4212	-			1375					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.4123A>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.489242	0.44249	.	.	ENSG00000118898	ENST00000345988	T	0.41758	0.99	5.46	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.60005	-0.7347	10	0.66056	D	0.02	.	10.7495	0.46200	0.0:0.0743:0.0:0.9257	.	1375	O60437	PEPL_HUMAN	F	1375	ENSP00000340510:I1375F	ENSP00000340510:I1375F	I	-	1	0	PPL	4874534	1.000000	0.71417	0.995000	0.50966	0.048000	0.14542	6.255000	0.72466	2.082000	0.62665	0.533000	0.62120	ATC		0.682	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		14	218	0	0	0	1	0	14	218				
SUPV3L1	6832	broad.mit.edu	37	10	70958211	70958211	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:70958211C>T	ENST00000359655.4	+	9	1167	c.1107C>T	c.(1105-1107)tgC>tgT	p.C369C		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	369	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGGGGACTGCATTGTCTGTT	0.428																																						ENST00000359655.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1105-1107)tgC>tgT		suppressor of var1, 3-like 1 (S. cerevisiae)							186.0	183.0	184.0					10																	70958211		2203	4300	6503	SO:0001819	synonymous_variant	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70958211C>T	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.1107C>T	10.37:g.70958211C>T							p.C369C	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN			9	1167	+			369			Helicase C-terminal.		A8K301|O43630	Silent	SNP	ENST00000359655.4	37	c.1107C>T	CCDS7287.1																																																																																				0.428	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		9	149	0	0	0	1	0	9	149				
SIPA1L2	57568	broad.mit.edu	37	1	232561533	232561533	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:232561533A>G	ENST00000366630.1	-	17	4790	c.4432T>C	c.(4432-4434)Tct>Cct	p.S1478P	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S1478P|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.S552P			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1478					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTCCTTGGAGACAGGTTCCCA	0.527																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(4432-4434)Tct>Cct		signal-induced proliferation-associated 1 like 2							52.0	59.0	57.0					1																	232561533		2096	4233	6329	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232561533A>G	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4432T>C	1.37:g.232561533A>G	ENSP00000355589:p.Ser1478Pro					SIPA1L2_ENST00000308942.4_Missense_Mutation_p.S552P|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S1478P	p.S1478P			Q9P2F8	SI1L2_HUMAN			17	4790	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1478					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.4432T>C	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.745329	0.89663	.	.	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.41758	0.99;0.99;0.99	5.66	5.66	0.87406	.	0.177406	0.51477	D	0.000098	T	0.59459	0.2195	L	0.51914	1.62	0.58432	D	0.999999	B;D	0.89917	0.135;1.0	B;D	0.85130	0.069;0.997	T	0.57723	-0.7762	10	0.44086	T	0.13	-24.8745	16.1988	0.82053	1.0:0.0:0.0:0.0	.	1478;552	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	P	1478;1478;552	ENSP00000355589:S1478P;ENSP00000262861:S1478P;ENSP00000309102:S552P	ENSP00000262861:S1478P	S	-	1	0	SIPA1L2	230628156	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.910000	0.92685	2.284000	0.76573	0.528000	0.53228	TCT		0.527	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		4	21	0	0	0	1	0	4	21				
GAL3ST3	89792	broad.mit.edu	37	11	65810593	65810593	+	Silent	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:65810593G>T	ENST00000312006.4	-	3	962	c.681C>A	c.(679-681)ctC>ctA	p.L227L	GAL3ST3_ENST00000527878.1_Silent_p.L227L	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	227					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						CCTGGCGGATGAGGCCCGCCA	0.667																																						ENST00000312006.4																			0				kidney(1)|lung(9)|ovary(2)|skin(2)	14						c.(679-681)ctC>ctA		galactose-3-O-sulfotransferase 3							28.0	35.0	33.0					11																	65810593		2197	4281	6478	SO:0001819	synonymous_variant	89792				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr11:65810593G>T	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.681C>A	11.37:g.65810593G>T						GAL3ST3_ENST00000527878.1_Silent_p.L227L	p.L227L	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN			3	962	-			227					Q14D05	Silent	SNP	ENST00000312006.4	37	c.681C>A	CCDS8128.1																																																																																				0.667	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		14	50	1	0	7.93312e-07	1	9.00643e-07	14	50				
SUV420H1	51111	broad.mit.edu	37	11	67957513	67957513	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:67957513C>T	ENST00000304363.4	-	2	384	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	SUV420H1_ENST00000402185.2_Missense_Mutation_p.V11M|SUV420H1_ENST00000401547.2_Missense_Mutation_p.V11M|SUV420H1_ENST00000405515.1_Missense_Mutation_p.V11M|SUV420H1_ENST00000402789.1_Missense_Mutation_p.V11M	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	11					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CCATTCACCACCATGATCTTG	0.458																																						ENST00000304363.4																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(31-33)Gtg>Atg		suppressor of variegation 4-20 homolog 1 (Drosophila)							280.0	242.0	255.0					11																	67957513		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67957513C>T	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.31G>A	11.37:g.67957513C>T	ENSP00000305899:p.Val11Met					SUV420H1_ENST00000405515.1_Missense_Mutation_p.V11M|SUV420H1_ENST00000402789.1_Missense_Mutation_p.V11M|SUV420H1_ENST00000402185.2_Missense_Mutation_p.V11M|SUV420H1_ENST00000401547.2_Missense_Mutation_p.V11M	p.V11M	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN			2	384	-			11					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.31G>A	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122442	0.94429	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000434573	T;T;T;T;T;T	0.59772	0.83;0.83;0.83;0.83;0.24;0.83	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.72145	0.3424	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.89917	0.99;0.998;0.999;1.0	D;D;D;D	0.87578	0.969;0.991;0.996;0.998	T	0.72491	-0.4277	10	0.87932	D	0	-26.1282	20.3559	0.98840	0.0:1.0:0.0:0.0	.	11;11;11;11	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	M	11	ENSP00000305899:V11M;ENSP00000385965:V11M;ENSP00000385640:V11M;ENSP00000385005:V11M;ENSP00000384724:V11M;ENSP00000402921:V11M	ENSP00000305899:V11M	V	-	1	0	SUV420H1	67714089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.309000	0.78937	2.890000	0.99128	0.585000	0.79938	GTG		0.458	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		30	205	0	0	0	1	0	30	205				
ELTD1	64123	broad.mit.edu	37	1	79383343	79383343	+	Silent	SNP	T	T	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:79383343T>A	ENST00000370742.3	-	12	1788	c.1725A>T	c.(1723-1725)atA>atT	p.I575I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	575					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ATGCTGGTCCTATAAAACTCC	0.294																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(1723-1725)atA>atT		EGF, latrophilin and seven transmembrane domain containing 1							55.0	52.0	53.0					1																	79383343		1798	4060	5858	SO:0001819	synonymous_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79383343T>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1725A>T	1.37:g.79383343T>A							p.I575I	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	12	1788	-			575					B1AR71|Q5KU34	Silent	SNP	ENST00000370742.3	37	c.1725A>T	CCDS41352.1																																																																																				0.294	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		3	23	0	0	0	1	0	3	23				
LILRP2	79166	broad.mit.edu	37	19	55221869	55221869	+	RNA	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:55221869C>T	ENST00000413439.1	+	0	1415									leukocyte immunoglobulin-like receptor pseudogene 2																		CAGCCCCTCACCCATCCTTCT	0.632																																					Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			79166							g.chr19:55221869C>T	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221869C>T														0	1415	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.632	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		9	40	0	0	0	1	0	9	40				
ARHGAP6	395	broad.mit.edu	37	X	11308556	11308556	+	Intron	SNP	T	T	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chrX:11308556T>C	ENST00000337414.4	-	2	1461				ARHGAP6_ENST00000413512.3_Intron|AMELX_ENST00000380714.3_5'Flank|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.M211V|ARHGAP6_ENST00000380718.1_Intron|AMELX_ENST00000348912.4_5'Flank|AMELX_ENST00000380712.3_5'Flank|ARHGAP6_ENST00000380736.1_Intron	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6						actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCGGAATTCATCGGTGGTTTT	0.388																																						ENST00000380732.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(631-633)Atg>Gtg		Rho GTPase activating protein 6							141.0	133.0	135.0					X																	11308556		1845	4086	5931	SO:0001627	intron_variant	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11308556T>C	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.589-35729A>G	X.37:g.11308556T>C						ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380718.1_Intron	p.M211V			O43182	RHG06_HUMAN			2	630	-			196					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.631A>G	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	T	6.885	0.532680	0.13127	.	.	ENSG00000047648	ENST00000380717;ENST00000380732	T;T	0.21031	2.03;2.09	3.16	1.96	0.26148	.	.	.	.	.	T	0.10766	0.0263	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36601	-0.9741	6	0.15952	T	0.53	.	4.9844	0.14182	0.2704:0.0:0.0:0.7296	.	.	.	.	V	15;211	ENSP00000370093:M15V;ENSP00000370108:M211V	ENSP00000370093:M15V	M	-	1	0	ARHGAP6	11218477	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.243000	0.18106	0.437000	0.26423	0.417000	0.27973	ATG		0.388	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		12	54	0	0	0	1	0	12	54				
PRPF18	8559	broad.mit.edu	37	10	13658406	13658406	+	Silent	SNP	T	T	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:13658406T>C	ENST00000378572.3	+	9	961	c.801T>C	c.(799-801)gaT>gaC	p.D267D		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	267					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						AGGCAAATGATGCTTATCTTC	0.418																																						ENST00000378572.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						c.(799-801)gaT>gaC		pre-mRNA processing factor 18							142.0	134.0	137.0					10																	13658406		2203	4300	6503	SO:0001819	synonymous_variant	8559				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex		g.chr10:13658406T>C	U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"""PRP18 pre-mRNA processing factor 18 homolog (yeast)"", ""PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"""			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.801T>C	10.37:g.13658406T>C							p.D267D	NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN			9	961	+			267					Q5T9P9|Q9BUI9	Silent	SNP	ENST00000378572.3	37	c.801T>C	CCDS7100.1																																																																																				0.418	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1			7	61	0	0	0	1	0	7	61				
SNHG14	104472715	broad.mit.edu	37	15	25463924	25463924	+	RNA	SNP	C	C	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr15:25463924C>A	ENST00000424208.1	+	0	2994				SNORD115-27_ENST00000364430.1_RNA|SNHG14_ENST00000365067.1_RNA|SNHG14_ENST00000453082.2_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GACCTGGGACCTGGTGGCTCT	0.592																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25463924C>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25463924C>A						SNHG14_ENST00000453082.2_RNA		NR_003305.1						0	2994	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.592	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			9	104	1	0	0.0477658	1	0.04852	9	104				
POLR1E	64425	broad.mit.edu	37	9	37486629	37486629	+	Silent	SNP	C	C	G	rs192323920	byFrequency	TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr9:37486629C>G	ENST00000377792.3	+	1	480	c.192C>G	c.(190-192)gtC>gtG	p.V64V	POLR1E_ENST00000377798.4_Intron|POLR1E_ENST00000442009.2_Intron			O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		ACAGTCTAGTCCCACCgtaca	0.552													C|||	330	0.0658946	0.0045	0.2046	5008	,	,		8378	0.006		0.1153	False		,,,				2504	0.0613				Ovarian(116;843 1620 18506 32459 34463)	ENST00000377792.3																			0				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12						c.(190-192)gtC>gtG		polymerase (RNA) I polypeptide E, 53kDa																																				SO:0001819	synonymous_variant	64425				rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr9:37486629C>G	AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"""RNA polymerase subunits"""	17631	protein-coding gene	gene with protein product	"""RNA polymerase I associated factor 53"""		"""polymerase (RNA) I associated factor 1"""	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377792.3:c.192C>G	9.37:g.37486629C>G						POLR1E_ENST00000377798.4_Intron|POLR1E_ENST00000442009.2_Intron	p.V64V			Q9GZS1	RPA49_HUMAN		GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)	1	480	+			64					O75395|Q5JTE3	Silent	SNP	ENST00000377792.3	37	c.192C>G																																																																																					0.552	POLR1E-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052465.1	NM_022490		4	56	0	0	0	1	0	4	56				
KIAA0355	9710	broad.mit.edu	37	19	34791586	34791586	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:34791586A>C	ENST00000299505.6	+	2	1081	c.208A>C	c.(208-210)Act>Cct	p.T70P		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	70										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CATGCCCCACACTACTCCTAT	0.622																																						ENST00000299505.6																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(208-210)Act>Cct		KIAA0355							66.0	57.0	60.0					19																	34791586		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34791586A>C		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.208A>C	19.37:g.34791586A>C	ENSP00000299505:p.Thr70Pro						p.T70P	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			2	1081	+	Esophageal squamous(110;0.162)		70					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.208A>C	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.724703	0.30593	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.1	2.75	0.32379	.	0.107679	0.64402	D	0.000006	T	0.40119	0.1104	L	0.27053	0.805	0.36424	D	0.864489	B	0.29162	0.235	B	0.37304	0.246	T	0.47368	-0.9123	9	0.87932	D	0	-3.5794	5.7404	0.18089	0.5092:0.0:0.1194:0.3714	.	70	O15063	K0355_HUMAN	P	70	.	ENSP00000299505:T70P	T	+	1	0	KIAA0355	39483426	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	3.511000	0.53400	0.882000	0.36016	-0.384000	0.06662	ACT		0.622	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		13	62	0	0	0	1	0	13	62				
PRAME	23532	broad.mit.edu	37	22	22892727	22892727	+	Missense_Mutation	SNP	C	C	T	rs201783997		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr22:22892727C>T	ENST00000398741.1	-	5	680	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	PRAME_ENST00000539862.1_Missense_Mutation_p.R109Q|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000405655.3_Missense_Mutation_p.R125Q|PRAME_ENST00000398743.2_Missense_Mutation_p.R125Q|PRAME_ENST00000424204.2_Missense_Mutation_p.R109Q|PRAME_ENST00000543184.1_Missense_Mutation_p.R125Q|PRAME_ENST00000402697.1_Missense_Mutation_p.R125Q	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	125					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AGAGTTCTTCCGTAAATCCAG	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		18192	0.0		0.0	False		,,,				2504	0.001				Melanoma(73;1707 1838 15168 27201)	ENST00000543184.1																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(373-375)cGg>cAg		preferentially expressed antigen in melanoma							74.0	75.0	74.0					22																	22892727		2203	4300	6503	SO:0001583	missense	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22892727C>T	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.374G>A	22.37:g.22892727C>T	ENSP00000381726:p.Arg125Gln					PRAME_ENST00000539862.1_Missense_Mutation_p.R109Q|PRAME_ENST00000402697.1_Missense_Mutation_p.R125Q|PRAME_ENST00000405655.3_Missense_Mutation_p.R125Q|PRAME_ENST00000424204.2_Missense_Mutation_p.R109Q|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000398743.2_Missense_Mutation_p.R125Q|PRAME_ENST00000398741.1_Missense_Mutation_p.R125Q	p.R125Q	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	4	1236	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	125					B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	c.374G>A	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	.	10.03	1.237611	0.22711	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204;ENST00000439106;ENST00000420709	T;T;T;T;T;T;T;T;T	0.05199	3.48;3.48;3.48;3.48;3.48;3.48;3.48;3.48;3.48	3.4	2.29	0.28610	.	0.193603	0.32918	N	0.005492	T	0.11367	0.0277	M	0.74467	2.265	0.09310	N	0.999992	D	0.64830	0.994	P	0.50082	0.63	T	0.10314	-1.0635	10	0.36615	T	0.2	.	5.7959	0.18387	0.0:0.8324:0.0:0.1676	.	125	P78395	PRAME_HUMAN	Q	125;125;125;125;109;125;109;125;125	ENSP00000381728:R125Q;ENSP00000445675:R125Q;ENSP00000381726:R125Q;ENSP00000384343:R125Q;ENSP00000445097:R109Q;ENSP00000385198:R125Q;ENSP00000407342:R109Q;ENSP00000407320:R125Q;ENSP00000412318:R125Q	ENSP00000381726:R125Q	R	-	2	0	PRAME	21222727	0.752000	0.28338	0.339000	0.25562	0.040000	0.13550	1.128000	0.31369	0.875000	0.35847	0.561000	0.74099	CGG		0.453	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		5	84	0	0	0	1	0	5	84				
XRRA1	143570	broad.mit.edu	37	11	74559263	74559263	+	Missense_Mutation	SNP	C	C	G	rs143922076		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:74559263C>G	ENST00000340360.6	-	15	1932	c.1601G>C	c.(1600-1602)aGt>aCt	p.S534T	XRRA1_ENST00000321448.8_Missense_Mutation_p.S259T|RN7SL239P_ENST00000490061.2_RNA|XRRA1_ENST00000527087.1_Missense_Mutation_p.S447T	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGTCTCTTCACTATGCACAGT	0.587																																						ENST00000340360.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						c.(1600-1602)aGt>aCt		X-ray radiation resistance associated 1							76.0	81.0	79.0					11																	74559263		2169	4257	6426	SO:0001583	missense	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74559263C>G	AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.1601G>C	11.37:g.74559263C>G	ENSP00000339918:p.Ser534Thr					XRRA1_ENST00000527087.1_Missense_Mutation_p.S447T|XRRA1_ENST00000321448.8_Missense_Mutation_p.S259T	p.S534T	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN			15	1932	-			534						Missense_Mutation	SNP	ENST00000340360.6	37	c.1601G>C	CCDS44680.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.757133	0.31137	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	T;T;T	0.49432	0.79;1.52;0.78	5.02	2.99	0.34606	.	0.366402	0.29529	N	0.011890	T	0.40372	0.1114	L	0.50333	1.59	0.09310	N	1	B;P;P;B;B;B;B	0.51537	0.01;0.946;0.75;0.119;0.037;0.319;0.037	B;B;B;B;B;B;B	0.43155	0.005;0.41;0.271;0.062;0.022;0.069;0.022	T	0.26467	-1.0102	10	0.23891	T	0.37	-10.7882	11.2044	0.48760	0.0:0.6394:0.3606:0.0	.	534;136;90;447;478;144;520	Q6P2D8;B3KRF2;E9PP69;Q6P2D8-2;Q6P2D8-4;Q8TEH2;Q6P2D8-3	XRRA1_HUMAN;.;.;.;.;.;.	T	534;259;520;478;447	ENSP00000339918:S534T;ENSP00000319303:S259T;ENSP00000435838:S447T	ENSP00000319303:S259T	S	-	2	0	XRRA1	74236911	0.234000	0.23783	0.461000	0.27105	0.588000	0.36517	1.310000	0.33551	1.454000	0.47793	-0.274000	0.10170	AGT		0.587	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384715.1	NM_182969		11	37	0	0	0	1	0	11	37				
APBA2	321	broad.mit.edu	37	15	29346522	29346522	+	Silent	SNP	G	G	A	rs372287836		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr15:29346522G>A	ENST00000558402.1	+	5	1034	c.435G>A	c.(433-435)gcG>gcA	p.A145A	APBA2_ENST00000558259.1_Silent_p.A145A|APBA2_ENST00000558330.1_Silent_p.A145A|APBA2_ENST00000411764.1_Silent_p.A145A|APBA2_ENST00000561069.1_Silent_p.A145A			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	145					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CGGACTCGGCGGGCCCGCACC	0.672																																						ENST00000558402.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(433-435)gcG>gcA		amyloid beta (A4) precursor protein-binding, family A, member 2		G	,	1,4405	2.1+/-5.4	0,1,2202	49.0	46.0	47.0		435,435	-10.5	0.0	15		47	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	APBA2	NM_001130414.1,NM_005503.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	145/738,145/750	29346522	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	321				nervous system development|protein transport		protein binding	g.chr15:29346522G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.435G>A	15.37:g.29346522G>A						APBA2_ENST00000558330.1_Silent_p.A145A|APBA2_ENST00000411764.1_Silent_p.A145A|APBA2_ENST00000561069.1_Silent_p.A145A|APBA2_ENST00000558259.1_Silent_p.A145A	p.A145A			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	5	1034	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	145					E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	c.435G>A	CCDS10022.1																																																																																				0.672	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		10	57	0	0	0	1	0	10	57				
CHD7	55636	broad.mit.edu	37	8	61712984	61712984	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr8:61712984A>T	ENST00000423902.2	+	5	2755	c.2276A>T	c.(2275-2277)tAc>tTc	p.Y759F	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.Y759F	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	759					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGAAAGCGCTACACTGAAGAC	0.478																																						ENST00000423902.2																			1	Insertion - In frame(1)	p.556_871dup(1)	lung(1)	NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(2275-2277)tAc>tTc		chromodomain helicase DNA binding protein 7							53.0	53.0	53.0					8																	61712984		1997	4195	6192	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61712984A>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2276A>T	8.37:g.61712984A>T	ENSP00000392028:p.Tyr759Phe					CHD7_ENST00000525508.1_Missense_Mutation_p.Y759F|CHD7_ENST00000524602.1_Intron	p.Y759F	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		5	2755	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	759					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.2276A>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.706962	0.89018	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	T;T	0.66099	-0.19;-0.19	5.3	5.3	0.74995	.	0.000000	0.46145	D	0.000310	T	0.71350	0.3329	L	0.36672	1.1	0.53005	D	0.999966	D	0.69078	0.997	D	0.81914	0.995	T	0.74896	-0.3508	10	0.87932	D	0	-13.2695	15.2853	0.73822	1.0:0.0:0.0:0.0	.	759	Q9P2D1	CHD7_HUMAN	F	759	ENSP00000392028:Y759F;ENSP00000436027:Y759F	ENSP00000307304:Y759F	Y	+	2	0	CHD7	61875538	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	8.788000	0.91834	1.995000	0.58328	0.533000	0.62120	TAC		0.478	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		4	20	0	0	0	1	0	4	20				
SMCHD1	23347	broad.mit.edu	37	18	2728467	2728467	+	Missense_Mutation	SNP	G	G	A	rs374128267		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr18:2728467G>A	ENST00000320876.6	+	23	3124	c.2786G>A	c.(2785-2787)cGa>cAa	p.R929Q	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.R929Q|SMCHD1_ENST00000609587.1_3'UTR	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	929					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CACCCTCGTCGACTGAAAGTG	0.318																																						ENST00000320876.6																			0				NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						c.(2785-2787)cGa>cAa		structural maintenance of chromosomes flexible hinge domain containing 1		G	GLN/ARG	0,3618		0,0,1809	72.0	65.0	67.0		2786	-1.0	0.5	18		67	1,8137		0,1,4068	no	missense	SMCHD1	NM_015295.2	43	0,1,5877	AA,AG,GG		0.0123,0.0,0.0085	benign	929/2006	2728467	1,11755	1809	4069	5878	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2728467G>A	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.2786G>A	18.37:g.2728467G>A	ENSP00000326603:p.Arg929Gln					SMCHD1_ENST00000261598.8_Missense_Mutation_p.R929Q|RP11-703M24.5_ENST00000583546.1_RNA	p.R929Q	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN			23	3124	+			929					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.2786G>A	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	G	5.516	0.280238	0.10458	0.0	1.23E-4	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.21543	2.0;2.0	5.84	-1.04	0.10068	.	0.817658	0.11320	N	0.576106	T	0.08802	0.0218	N	0.03115	-0.41	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.36504	-0.9745	10	0.22109	T	0.4	-0.456	11.9591	0.52999	0.5488:0.0:0.4512:0.0	.	929	A6NHR9	SMHD1_HUMAN	Q	929	ENSP00000326603:R929Q;ENSP00000261598:R929Q	ENSP00000261598:R929Q	R	+	2	0	SMCHD1	2718467	0.007000	0.16637	0.515000	0.27774	0.331000	0.28603	0.340000	0.19892	-0.098000	0.12285	0.650000	0.86243	CGA		0.318	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			3	22	0	0	0	1	0	3	22				
RAD52	5893	broad.mit.edu	37	12	1039024	1039024	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:1039024G>C	ENST00000358495.3	-	5	447	c.309C>G	c.(307-309)ttC>ttG	p.F103L	RAD52_ENST00000545564.1_Missense_Mutation_p.F103L|RAD52_ENST00000536177.1_Missense_Mutation_p.F103L|RAD52_ENST00000430095.2_Missense_Mutation_p.F103L|RAD52_ENST00000539046.1_Missense_Mutation_p.F26L	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	103					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			CTCCCACGTAGAACTTGCCAT	0.547								Homologous recombination																														ENST00000358495.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(307-309)ttC>ttG	Homologous recombination	RAD52 homolog (S. cerevisiae)							253.0	237.0	243.0					12																	1039024		2203	4300	6503	SO:0001583	missense	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1039024G>C		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.309C>G	12.37:g.1039024G>C	ENSP00000351284:p.Phe103Leu					RAD52_ENST00000545564.1_Missense_Mutation_p.F103L|RAD52_ENST00000539046.1_Missense_Mutation_p.F26L|RAD52_ENST00000536177.1_Missense_Mutation_p.F103L|RAD52_ENST00000430095.2_Missense_Mutation_p.F103L	p.F103L	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		5	447	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		103					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Missense_Mutation	SNP	ENST00000358495.3	37	c.309C>G	CCDS8507.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.223045	0.79464	.	.	ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000539046;ENST00000536177;ENST00000545564;ENST00000542785;ENST00000397230	T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.55832	0.1945	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	0.983;0.99;1.0	P;P;D	0.79784	0.692;0.887;0.993	T	0.59156	-0.7507	10	0.54805	T	0.06	-6.5088	16.4887	0.84193	0.0:0.0:1.0:0.0	.	103;103;103	F5GX32;Q9Y5T7;P43351	.;.;RAD52_HUMAN	L	103;103;26;103;103;103;103	ENSP00000351284:F103L;ENSP00000387901:F103L;ENSP00000445245:F26L;ENSP00000440486:F103L;ENSP00000440268:F103L;ENSP00000441073:F103L;ENSP00000380407:F103L	ENSP00000351284:F103L	F	-	3	2	RAD52	909285	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.731000	0.68554	2.507000	0.84556	0.462000	0.41574	TTC		0.547	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		44	248	0	0	0	1	0	44	248				
ELMO1	9844	broad.mit.edu	37	7	36934615	36934615	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:36934615T>C	ENST00000310758.4	-	17	2092	c.1445A>G	c.(1444-1446)cAg>cGg	p.Q482R	ELMO1_ENST00000396045.3_Missense_Mutation_p.Q2R|ELMO1_ENST00000448602.1_Missense_Mutation_p.Q482R|ELMO1_ENST00000341056.3_Missense_Mutation_p.Q184R|ELMO1_ENST00000396040.2_Missense_Mutation_p.Q2R|ELMO1_ENST00000442504.1_Missense_Mutation_p.Q482R	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	482	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CTTCACCACCTGCATTACCTG	0.502																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1444-1446)cAg>cGg		engulfment and cell motility 1							164.0	149.0	154.0					7																	36934615		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36934615T>C	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1445A>G	7.37:g.36934615T>C	ENSP00000312185:p.Gln482Arg					ELMO1_ENST00000396045.3_Missense_Mutation_p.Q2R|ELMO1_ENST00000396040.2_Missense_Mutation_p.Q2R|ELMO1_ENST00000448602.1_Missense_Mutation_p.Q482R|ELMO1_ENST00000442504.1_Missense_Mutation_p.Q482R|ELMO1_ENST00000341056.3_Missense_Mutation_p.Q184R	p.Q482R	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			17	2092	-			482			ELMO.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.1445A>G	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	T	31	5.074501	0.94000	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.44881	1.58;0.91;1.58;0.91;1.58;1.58	5.93	5.93	0.95920	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.43211	0.1237	L	0.48642	1.525	0.80722	D	1	P	0.45212	0.853	P	0.44422	0.449	T	0.21621	-1.0240	10	0.32370	T	0.25	.	16.3766	0.83401	0.0:0.0:0.0:1.0	.	482	Q92556	ELMO1_HUMAN	R	184;2;482;386;2;482;482	ENSP00000342142:Q184R;ENSP00000379360:Q2R;ENSP00000312185:Q482R;ENSP00000379355:Q2R;ENSP00000406952:Q482R;ENSP00000394458:Q482R	ENSP00000312185:Q482R	Q	-	2	0	ELMO1	36901140	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.263000	0.75096	0.533000	0.62120	CAG		0.502	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		5	65	0	0	0	1	0	5	65				
PLEKHG3	26030	broad.mit.edu	37	14	65198159	65198159	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr14:65198159C>T	ENST00000394691.1	+	8	1077	c.930C>T	c.(928-930)cgC>cgT	p.R310R	PLEKHG3_ENST00000247226.7_Silent_p.R254R			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	310	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCACATTCCGCGTGCATCGCG	0.557																																						ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(760-762)cgC>cgT		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							82.0	74.0	77.0					14																	65198159		2203	4300	6503	SO:0001819	synonymous_variant	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65198159C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.930C>T	14.37:g.65198159C>T						PLEKHG3_ENST00000394691.1_Silent_p.R310R	p.R254R	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	6	1070	+			310			DH.		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37	c.762C>T																																																																																					0.557	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		13	73	0	0	0	1	0	13	73				
SCN10A	6336	broad.mit.edu	37	3	38753872	38753872	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:38753872A>G	ENST00000449082.2	-	22	3868	c.3869T>C	c.(3868-3870)aTc>aCc	p.I1290T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1290					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GAGCCAGAAGATGAGGCAGAC	0.527																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3868-3870)aTc>aCc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						127.0	121.0	123.0					3																	38753872		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38753872A>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3869T>C	3.37:g.38753872A>G	ENSP00000390600:p.Ile1290Thr						p.I1290T	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	22	3868	-			1290					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3869T>C	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.263775	0.80358	.	.	ENSG00000185313	ENST00000449082	D	0.98617	-5.03	4.88	4.88	0.63580	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99180	0.9716	M	0.89287	3.02	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	D	0.99316	1.0905	10	0.66056	D	0.02	.	14.6606	0.68868	1.0:0.0:0.0:0.0	.	1290	Q9Y5Y9	SCNAA_HUMAN	T	1290	ENSP00000390600:I1290T	ENSP00000390600:I1290T	I	-	2	0	SCN10A	38728876	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.139000	0.94554	2.046000	0.60703	0.454000	0.30748	ATC		0.527	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		15	89	0	0	0	1	0	15	89				
MAP2K4	6416	broad.mit.edu	37	17	12032584	12032584	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:12032584C>T	ENST00000353533.5	+	9	1083	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	MAP2K4_ENST00000415385.3_Silent_p.F351F	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	340	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CCCCGAGTTTCATCAACTTTG	0.423			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"""D, Mis, N"""	mitogen-activated protein kinase kinase 4			E			"""pancreatic, breast, colorectal"""		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|lung(1)|pancreas(1)	NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(1051-1053)ttC>ttT		mitogen-activated protein kinase kinase 4							113.0	108.0	110.0					17																	12032584		2203	4300	6503	SO:0001819	synonymous_variant	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:12032584C>T	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.1020C>T	17.37:g.12032584C>T						MAP2K4_ENST00000353533.5_Silent_p.F340F	p.F351F			P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	10	1106	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	340			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Silent	SNP	ENST00000353533.5	37	c.1053C>T	CCDS11162.1																																																																																				0.423	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			12	45	0	0	0	1	0	12	45				
BAZ1B	9031	broad.mit.edu	37	7	72912896	72912896	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:72912896G>C	ENST00000339594.4	-	4	840	c.502C>G	c.(502-504)Cag>Gag	p.Q168E	BAZ1B_ENST00000404251.1_Missense_Mutation_p.Q168E	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	168	Mediates the tyrosine-protein kinase activity.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGAGCAATCTGACTGGAGTTC	0.418																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	ENST00000339594.4																			0				NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(502-504)Cag>Gag		bromodomain adjacent to zinc finger domain, 1B							214.0	203.0	207.0					7																	72912896		2203	4300	6503	SO:0001583	missense	9031				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	g.chr7:72912896G>C	AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.502C>G	7.37:g.72912896G>C	ENSP00000342434:p.Gln168Glu					BAZ1B_ENST00000404251.1_Missense_Mutation_p.Q168E	p.Q168E	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN			4	840	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	168			Mediates the tyrosine-protein kinase activity.		B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	c.502C>G	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123936	0.37533	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.58358	0.34;0.34	5.55	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.36744	0.0978	L	0.32530	0.975	0.40925	D	0.984341	B	0.25667	0.131	B	0.27380	0.079	T	0.14254	-1.0479	10	0.06365	T	0.9	-23.2912	10.3549	0.43958	0.0:0.1464:0.7016:0.1519	.	168	Q9UIG0	BAZ1B_HUMAN	E	168	ENSP00000342434:Q168E;ENSP00000385442:Q168E	ENSP00000342434:Q168E	Q	-	1	0	BAZ1B	72550832	1.000000	0.71417	0.603000	0.28903	0.932000	0.56968	4.703000	0.61824	1.324000	0.45282	0.563000	0.77884	CAG		0.418	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408		27	170	0	0	0	1	0	27	170				
TBC1D9	23158	broad.mit.edu	37	4	141555229	141555229	+	Silent	SNP	T	T	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:141555229T>C	ENST00000442267.2	-	16	2693	c.2619A>G	c.(2617-2619)ggA>ggG	p.G873G		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	873							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GAGCAAACATTCCCTTGAACT	0.532																																						ENST00000442267.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(2617-2619)ggA>ggG		TBC1 domain family, member 9 (with GRAM domain)							73.0	75.0	75.0					4																	141555229		2110	4233	6343	SO:0001819	synonymous_variant	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141555229T>C	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.2619A>G	4.37:g.141555229T>C							p.G873G	NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN			16	2693	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	873					A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	c.2619A>G	CCDS47136.1																																																																																				0.532	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		5	51	0	0	0	1	0	5	51				
AQP4	361	broad.mit.edu	37	18	24441157	24441157	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr18:24441157C>G	ENST00000383168.4	-	3	678	c.550G>C	c.(550-552)Gat>Cat	p.D184H	AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.D162H|AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000581374.1_Missense_Mutation_p.D162H|AQP4-AS1_ENST00000579964.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	184					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CCAGTGACATCAGTCCGTTTG	0.388																																						ENST00000383168.4																			0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(550-552)Gat>Cat		aquaporin 4							114.0	107.0	110.0					18																	24441157		2203	4300	6503	SO:0001583	missense	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24441157C>G	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.550G>C	18.37:g.24441157C>G	ENSP00000372654:p.Asp184His					AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000581374.1_Missense_Mutation_p.D162H|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.D162H	p.D184H	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN			3	678	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		184					P78564	Missense_Mutation	SNP	ENST00000383168.4	37	c.550G>C	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488688	0.64074	.	.	ENSG00000171885	ENST00000383168;ENST00000440832	D	0.85339	-1.97	5.6	5.6	0.85130	Aquaporin-like (2);	0.042072	0.85682	D	0.000000	T	0.81588	0.4854	L	0.41632	1.29	0.80722	D	1	P	0.47484	0.896	B	0.39339	0.297	D	0.84359	0.0537	10	0.72032	D	0.01	.	19.621	0.95656	0.0:1.0:0.0:0.0	.	184	P55087	AQP4_HUMAN	H	184;164	ENSP00000372654:D184H	ENSP00000372654:D184H	D	-	1	0	AQP4	22695155	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.765000	0.68834	2.627000	0.88993	0.655000	0.94253	GAT		0.388	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		10	79	0	0	0	1	0	10	79				
ZNF623	9831	broad.mit.edu	37	8	144732346	144732346	+	Silent	SNP	A	A	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr8:144732346A>C	ENST00000501748.2	+	1	393	c.304A>C	c.(304-306)Aga>Cga	p.R102R	ZNF623_ENST00000526926.1_Silent_p.R62R|ZNF623_ENST00000458270.2_Silent_p.R62R	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	102					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(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAAGTCAGGAAGAAACCATAT	0.502																																						ENST00000501748.2																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(304-306)Aga>Cga		zinc finger protein 623							85.0	84.0	84.0					8																	144732346		2203	4300	6503	SO:0001819	synonymous_variant	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732346A>C	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.304A>C	8.37:g.144732346A>C						ZNF623_ENST00000526926.1_Silent_p.R62R|ZNF623_ENST00000458270.2_Silent_p.R62R	p.R102R	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	393	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		102					A4FU80|B4DGP3|E7ENV5	Silent	SNP	ENST00000501748.2	37	c.304A>C	CCDS34957.1																																																																																				0.502	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		14	131	0	0	0	1	0	14	131				
PCDHA4	56144	broad.mit.edu	37	5	140187979	140187979	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:140187979A>T	ENST00000530339.1	+	1	1207	c.1207A>T	c.(1207-1209)Aat>Tat	p.N403Y	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.N403Y|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.N403Y	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	403	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTTCAAGAATTACTACTC	0.612																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1207-1209)Aat>Tat									163.0	149.0	153.0					5																	140187979		2203	4300	6503	SO:0001583	missense	56144							g.chr5:140187979A>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1207A>T	5.37:g.140187979A>T	ENSP00000435300:p.Asn403Tyr					PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.N403Y|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.N403Y	p.N403Y	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1207	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1207A>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	a	15.22	2.770257	0.49680	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.53423	0.62;0.62;0.62	4.5	4.5	0.54988	Cadherin (4);Cadherin-like (1);	0.000000	0.43416	U	0.000579	T	0.71134	0.3304	M	0.91818	3.245	0.22888	N	0.998609	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.986;0.998;0.998	T	0.65565	-0.6137	10	0.87932	D	0	.	8.0081	0.30336	0.8353:0.0:0.1647:0.0	.	403;403;403	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	Y	403	ENSP00000423470:N403Y;ENSP00000349344:N403Y;ENSP00000435300:N403Y	ENSP00000349344:N403Y	N	+	1	0	PCDHA4	140168163	0.006000	0.16342	1.000000	0.80357	0.965000	0.64279	1.303000	0.33470	1.823000	0.53134	0.473000	0.43528	AAT		0.612	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		48	210	0	0	0	1	0	48	210				
TGFBR2	7048	broad.mit.edu	37	3	30713505	30713505	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:30713505A>T	ENST00000295754.5	+	4	1212	c.830A>T	c.(829-831)aAg>aTg	p.K277M	TGFBR2_ENST00000359013.4_Missense_Mutation_p.K302M	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	277	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GTGGCAGTCAAGATCTTTCCC	0.488																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(829-831)aAg>aTg		transforming growth factor, beta receptor II (70/80kDa)							146.0	138.0	140.0					3																	30713505		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713505A>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.830A>T	3.37:g.30713505A>T	ENSP00000295754:p.Lys277Met					TGFBR2_ENST00000359013.4_Missense_Mutation_p.K302M	p.K277M	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			4	1212	+			277			Protein kinase.		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.830A>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.208604	0.79240	.	.	ENSG00000163513	ENST00000295754;ENST00000359013	D;D	0.99089	-5.41;-5.41	5.26	5.26	0.73747	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99560	0.9842	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97804	1.0246	10	0.87932	D	0	.	15.1776	0.72927	1.0:0.0:0.0:0.0	.	277;302	P37173;D2JYI1	TGFR2_HUMAN;.	M	277;302	ENSP00000295754:K277M;ENSP00000351905:K302M	ENSP00000295754:K277M	K	+	2	0	TGFBR2	30688509	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.335000	0.96500	1.971000	0.57363	0.533000	0.62120	AAG		0.488	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			11	100	0	0	0	1	0	11	100				
SUGP2	10147	broad.mit.edu	37	19	19120694	19120694	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:19120694G>A	ENST00000601879.1	-	5	2605	c.2308C>T	c.(2308-2310)Cag>Tag	p.Q770*	SUGP2_ENST00000452918.2_Nonsense_Mutation_p.Q770*|SUGP2_ENST00000337018.6_Nonsense_Mutation_p.Q770*|SUGP2_ENST00000456085.2_Nonsense_Mutation_p.Q539*|SUGP2_ENST00000600377.1_Nonsense_Mutation_p.Q784*			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	770	Pro/Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GAAGAGGTCTGAGGTGCTTCA	0.617																																						ENST00000601879.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2308-2310)Cag>Tag		SURP and G patch domain containing 2							91.0	95.0	94.0					19																	19120694		2203	4300	6503	SO:0001587	stop_gained	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19120694G>A	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.2308C>T	19.37:g.19120694G>A	ENSP00000472286:p.Gln770*					SUGP2_ENST00000452918.2_Nonsense_Mutation_p.Q770*|SUGP2_ENST00000337018.6_Nonsense_Mutation_p.Q770*|SUGP2_ENST00000456085.2_Nonsense_Mutation_p.Q539*|SUGP2_ENST00000600377.1_Nonsense_Mutation_p.Q784*	p.Q770*			Q8IX01	SUGP2_HUMAN			5	2605	-			770			Pro/Ser-rich.		C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Nonsense_Mutation	SNP	ENST00000601879.1	37	c.2308C>T	CCDS12392.1	.	.	.	.	.	.	.	.	.	.	G	37	6.310965	0.97462	.	.	ENSG00000064607	ENST00000337018;ENST00000330854;ENST00000452918;ENST00000456085	.	.	.	5.23	1.54	0.23209	.	1.024750	0.07757	N	0.949409	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-0.7606	8.9048	0.35517	0.0:0.4314:0.399:0.1696	.	.	.	.	X	770;770;770;539	.	ENSP00000332373:Q770X	Q	-	1	0	SUGP2	18981694	0.011000	0.17503	0.058000	0.19502	0.491000	0.33493	1.106000	0.31098	0.544000	0.28883	0.655000	0.94253	CAG		0.617	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		7	103	0	0	0	1	0	7	103				
ADCY5	111	broad.mit.edu	37	3	123047530	123047530	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:123047530A>G	ENST00000462833.1	-	6	2978	c.1766T>C	c.(1765-1767)gTc>gCc	p.V589A	ADCY5_ENST00000491190.1_Missense_Mutation_p.V222A|ADCY5_ENST00000309879.5_Missense_Mutation_p.V239A	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	589	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGCTAGCGTGACATCGTTAGA	0.617											OREG0015742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000462833.1																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(1765-1767)gTc>gCc		adenylate cyclase 5							164.0	133.0	143.0					3																	123047530		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123047530A>G	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1766T>C	3.37:g.123047530A>G	ENSP00000419361:p.Val589Ala		OREG0015742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1523	ADCY5_ENST00000309879.5_Missense_Mutation_p.V239A|ADCY5_ENST00000491190.1_Missense_Mutation_p.V222A	p.V589A	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	6	2978	-			589			Guanylate cyclase 1.		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.1766T>C	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	A	34	5.391850	0.95988	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	5.38	5.38	0.77491	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000003	D	0.97424	0.9157	H	0.98996	4.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99126	1.0851	10	0.87932	D	0	.	15.4139	0.74948	1.0:0.0:0.0:0.0	.	589;222	O95622;B3KWA8	ADCY5_HUMAN;.	A	589;222;239;148	ENSP00000419361:V589A;ENSP00000418537:V222A;ENSP00000308685:V239A;ENSP00000420082:V148A	ENSP00000308685:V239A	V	-	2	0	ADCY5	124530220	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.339000	0.96797	2.046000	0.60703	0.533000	0.62120	GTC		0.617	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048		6	133	0	0	0	1	0	6	133				
OIP5	11339	broad.mit.edu	37	15	41602007	41602007	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr15:41602007G>A	ENST00000220514.3	-	5	694	c.635C>T	c.(634-636)tCa>tTa	p.S212L		NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	212					cell communication (GO:0007154)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	Cajal body (GO:0015030)|chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CTTCATTAGTGATTTTAAGCG	0.378																																						ENST00000220514.3																			0				endometrium(3)|lung(1)|urinary_tract(1)	5						c.(634-636)tCa>tTa		Opa interacting protein 5							126.0	106.0	113.0					15																	41602007		2203	4300	6503	SO:0001583	missense	11339				cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding	g.chr15:41602007G>A	AF025441	CCDS10074.1	15q14	2011-02-23			ENSG00000104147	ENSG00000104147			20300	protein-coding gene	gene with protein product	"""MIS18 kinetochore protein homolog B (S. pombe)"", ""cancer/testis antigen 86"""	606020				9466265, 17199038	Standard	NM_007280		Approved	MIS18B, hMIS18beta, CT86	uc001znp.3	O43482	OTTHUMG00000130251	ENST00000220514.3:c.635C>T	15.37:g.41602007G>A	ENSP00000220514:p.Ser212Leu						p.S212L	NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)	5	694	-		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)	212					Q96BX7	Missense_Mutation	SNP	ENST00000220514.3	37	c.635C>T	CCDS10074.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.406382	0.42715	.	.	ENSG00000104147	ENST00000220514	.	.	.	5.13	4.22	0.49857	.	0.580338	0.15797	N	0.244172	T	0.37812	0.1017	L	0.46157	1.445	0.09310	N	1	B	0.12630	0.006	B	0.14023	0.01	T	0.21381	-1.0247	9	0.15499	T	0.54	-2.0485	9.8149	0.40846	0.0937:0.0:0.9063:0.0	.	212	O43482	MS18B_HUMAN	L	212	.	ENSP00000220514:S212L	S	-	2	0	OIP5	39389299	0.003000	0.15002	0.072000	0.20136	0.439000	0.31926	0.092000	0.15066	1.520000	0.48965	0.655000	0.94253	TCA		0.378	OIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252576.2	NM_007280		4	62	0	0	0	1	0	4	62				
IGF1R	3480	broad.mit.edu	37	15	99434613	99434613	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr15:99434613G>A	ENST00000268035.6	+	3	1311	c.700G>A	c.(700-702)Gag>Aag	p.E234K	IGF1R_ENST00000558762.1_Missense_Mutation_p.E234K|RP11-654A16.1_ENST00000558736.1_RNA|IGF1R_ENST00000560432.1_3'UTR	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	234					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CTGCCACCCCGAGTGCCTGGG	0.647																																						ENST00000268035.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(700-702)Gag>Aag		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						53.0	43.0	47.0					15																	99434613		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99434613G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.700G>A	15.37:g.99434613G>A	ENSP00000268035:p.Glu234Lys					IGF1R_ENST00000560432.1_3'UTR|IGF1R_ENST00000558762.1_Missense_Mutation_p.E234K|RP11-654A16.1_ENST00000558736.1_RNA	p.E234K	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		3	1311	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		234					B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.700G>A	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954810	0.92726	.	.	ENSG00000140443	ENST00000268035	D	0.97455	-4.39	5.12	5.12	0.69794	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000019	D	0.97920	0.9316	M	0.69358	2.11	0.58432	D	0.999996	D;P	0.76494	0.999;0.905	D;P	0.63113	0.911;0.448	D	0.98132	1.0431	10	0.51188	T	0.08	.	18.9213	0.92526	0.0:0.0:1.0:0.0	.	234;234	C9J5X1;P08069	.;IGF1R_HUMAN	K	234	ENSP00000268035:E234K	ENSP00000268035:E234K	E	+	1	0	IGF1R	97252136	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.285000	0.78660	2.549000	0.85964	0.561000	0.74099	GAG		0.647	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875		5	32	0	0	0	1	0	5	32				
ZNF33A	7581	broad.mit.edu	37	10	38344133	38344133	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:38344133G>C	ENST00000458705.2	+	5	1236	c.1078G>C	c.(1078-1080)Gaa>Caa	p.E360Q	ZNF33A_ENST00000374618.3_Missense_Mutation_p.E361Q|ZNF33A_ENST00000307441.9_Missense_Mutation_p.E360Q|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.E367Q			Q06730	ZN33A_HUMAN	zinc finger protein 33A	360					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)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TCAATGTAATGAATGTGAAAA	0.413																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(1081-1083)Gaa>Caa		zinc finger protein 33A							104.0	97.0	100.0					10																	38344133		2203	4300	6503	SO:0001583	missense	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38344133G>C	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1078G>C	10.37:g.38344133G>C	ENSP00000387713:p.Glu360Gln					ZNF33A_ENST00000432900.2_Missense_Mutation_p.E367Q|ZNF33A_ENST00000307441.9_Missense_Mutation_p.E360Q|ZNF33A_ENST00000458705.2_Missense_Mutation_p.E360Q|ZNF33A_ENST00000469037.2_Intron	p.E361Q	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			5	1259	+			360					A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	ENST00000458705.2	37	c.1081G>C	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	G	0.068	-1.208658	0.01568	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.18502	3.19;2.21;3.19;3.19	2.05	2.05	0.26809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.251617	0.20824	N	0.085012	T	0.11495	0.0280	L	0.38531	1.155	0.09310	N	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.001;0.003	T	0.30563	-0.9974	10	0.13853	T	0.58	.	9.6894	0.40118	0.0:0.0:1.0:0.0	.	367;360;361	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	Q	361;367;360;360	ENSP00000363747:E361Q;ENSP00000402467:E367Q;ENSP00000387713:E360Q;ENSP00000304268:E360Q	ENSP00000304268:E360Q	E	+	1	0	ZNF33A	38384139	0.004000	0.15560	0.994000	0.49952	0.804000	0.45430	1.197000	0.32211	1.117000	0.41842	0.460000	0.39030	GAA		0.413	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		16	90	0	0	0	1	0	16	90				
RRP7A	27341	broad.mit.edu	37	22	42912067	42912067	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr22:42912067C>G	ENST00000323013.6	-	3	307	c.292G>C	c.(292-294)Gag>Cag	p.E98Q		NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	98							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						TTTGGGCTCTCAGCCAGGTCC	0.627																																						ENST00000323013.6																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(292-294)Gag>Cag		ribosomal RNA processing 7 homolog A (S. cerevisiae)							63.0	54.0	57.0					22																	42912067		2203	4300	6503	SO:0001583	missense	27341						nucleotide binding|RNA binding	g.chr22:42912067C>G	BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.292G>C	22.37:g.42912067C>G	ENSP00000321449:p.Glu98Gln						p.E98Q	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN			3	307	-			98					A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Missense_Mutation	SNP	ENST00000323013.6	37	c.292G>C	CCDS14036.1	.	.	.	.	.	.	.	.	.	.	C	9.446	1.089303	0.20390	.	.	ENSG00000189306	ENST00000323013	T	0.24723	1.84	3.93	3.93	0.45458	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.374415	0.29403	N	0.012260	T	0.23289	0.0563	L	0.39147	1.195	0.54753	D	0.999982	B	0.20550	0.046	B	0.17722	0.019	T	0.05084	-1.0907	10	0.31617	T	0.26	-22.3671	16.8128	0.85725	0.0:1.0:0.0:0.0	.	98	Q9Y3A4	RRP7A_HUMAN	Q	98	ENSP00000321449:E98Q	ENSP00000321449:E98Q	E	-	1	0	RRP7A	41242011	0.997000	0.39634	0.608000	0.28969	0.004000	0.04260	5.020000	0.64066	2.124000	0.65301	0.514000	0.50259	GAG		0.627	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320451.1	NM_015703		9	44	0	0	0	1	0	9	44				
C12orf54	121273	broad.mit.edu	37	12	48888659	48888659	+	Silent	SNP	A	A	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:48888659A>G	ENST00000548364.1	+	7	378	c.321A>G	c.(319-321)ggA>ggG	p.G107G	C12orf54_ENST00000314014.2_Silent_p.G107G|RP11-722P11.4_ENST00000551847.1_RNA			Q6X4T0	CL054_HUMAN	chromosome 12 open reading frame 54	107										endometrium(1)|large_intestine(4)	5						AGCCATCAGGAGGCCGTATCC	0.483																																						ENST00000314014.2																			0				endometrium(1)|large_intestine(4)	5						c.(319-321)ggA>ggG		chromosome 12 open reading frame 54							156.0	145.0	149.0					12																	48888659		2203	4300	6503	SO:0001819	synonymous_variant	121273							g.chr12:48888659A>G	BC031670	CCDS8764.1	12q13.11	2011-01-31			ENSG00000177627	ENSG00000177627			28553	protein-coding gene	gene with protein product						12477932	Standard	NM_152319		Approved	MGC35033	uc001rrr.3	Q6X4T0	OTTHUMG00000170019	ENST00000548364.1:c.321A>G	12.37:g.48888659A>G						C12orf54_ENST00000548364.1_Silent_p.G107G|RP11-722P11.4_ENST00000551847.1_RNA	p.G107G	NM_152319.3	NP_689532.1	Q6X4T0	CL054_HUMAN			8	452	+			107					Q6X4S9|Q8N5S2	Silent	SNP	ENST00000548364.1	37	c.321A>G	CCDS8764.1																																																																																				0.483	C12orf54-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406875.1	NM_152319		17	118	0	0	0	1	0	17	118				
EMX2	2018	broad.mit.edu	37	10	119307742	119307742	+	Silent	SNP	A	A	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:119307742A>G	ENST00000553456.3	+	3	1582	c.758A>G	c.(757-759)tAa>tGa	p.*253*	EMX2_ENST00000442245.4_3'UTR|EMX2_ENST00000546446.1_3'UTR	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	0					anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		TCAGATGATTAAAAACATAAA	0.453																																						ENST00000553456.3																			0				endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12						c.(757-759)tAa>tGa		empty spiracles homeobox 2							40.0	40.0	40.0					10																	119307742		2203	4300	6503	SO:0001819	synonymous_variant	2018					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:119307742A>G	AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.758A>G	10.37:g.119307742A>G						EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_3'UTR	p.*253*	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN		all cancers(201;0.0133)	3	1582	+		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)	0					G3V305|Q96NN8|Q9BQF4	Silent	SNP	ENST00000553456.3	37	c.758A>G	CCDS7601.1																																																																																				0.453	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050569.4	NM_004098		6	26	0	0	0	1	0	6	26				
DYRK1A	1859	broad.mit.edu	37	21	38853090	38853090	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr21:38853090G>C	ENST00000398960.2	+	4	553	c.478G>C	c.(478-480)Gaa>Caa	p.E160Q	DYRK1A_ENST00000398956.2_Missense_Mutation_p.E160Q|DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000451934.1_Missense_Mutation_p.E160Q|DYRK1A_ENST00000321219.8_Missense_Mutation_p.E160Q|DYRK1A_ENST00000338785.3_Missense_Mutation_p.E160Q|DYRK1A_ENST00000339659.4_Missense_Mutation_p.E151Q	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	160	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.E160K(2)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGATCGTTACGAAATTGACTC	0.333																																					Melanoma(114;464 1602 31203 43785 45765)	ENST00000339659.3																			2	Substitution - Missense(2)	p.E160K(2)	large_intestine(1)|endometrium(1)	breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(451-453)Gaa>Caa		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A							115.0	116.0	116.0					21																	38853090		2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38853090G>C	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.478G>C	21.37:g.38853090G>C	ENSP00000381932:p.Glu160Gln					DYRK1A_ENST00000321219.8_Missense_Mutation_p.E160Q|DYRK1A_ENST00000451934.1_Missense_Mutation_p.E160Q|DYRK1A_ENST00000398960.2_Missense_Mutation_p.E160Q|DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000398956.2_Missense_Mutation_p.E160Q|DYRK1A_ENST00000338785.3_Missense_Mutation_p.E160Q	p.E151Q	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN			4	1921	+			160					O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.451G>C	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178069	0.94846	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956	T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	5.24	5.24	0.73138	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68952	0.3057	N	0.20574	0.59	0.80722	D	1	D;D;B;B;D	0.89917	1.0;1.0;0.367;0.317;1.0	D;D;B;B;D	0.91635	0.999;0.999;0.204;0.129;0.999	T	0.72093	-0.4394	10	0.52906	T	0.07	.	19.1981	0.93698	0.0:0.0:1.0:0.0	.	160;160;160;151;160	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	Q	160;151;160;160;160;160	ENSP00000342690:E160Q;ENSP00000340373:E151Q;ENSP00000319032:E160Q;ENSP00000416089:E160Q;ENSP00000381932:E160Q;ENSP00000381929:E160Q	ENSP00000319032:E160Q	E	+	1	0	DYRK1A	37774960	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.803000	0.99136	2.615000	0.88500	0.655000	0.94253	GAA		0.333	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	NM_001396		9	42	0	0	0	1	0	9	42				
IRF8	3394	broad.mit.edu	37	16	85948094	85948094	+	Missense_Mutation	SNP	C	C	T	rs140514602		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr16:85948094C>T	ENST00000268638.5	+	6	991	c.569C>T	c.(568-570)aCg>aTg	p.T190M	IRF8_ENST00000562492.1_5'UTR	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	190					cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CCGCTGGTGACGGGGTACACC	0.587																																						ENST00000268638.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(568-570)aCg>aTg		interferon regulatory factor 8							93.0	87.0	89.0					16																	85948094		2198	4300	6498	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85948094C>T	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.569C>T	16.37:g.85948094C>T	ENSP00000268638:p.Thr190Met					IRF8_ENST00000562492.1_5'UTR	p.T190M	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN			6	991	+		Prostate(104;0.0771)	190					A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.569C>T	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	C	7.731	0.699223	0.15106	.	.	ENSG00000140968	ENST00000268638	D	0.96992	-4.2	5.0	4.05	0.47172	.	12.083200	0.00166	N	0.000000	D	0.94225	0.8146	L	0.43152	1.355	0.22639	N	0.998907	B	0.10296	0.003	B	0.09377	0.004	T	0.82723	-0.0316	10	0.45353	T	0.12	-8.5549	7.0695	0.25171	0.1802:0.7305:0.0:0.0893	.	190	Q02556	IRF8_HUMAN	M	190	ENSP00000268638:T190M	ENSP00000268638:T190M	T	+	2	0	IRF8	84505595	0.186000	0.23225	0.009000	0.14445	0.014000	0.08584	1.937000	0.40193	1.241000	0.43820	-0.137000	0.14449	ACG		0.587	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		5	52	0	0	0	1	0	5	52				
ENPEP	2028	broad.mit.edu	37	4	111397683	111397683	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:111397683G>T	ENST00000265162.5	+	1	455	c.113G>T	c.(112-114)gGc>gTc	p.G38V		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	38					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CTTGCCGTGGGCTTGACCAGA	0.602																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(112-114)gGc>gTc		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						197.0	182.0	187.0					4																	111397683		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111397683G>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.113G>T	4.37:g.111397683G>T	ENSP00000265162:p.Gly38Val						p.G38V	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	455	+		Hepatocellular(203;0.217)	38					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.113G>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.998795	0.93227	.	.	ENSG00000138792	ENST00000265162	T	0.01279	5.06	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.07593	0.0191	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53422	-0.8441	10	0.17369	T	0.5	.	19.5465	0.95299	0.0:0.0:1.0:0.0	.	38	Q07075	AMPE_HUMAN	V	38	ENSP00000265162:G38V	ENSP00000265162:G38V	G	+	2	0	ENPEP	111617132	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	9.394000	0.97261	2.625000	0.88918	0.313000	0.20887	GGC		0.602	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			14	145	1	0	2.32078e-09	1	2.71461e-09	14	145				
GRIN3B	116444	broad.mit.edu	37	19	1005279	1005279	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:1005279C>T	ENST00000234389.3	+	3	1798	c.1779C>T	c.(1777-1779)acC>acT	p.T593T	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	593					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCTTCCTCACCGTGTACGAGT	0.662																																						ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1777-1779)acC>acT		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						78.0	69.0	72.0					19																	1005279		2203	4300	6503	SO:0001819	synonymous_variant	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1005279C>T		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1779C>T	19.37:g.1005279C>T							p.T593T	NM_138690.1	NP_619635.1	O60391	NMD3B_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)	3	1798	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	593					Q5EAK7|Q7RTW9	Silent	SNP	ENST00000234389.3	37	c.1779C>T	CCDS32861.1																																																																																				0.662	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			11	67	0	0	0	1	0	11	67				
PCDH20	64881	broad.mit.edu	37	13	61986011	61986011	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr13:61986011G>T	ENST00000409186.1	-	5	4326	c.2221C>A	c.(2221-2223)Ctt>Att	p.L741I	PCDH20_ENST00000409204.4_Missense_Mutation_p.L741I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	741	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AACAAAACAAGAGGAGGGTTG	0.453																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(2221-2223)Ctt>Att		protocadherin 20							114.0	119.0	117.0					13																	61986011		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986011G>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2221C>A	13.37:g.61986011G>T	ENSP00000386653:p.Leu741Ile					PCDH20_ENST00000409204.4_Missense_Mutation_p.L741I	p.L741I			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	4326	-		Breast(118;0.195)|Prostate(109;0.229)	714			Cadherin 6.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.2221C>A	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	4.697	0.129694	0.08981	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.01629	4.72;4.72	5.94	5.94	0.96194	.	0.116020	0.36167	N	0.002755	T	0.01254	0.0041	N	0.05467	-0.045	0.33300	D	0.564732	B	0.14805	0.011	B	0.12837	0.008	T	0.44802	-0.9304	10	0.39692	T	0.17	.	8.9187	0.35599	0.079:0.0:0.7712:0.1499	.	741	A8K1K9	.	I	741;741;487	ENSP00000387250:L741I;ENSP00000386653:L741I	ENSP00000351500:L487I	L	-	1	0	PCDH20	60884012	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	2.191000	0.42640	2.812000	0.96745	0.557000	0.71058	CTT		0.453	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		24	140	1	0	3.08376e-08	1	3.56387e-08	24	140				
CBLN2	147381	broad.mit.edu	37	18	70205525	70205525	+	Silent	SNP	G	G	A	rs149543931	byFrequency	TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr18:70205525G>A	ENST00000269503.4	-	5	1334	c.561C>T	c.(559-561)ggC>ggT	p.G187G	CBLN2_ENST00000583651.1_5'UTR|CBLN2_ENST00000584764.1_Silent_p.G71G|CBLN2_ENST00000581073.1_Silent_p.G73G|CBLN2_ENST00000585159.1_Silent_p.G187G	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	187	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GCAGCAGCACGCCATTGCTAG	0.507																																						ENST00000269503.4																			0				endometrium(2)|lung(15)	17						c.(559-561)ggC>ggT		cerebellin 2 precursor		G		0,4406		0,0,2203	120.0	113.0	115.0		561	-11.0	0.0	18	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CBLN2	NM_182511.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		187/225	70205525	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	147381					integral to membrane		g.chr18:70205525G>A	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.561C>T	18.37:g.70205525G>A						CBLN2_ENST00000584764.1_Silent_p.G71G|CBLN2_ENST00000581073.1_Silent_p.G73G|CBLN2_ENST00000585159.1_Silent_p.G187G|CBLN2_ENST00000583651.1_5'UTR	p.G187G	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN			5	1334	-		Esophageal squamous(42;0.131)	187			C1q.		Q53Z56	Silent	SNP	ENST00000269503.4	37	c.561C>T	CCDS11999.1																																																																																				0.507	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		15	78	0	0	0	1	0	15	78				
PCDHB12	56124	broad.mit.edu	37	5	140589637	140589637	+	Silent	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:140589637G>A	ENST00000239450.2	+	1	1347	c.1158G>A	c.(1156-1158)ccG>ccA	p.P386P	PCDHB12_ENST00000541609.1_Silent_p.P49P	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	386	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCTATCCCGGAGGACATCC	0.468																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1156-1158)ccG>ccA									68.0	66.0	67.0					5																	140589637		2203	4300	6503	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589637G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1158G>A	5.37:g.140589637G>A						PCDHB12_ENST00000541609.1_Silent_p.P49P	p.P386P	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1347	+			386			Cadherin 4.		B4DDU1	Silent	SNP	ENST00000239450.2	37	c.1158G>A	CCDS4254.1																																																																																				0.468	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		16	59	0	0	0	1	0	16	59				
MYBPC1	4604	broad.mit.edu	37	12	102020655	102020655	+	Intron	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:102020655G>A	ENST00000550270.1	+	4	103				MYBPC1_ENST00000545503.2_Intron|MYBPC1_ENST00000553190.1_Intron|MYBPC1_ENST00000360610.2_Intron|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E37K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E37K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E11K|MYBPC1_ENST00000536007.1_Intron|MYBPC1_ENST00000452455.2_Intron|MYBPC1_ENST00000547405.1_Intron|MYBPC1_ENST00000549145.1_Missense_Mutation_p.E37K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Intron|MYBPC1_ENST00000541119.1_Intron|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000441232.1_Intron			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type						cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TTCAGATGAAGAGGAAGTCTC	0.393																																						ENST00000549145.1																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						c.(109-111)Gag>Aag		myosin binding protein C, slow type							112.0	110.0	111.0					12																	102020655		2203	4300	6503	SO:0001627	intron_variant	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102020655G>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.104-2557G>A	12.37:g.102020655G>A						MYBPC1_ENST00000536007.1_Intron|MYBPC1_ENST00000452455.2_Intron|MYBPC1_ENST00000553190.1_Intron|MYBPC1_ENST00000550270.1_Intron|MYBPC1_ENST00000541119.1_Intron|MYBPC1_ENST00000547509.1_Intron|MYBPC1_ENST00000441232.1_Intron|MYBPC1_ENST00000547405.1_Intron|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E37K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E11K|MYBPC1_ENST00000360610.2_Intron|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E37K|MYBPC1_ENST00000545503.2_Intron|MYBPC1_ENST00000551300.1_5'UTR	p.E37K			Q00872	MYPC1_HUMAN			4	209	+			35					B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.109G>A	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581280	0.28180	.	.	ENSG00000196091	ENST00000392934;ENST00000361685;ENST00000549145;ENST00000540770;ENST00000361466	T;T;T;T	0.58940	0.3;0.33;0.35;0.32	5.32	5.32	0.75619	.	0.464233	0.16208	N	0.224615	T	0.35248	0.0925	N	0.08118	0	0.80722	D	1	B;B;B;B	0.25850	0.025;0.136;0.136;0.13	B;B;B;B	0.24394	0.013;0.053;0.033;0.037	T	0.21999	-1.0229	10	0.05721	T	0.95	.	16.0758	0.80967	0.0:0.0:1.0:0.0	.	11;37;37;37	E7ESM5;G3XAE8;Q00872-2;F8VZY0	.;.;.;.	K	11;37;37;37;37	ENSP00000376665:E11K;ENSP00000354845:E37K;ENSP00000447660:E37K;ENSP00000354849:E37K	ENSP00000354849:E37K	E	+	1	0	MYBPC1	100544786	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.452000	0.66638	2.642000	0.89623	0.591000	0.81541	GAG		0.393	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			6	60	0	0	0	1	0	6	60				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		1582	Substitution - Missense(1582)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)cAt>cGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			24	71	0	0	0	1	0	24	71				
POLH	5429	broad.mit.edu	37	6	43581625	43581625	+	Missense_Mutation	SNP	G	G	C	rs142864589		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:43581625G>C	ENST00000372236.4	+	11	1768	c.1473G>C	c.(1471-1473)caG>caC	p.Q491H	POLH_ENST00000372226.1_3'UTR|POLH_ENST00000535400.1_Missense_Mutation_p.Q429H	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CAGAAAGGCAGAAAGTTAAAG	0.483								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																													ENST00000372236.4																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1471-1473)caG>caC	DNA polymerases (catalytic subunits)	polymerase (DNA directed), eta							51.0	54.0	53.0					6																	43581625		2203	4300	6503	SO:0001583	missense	5429	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr6:43581625G>C	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.1473G>C	6.37:g.43581625G>C	ENSP00000361310:p.Gln491His					POLH_ENST00000372226.1_3'UTR|POLH_ENST00000535400.1_Missense_Mutation_p.Q429H	p.Q491H	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		11	1768	+	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		491					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000372236.4	37	c.1473G>C	CCDS4902.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980523	0.34942	.	.	ENSG00000170734	ENST00000372236;ENST00000535400	T;T	0.63096	0.14;-0.02	5.62	0.666	0.17901	.	0.544735	0.21158	N	0.079201	T	0.36690	0.0976	M	0.65498	2.005	0.80722	D	1	B;B	0.19200	0.034;0.016	B;B	0.16722	0.016;0.011	T	0.25117	-1.0141	10	0.46703	T	0.11	-31.2813	5.2679	0.15609	0.2778:0.2586:0.4636:0.0	.	429;491	B4DG64;Q9Y253	.;POLH_HUMAN	H	491;429	ENSP00000361310:Q491H;ENSP00000442102:Q429H	ENSP00000361310:Q491H	Q	+	3	2	POLH	43689603	1.000000	0.71417	0.996000	0.52242	0.794000	0.44872	0.965000	0.29319	0.114000	0.18032	0.561000	0.74099	CAG		0.483	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1	NM_006502		20	83	0	0	0	1	0	20	83				
EFNB3	1949	broad.mit.edu	37	17	7612679	7612679	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:7612679G>A	ENST00000226091.2	+	5	1205	c.808G>A	c.(808-810)Ggg>Agg	p.G270R		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	270					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGGCTCCTTCGGGAGGGGAGG	0.716																																						ENST00000226091.2																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(808-810)Ggg>Agg		ephrin-B3							9.0	11.0	10.0					17																	7612679		2165	4233	6398	SO:0001583	missense	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612679G>A	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.808G>A	17.37:g.7612679G>A	ENSP00000226091:p.Gly270Arg						p.G270R	NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN			5	1205	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	270					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Missense_Mutation	SNP	ENST00000226091.2	37	c.808G>A	CCDS11120.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159626	0.57368	.	.	ENSG00000108947	ENST00000226091	D	0.89939	-2.59	5.0	3.0	0.34707	.	0.330428	0.29348	N	0.012420	D	0.83571	0.5283	N	0.08118	0	0.21290	N	0.999735	D	0.76494	0.999	P	0.56865	0.808	T	0.75619	-0.3255	10	0.72032	D	0.01	-5.7525	8.8118	0.34971	0.1847:0.0:0.8153:0.0	.	270	Q15768	EFNB3_HUMAN	R	270	ENSP00000226091:G270R	ENSP00000226091:G270R	G	+	1	0	EFNB3	7553404	1.000000	0.71417	0.993000	0.49108	0.947000	0.59692	3.213000	0.51153	1.104000	0.41587	-0.163000	0.13421	GGG		0.716	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		6	14	0	0	0	1	0	6	14				
OR6A2	8590	broad.mit.edu	37	11	6816047	6816047	+	Missense_Mutation	SNP	C	C	T	rs187052918	byFrequency	TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:6816047C>T	ENST00000332601.3	-	1	1081	c.893G>A	c.(892-894)cGc>cAc	p.R298H		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	298					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCTTGATTGCGCAGGCAGTA	0.488													C|||	2	0.000399361	0.0	0.0014	5008	,	,		21325	0.0		0.001	False		,,,				2504	0.0					ENST00000332601.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(892-894)cGc>cAc		olfactory receptor, family 6, subfamily A, member 2		C	HIS/ARG	0,4402		0,0,2201	136.0	128.0	131.0		893	2.1	0.9	11		131	1,8591	1.2+/-3.3	0,1,4295	yes	missense	OR6A2	NM_003696.2	29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	298/328	6816047	1,12993	2201	4296	6497	SO:0001583	missense	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816047C>T	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.893G>A	11.37:g.6816047C>T	ENSP00000330384:p.Arg298His						p.R298H	NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	1081	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	298					Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	ENST00000332601.3	37	c.893G>A	CCDS7772.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.53	1.965876	0.34659	0.0	1.16E-4	ENSG00000184933	ENST00000332601	T	0.41065	1.01	5.04	2.14	0.27477	.	0.000000	0.52532	D	0.000076	T	0.56673	0.2001	M	0.61703	1.905	0.24939	N	0.991867	D	0.89917	1.0	D	0.65874	0.939	T	0.52764	-0.8532	10	0.87932	D	0	.	11.7726	0.51967	0.0:0.7766:0.0:0.2234	.	298	O95222	OR6A2_HUMAN	H	298	ENSP00000330384:R298H	ENSP00000330384:R298H	R	-	2	0	OR6A2	6772623	0.149000	0.22717	0.907000	0.35723	0.167000	0.22549	3.587000	0.53957	0.131000	0.18576	-0.797000	0.03246	CGC		0.488	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		9	106	0	0	0	1	0	9	106				
KLHL7	55975	broad.mit.edu	37	7	23164844	23164844	+	Intron	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:23164844C>G	ENST00000339077.5	+	4	685				KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000322275.5_Intron|KLHL7_ENST00000409689.1_Intron|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000410047.1_Intron|KLHL7_ENST00000545443.1_Intron|KLHL7_ENST00000545771.1_Missense_Mutation_p.F143L|KLHL7_ENST00000322231.7_Intron|KLHL7_ENST00000539124.1_Intron	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7						protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCTTTATTTCTAATTTAATT	0.284																																						ENST00000545771.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(427-429)ttC>ttG		kelch-like family member 7																																				SO:0001627	intron_variant	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23164844C>G		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.442+53C>G	7.37:g.23164844C>G						KLHL7_ENST00000410047.1_Intron|KLHL7_ENST00000542558.1_Intron|KLHL7_ENST00000539124.1_Intron|KLHL7_ENST00000409689.1_Intron|KLHL7_ENST00000545443.1_Intron|KLHL7_ENST00000322275.5_Intron|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000339077.4_Intron|KLHL7_ENST00000322231.7_Intron	p.F143L			Q8IXQ5	KLHL7_HUMAN			5	642	+			0					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.429C>G	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836695	0.32421	.	.	ENSG00000122550	ENST00000545771	T	0.74526	-0.85	3.95	-7.41	0.01392	.	.	.	.	.	T	0.48429	0.1499	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27905	-1.0060	7	.	.	.	.	3.844	0.08926	0.1421:0.0842:0.2569:0.5169	.	143	F5GYE2	.	L	143	ENSP00000446445:F143L	.	F	+	3	2	KLHL7	23131369	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.031000	0.03578	-1.419000	0.02012	-0.228000	0.12330	TTC		0.284	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	NM_018846		6	18	0	0	0	1	0	6	18				
ALCAM	214	broad.mit.edu	37	3	105290756	105290756	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:105290756A>C	ENST00000306107.5	+	15	2225	c.1725A>C	c.(1723-1725)gaA>gaC	p.E575D	ALCAM_ENST00000389927.4_Missense_Mutation_p.E297D|ALCAM_ENST00000472644.2_Missense_Mutation_p.E562D|ALCAM_ENST00000486979.2_Missense_Mutation_p.E524D	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	575					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AAAAGTTAGAAGAAAACAATC	0.358																																						ENST00000306107.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(1723-1725)gaA>gaC		activated leukocyte cell adhesion molecule							71.0	67.0	68.0					3																	105290756		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105290756A>C	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.1725A>C	3.37:g.105290756A>C	ENSP00000305988:p.Glu575Asp					ALCAM_ENST00000486979.2_Missense_Mutation_p.E524D|ALCAM_ENST00000472644.2_Missense_Mutation_p.E562D|ALCAM_ENST00000389927.4_Missense_Mutation_p.E297D	p.E575D	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN			15	2225	+			575					B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.1725A>C	CCDS33810.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.438619	0.62955	.	.	ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927	T;T;T;T	0.60299	0.27;0.64;0.2;0.96	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.65133	0.2662	L	0.36672	1.1	0.49798	D	0.999825	D;D;D	0.58970	0.984;0.984;0.984	D;D;D	0.68192	0.935;0.935;0.956	T	0.67288	-0.5708	10	0.62326	D	0.03	-24.3786	11.6638	0.51363	0.9284:0.0:0.0716:0.0	.	297;562;575	Q6ZS95;B4DTU0;Q13740	.;.;CD166_HUMAN	D	575;562;524;297	ENSP00000305988:E575D;ENSP00000419236:E562D;ENSP00000418213:E524D;ENSP00000374577:E297D	ENSP00000305988:E575D	E	+	3	2	ALCAM	106773446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.040000	0.41203	2.176000	0.68965	0.455000	0.32223	GAA		0.358	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		6	18	0	0	0	1	0	6	18				
C4BPA	722	broad.mit.edu	37	1	207297268	207297268	+	Splice_Site	SNP	T	T	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:207297268T>C	ENST00000367070.3	+	5	624	c.430T>C	c.(430-432)Ttt>Ctt	p.F144L		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	144	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CTTATTCAGATTTTTCTTAAT	0.338																																						ENST00000367070.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.e5-1		complement component 4 binding protein, alpha							61.0	59.0	60.0					1																	207297268		2202	4300	6502	SO:0001630	splice_region_variant	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207297268T>C	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.429-1T>C	1.37:g.207297268T>C							p.F144_splice	NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN			5	624	+			144			Sushi 2.		Q5VVQ8	Splice_Site	SNP	ENST00000367070.3	37	c.428_splice	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	T	16.78	3.218420	0.58560	.	.	ENSG00000123838	ENST00000367070;ENST00000421786	T;T	0.69561	1.5;-0.41	5.9	5.9	0.94986	Complement control module (2);Sushi/SCR/CCP (3);	0.355450	0.24474	N	0.038209	T	0.70954	0.3283	M	0.77712	2.385	0.80722	D	1	B	0.23058	0.079	B	0.32864	0.154	T	0.71341	-0.4622	10	0.87932	D	0	.	12.724	0.57159	0.0:0.0:0.0:1.0	.	144	P04003	C4BPA_HUMAN	L	144	ENSP00000356037:F144L;ENSP00000403386:F144L	ENSP00000356037:F144L	F	+	1	0	C4BPA	205363891	0.391000	0.25221	0.046000	0.18839	0.017000	0.09413	3.686000	0.54685	2.251000	0.74343	0.528000	0.53228	TTT		0.338	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3		Missense_Mutation	4	15	0	0	0	1	0	4	15				
SPATA25	128497	broad.mit.edu	37	20	44515173	44515173	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr20:44515173G>A	ENST00000372519.3	-	2	711	c.667C>T	c.(667-669)Cct>Tct	p.P223S		NM_080608.3	NP_542175.1	Q9BR10	SPT25_HUMAN	spermatogenesis associated 25	223					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAGGAGCCAGGAGGCTGGCCC	0.592																																						ENST00000372519.3																			0											c.(667-669)Cct>Tct		spermatogenesis associated 25							124.0	136.0	132.0					20																	44515173		2202	4300	6502	SO:0001583	missense	128497					integral to membrane		g.chr20:44515173G>A	AL008726	CCDS13383.1	20q13.12	2011-11-24	2011-11-24	2011-11-24	ENSG00000149634	ENSG00000149634			16158	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 165"""	C20orf165		19240080	Standard	NM_080608		Approved	dJ337O18.8, TSG23	uc002xqf.3	Q9BR10	OTTHUMG00000032628	ENST00000372519.3:c.667C>T	20.37:g.44515173G>A	ENSP00000361597:p.Pro223Ser						p.P223S	NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN			2	711	-			223						Missense_Mutation	SNP	ENST00000372519.3	37	c.667C>T	CCDS13383.1	.	.	.	.	.	.	.	.	.	.	G	8.259	0.810847	0.16537	.	.	ENSG00000149634	ENST00000372519	T	0.54479	0.57	5.04	4.09	0.47781	.	0.294481	0.24611	N	0.037049	T	0.45196	0.1330	L	0.29908	0.895	0.22975	N	0.99849	P	0.44139	0.827	P	0.46758	0.526	T	0.26985	-1.0087	10	0.44086	T	0.13	-0.8179	9.0393	0.36307	0.0829:0.0:0.7712:0.146	.	223	Q9BR10	CT165_HUMAN	S	223	ENSP00000361597:P223S	ENSP00000361597:P223S	P	-	1	0	C20orf165	43948580	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	1.795000	0.38784	0.730000	0.32425	-1.134000	0.01955	CCT		0.592	SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079541.1			28	230	0	0	0	1	0	28	230				
DST	667	broad.mit.edu	37	6	56483632	56483632	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:56483632G>T	ENST00000370765.6	-	23	5307	c.5200C>A	c.(5200-5202)Cac>Aac	p.H1734N	DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	3810					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.H1734N(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCTTTCTGTGGGTCATCTGC	0.383																																						ENST00000370765.6																			1	Substitution - Missense(1)	p.H1734N(1)	ovary(1)	NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(5200-5202)Cac>Aac		dystonin							143.0	151.0	148.0					6																	56483632		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56483632G>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.5200C>A	6.37:g.56483632G>T	ENSP00000359801:p.His1734Asn					DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron	p.H1734N	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	5307	-	Lung NSC(77;0.103)		1113					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	c.5200C>A	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	G	9.133	1.011986	0.19277	.	.	ENSG00000151914	ENST00000370765	T	0.77358	-1.09	5.34	3.57	0.40892	.	.	.	.	.	T	0.43411	0.1246	.	.	.	0.19575	N	0.999962	B	0.16396	0.017	B	0.12837	0.008	T	0.08391	-1.0724	7	0.13470	T	0.59	.	11.884	0.52592	0.1418:0.0:0.8582:0.0	.	1734	Q03001-3	.	N	1734	ENSP00000359801:H1734N	ENSP00000359801:H1734N	H	-	1	0	DST	56591591	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	4.180000	0.58296	0.739000	0.32628	0.650000	0.86243	CAC		0.383	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		40	136	1	0	5.43694e-19	1	6.4376e-19	40	136				
C1orf168	199920	broad.mit.edu	37	1	57254645	57254645	+	Splice_Site	SNP	C	C	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:57254645C>A	ENST00000343433.6	-	3	1000		c.e3+1		C1orf168_ENST00000484327.1_Splice_Site	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CATTTCCTTACCTTCCCCCTG	0.597																																						ENST00000343433.6																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						c.e3+1		chromosome 1 open reading frame 168							144.0	127.0	133.0					1																	57254645		2203	4300	6503	SO:0001630	splice_region_variant	199920							g.chr1:57254645C>A	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.919+1G>T	1.37:g.57254645C>A						C1orf168_ENST00000484327.1_Splice_Site		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN			3	1000	-								Q63HM3|Q6ZUY6	Splice_Site	SNP	ENST00000343433.6	37		CCDS30729.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835808	0.71373	.	.	ENSG00000187889	ENST00000343433	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5342	0.67947	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C1orf168	57027233	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.514000	0.53422	2.809000	0.96659	0.655000	0.94253	.		0.597	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303	Intron	7	111	1	0	0.000157383	1	0.00017161	7	111				
TOM1L2	146691	broad.mit.edu	37	17	17788011	17788011	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:17788011C>T	ENST00000379504.3	-	5	521	c.438G>A	c.(436-438)agG>agA	p.R146R	TOM1L2_ENST00000581396.1_Silent_p.R96R|TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000540946.1_Intron|TOM1L2_ENST00000395739.4_Intron|TOM1L2_ENST00000535933.1_Silent_p.R146R|TOM1L2_ENST00000318094.10_Intron	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	146	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	clathrin binding (GO:0030276)|protein kinase binding (GO:0019901)			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CAACCCCTTTCCTCTTCAGCT	0.517																																					Melanoma(192;2505 2909 14455 25269)	ENST00000581396.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10						c.(286-288)agG>agA		target of myb1-like 2 (chicken)							187.0	153.0	165.0					17																	17788011		2203	4300	6503	SO:0001819	synonymous_variant	146691				intracellular protein transport	intracellular		g.chr17:17788011C>T	AJ230803	CCDS32584.1, CCDS42270.1, CCDS74000.1, CCDS74001.1, CCDS74002.1, CCDS74003.1	17p11.2	2008-07-03	2001-11-28		ENSG00000175662	ENSG00000175662			11984	protein-coding gene	gene with protein product		615519	"""target of myb1 (chicken) homolog-like 1"""			10036180	Standard	NM_001082968		Approved		uc002grz.4	Q6ZVM7	OTTHUMG00000059353	ENST00000379504.3:c.438G>A	17.37:g.17788011C>T						TOM1L2_ENST00000540946.1_Intron|TOM1L2_ENST00000535933.1_Silent_p.R146R|TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000395739.4_Intron|TOM1L2_ENST00000318094.10_Intron|TOM1L2_ENST00000379504.3_Silent_p.R146R	p.R96R	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN			4	384	-	all_neural(463;0.228)		146			VHS.		B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Silent	SNP	ENST00000379504.3	37	c.288G>A	CCDS42270.1																																																																																				0.517	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			15	117	0	0	0	1	0	15	117				
RGPD4	285190	broad.mit.edu	37	2	108455272	108455272	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:108455272C>T	ENST00000408999.3	+	4	334	c.257C>T	c.(256-258)tCa>tTa	p.S86L	RGPD4_ENST00000354986.4_Missense_Mutation_p.S86L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	86					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TATTAGCGTTCAGTGGAATTA	0.279																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(256-258)tCa>tTa		RANBP2-like and GRIP domain containing 4							29.0	34.0	33.0					2																	108455272		188	741	929	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108455272C>T	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.257C>T	2.37:g.108455272C>T	ENSP00000386810:p.Ser86Leu					RGPD4_ENST00000354986.4_Missense_Mutation_p.S86L	p.S86L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			4	334	+			86					B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.257C>T	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	c	11.51	1.660866	0.29515	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000445751	T;T	0.63913	-0.07;-0.07	2.48	2.48	0.30137	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	T	0.70351	0.3214	L	0.55481	1.735	0.43550	D	0.995856	D	0.53462	0.96	P	0.61328	0.887	T	0.73668	-0.3910	9	0.87932	D	0	-15.2292	11.9025	0.52692	0.0:1.0:0.0:0.0	.	86	Q7Z3J3	RGPD4_HUMAN	L	86;86;29	ENSP00000347081:S86L;ENSP00000386810:S86L	ENSP00000347081:S86L	S	+	2	0	RGPD4	107821704	1.000000	0.71417	1.000000	0.80357	0.317000	0.28152	6.837000	0.75354	1.379000	0.46325	0.162000	0.16502	TCA		0.279	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		14	31	0	0	0	1	0	14	31				
METTL3	56339	broad.mit.edu	37	14	21971906	21971906	+	Silent	SNP	A	A	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr14:21971906A>T	ENST00000298717.4	-	2	370	c.219T>A	c.(217-219)gcT>gcA	p.A73A	METTL3_ENST00000538267.1_Silent_p.A73A	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	73					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CAGGATCTGTAGCTAATTCAG	0.532																																						ENST00000298717.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(217-219)gcT>gcA		methyltransferase like 3							178.0	163.0	168.0					14																	21971906		2203	4300	6503	SO:0001819	synonymous_variant	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21971906A>T	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.219T>A	14.37:g.21971906A>T						METTL3_ENST00000538267.1_Silent_p.A73A	p.A73A	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	2	370	-	all_cancers(95;0.000628)		73					O14736|Q86V05|Q9HB32	Silent	SNP	ENST00000298717.4	37	c.219T>A	CCDS32044.1																																																																																				0.532	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852		19	162	0	0	0	1	0	19	162				
GRXCR1	389207	broad.mit.edu	37	4	42965095	42965095	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:42965095C>G	ENST00000399770.2	+	2	571	c.571C>G	c.(571-573)Cga>Gga	p.R191G		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	191	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						ACGATGCCGACGAGTTTCTGA	0.428																																						ENST00000399770.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						c.(571-573)Cga>Gga		glutaredoxin, cysteine rich 1							350.0	350.0	350.0					4																	42965095		1915	4124	6039	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42965095C>G		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.571C>G	4.37:g.42965095C>G	ENSP00000382670:p.Arg191Gly						p.R191G	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN			2	571	+			191			Glutaredoxin.			Missense_Mutation	SNP	ENST00000399770.2	37	c.571C>G	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.456589	0.26161	.	.	ENSG00000215203	ENST00000399770	T	0.35789	1.29	6.07	4.13	0.48395	Glutaredoxin (2);Thioredoxin-like fold (2);	0.000000	0.64402	U	0.000003	T	0.24314	0.0589	N	0.03324	-0.35	0.49483	D	0.999792	P	0.48640	0.913	P	0.50537	0.643	T	0.09422	-1.0675	10	0.22109	T	0.4	-14.2846	13.3208	0.60432	0.3815:0.6185:0.0:0.0	.	191	A8MXD5	GRCR1_HUMAN	G	191	ENSP00000382670:R191G	ENSP00000382670:R191G	R	+	1	2	GRXCR1	42659852	0.973000	0.33851	0.862000	0.33874	0.238000	0.25445	2.413000	0.44618	1.515000	0.48885	0.655000	0.94253	CGA		0.428	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		45	387	0	0	0	1	0	45	387				
PCDHGA7	56108	broad.mit.edu	37	5	140764776	140764776	+	Missense_Mutation	SNP	C	C	G	rs375927473		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:140764776C>G	ENST00000518325.1	+	1	2310	c.2310C>G	c.(2308-2310)ttC>ttG	p.F770L	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	770					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGATCTTCCCCCAGCCCA	0.512																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(2308-2310)ttC>ttG				C	,,,,,,LEU/PHE,,,,LEU/PHE	0,4406		0,0,2203	103.0	110.0	107.0		,,,,,,2310,,,,2310	0.9	1.0	5		107	1,8599		0,1,4299	no	intron,intron,intron,intron,intron,intron,missense,intron,intron,intron,missense	PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032087.1	,,,,,,22,,,,22	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	,,,,,,,,,,	,,,,,,770/933,,,,770/818	140764776	1,13005	2203	4300	6503	SO:0001583	missense	56108							g.chr5:140764776C>G	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.2310C>G	5.37:g.140764776C>G	ENSP00000430024:p.Phe770Leu					PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron	p.F770L	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2310	+								B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.2310C>G	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	14.49	2.550192	0.45383	0.0	1.16E-4	ENSG00000253537	ENST00000518325	T	0.52295	0.67	4.73	0.899	0.19271	.	.	.	.	.	T	0.51295	0.1666	M	0.80183	2.485	0.18873	N	0.999985	P;B	0.36438	0.553;0.242	B;B	0.40134	0.32;0.222	T	0.46871	-0.9160	9	0.54805	T	0.06	.	9.0712	0.36493	0.0:0.6193:0.0:0.3807	.	770;770	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	L	770	ENSP00000430024:F770L	ENSP00000430024:F770L	F	+	3	2	PCDHGA7	140744960	0.060000	0.20803	0.991000	0.47740	0.990000	0.78478	-0.017000	0.12590	0.175000	0.19841	0.563000	0.77884	TTC		0.512	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		12	198	0	0	0	1	0	12	198				
LRRC7	57554	broad.mit.edu	37	1	70504892	70504892	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:70504892C>T	ENST00000035383.5	+	19	3301	c.3271C>T	c.(3271-3273)Cca>Tca	p.P1091S	LRRC7_ENST00000415775.2_Missense_Mutation_p.P375S|LRRC7_ENST00000310961.5_Missense_Mutation_p.P1096S	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1091						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATTTTCTCAGCCATCTGTGAA	0.537																																						ENST00000310961.5																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(3286-3288)Cca>Tca		leucine rich repeat containing 7							71.0	75.0	73.0					1																	70504892		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504892C>T		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3271C>T	1.37:g.70504892C>T	ENSP00000035383:p.Pro1091Ser					LRRC7_ENST00000415775.2_Missense_Mutation_p.P375S|LRRC7_ENST00000035383.5_Missense_Mutation_p.P1091S	p.P1096S			Q96NW7	LRRC7_HUMAN			22	3704	+			1091					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.3286C>T	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	2.276	-0.365743	0.05069	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.37411	1.2;1.26;2.36	5.76	5.76	0.90799	.	0.128282	0.56097	D	0.000037	T	0.21718	0.0523	L	0.50333	1.59	0.43761	D	0.996279	B;B;B	0.32573	0.157;0.376;0.01	B;B;B	0.27887	0.022;0.084;0.004	T	0.02766	-1.1113	10	0.27785	T	0.31	.	18.9453	0.92620	0.0:1.0:0.0:0.0	.	375;1091;1091	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	S	1096;1091;375;914	ENSP00000309245:P1096S;ENSP00000035383:P1091S;ENSP00000394867:P375S	ENSP00000035383:P1091S	P	+	1	0	LRRC7	70277480	1.000000	0.71417	0.998000	0.56505	0.020000	0.10135	3.645000	0.54389	2.721000	0.93114	0.655000	0.94253	CCA		0.537	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		8	110	0	0	0	1	0	8	110				
KATNB1	10300	broad.mit.edu	37	16	57785854	57785854	+	Silent	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr16:57785854C>G	ENST00000379661.3	+	8	911	c.519C>G	c.(517-519)ctC>ctG	p.L173L		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GCCTCCAGCTCTGGGATCTCA	0.602																																						ENST00000379661.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(517-519)ctC>ctG		katanin p80 (WD repeat containing) subunit B 1							75.0	50.0	58.0					16																	57785854		2198	4300	6498	SO:0001819	synonymous_variant	10300				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity	g.chr16:57785854C>G	AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"""WD repeat domain containing"""	6217	protein-coding gene	gene with protein product		602703	"""katanin p80 (WD40-containing) subunit B 1"""			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.519C>G	16.37:g.57785854C>G							p.L173L	NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN			8	911	+		all_neural(199;0.223)	173			Interaction with centrosomes.|Interaction with dynein (By similarity).			Silent	SNP	ENST00000379661.3	37	c.519C>G	CCDS10788.1																																																																																				0.602	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3			6	24	0	0	0	1	0	6	24				
OR5F1	338674	broad.mit.edu	37	11	55761495	55761495	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:55761495C>G	ENST00000278409.1	-	1	606	c.607G>C	c.(607-609)Gct>Cct	p.A203P		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	203					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TTCACACCAGCCAAAATAGAA	0.463																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(607-609)Gct>Cct		olfactory receptor, family 5, subfamily F, member 1							77.0	71.0	73.0					11																	55761495		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761495C>G	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.607G>C	11.37:g.55761495C>G	ENSP00000278409:p.Ala203Pro						p.A203P	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	606	-	Esophageal squamous(21;0.00448)		203					Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.607G>C	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662760	0.47572	.	.	ENSG00000149133	ENST00000278409	T	0.39406	1.08	2.8	0.47	0.16747	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.60327	0.2260	M	0.84082	2.675	0.09310	N	1	D	0.67145	0.996	D	0.72338	0.977	T	0.46359	-0.9197	9	0.87932	D	0	.	5.2754	0.15647	0.1975:0.6797:0.0:0.1228	.	203	O95221	OR5F1_HUMAN	P	203	ENSP00000278409:A203P	ENSP00000278409:A203P	A	-	1	0	OR5F1	55518071	0.000000	0.05858	0.329000	0.25429	0.280000	0.26924	0.110000	0.15437	0.300000	0.22699	0.297000	0.19635	GCT		0.463	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		6	91	0	0	0	1	0	6	91				
PIKFYVE	200576	broad.mit.edu	37	2	209195278	209195278	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:209195278G>C	ENST00000264380.4	+	23	3981	c.3823G>C	c.(3823-3825)Gat>Cat	p.D1275H		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1275					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CATGTTCTGTGATACCCCCAT	0.448																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(3823-3825)Gat>Cat		phosphoinositide kinase, FYVE finger containing							324.0	320.0	321.0					2																	209195278		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209195278G>C	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3823G>C	2.37:g.209195278G>C	ENSP00000264380:p.Asp1275His						p.D1275H	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			23	3981	+			1275					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.3823G>C	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.904634	0.92035	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.50548	0.74;0.74	5.65	5.65	0.86999	.	0.054419	0.64402	D	0.000001	T	0.57475	0.2056	M	0.72353	2.195	0.80722	D	1	P;P	0.47409	0.895;0.877	P;P	0.45946	0.498;0.467	T	0.60239	-0.7302	10	0.52906	T	0.07	-20.0059	20.0965	0.97849	0.0:0.0:1.0:0.0	.	1275;1219	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	H	1275;851;1219	ENSP00000264380:D1275H;ENSP00000405736:D1219H	ENSP00000264380:D1275H	D	+	1	0	PIKFYVE	208903523	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.675000	0.98638	2.824000	0.97209	0.655000	0.94253	GAT		0.448	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		21	273	0	0	0	1	0	21	273				
DNHD1	144132	broad.mit.edu	37	11	6593057	6593057	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:6593057C>A	ENST00000527990.2	+	41	14103	c.14103C>A	c.(14101-14103)gaC>gaA	p.D4701E	DNHD1_ENST00000254579.6_Missense_Mutation_p.D4701E			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4701					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCCCAGCCGACCTGACTGTGT	0.627																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(14101-14103)gaC>gaA		dynein heavy chain domain 1							62.0	71.0	68.0					11																	6593057		2135	4248	6383	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6593057C>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.14103C>A	11.37:g.6593057C>A	ENSP00000436180:p.Asp4701Glu					DNHD1_ENST00000527990.2_Missense_Mutation_p.D4701E	p.D4701E	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	43	14667	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4701					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.14103C>A	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	0.053	-1.243184	0.01481	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.07567	3.18;3.18	4.43	-3.39	0.04868	Dynein heavy chain (1);	0.483709	0.19736	N	0.107227	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	B;B;B	0.19073	0.033;0.033;0.033	B;B;B	0.27262	0.078;0.078;0.058	T	0.42085	-0.9472	10	0.02654	T	1	-9.0321	11.6461	0.51261	0.0:0.473:0.0:0.527	.	3789;754;4701	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	E	4701;4701;969	ENSP00000254579:D4701E;ENSP00000436180:D4701E	ENSP00000254579:D4701E	D	+	3	2	DNHD1	6549633	0.166000	0.22962	0.186000	0.23195	0.317000	0.28152	-0.658000	0.05329	-0.561000	0.06094	0.655000	0.94253	GAC		0.627	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		12	105	1	0	0.00010058	1	0.000110925	12	105				
ACE	1636	broad.mit.edu	37	17	61571289	61571289	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:61571289A>T	ENST00000290866.4	+	21	3167	c.3143A>T	c.(3142-3144)gAc>gTc	p.D1048V	ACE_ENST00000421982.2_Missense_Mutation_p.D294V|ACE_ENST00000290863.6_Missense_Mutation_p.D474V|ACE_ENST00000428043.1_Missense_Mutation_p.D1048V|ACE_ENST00000577647.1_Missense_Mutation_p.D474V|ACE_ENST00000413513.3_Missense_Mutation_p.D474V|ACE_ENST00000490216.2_Missense_Mutation_p.D474V	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1048	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCAGAGCATGACATCAACTTT	0.572																																						ENST00000577647.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1420-1422)gAc>gTc		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						130.0	102.0	111.0					17																	61571289		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61571289A>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.3143A>T	17.37:g.61571289A>T	ENSP00000290866:p.Asp1048Val					ACE_ENST00000428043.1_Missense_Mutation_p.D1048V|ACE_ENST00000490216.2_Missense_Mutation_p.D474V|ACE_ENST00000290863.6_Missense_Mutation_p.D474V|ACE_ENST00000290866.4_Missense_Mutation_p.D1048V|ACE_ENST00000413513.3_Missense_Mutation_p.D474V|ACE_ENST00000421982.2_Missense_Mutation_p.D294V	p.D474V			P12821	ACE_HUMAN			10	1466	+			1048			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.1421A>T	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	A	9.680	1.149085	0.21288	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	4.6	4.6	0.57074	.	0.100459	0.64402	D	0.000004	T	0.63283	0.2498	M	0.80332	2.49	0.80722	D	1	P;P;P;P	0.44006	0.678;0.562;0.607;0.824	B;P;B;P	0.52159	0.361;0.691;0.329;0.64	T	0.69720	-0.5069	10	0.72032	D	0.01	-43.8839	14.2625	0.66094	1.0:0.0:0.0:0.0	.	294;474;474;1048	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	V	1048;1048;474;474;294	ENSP00000290866:D1048V;ENSP00000397593:D1048V;ENSP00000290863:D474V;ENSP00000392247:D474V;ENSP00000387760:D294V	ENSP00000290863:D474V	D	+	2	0	ACE	58925021	1.000000	0.71417	0.845000	0.33349	0.436000	0.31835	5.960000	0.70348	1.820000	0.53075	0.459000	0.35465	GAC		0.572	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			4	64	0	0	0	1	0	4	64				
MAST4	375449	broad.mit.edu	37	5	66458515	66458515	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:66458515G>A	ENST00000403625.2	+	28	4161	c.3866G>A	c.(3865-3867)aGa>aAa	p.R1289K	MAST4_ENST00000261569.7_Missense_Mutation_p.R1095K|MAST4_ENST00000404260.3_Missense_Mutation_p.R1292K|MAST4_ENST00000403666.1_Missense_Mutation_p.R1100K|MAST4_ENST00000405643.1_Missense_Mutation_p.R1110K	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1292	Ser-rich.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TGCTTGAACAGATCCCTGTCA	0.522																																						ENST00000404260.3																			0				breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13						c.(3874-3876)aGa>aAa		microtubule associated serine/threonine kinase family member 4							88.0	91.0	90.0					5																	66458515		1893	4106	5999	SO:0001583	missense	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66458515G>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.3866G>A	5.37:g.66458515G>A	ENSP00000385727:p.Arg1289Lys					MAST4_ENST00000405643.1_Missense_Mutation_p.R1110K|MAST4_ENST00000403625.2_Missense_Mutation_p.R1289K|MAST4_ENST00000261569.7_Missense_Mutation_p.R1095K|MAST4_ENST00000403666.1_Missense_Mutation_p.R1100K	p.R1292K			O15021	MAST4_HUMAN		Lung(70;0.011)	28	4183	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	1292			Ser-rich.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	c.3875G>A	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.778530	0.90195	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	6.07	6.07	0.98685	.	0.066231	0.64402	D	0.000009	T	0.66268	0.2772	M	0.85630	2.765	0.33031	D	0.530202	P;D	0.62365	0.792;0.991	P;D	0.65684	0.554;0.937	T	0.74077	-0.3781	10	0.72032	D	0.01	-15.191	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1292;1100	O15021;O15021-3	MAST4_HUMAN;.	K	1292;1289;1100;1110;1110;1095	ENSP00000385048:R1292K;ENSP00000385727:R1289K;ENSP00000384313:R1100K;ENSP00000384099:R1110K;ENSP00000261569:R1095K	ENSP00000261569:R1095K	R	+	2	0	MAST4	66494271	1.000000	0.71417	0.986000	0.45419	0.786000	0.44442	5.371000	0.66150	2.890000	0.99128	0.650000	0.86243	AGA		0.522	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			11	68	0	0	0	1	0	11	68				
SLC4A4	8671	broad.mit.edu	37	4	72316247	72316247	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:72316247T>G	ENST00000264485.5	+	10	1312	c.1195T>G	c.(1195-1197)Tcc>Gcc	p.S399A	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Missense_Mutation_p.S355A|SLC4A4_ENST00000425175.1_Missense_Mutation_p.S399A|SLC4A4_ENST00000351898.6_Missense_Mutation_p.S399A|SLC4A4_ENST00000340595.3_Missense_Mutation_p.S355A	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	399					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GAGTCTTCCATCCTCTGACAA	0.418																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1063-1065)Tcc>Gcc		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							56.0	54.0	55.0					4																	72316247		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72316247T>G	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1195T>G	4.37:g.72316247T>G	ENSP00000264485:p.Ser399Ala					SLC4A4_ENST00000512686.1_Missense_Mutation_p.S355A|SLC4A4_ENST00000425175.1_Missense_Mutation_p.S399A|SLC4A4_ENST00000264485.5_Missense_Mutation_p.S399A|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Missense_Mutation_p.S399A	p.S355A	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		7	1259	+			399					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.1063T>G	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.737302	0.89482	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44	5.82	5.82	0.92795	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.89455	0.6720	M	0.87269	2.87	0.80722	D	1	P;D;P;P;P;P	0.53885	0.845;0.963;0.904;0.812;0.938;0.845	B;P;P;P;P;B	0.57776	0.403;0.827;0.607;0.539;0.624;0.314	D	0.90716	0.4631	10	0.56958	D	0.05	.	16.1875	0.81962	0.0:0.0:0.0:1.0	.	399;399;355;355;379;399	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	A	399;399;399;355;355	ENSP00000264485:S399A;ENSP00000393557:S399A;ENSP00000307349:S399A;ENSP00000422400:S355A;ENSP00000344272:S355A	ENSP00000264485:S399A	S	+	1	0	SLC4A4	72535111	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.010000	0.88615	2.225000	0.72522	0.533000	0.62120	TCC		0.418	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		3	24	0	0	0	1	0	3	24				
LRTM2	654429	broad.mit.edu	37	12	1940653	1940653	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:1940653G>A	ENST00000543818.1	+	4	1462	c.620G>A	c.(619-621)cGt>cAt	p.R207H	CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.R207H|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.R207H	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	207	LRRCT.					integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TGTAACCTGCGTGAGTTCAAA	0.602																																						ENST00000543818.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(619-621)cGt>cAt		leucine-rich repeats and transmembrane domains 2							50.0	54.0	53.0					12																	1940653		2203	4299	6502	SO:0001583	missense	654429					integral to membrane		g.chr12:1940653G>A	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.620G>A	12.37:g.1940653G>A	ENSP00000446278:p.Arg207His					CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.R207H|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.R207H	p.R207H	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		4	1462	+	Ovarian(42;0.107)		207			LRRCT.		A7E2U6	Missense_Mutation	SNP	ENST00000543818.1	37	c.620G>A	CCDS31726.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846719	0.91277	.	.	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041	T;T;T	0.53423	0.62;0.62;0.62	5.07	5.07	0.68467	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.53302	0.1788	M	0.74546	2.27	0.80722	D	1	P	0.48764	0.915	B	0.41988	0.372	T	0.64296	-0.6441	10	0.72032	D	0.01	.	18.4555	0.90718	0.0:0.0:1.0:0.0	.	207	Q8N967	LRTM2_HUMAN	H	207	ENSP00000446278:R207H;ENSP00000299194:R207H;ENSP00000444737:R207H	ENSP00000299194:R207H	R	+	2	0	LRTM2	1810914	0.999000	0.42202	0.973000	0.42090	0.997000	0.91878	7.834000	0.86773	2.353000	0.79882	0.561000	0.74099	CGT		0.602	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			13	80	0	0	0	1	0	13	80				
CXCL12	6387	broad.mit.edu	37	10	44876325	44876325	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:44876325T>A	ENST00000374429.2	-	2	151	c.65A>T	c.(64-66)aAg>aTg	p.K22M	AL137026.1_ENST00000593376.1_Intron|CXCL12_ENST00000374426.2_Missense_Mutation_p.K22M|CXCL12_ENST00000395795.4_Missense_Mutation_p.K22M|CXCL12_ENST00000343575.6_Missense_Mutation_p.K22M|CXCL12_ENST00000395793.3_Missense_Mutation_p.K22M|CXCL12_ENST00000496375.1_5'UTR|CXCL12_ENST00000395794.2_Missense_Mutation_p.K22M	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	22					adult locomotory behavior (GO:0008344)|ameboidal cell migration (GO:0001667)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|motor neuron axon guidance (GO:0008045)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|patterning of blood vessels (GO:0001569)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of T cell migration (GO:2000406)|regulation of actin polymerization or depolymerization (GO:0008064)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|telencephalon cell migration (GO:0022029)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|CXCR chemokine receptor binding (GO:0045236)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Tinzaparin(DB06822)	GCTGACGGGCTTCCCTAGAAG	0.493																																						ENST00000374429.2																			0				endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(64-66)aAg>aTg		chemokine (C-X-C motif) ligand 12	Dexamethasone(DB01234)						192.0	181.0	185.0					10																	44876325		2203	4300	6503	SO:0001583	missense	6387				blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity	g.chr10:44876325T>A	L36033	CCDS7207.1, CCDS31186.1, CCDS44373.1, CCDS53527.1, CCDS60518.1	10q11.1	2013-02-28	2010-05-11	2002-08-23	ENSG00000107562	ENSG00000107562		"""Endogenous ligands"""	10672	protein-coding gene	gene with protein product		600835	"""stromal cell-derived factor 1"""	SDF1A, SDF1B, SDF1		7490086	Standard	NM_001033886		Approved	SCYB12, SDF-1a, SDF-1b, PBSF, TLSF-a, TLSF-b, TPAR1	uc021ppm.1	P48061	OTTHUMG00000018054	ENST00000374429.2:c.65A>T	10.37:g.44876325T>A	ENSP00000363551:p.Lys22Met					CXCL12_ENST00000395795.4_Missense_Mutation_p.K22M|AL137026.1_ENST00000593376.1_Intron|CXCL12_ENST00000374426.2_Missense_Mutation_p.K22M|CXCL12_ENST00000496375.1_5'UTR|CXCL12_ENST00000395794.2_Missense_Mutation_p.K22M|CXCL12_ENST00000395793.3_Missense_Mutation_p.K22M|CXCL12_ENST00000343575.6_Missense_Mutation_p.K22M	p.K22M	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN			2	151	-			22					B2R4G0|E7EVL0|H7BYN8|Q2L985|Q2L986|Q2L988|Q5IT36|Q6ICW0|Q9H554	Missense_Mutation	SNP	ENST00000374429.2	37	c.65A>T	CCDS44373.1	.	.	.	.	.	.	.	.	.	.	t	19.06	3.753209	0.69648	.	.	ENSG00000107562	ENST00000395795;ENST00000374429;ENST00000395793;ENST00000374426;ENST00000343575;ENST00000395794	T;T;T;T;T	0.25912	1.83;1.86;1.88;1.84;1.77	5.47	5.47	0.80525	Chemokine interleukin-8-like domain (1);	0.000000	0.85682	D	0.000000	T	0.52041	0.1710	.	.	.	0.46901	D	0.999249	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.99	T	0.57112	-0.7867	9	0.87932	D	0	.	13.52	0.61561	0.0:0.0:0.0:1.0	.	22;22	P48061-3;P48061	.;SDF1_HUMAN	M	22	ENSP00000379141:K22M;ENSP00000363551:K22M;ENSP00000363548:K22M;ENSP00000339913:K22M;ENSP00000379140:K22M	ENSP00000339913:K22M	K	-	2	0	CXCL12	44196331	1.000000	0.71417	0.985000	0.45067	0.656000	0.38851	6.000000	0.70678	2.087000	0.62958	0.524000	0.50904	AAG		0.493	CXCL12-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047738.2	NM_000609		8	196	0	0	0	1	0	8	196				
KCTD19	146212	broad.mit.edu	37	16	67327851	67327851	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr16:67327851G>T	ENST00000304372.5	-	12	1869	c.1814C>A	c.(1813-1815)cCt>cAt	p.P605H		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	605					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGGGCTCTCAGGGTGGCTCCC	0.547																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(1813-1815)cCt>cAt		potassium channel tetramerization domain containing 19							140.0	145.0	143.0					16																	67327851		1913	4129	6042	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67327851G>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.1814C>A	16.37:g.67327851G>T	ENSP00000305702:p.Pro605His						p.P605H	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	12	1869	-		Ovarian(137;0.192)	605					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.1814C>A	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480058	0.44044	.	.	ENSG00000168676	ENST00000304372	T	0.59083	0.29	5.63	3.66	0.41972	.	0.409722	0.21463	N	0.074135	T	0.43344	0.1243	N	0.19112	0.55	0.24301	N	0.99512	P	0.45348	0.856	P	0.45946	0.498	T	0.30504	-0.9976	10	0.62326	D	0.03	-2.6792	5.45	0.16560	0.1471:0.1845:0.6684:0.0	.	605	Q17RG1	KCD19_HUMAN	H	605	ENSP00000305702:P605H	ENSP00000305702:P605H	P	-	2	0	KCTD19	65885352	1.000000	0.71417	0.995000	0.50966	0.484000	0.33280	1.965000	0.40471	1.355000	0.45865	-0.305000	0.09177	CCT		0.547	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		17	208	1	0	0.000566183	1	0.000613895	17	208				
SLC38A2	54407	broad.mit.edu	37	12	46756292	46756292	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:46756292T>C	ENST00000256689.5	-	14	1753	c.1309A>G	c.(1309-1311)Atc>Gtc	p.I437V	SLC38A2_ENST00000551374.1_Missense_Mutation_p.I275V|SLC38A2_ENST00000547252.1_5'Flank	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	437					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		AAACCAAAGATATCCCTAATA	0.348																																					Ovarian(9;448 492 8335 28722 40361)	ENST00000256689.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(1309-1311)Atc>Gtc		solute carrier family 38, member 2							75.0	71.0	73.0					12																	46756292		2203	4298	6501	SO:0001583	missense	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46756292T>C	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.1309A>G	12.37:g.46756292T>C	ENSP00000256689:p.Ile437Val					SLC38A2_ENST00000551374.1_Missense_Mutation_p.I275V	p.I437V	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	14	1753	-	Lung SC(27;0.192)|Renal(347;0.236)		437					Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	ENST00000256689.5	37	c.1309A>G	CCDS8749.1	.	.	.	.	.	.	.	.	.	.	T	15.42	2.826841	0.50739	.	.	ENSG00000134294	ENST00000256689;ENST00000551374	T;T	0.02032	4.49;4.49	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.02848	0.0085	L	0.41492	1.28	0.80722	D	1	B;B;B	0.29253	0.148;0.056;0.239	B;B;B	0.32762	0.059;0.108;0.152	T	0.37842	-0.9688	10	0.05721	T	0.95	-18.9519	16.1905	0.81986	0.0:0.0:0.0:1.0	.	275;337;437	F8VQW8;Q96QD8-2;Q96QD8	.;.;S38A2_HUMAN	V	437;275	ENSP00000256689:I437V;ENSP00000450406:I275V	ENSP00000256689:I437V	I	-	1	0	SLC38A2	45042559	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	7.698000	0.84413	2.212000	0.71576	0.533000	0.62120	ATC		0.348	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			12	52	0	0	0	1	0	12	52				
CSMD1	64478	broad.mit.edu	37	8	3046478	3046478	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr8:3046478G>T	ENST00000520002.1	-	36	6012	c.5457C>A	c.(5455-5457)taC>taA	p.Y1819*	CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Y1818*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Y1819*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Y1818*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.Y1819*|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Y1818*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Y1819*|CSMD1_ENST00000523387.1_5'UTR			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1819	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGGCTCAGGGTAGCCGGGGG	0.468																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(5455-5457)taC>taA		CUB and Sushi multiple domains 1							75.0	71.0	72.0					8																	3046478		1895	4113	6008	SO:0001587	stop_gained	64478					integral to membrane		g.chr8:3046478G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5457C>A	8.37:g.3046478G>T	ENSP00000430733:p.Tyr1819*					CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Y1818*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Y1818*|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Nonsense_Mutation_p.Y1818*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Y1819*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Y1819*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.Y1819*	p.Y1819*			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	36	6012	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1819			CUB 11.		Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37	c.5457C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	47|47	13.583676|13.583676	0.99751|0.99751	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|.	.|.	.|.	5.41|5.41	-1.49|-1.49	0.08718|0.08718	.|.	.|0.163043	.|0.41938	.|D	.|0.000791	T|.	0.23249|.	0.0562|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42531|.	-0.9446|.	3|.	.|0.02654	.|T	.|1	.|.	12.3845|12.3845	0.55325|0.55325	0.5353:0.0:0.4647:0.0|0.5353:0.0:0.4647:0.0	.|.	.|.	.|.	.|.	T|X	1299|1819;1819;1681;1818;1818;1818	.|.	.|ENSP00000320445:Y1681X	P|Y	-|-	1|3	0|2	CSMD1|CSMD1	3033885|3033885	1.000000|1.000000	0.71417|0.71417	0.922000|0.922000	0.36590|0.36590	0.903000|0.903000	0.53119|0.53119	0.895000|0.895000	0.28363|0.28363	-0.211000|-0.211000	0.10124|0.10124	0.637000|0.637000	0.83480|0.83480	CCC|TAC		0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	17	1	0	0.004672	1	0.0049273	3	17				
IGLV8-61	28774	broad.mit.edu	37	22	22453465	22453465	+	RNA	SNP	C	C	T	rs372985044		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr22:22453465C>T	ENST00000390283.2	+	0	257									immunoglobulin lambda variable 8-61																		CCAGGCTCCACGCACGCTCAT	0.592																																						ENST00000390283.2																			0															C		0,4028		0,0,2014	133.0	137.0	135.0			-1.5	0.0	22		135	3,8341		0,3,4169	no	intergenic				0,3,6183	TT,TC,CC		0.036,0.0,0.0242			22453465	3,12369	2014	4172	6186			28774							g.chr22:22453465C>T	Z73650		22q11.2	2012-02-08			ENSG00000211638	ENSG00000211638		"""Immunoglobulins / IGL locus"""	5931	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000150844		22.37:g.22453465C>T														0	257	+									RNA	SNP	ENST00000390283.2	37																																																																																						0.592	IGLV8-61-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000320321.1	NG_000002		9	138	0	0	0	1	0	9	138				
REV3L	5980	broad.mit.edu	37	6	111643869	111643869	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:111643869T>C	ENST00000358835.3	-	27	8708	c.8254A>G	c.(8254-8256)Att>Gtt	p.I2752V	REV3L_ENST00000368805.1_Missense_Mutation_p.I2752V|REV3L_ENST00000435970.1_Missense_Mutation_p.I2674V|REV3L_ENST00000368802.3_Missense_Mutation_p.I2752V			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2752					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTGTGAACAATACTATCGCCA	0.363								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(8020-8022)Att>Gtt	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							202.0	186.0	191.0					6																	111643869		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111643869T>C	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.8254A>G	6.37:g.111643869T>C	ENSP00000351697:p.Ile2752Val					REV3L_ENST00000368805.1_Missense_Mutation_p.I2752V|REV3L_ENST00000358835.3_Missense_Mutation_p.I2752V|REV3L_ENST00000368802.3_Missense_Mutation_p.I2752V	p.I2674V			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	28	8836	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2752					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.8020A>G	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	20.7	4.028095	0.75390	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.53	5.53	0.82687	DNA polymerase, palm domain (1);DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.06371	0.0164	N	0.12471	0.22	0.50039	D	0.999844	P	0.37708	0.606	P	0.48627	0.584	T	0.04946	-1.0916	10	0.02654	T	1	.	15.3219	0.74129	0.0:0.0:0.0:1.0	.	2752	O60673	DPOLZ_HUMAN	V	2752;2752;2752;2674	ENSP00000357792:I2752V;ENSP00000357795:I2752V;ENSP00000351697:I2752V;ENSP00000402003:I2674V	ENSP00000351697:I2752V	I	-	1	0	REV3L	111750562	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.725000	0.84808	2.095000	0.63458	0.477000	0.44152	ATT		0.363	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		20	114	0	0	0	1	0	20	114				
PPIL2	23759	broad.mit.edu	37	22	22035640	22035640	+	Silent	SNP	C	C	T	rs369102532		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr22:22035640C>T	ENST00000335025.8	+	7	439	c.348C>T	c.(346-348)atC>atT	p.I116I	PPIL2_ENST00000412327.1_Silent_p.I116I|PPIL2_ENST00000492445.2_Silent_p.I116I|PPIL2_ENST00000406385.1_Silent_p.I116I|PPIL2_ENST00000398831.3_Silent_p.I116I|PPIL2_ENST00000456792.2_Silent_p.I95I					peptidylprolyl isomerase (cyclophilin)-like 2											endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					ACACCCACATCGTGGCTGTGA	0.597																																						ENST00000406385.1																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17						c.(346-348)atC>atT		peptidylprolyl isomerase (cyclophilin)-like 2		C	,,	0,4406		0,0,2203	163.0	118.0	133.0		348,348,348	-3.9	1.0	22		133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PPIL2	NM_014337.3,NM_148175.2,NM_148176.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	116/521,116/521,116/528	22035640	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23759				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	g.chr22:22035640C>T		CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"""U-box domain containing"""	9261	protein-coding gene	gene with protein product	"""U-box domain containing 7"""	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.348C>T	22.37:g.22035640C>T						PPIL2_ENST00000492445.2_Silent_p.I116I|PPIL2_ENST00000412327.1_Silent_p.I116I|PPIL2_ENST00000456792.2_Silent_p.I95I|PPIL2_ENST00000335025.7_Silent_p.I116I|PPIL2_ENST00000398831.3_Silent_p.I116I	p.I116I			Q13356	PPIL2_HUMAN			7	408	+	Colorectal(54;0.105)		116						Silent	SNP	ENST00000335025.8	37	c.348C>T	CCDS13793.1																																																																																				0.597	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4			7	63	0	0	0	1	0	7	63				
VCAN	1462	broad.mit.edu	37	5	82843857	82843857	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:82843857C>T	ENST00000265077.3	+	10	10012	c.9447C>T	c.(9445-9447)ttC>ttT	p.F3149F	VCAN_ENST00000512590.2_Silent_p.F1347F|VCAN_ENST00000343200.5_Silent_p.F2162F|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Silent_p.F408F|VCAN_ENST00000342785.4_Silent_p.F1395F	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3149	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTAACACATTCAGGTGCCTCT	0.358																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(9445-9447)ttC>ttT		versican							207.0	189.0	195.0					5																	82843857		2203	4300	6503	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82843857C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9447C>T	5.37:g.82843857C>T						VCAN_ENST00000502527.2_Silent_p.F408F|VCAN_ENST00000343200.5_Silent_p.F2162F|VCAN_ENST00000512590.2_Silent_p.F1347F|VCAN_ENST00000342785.4_Silent_p.F1395F|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA	p.F3149F	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	10	10012	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	3149			EGF-like 2; calcium-binding (Potential).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.9447C>T	CCDS4060.1																																																																																				0.358	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		8	56	0	0	0	1	0	8	56				
KCTD19	146212	broad.mit.edu	37	16	67327850	67327850	+	Silent	SNP	A	A	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr16:67327850A>G	ENST00000304372.5	-	12	1870	c.1815T>C	c.(1813-1815)ccT>ccC	p.P605P		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	605					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGGGGCTCTCAGGGTGGCTCC	0.547																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(1813-1815)ccT>ccC		potassium channel tetramerization domain containing 19							141.0	146.0	144.0					16																	67327850		1909	4129	6038	SO:0001819	synonymous_variant	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67327850A>G	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.1815T>C	16.37:g.67327850A>G							p.P605P	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	12	1870	-		Ovarian(137;0.192)	605					B4DZ49|Q8N804	Silent	SNP	ENST00000304372.5	37	c.1815T>C	CCDS42179.1																																																																																				0.547	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		17	205	0	0	0	1	0	17	205				
FANCL	55120	broad.mit.edu	37	2	58392999	58392999	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:58392999A>G	ENST00000233741.4	-	8	587	c.551T>C	c.(550-552)aTa>aCa	p.I184T	FANCL_ENST00000403676.1_Missense_Mutation_p.I67T|FANCL_ENST00000402135.3_Missense_Mutation_p.I189T|FANCL_ENST00000403295.3_Missense_Mutation_p.I184T|FANCL_ENST00000540646.1_3'UTR	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	184	UBC-RWD region (URD).				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						ATAAATGCTTATTAAGGAGCT	0.328								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000402135.3																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						c.(565-567)aTa>aCa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group L							96.0	100.0	98.0					2																	58392999		2203	4300	6503	SO:0001583	missense	55120	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:58392999A>G	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"""Zinc fingers, PHD-type"", ""Fanconi anemia, complementation groups"""	20748	protein-coding gene	gene with protein product		608111	"""PHD finger protein 9"""	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.551T>C	2.37:g.58392999A>G	ENSP00000233741:p.Ile184Thr					FANCL_ENST00000233741.4_Missense_Mutation_p.I184T|FANCL_ENST00000403295.3_Missense_Mutation_p.I184T|FANCL_ENST00000540646.1_3'UTR|FANCL_ENST00000403676.1_Missense_Mutation_p.I67T	p.I189T	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN			8	602	-			184					Q6GU60	Missense_Mutation	SNP	ENST00000233741.4	37	c.566T>C	CCDS1860.1	.	.	.	.	.	.	.	.	.	.	A	5.532	0.283094	0.10458	.	.	ENSG00000115392	ENST00000403295;ENST00000233741;ENST00000402135;ENST00000403676;ENST00000449070;ENST00000446381;ENST00000417361	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.74	2.04	0.26737	Fanconi anemia complex, subunit FancL, WD-repeat containing domain (1);	0.887861	0.10405	N	0.678644	T	0.33760	0.0874	L	0.56769	1.78	0.80722	D	1	B;B;B;B	0.10296	0.001;0.003;0.001;0.0	B;B;B;B	0.12156	0.004;0.007;0.002;0.003	T	0.09840	-1.0656	10	0.12430	T	0.62	-26.3754	5.5376	0.17020	0.6797:0.0:0.1824:0.1379	.	125;184;189;184	C9JZA9;B5MC31;Q9NW38-2;Q9NW38	.;.;.;FANCL_HUMAN	T	184;184;189;67;125;36;72	ENSP00000386097:I184T;ENSP00000233741:I184T;ENSP00000385021:I189T;ENSP00000384046:I67T;ENSP00000401280:I125T;ENSP00000390991:I36T;ENSP00000389448:I72T	ENSP00000233741:I184T	I	-	2	0	FANCL	58246503	0.800000	0.28916	0.999000	0.59377	0.991000	0.79684	1.942000	0.40243	0.440000	0.26502	0.482000	0.46254	ATA		0.328	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251497.1	NM_018062		7	73	0	0	0	1	0	7	73				
MOB3B	79817	broad.mit.edu	37	9	27455167	27455167	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr9:27455167G>A	ENST00000262244.5	-	2	806	c.382C>T	c.(382-384)Cag>Tag	p.Q128*		NM_024761.4	NP_079037.3	Q86TA1	MOB3B_HUMAN	MOB kinase activator 3B	128							metal ion binding (GO:0046872)										TTGTTGATCTGAACCTCAATC	0.423																																						ENST00000262244.5																			0											c.(382-384)Cag>Tag		MOB kinase activator 3B							107.0	99.0	102.0					9																	27455167		2203	4300	6503	SO:0001587	stop_gained	79817						metal ion binding|protein binding	g.chr9:27455167G>A	AK023266	CCDS6520.1	9p21.1	2012-07-05	2011-09-28	2011-09-28	ENSG00000120162	ENSG00000120162		"""MOB kinase activators"""	23825	protein-coding gene	gene with protein product	"""monopolar spindle 1 binding, MOB1, domain containing"""		"""MOB1, Mps One Binder kinase activator-like 2B (yeast)"", ""chromosome 9 open reading frame 35"""	MOBKL2B, C9orf35		12477932	Standard	NM_024761		Approved	MOB1D, FLJ13204	uc003zqn.3	Q86TA1	OTTHUMG00000019717	ENST00000262244.5:c.382C>T	9.37:g.27455167G>A	ENSP00000262244:p.Gln128*						p.Q128*	NM_024761.4	NP_079037.3	Q86TA1	MOL2B_HUMAN			2	806	-			128					Q8NEB4|Q9H8V4	Nonsense_Mutation	SNP	ENST00000262244.5	37	c.382C>T	CCDS6520.1	.	.	.	.	.	.	.	.	.	.	G	40	8.485566	0.98832	.	.	ENSG00000120162	ENST00000262244	.	.	.	5.83	4.93	0.64822	.	0.072326	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-24.4984	15.5738	0.76359	0.0:0.1385:0.8615:0.0	.	.	.	.	X	128	.	ENSP00000262244:Q128X	Q	-	1	0	MOBKL2B	27445167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	1.441000	0.47550	0.563000	0.77884	CAG		0.423	MOB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051974.2	NM_024761		9	84	0	0	0	1	0	9	84				
PSMD1	5707	broad.mit.edu	37	2	231943413	231943413	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:231943413T>C	ENST00000308696.6	+	10	1274	c.1112T>C	c.(1111-1113)aTa>aCa	p.I371T	PSMD1_ENST00000373635.4_Missense_Mutation_p.I371T|PSMD1_ENST00000409643.1_Missense_Mutation_p.I371T	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	371					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GCAACCGTTATAGCAAACTCT	0.358																																						ENST00000308696.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31						c.(1111-1113)aTa>aCa		proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	Bortezomib(DB00188)						128.0	122.0	124.0					2																	231943413		2203	4300	6503	SO:0001583	missense	5707				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr2:231943413T>C	D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.1112T>C	2.37:g.231943413T>C	ENSP00000309474:p.Ile371Thr					PSMD1_ENST00000409643.1_Missense_Mutation_p.I371T|PSMD1_ENST00000373635.4_Missense_Mutation_p.I371T	p.I371T	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	10	1274	+		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)	371					B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	ENST00000308696.6	37	c.1112T>C	CCDS2482.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.319849	0.60634	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	.	.	.	5.68	5.68	0.88126	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70219	0.3199	M	0.80028	2.48	0.80722	D	1	P;P	0.42483	0.781;0.724	P;B	0.44732	0.459;0.348	T	0.74087	-0.3778	9	0.51188	T	0.08	-20.4453	15.9218	0.79583	0.0:0.0:0.0:1.0	.	371;371	Q99460;Q99460-2	PSMD1_HUMAN;.	T	371	.	ENSP00000309474:I371T	I	+	2	0	PSMD1	231651657	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.974000	0.88039	2.156000	0.67533	0.477000	0.44152	ATA		0.358	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256958.2			14	69	0	0	0	1	0	14	69				
ELMO1	9844	broad.mit.edu	37	7	36934613	36934613	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:36934613C>A	ENST00000310758.4	-	17	2094	c.1447G>T	c.(1447-1449)Gtg>Ttg	p.V483L	ELMO1_ENST00000396045.3_Missense_Mutation_p.V3L|ELMO1_ENST00000448602.1_Missense_Mutation_p.V483L|ELMO1_ENST00000341056.3_Missense_Mutation_p.V185L|ELMO1_ENST00000396040.2_Missense_Mutation_p.V3L|ELMO1_ENST00000442504.1_Missense_Mutation_p.V483L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	483	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCCTTCACCACCTGCATTACC	0.498																																						ENST00000310758.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1447-1449)Gtg>Ttg		engulfment and cell motility 1							171.0	154.0	160.0					7																	36934613		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:36934613C>A	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1447G>T	7.37:g.36934613C>A	ENSP00000312185:p.Val483Leu					ELMO1_ENST00000396045.3_Missense_Mutation_p.V3L|ELMO1_ENST00000396040.2_Missense_Mutation_p.V3L|ELMO1_ENST00000448602.1_Missense_Mutation_p.V483L|ELMO1_ENST00000442504.1_Missense_Mutation_p.V483L|ELMO1_ENST00000341056.3_Missense_Mutation_p.V185L	p.V483L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN			17	2094	-			483			ELMO.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.1447G>T	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996451	0.93167	.	.	ENSG00000155849	ENST00000341056;ENST00000396045;ENST00000310758;ENST00000361912;ENST00000396040;ENST00000442504;ENST00000448602	T;T;T;T;T;T	0.59906	1.76;0.23;2.76;0.23;2.76;2.76	5.93	5.93	0.95920	Engulfment/cell motility, ELMO (1);	0.000000	0.85682	D	0.000000	T	0.77398	0.4124	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71048	-0.4705	10	0.16896	T	0.51	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	483	Q92556	ELMO1_HUMAN	L	185;3;483;387;3;483;483	ENSP00000342142:V185L;ENSP00000379360:V3L;ENSP00000312185:V483L;ENSP00000379355:V3L;ENSP00000406952:V483L;ENSP00000394458:V483L	ENSP00000312185:V483L	V	-	1	0	ELMO1	36901138	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.805000	0.96524	0.655000	0.94253	GTG		0.498	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		5	65	1	0	0.014758	1	0.0152315	5	65				
STX11	8676	broad.mit.edu	37	6	144507870	144507870	+	Missense_Mutation	SNP	G	G	A	rs373333798		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:144507870G>A	ENST00000367568.4	+	2	289	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	36					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CATCGTGTTCGAGACGGACCA	0.567									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(106-108)Gag>Aag		syntaxin 11							62.0	55.0	58.0					6																	144507870		2203	4300	6503	SO:0001583	missense	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144507870G>A	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.106G>A	6.37:g.144507870G>A	ENSP00000356540:p.Glu36Lys						p.E36K	NM_003764.3	NP_003755.2	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	289	+			36					E1P598|O75378|O95148|Q5TCL6	Missense_Mutation	SNP	ENST00000367568.4	37	c.106G>A	CCDS5205.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306776	0.81247	.	.	ENSG00000135604	ENST00000367568	T	0.48522	0.81	5.85	5.85	0.93711	Syntaxin, N-terminal (1);	0.150198	0.64402	D	0.000014	T	0.32734	0.0839	N	0.08118	0	0.53005	D	0.999966	D	0.64830	0.994	P	0.52554	0.702	T	0.33574	-0.9863	10	0.48119	T	0.1	-40.4075	19.7879	0.96445	0.0:0.0:1.0:0.0	.	36	O75558	STX11_HUMAN	K	36	ENSP00000356540:E36K	ENSP00000356540:E36K	E	+	1	0	STX11	144549563	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.458000	0.73509	2.771000	0.95319	0.561000	0.74099	GAG		0.567	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			6	47	0	0	0	1	0	6	47				
CEP97	79598	broad.mit.edu	37	3	101476833	101476833	+	Silent	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:101476833G>A	ENST00000341893.3	+	9	2135	c.1383G>A	c.(1381-1383)gaG>gaA	p.E461E	CEP97_ENST00000494050.1_Silent_p.E402E|CEP97_ENST00000327230.4_Silent_p.E461E			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	461	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CTGCAAATGAGAATTCTGTTC	0.423																																						ENST00000341893.3																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1381-1383)gaG>gaA		centrosomal protein 97kDa							90.0	91.0	90.0					3																	101476833		2203	4300	6503	SO:0001819	synonymous_variant	79598					centrosome|nucleus	protein binding	g.chr3:101476833G>A	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1383G>A	3.37:g.101476833G>A						CEP97_ENST00000494050.1_Silent_p.E402E|CEP97_ENST00000327230.4_Silent_p.E461E	p.E461E			Q8IW35	CEP97_HUMAN			9	2135	+			461			CEP110 binding.		B5MDY8|Q8NA71|Q9H5T9	Silent	SNP	ENST00000341893.3	37	c.1383G>A	CCDS2944.1																																																																																				0.423	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		8	47	0	0	0	1	0	8	47				
GPRASP2	114928	broad.mit.edu	37	X	101971752	101971752	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chrX:101971752C>A	ENST00000535209.1	+	4	2786	c.1955C>A	c.(1954-1956)tCt>tAt	p.S652Y	GPRASP2_ENST00000332262.5_Missense_Mutation_p.S652Y|GPRASP2_ENST00000543253.1_Missense_Mutation_p.S652Y			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	652						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TATCCATCCTCTAGAGTTAGG	0.368																																						ENST00000543253.1																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(1954-1956)tCt>tAt		G protein-coupled receptor associated sorting protein 2							94.0	81.0	86.0					X																	101971752		2203	4300	6503	SO:0001583	missense	114928							g.chrX:101971752C>A	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1955C>A	X.37:g.101971752C>A	ENSP00000437394:p.Ser652Tyr					GPRASP2_ENST00000535209.1_Missense_Mutation_p.S652Y|GPRASP2_ENST00000332262.5_Missense_Mutation_p.S652Y	p.S652Y	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1					5	2874	+								D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.1955C>A	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.495809	0.44352	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.30981	1.51;1.51;1.51	4.12	4.12	0.48240	Armadillo-like helical (1);Armadillo-type fold (1);	0.165248	0.29300	N	0.012551	T	0.50463	0.1617	M	0.67953	2.075	0.31325	N	0.685509	D	0.89917	1.0	D	0.91635	0.999	T	0.55927	-0.8063	10	0.59425	D	0.04	.	10.7955	0.46457	0.0:1.0:0.0:0.0	.	652	Q96D09	GASP2_HUMAN	Y	652	ENSP00000437872:S652Y;ENSP00000437394:S652Y;ENSP00000339057:S652Y	ENSP00000339057:S652Y	S	+	2	0	GPRASP2	101858408	0.990000	0.36364	0.980000	0.43619	0.903000	0.53119	2.922000	0.48860	2.312000	0.78011	0.513000	0.50165	TCT		0.368	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		4	48	1	0	0.00909568	1	0.00954058	4	48				
C6orf62	81688	broad.mit.edu	37	6	24716392	24716392	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:24716392T>C	ENST00000378119.4	-	2	2457	c.290A>G	c.(289-291)tAt>tGt	p.Y97C	C6orf62_ENST00000378102.3_Missense_Mutation_p.Y68C|C6orf62_ENST00000540769.1_Missense_Mutation_p.Y39C	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	97						intracellular (GO:0005622)				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						CATAGACTGATATCGAGGAGC	0.453																																						ENST00000378119.4																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						c.(289-291)tAt>tGt		chromosome 6 open reading frame 62							111.0	104.0	106.0					6																	24716392		2203	4300	6503	SO:0001583	missense	81688					intracellular		g.chr6:24716392T>C	AL136632	CCDS4559.1	6p22.1	2011-12-13			ENSG00000112308	ENSG00000112308			20998	protein-coding gene	gene with protein product	"""HBV X-transactivated protein 12"""					11230166	Standard	NM_030939		Approved	FLJ12619, DKFZP564G182, XTP12	uc003nel.3	Q9GZU0	OTTHUMG00000014361	ENST00000378119.4:c.290A>G	6.37:g.24716392T>C	ENSP00000367359:p.Tyr97Cys					C6orf62_ENST00000540769.1_Missense_Mutation_p.Y39C|C6orf62_ENST00000378102.3_Missense_Mutation_p.Y68C	p.Y97C	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN			2	2457	-			97					Q3LIB6|Q5JVZ2|Q5JVZ3|Q6IA63|Q9H1Z2	Missense_Mutation	SNP	ENST00000378119.4	37	c.290A>G	CCDS4559.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.238475	0.79800	.	.	ENSG00000112308	ENST00000378119;ENST00000540769;ENST00000378102	T;T;T	0.42900	0.96;0.96;0.96	5.83	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	N	0.19112	0.55	0.80722	D	1	D	0.58268	0.982	P	0.50490	0.642	T	0.11470	-1.0586	10	0.87932	D	0	-14.6202	12.427	0.55553	0.1258:0.0:0.0:0.8741	.	97	Q9GZU0	CF062_HUMAN	C	97;39;68	ENSP00000367359:Y97C;ENSP00000446225:Y39C;ENSP00000367342:Y68C	ENSP00000367342:Y68C	Y	-	2	0	C6orf62	24824371	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.573000	0.82421	1.015000	0.39444	0.482000	0.46254	TAT		0.453	C6orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040017.1	NM_030939		14	66	0	0	0	1	0	14	66				
DOCK7	85440	broad.mit.edu	37	1	63113907	63113907	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:63113907G>A	ENST00000340370.5	-	6	619	c.602C>T	c.(601-603)tCa>tTa	p.S201L	DOCK7_ENST00000251157.5_Missense_Mutation_p.S201L|DOCK7_ENST00000404627.2_Missense_Mutation_p.S201L	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	201					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.S201L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATCAGGAAGTGAATTTTTCAA	0.393																																						ENST00000251157.5																			1	Substitution - Missense(1)	p.S201L(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(601-603)tCa>tTa		dedicator of cytokinesis 7							86.0	88.0	87.0					1																	63113907		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63113907G>A		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.602C>T	1.37:g.63113907G>A	ENSP00000340742:p.Ser201Leu					DOCK7_ENST00000340370.5_Missense_Mutation_p.S201L|DOCK7_ENST00000404627.2_Missense_Mutation_p.S201L	p.S201L	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN			6	635	-			201					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.602C>T	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.915079	0.52546	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000404627	T;T;T	0.18016	2.24;2.24;2.24	4.88	4.88	0.63580	.	0.119530	0.64402	D	0.000015	T	0.09113	0.0225	L	0.33624	1.015	0.80722	D	1	B;B;B;B;B	0.33022	0.394;0.05;0.009;0.004;0.002	B;B;B;B;B	0.34180	0.177;0.075;0.026;0.026;0.003	T	0.10706	-1.0618	10	0.39692	T	0.17	.	18.2377	0.89956	0.0:0.0:1.0:0.0	.	201;201;201;201;201	Q96NI0;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3	.;.;.;.;.	L	201	ENSP00000251157:S201L;ENSP00000340742:S201L;ENSP00000384446:S201L	ENSP00000251157:S201L	S	-	2	0	DOCK7	62886495	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	9.601000	0.98297	2.517000	0.84864	0.563000	0.77884	TCA		0.393	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		7	73	0	0	0	1	0	7	73				
TNN	63923	broad.mit.edu	37	1	175097823	175097823	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:175097823G>A	ENST00000239462.4	+	15	3384	c.3271G>A	c.(3271-3273)Gat>Aat	p.D1091N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1091	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCTGCATGGCGATGCCAGCCG	0.602																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(3271-3273)Gat>Aat		tenascin N							99.0	94.0	95.0					1																	175097823		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175097823G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3271G>A	1.37:g.175097823G>A	ENSP00000239462:p.Asp1091Asn						p.D1091N	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	15	3384	+		Breast(1374;0.000962)	1091			Fibrinogen C-terminal.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.3271G>A	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785264	0.49997	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.76578	-1.03	5.11	5.11	0.69529	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.049663	0.85682	D	0.000000	T	0.67590	0.2909	L	0.38953	1.18	0.42806	D	0.993945	P	0.37731	0.607	B	0.33799	0.17	T	0.67772	-0.5584	10	0.28530	T	0.3	.	15.2509	0.73545	0.0:0.0:1.0:0.0	.	1091	Q9UQP3	TENN_HUMAN	N	1091;914	ENSP00000239462:D1091N	ENSP00000239462:D1091N	D	+	1	0	TNN	173364446	1.000000	0.71417	0.051000	0.19133	0.154000	0.21943	3.010000	0.49559	2.385000	0.81259	0.462000	0.41574	GAT		0.602	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		9	83	0	0	0	1	0	9	83				
FAM66D	100132923	broad.mit.edu	37	8	11986483	11986483	+	RNA	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr8:11986483C>G	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		CCCAGGACAGCATGTAGTTGG	0.557																																						ENST00000434078.2																			0																																																			100132923							g.chr8:11986483C>G			8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		8.37:g.11986483C>G								NR_027425.1						0	608	+									RNA	SNP	ENST00000434078.2	37																																																																																						0.557	FAM66D-201	KNOWN	basic	antisense	antisense		NR_027425		5	40	0	0	0	1	0	5	40				
WDR59	79726	broad.mit.edu	37	16	74949788	74949788	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr16:74949788T>C	ENST00000262144.6	-	13	1334	c.1204A>G	c.(1204-1206)Atc>Gtc	p.I402V		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	402	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.									breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						ACATTCCGGATTTGCACATTG	0.448																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(1204-1206)Atc>Gtc		WD repeat domain 59							109.0	96.0	100.0					16																	74949788		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74949788T>C	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1204A>G	16.37:g.74949788T>C	ENSP00000262144:p.Ile402Val						p.I402V	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			13	1334	-			402			RWD.		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.1204A>G	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.773856	0.90108	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.71222	-0.55	5.81	5.81	0.92471	RWD domain (2);	0.000000	0.85682	D	0.000000	D	0.82893	0.5136	M	0.72894	2.215	0.80722	D	1	P;P	0.51791	0.948;0.803	D;P	0.67103	0.949;0.847	D	0.83812	0.0242	10	0.54805	T	0.06	-25.2058	16.1708	0.81812	0.0:0.0:0.0:1.0	.	402;402	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	V	402;381	ENSP00000262144:I402V	ENSP00000262144:I402V	I	-	1	0	WDR59	73507289	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.686000	0.84128	2.225000	0.72522	0.533000	0.62120	ATC		0.448	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		12	84	0	0	0	1	0	12	84				
ARHGAP28	79822	broad.mit.edu	37	18	6859811	6859811	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr18:6859811A>G	ENST00000383472.4	+	5	745	c.641A>G	c.(640-642)gAt>gGt	p.D214G	ARHGAP28_ENST00000531294.1_Splice_Site_p.N50S|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.D214G|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.D55G|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.D55G|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.D55G|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.D162G|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.D37G			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	214					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ATTTAGCCAGATGATGCTTCT	0.423																																						ENST00000419673.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37						c.(163-165)gAt>gGt		Rho GTPase activating protein 28							215.0	207.0	210.0					18																	6859811		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6859811A>G	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.641A>G	18.37:g.6859811A>G	ENSP00000372964:p.Asp214Gly					ARHGAP28_ENST00000314319.3_Missense_Mutation_p.D55G|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.D162G|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.D55G|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.D214G|ARHGAP28_ENST00000531294.1_Splice_Site_p.N50_splice|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.D214G|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.D37G	p.D55G	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN			4	381	+		Colorectal(10;0.168)	0					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.164A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.25|10.25	1.297365|1.297365	0.23650|0.23650	.|.	.|.	ENSG00000088756|ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472|ENST00000531294	T;T;T;T;T|T	0.22743|0.06371	1.94;1.94;3.2;3.2;3.12|3.31	4.32|4.32	1.95|1.95	0.26073|0.26073	.|.	1.097040|.	0.06841|.	N|.	0.795673|.	T|T	0.04497|0.04497	0.0123|0.0123	L|L	0.28115|0.28115	0.83|0.83	0.26665|0.26665	N|N	0.971838|0.971838	B;B;B|.	0.10296|.	0.0;0.003;0.0|.	B;B;B|.	0.06405|.	0.0;0.002;0.002|.	T|T	0.45205|0.45205	-0.9277|-0.9277	10|7	0.21014|0.13470	T|T	0.42|0.59	.|.	5.8458|5.8458	0.18665|0.18665	0.7894:0.0:0.2106:0.0|0.7894:0.0:0.2106:0.0	.|.	46;55;162|.	E9PRP2;F6VKJ9;Q9P2N2-2|.	.;.;.|.	G|S	214;162;55;55;55;46;37|50	ENSP00000382963:D214G;ENSP00000262227:D162G;ENSP00000392660:D55G;ENSP00000313506:D55G;ENSP00000406907:D55G|ENSP00000437262:N50S	ENSP00000262227:D162G|ENSP00000437262:N50S	D|N	+|+	2|2	0|0	ARHGAP28|ARHGAP28	6849811|6849811	0.866000|0.866000	0.29940|0.29940	0.974000|0.974000	0.42286|0.42286	0.812000|0.812000	0.45895|0.45895	0.849000|0.849000	0.27723|0.27723	0.445000|0.445000	0.26639|0.26639	-0.376000|-0.376000	0.06991|0.06991	GAT|AAT		0.423	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		9	128	0	0	0	1	0	9	128				
RARRES2	5919	broad.mit.edu	37	7	150037234	150037234	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:150037234C>T	ENST00000466675.1	-	2	1267	c.234G>A	c.(232-234)cgG>cgA	p.R78R	RARRES2_ENST00000482669.1_Silent_p.R78R|RARRES2_ENST00000223271.3_Silent_p.R78R|RP4-584D14.7_ENST00000563946.1_RNA			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	78					brown fat cell differentiation (GO:0050873)|chemotaxis (GO:0006935)|embryonic digestive tract development (GO:0048566)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of protein phosphorylation (GO:0001934)|regulation of lipid catabolic process (GO:0050994)|retinoid metabolic process (GO:0001523)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			AGTCCCTCTTCCGGCAGCTTG	0.582																																						ENST00000466675.1																			0				endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5						c.(232-234)cgG>cgA		retinoic acid receptor responder (tazarotene induced) 2							353.0	367.0	362.0					7																	150037234		2203	4300	6503	SO:0001819	synonymous_variant	5919				embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding	g.chr7:150037234C>T	U77594	CCDS5902.1	7q36.1	2013-02-25			ENSG00000106538	ENSG00000106538		"""Endogenous ligands"""	9868	protein-coding gene	gene with protein product	"""chemerin"""	601973				9270552, 17767914	Standard	NM_002889		Approved	TIG2, HP10433	uc003wha.3	Q99969	OTTHUMG00000158325	ENST00000466675.1:c.234G>A	7.37:g.150037234C>T						RARRES2_ENST00000223271.3_Silent_p.R78R|RARRES2_ENST00000482669.1_Silent_p.R78R	p.R78R			Q99969	RARR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		2	1267	-			78					Q7LE02	Silent	SNP	ENST00000466675.1	37	c.234G>A	CCDS5902.1																																																																																				0.582	RARRES2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350693.1			41	488	0	0	0	1	0	41	488				
PAK3	5063	broad.mit.edu	37	X	110385355	110385355	+	Silent	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chrX:110385355G>A	ENST00000372010.1	+	6	649	c.207G>A	c.(205-207)gaG>gaA	p.E69E	PAK3_ENST00000360648.4_Silent_p.E69E|PAK3_ENST00000262836.4_Silent_p.E69E|PAK3_ENST00000518291.1_Silent_p.E69E|PAK3_ENST00000446737.1_Silent_p.E69E|PAK3_ENST00000417227.1_Silent_p.E69E|PAK3_ENST00000425146.1_Silent_p.E69E|PAK3_ENST00000519681.1_Silent_p.E69E|PAK3_ENST00000372007.5_Silent_p.E69E			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	69	Autoregulatory region. {ECO:0000250}.|GTPase-binding. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGCGCCCAGAGATCTCTCTTC	0.408										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(205-207)gaG>gaA		p21 protein (Cdc42/Rac)-activated kinase 3							185.0	182.0	183.0					X																	110385355		2203	4300	6503	SO:0001819	synonymous_variant	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110385355G>A	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.207G>A	X.37:g.110385355G>A		TSP Lung(19;0.15)				PAK3_ENST00000417227.1_Silent_p.E69E|PAK3_ENST00000372007.4_Silent_p.E69E|PAK3_ENST00000360648.4_Silent_p.E69E|PAK3_ENST00000262836.4_Silent_p.E69E|PAK3_ENST00000518291.1_Silent_p.E69E|PAK3_ENST00000446737.1_Silent_p.E69E|PAK3_ENST00000372010.1_Silent_p.E69E|PAK3_ENST00000425146.1_Silent_p.E69E	p.E69E			O75914	PAK3_HUMAN			6	649	+			69			Autoregulatory region (By similarity).|GTPase-binding (By similarity).		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Silent	SNP	ENST00000372010.1	37	c.207G>A	CCDS48153.1																																																																																				0.408	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		23	63	0	0	0	1	0	23	63				
RAD17	5884	broad.mit.edu	37	5	68669856	68669856	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:68669856C>T	ENST00000509734.1	+	4	920	c.242C>T	c.(241-243)tCa>tTa	p.S81L	RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000354868.5_Missense_Mutation_p.S70L|RAD17_ENST00000354312.3_Missense_Mutation_p.S70L|RAD17_ENST00000305138.4_Missense_Mutation_p.S70L|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000282891.6_Intron|RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000345306.6_Missense_Mutation_p.S70L|RAD17_ENST00000380774.3_Missense_Mutation_p.S81L|RAD17_ENST00000361732.2_Missense_Mutation_p.S70L			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	81					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TTAGAAAATTCAAAAGAATAT	0.328								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(241-243)tCa>tTa	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							70.0	77.0	75.0					5																	68669856		2202	4300	6502	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68669856C>T	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.242C>T	5.37:g.68669856C>T	ENSP00000426191:p.Ser81Leu					RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000380774.3_Missense_Mutation_p.S81L|RAD17_ENST00000361732.2_Missense_Mutation_p.S70L|RAD17_ENST00000354868.5_Missense_Mutation_p.S70L|RAD17_ENST00000354312.3_Missense_Mutation_p.S70L|RAD17_ENST00000345306.6_Missense_Mutation_p.S70L|RAD17_ENST00000305138.4_Missense_Mutation_p.S70L|RAD17_ENST00000282891.6_Intron|RAD17_ENST00000358030.2_5'UTR	p.S81L			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	4	920	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	81					A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.242C>T	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515624	0.44763	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000354312;ENST00000345306;ENST00000506564;ENST00000305138;ENST00000380774	T;T;T;T;T;T;T;T	0.48522	2.13;2.11;2.13;2.13;2.13;0.81;2.13;2.11	5.49	3.69	0.42338	.	0.423372	0.25154	N	0.032725	T	0.42245	0.1194	L	0.60455	1.87	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.30937	-0.9961	10	0.26408	T	0.33	-19.0246	11.8518	0.52415	0.0:0.8456:0.0:0.1544	.	81;70	O75943;O75943-2	RAD17_HUMAN;.	L	70;81;70;70;70;70;70;81	ENSP00000355226:S70L;ENSP00000426191:S81L;ENSP00000346938:S70L;ENSP00000346271:S70L;ENSP00000311227:S70L;ENSP00000424696:S70L;ENSP00000303134:S70L;ENSP00000370151:S81L	ENSP00000303134:S70L	S	+	2	0	RAD17	68705612	0.998000	0.40836	0.994000	0.49952	0.910000	0.53928	0.522000	0.22909	1.467000	0.48044	0.563000	0.77884	TCA		0.328	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		5	51	0	0	0	1	0	5	51				
MUTYH	4595	broad.mit.edu	37	1	45797745	45797745	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:45797745T>A	ENST00000372098.3	-	11	1071	c.938A>T	c.(937-939)cAg>cTg	p.Q313L	MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000355498.2_Missense_Mutation_p.Q288L|MUTYH_ENST00000372100.5_Missense_Mutation_p.Q299L|MUTYH_ENST00000372115.3_Missense_Mutation_p.Q302L|MUTYH_ENST00000528013.2_Missense_Mutation_p.Q302L|MUTYH_ENST00000372110.3_Missense_Mutation_p.Q303L|MUTYH_ENST00000354383.6_Missense_Mutation_p.Q289L|MUTYH_ENST00000450313.1_Missense_Mutation_p.Q316L|MUTYH_ENST00000372104.1_Missense_Mutation_p.Q288L|MUTYH_ENST00000448481.1_Missense_Mutation_p.Q299L|MUTYH_ENST00000456914.2_Missense_Mutation_p.Q288L|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000488731.2_Intron			Q9UIF7	MUTYH_HUMAN	mutY homolog	313					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GGCTAAGAGCTGTTCCTGCTC	0.597			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													ENST00000450313.1			yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	Mis	mutY homolog (E. coli)			E		colorectal			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19						c.(946-948)cAg>cTg	Base excision repair (BER), DNA glycosylases	mutY homolog							82.0	79.0	80.0					1																	45797745		2203	4300	6503	SO:0001583	missense	4595	MUTYH-associated polyposis	Familial Cancer Database	MAP, MYH-associated polyposis	depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding	g.chr1:45797745T>A	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.938A>T	1.37:g.45797745T>A	ENSP00000361170:p.Gln313Leu					MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000456914.2_Missense_Mutation_p.Q288L|MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000354383.6_Missense_Mutation_p.Q289L|MUTYH_ENST00000448481.1_Missense_Mutation_p.Q299L|MUTYH_ENST00000372098.3_Missense_Mutation_p.Q313L|MUTYH_ENST00000372100.5_Missense_Mutation_p.Q299L|MUTYH_ENST00000372104.1_Missense_Mutation_p.Q288L|MUTYH_ENST00000372115.3_Missense_Mutation_p.Q302L|MUTYH_ENST00000355498.2_Missense_Mutation_p.Q288L|MUTYH_ENST00000372110.3_Missense_Mutation_p.Q303L|MUTYH_ENST00000531105.1_Intron	p.Q316L	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN			11	1162	-	Acute lymphoblastic leukemia(166;0.155)		313					D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	ENST00000372098.3	37	c.947A>T	CCDS520.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.890|0.890	-0.725802|-0.725802	0.03158|0.03158	.|.	.|.	ENSG00000132781|ENSG00000132781	ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000450313;ENST00000372100;ENST00000525481;ENST00000412971|ENST00000529892	T;T;T;T;T;T;T;T;T;T;T|.	0.22743|.	3.23;3.22;3.23;3.22;3.23;3.22;3.22;3.22;3.21;3.22;1.94|.	5.3|5.3	1.77|1.77	0.24775|0.24775	Helix-turn-helix, base-excision DNA repair, C-terminal (1);|.	0.860279|.	0.10518|.	N|.	0.665285|.	T|T	0.33614|0.33614	0.0869|0.0869	L|L	0.43152|0.43152	1.355|1.355	0.19775|0.19775	N|N	0.999959|0.999959	B;B;B;B;B;B;B|.	0.06786|.	0.001;0.0;0.001;0.0;0.0;0.0;0.0|.	B;B;B;B;B;B;B|.	0.09377|.	0.002;0.001;0.004;0.001;0.001;0.001;0.001|.	T|T	0.24728|0.24728	-1.0152|-1.0152	10|5	0.29301|.	T|.	0.29|.	-8.3332|-8.3332	3.7182|3.7182	0.08446|0.08446	0.1612:0.2498:0.0:0.589|0.1612:0.2498:0.0:0.589	.|.	316;313;303;313;302;196;289|.	E5KP25;E5KP26;Q9UIF7-2;Q9UIF7;E5KP27;D3DPZ6;E5KP28|.	.;.;.;MUTYH_HUMAN;.;.;.|.	L|C	288;299;288;289;288;313;303;302;316;299;160;160|43	ENSP00000361176:Q288L;ENSP00000409718:Q299L;ENSP00000407590:Q288L;ENSP00000346354:Q289L;ENSP00000347685:Q288L;ENSP00000361170:Q313L;ENSP00000361182:Q303L;ENSP00000361187:Q302L;ENSP00000408176:Q316L;ENSP00000361172:Q299L;ENSP00000410263:Q160L|.	ENSP00000346354:Q289L|.	Q|S	-|-	2|1	0|0	MUTYH|MUTYH	45570332|45570332	0.001000|0.001000	0.12720|0.12720	0.272000|0.272000	0.24630|0.24630	0.011000|0.011000	0.07611|0.07611	0.097000|0.097000	0.15168|0.15168	0.138000|0.138000	0.18790|0.18790	-0.994000|-0.994000	0.02522|0.02522	CAG|AGC		0.597	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1	NM_012222		8	80	0	0	0	1	0	8	80				
IGSF3	3321	broad.mit.edu	37	1	117122188	117122188	+	Missense_Mutation	SNP	G	G	A	rs575047260		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:117122188G>A	ENST00000369486.3	-	10	3925	c.3160C>T	c.(3160-3162)Cgc>Tgc	p.R1054C	IGSF3_ENST00000369483.1_Missense_Mutation_p.R1074C|IGSF3_ENST00000318837.6_Missense_Mutation_p.R1074C	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1054	Ig-like C2-type 8.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTCTGGAAGCGAAGCCTGCCC	0.647													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19902	0.0		0.0	False		,,,				2504	0.0					ENST00000369486.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62						c.(3160-3162)Cgc>Tgc		immunoglobulin superfamily, member 3							47.0	48.0	48.0					1																	117122188		2203	4300	6503	SO:0001583	missense	3321					integral to membrane		g.chr1:117122188G>A	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.3160C>T	1.37:g.117122188G>A	ENSP00000358498:p.Arg1054Cys					IGSF3_ENST00000369483.1_Missense_Mutation_p.R1074C|IGSF3_ENST00000318837.6_Missense_Mutation_p.R1074C	p.R1054C	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	10	3925	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	1054			Ig-like C2-type 8.		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.3160C>T	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462506	0.43736	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.23348	1.91;1.91;1.91	4.67	3.76	0.43208	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.357661	0.31113	N	0.008221	T	0.06962	0.0177	N	0.17082	0.46	0.48511	D	0.999664	B;B	0.18013	0.009;0.025	B;B	0.11329	0.003;0.006	T	0.08269	-1.0730	10	0.46703	T	0.11	-24.28	10.5815	0.45259	0.0944:0.0:0.9056:0.0	.	1054;1074	O75054;A6NJZ6	IGSF3_HUMAN;.	C	1054;1074;1074	ENSP00000358498:R1054C;ENSP00000358495:R1074C;ENSP00000321184:R1074C	ENSP00000321184:R1074C	R	-	1	0	IGSF3	116923711	1.000000	0.71417	0.988000	0.46212	0.938000	0.57974	5.614000	0.67695	1.186000	0.42985	0.462000	0.41574	CGC		0.647	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		11	49	0	0	0	1	0	11	49				
API5	8539	broad.mit.edu	37	11	43333735	43333735	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:43333735C>T	ENST00000531273.1	+	1	197	c.58C>T	c.(58-60)Caa>Taa	p.Q20*	API5_ENST00000455725.2_5'UTR|API5_ENST00000420461.2_Nonsense_Mutation_p.Q20*|API5_ENST00000534695.1_Nonsense_Mutation_p.Q20*|API5_ENST00000534600.1_Nonsense_Mutation_p.Q20*|API5_ENST00000378852.3_Nonsense_Mutation_p.Q20*			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	20	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						TGCCACGGAGCAAGTGGGCCA	0.677											OREG0020900	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(1;98 122 5625 20895 49453)	ENST00000378852.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(58-60)Caa>Taa		apoptosis inhibitor 5							36.0	34.0	35.0					11																	43333735		2203	4300	6503	SO:0001587	stop_gained	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43333735C>T	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.58C>T	11.37:g.43333735C>T	ENSP00000431391:p.Gln20*		OREG0020900	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	915	API5_ENST00000534695.1_Nonsense_Mutation_p.Q20*|API5_ENST00000455725.2_5'UTR|API5_ENST00000420461.2_Nonsense_Mutation_p.Q20*|API5_ENST00000534600.1_Nonsense_Mutation_p.Q20*|API5_ENST00000531273.1_Nonsense_Mutation_p.Q20*	p.Q20*	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN			1	183	+			20					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Nonsense_Mutation	SNP	ENST00000531273.1	37	c.58C>T	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	C	38	6.733347	0.97796	.	.	ENSG00000166181	ENST00000534695;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600	.	.	.	5.1	5.1	0.69264	.	0.246102	0.43579	D	0.000554	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.9515	8.9222	0.35619	0.1658:0.6738:0.1605:0.0	.	.	.	.	X	20	.	ENSP00000368129:Q20X	Q	+	1	0	API5	43290311	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.272000	0.43373	2.364000	0.80123	0.542000	0.68232	CAA		0.677	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		6	31	0	0	0	1	0	6	31				
ZNF567	163081	broad.mit.edu	37	19	37211472	37211472	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:37211472C>T	ENST00000536254.2	+	6	2068	c.1846C>T	c.(1846-1848)Ccc>Tcc	p.P616S	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Intron|ZNF567_ENST00000585696.1_Missense_Mutation_p.P585S|ZNF567_ENST00000588311.1_Intron|ZNF567_ENST00000360729.4_Missense_Mutation_p.P585S			Q8N184	ZN567_HUMAN	zinc finger protein 567	616					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGGTGAGAAACCCTATGTTTG	0.373																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1753-1755)Ccc>Tcc		zinc finger protein 567							56.0	60.0	59.0					19																	37211472		2203	4300	6503	SO:0001583	missense	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37211472C>T	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.1846C>T	19.37:g.37211472C>T	ENSP00000441838:p.Pro616Ser					ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Intron|ZNF567_ENST00000360729.4_Missense_Mutation_p.P585S|ZNF567_ENST00000392163.2_Intron|ZNF567_ENST00000536254.2_Missense_Mutation_p.P616S	p.P585S			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2983	+	Esophageal squamous(110;0.198)		616					B3KX49|Q6N044	Missense_Mutation	SNP	ENST00000536254.2	37	c.1753C>T		.	.	.	.	.	.	.	.	.	.	C	20.4	3.988910	0.74589	.	.	ENSG00000189042	ENST00000536254;ENST00000378686;ENST00000360729;ENST00000423498	T;T	0.28454	1.61;1.61	4.91	4.91	0.64330	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42821	D	0.000657	T	0.46210	0.1381	L	0.37897	1.145	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.42137	-0.9469	10	0.87932	D	0	.	15.9796	0.80097	0.0:1.0:0.0:0.0	.	616	Q8N184	ZN567_HUMAN	S	616;560;585;615	ENSP00000441838:P616S;ENSP00000353957:P585S	ENSP00000353957:P585S	P	+	1	0	ZNF567	41903312	0.057000	0.20700	0.999000	0.59377	0.942000	0.58702	2.048000	0.41278	2.717000	0.92951	0.555000	0.69702	CCC		0.373	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		5	33	0	0	0	1	0	5	33				
PIPSL	266971	broad.mit.edu	37	10	95720490	95720490	+	RNA	SNP	C	C	T	rs12570608	byFrequency	TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:95720490C>T	ENST00000480546.1	-	0	807					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										AGAGGCTTCTCTCGCTCTTTC	0.453													C|||	786	0.156949	0.0113	0.1182	5008	,	,		18142	0.2282		0.2336	False		,,,				2504	0.229					ENST00000480546.1																			0																																																			266971							g.chr10:95720490C>T	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95720490C>T								NR_002319.2						0	807	-								Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																						0.453	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		4	65	0	0	0	1	0	4	65				
MYH2	4620	broad.mit.edu	37	17	10446477	10446477	+	Splice_Site	SNP	C	C	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:10446477C>A	ENST00000245503.5	-	9	1127	c.743G>T	c.(742-744)gGt>gTt	p.G248V	MYH2_ENST00000532183.2_Splice_Site_p.G248V|MYH2_ENST00000397183.2_Splice_Site_p.G248V|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	248	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GATGAATTTACCCTTGAAATA	0.274																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.e9-1		myosin, heavy chain 2, skeletal muscle, adult							62.0	71.0	68.0					17																	10446477		2202	4293	6495	SO:0001630	splice_region_variant	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10446477C>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.742-1G>T	17.37:g.10446477C>A						MYH2_ENST00000532183.1_Splice_Site_p.G248_splice|MYH2_ENST00000397183.2_Splice_Site_p.G248_splice|CTC-297N7.7_ENST00000587182.1_RNA	p.G248_splice	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			9	1127	-			248			Myosin head-like.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Splice_Site	SNP	ENST00000245503.5	37	c.741_splice	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628505	0.87560	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	D;D;D	0.92911	-3.13;-3.13;-3.13	4.87	4.87	0.63330	Myosin head, motor domain (3);	0.000000	0.40144	U	0.001180	D	0.98052	0.9358	H	0.99573	4.635	0.80722	D	1	D;B	0.89917	1.0;0.165	D;P	0.97110	1.0;0.577	D	0.99647	1.0990	10	0.87932	D	0	.	17.185	0.86863	0.0:1.0:0.0:0.0	.	248;248	Q567P6;Q9UKX2	.;MYH2_HUMAN	V	248	ENSP00000433944:G248V;ENSP00000245503:G248V;ENSP00000380367:G248V	ENSP00000245503:G248V	G	-	2	0	MYH2	10387202	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.443000	0.80521	2.539000	0.85634	0.561000	0.74099	GGT		0.274	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	Missense_Mutation	6	70	1	0	0.0293803	1	0.0300021	6	70				
PEX5L	51555	broad.mit.edu	37	3	179526100	179526100	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:179526100G>A	ENST00000467460.1	-	13	1808	c.1478C>T	c.(1477-1479)gCa>gTa	p.A493V	PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.A301V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A385V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A450V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A458V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A491V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A434V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A385V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A469V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	493					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGCATCTATTGCTCTATTAAA	0.453																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1477-1479)gCa>gTa		peroxisomal biogenesis factor 5-like							103.0	99.0	100.0					3																	179526100		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179526100G>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1478C>T	3.37:g.179526100G>A	ENSP00000419975:p.Ala493Val					PEX5L_ENST00000465751.1_Missense_Mutation_p.A469V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A385V|PEX5L_ENST00000392649.3_Missense_Mutation_p.A385V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A458V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A491V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Missense_Mutation_p.A301V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A450V|PEX5L_ENST00000472994.1_Missense_Mutation_p.A434V	p.A493V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		13	1808	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		493					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.1478C>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	36	5.626153	0.96671	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	6.17	6.17	0.99709	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.97238	0.9097	H	0.98594	4.275	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.87578	0.991;0.991;0.998;0.996;0.985;0.998	D	0.97720	1.0196	10	0.87932	D	0	-18.1782	20.8794	0.99867	0.0:0.0:1.0:0.0	.	434;469;385;491;458;493	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	V	493;491;458;491;385;301;450;381;434;385;469	ENSP00000419975:A493V;ENSP00000263962:A491V;ENSP00000418440:A458V;ENSP00000376420:A385V;ENSP00000418665:A301V;ENSP00000420555:A450V;ENSP00000418054:A434V;ENSP00000417270:A385V;ENSP00000419348:A469V	ENSP00000263962:A491V	A	-	2	0	PEX5L	181008794	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.776000	0.99001	2.941000	0.99782	0.655000	0.94253	GCA		0.453	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		5	55	0	0	0	1	0	5	55				
ADAMTSL1	92949	broad.mit.edu	37	9	18777600	18777600	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr9:18777600C>A	ENST00000380548.4	+	19	3712	c.3373C>A	c.(3373-3375)Cgc>Agc	p.R1125S		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1125						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCCCTCGGAGCGCAGGACTTC	0.667																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(3373-3375)Cgc>Agc		ADAMTS-like 1							26.0	30.0	29.0					9																	18777600		2059	4190	6249	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18777600C>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3373C>A	9.37:g.18777600C>A	ENSP00000369921:p.Arg1125Ser						p.R1125S	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	19	3712	+			1125					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.3373C>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	4.939	0.174539	0.09391	.	.	ENSG00000178031	ENST00000380548	T	0.61980	0.06	6.03	4.13	0.48395	.	0.071793	0.08080	U	1.000000	T	0.43433	0.1247	N	0.14661	0.345	0.37561	D	0.919055	B	0.06786	0.001	B	0.04013	0.001	T	0.20338	-1.0278	10	0.11182	T	0.66	.	10.678	0.45797	0.2606:0.626:0.1134:0.0	.	1125	Q8N6G6	ATL1_HUMAN	S	1125	ENSP00000369921:R1125S	ENSP00000369921:R1125S	R	+	1	0	ADAMTSL1	18767600	0.359000	0.24955	0.914000	0.36105	0.005000	0.04900	0.434000	0.21494	2.868000	0.98415	0.557000	0.71058	CGC		0.667	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			4	23	1	0	1	1	1	4	23				
SNHG14	104472715	broad.mit.edu	37	15	25457043	25457043	+	RNA	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr15:25457043G>A	ENST00000424208.1	+	0	2516				SNHG14_ENST00000450809.1_RNA|SNORD115-22_ENST00000364456.1_RNA|SNORD115-24_ENST00000363528.1_RNA|SNORD115-23_ENST00000364461.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGAGAAATTTGGAGGAGGATG	0.507																																						ENST00000424208.1																			0																				203.0	212.0	209.0					15																	25457043		876	1991	2867			104472715							g.chr15:25457043G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25457043G>A						SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	2516	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.507	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			23	183	0	0	0	1	0	23	183				
OR6M1	390261	broad.mit.edu	37	11	123676215	123676215	+	Silent	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:123676215G>A	ENST00000309154.2	-	1	880	c.843C>T	c.(841-843)ctC>ctT	p.L281L		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AAGGGTTCAGGAGAGGGGTCA	0.473																																						ENST00000309154.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29						c.(841-843)ctC>ctT		olfactory receptor, family 6, subfamily M, member 1							125.0	120.0	122.0					11																	123676215		2202	4299	6501	SO:0001819	synonymous_variant	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676215G>A	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.843C>T	11.37:g.123676215G>A							p.L281L	NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	880	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	281					B2RNK0|Q6IEW9|Q96R37	Silent	SNP	ENST00000309154.2	37	c.843C>T	CCDS31696.1																																																																																				0.473	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		17	83	0	0	0	1	0	17	83				
GCFC2	6936	broad.mit.edu	37	2	75891820	75891820	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:75891820T>C	ENST00000321027.3	-	17	2451	c.2318A>G	c.(2317-2319)cAt>cGt	p.H773R	MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000409857.3_Missense_Mutation_p.H735R|RP11-342K6.1_ENST00000604845.1_RNA|GCFC2_ENST00000541687.1_3'UTR|MRPL19_ENST00000409374.1_Intron	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	773					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)										TGATTTAAGATGGTCTAGGTG	0.303																																						ENST00000321027.3																			0											c.(2317-2319)cAt>cGt		GC-rich sequence DNA-binding factor 2							69.0	72.0	71.0					2																	75891820		2203	4299	6502	SO:0001583	missense	6936				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:75891820T>C	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.2318A>G	2.37:g.75891820T>C	ENSP00000318690:p.His773Arg					MRPL19_ENST00000358788.6_Intron|MRPL19_ENST00000409374.1_Intron|GCFC2_ENST00000409857.3_Missense_Mutation_p.H735R|GCFC2_ENST00000541687.1_3'UTR	p.H773R	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCF_HUMAN			17	2451	-			773					A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	c.2318A>G	CCDS1961.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.657473	0.47467	.	.	ENSG00000005436	ENST00000321027;ENST00000409857;ENST00000427862	T;T;T	0.49720	2.34;2.35;0.77	4.61	0.646	0.17789	.	1.052620	0.07490	N	0.905454	T	0.36908	0.0984	L	0.46157	1.445	0.21604	N	0.999628	B	0.29432	0.244	B	0.17098	0.017	T	0.30707	-0.9969	10	0.66056	D	0.02	-1.2708	5.3099	0.15825	0.0:0.0996:0.3659:0.5345	.	773	P16383	GCF_HUMAN	R	773;735;191	ENSP00000318690:H773R;ENSP00000386552:H735R;ENSP00000409340:H191R	ENSP00000318690:H773R	H	-	2	0	C2orf3	75745328	1.000000	0.71417	0.104000	0.21259	0.938000	0.57974	1.411000	0.34702	0.017000	0.15025	0.383000	0.25322	CAT		0.303	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203		4	22	0	0	0	1	0	4	22				
PDHA2	5161	broad.mit.edu	37	4	96762006	96762006	+	Silent	SNP	A	A	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:96762006A>T	ENST00000295266.4	+	1	768	c.705A>T	c.(703-705)gcA>gcT	p.A235A		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	235					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		AGAGAGCAGCAGCCAGCCCTG	0.433																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(703-705)gcA>gcT		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						106.0	110.0	109.0					4																	96762006		2203	4300	6503	SO:0001819	synonymous_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762006A>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.705A>T	4.37:g.96762006A>T							p.A235A	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	768	+		Hepatocellular(203;0.114)	235					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	c.705A>T	CCDS3644.1																																																																																				0.433	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			8	81	0	0	0	1	0	8	81				
CTTNBP2NL	55917	broad.mit.edu	37	1	112997128	112997128	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:112997128G>A	ENST00000271277.6	+	5	613	c.388G>A	c.(388-390)Gat>Aat	p.D130N		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	130					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCTGAAGGAGATGATGTCAC	0.418																																						ENST00000271277.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(388-390)Gat>Aat		CTTNBP2 N-terminal like							128.0	119.0	122.0					1																	112997128		2203	4300	6503	SO:0001583	missense	55917					actin cytoskeleton	protein binding	g.chr1:112997128G>A	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.388G>A	1.37:g.112997128G>A	ENSP00000271277:p.Asp130Asn						p.D130N	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	613	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	130					B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	37	c.388G>A	CCDS845.1	.	.	.	.	.	.	.	.	.	.	G	35	5.559177	0.96514	.	.	ENSG00000143079	ENST00000271277;ENST00000441739	T;T	0.62232	0.04;0.04	6.04	6.04	0.98038	Cortactin-binding protein-2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.79598	0.4473	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78851	-0.2041	10	0.52906	T	0.07	-23.0629	20.1899	0.98228	0.0:0.0:1.0:0.0	.	130	Q9P2B4	CT2NL_HUMAN	N	130	ENSP00000271277:D130N;ENSP00000390976:D130N	ENSP00000271277:D130N	D	+	1	0	CTTNBP2NL	112798651	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.389000	0.97243	2.873000	0.98535	0.563000	0.77884	GAT		0.418	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		29	100	0	0	0	1	0	29	100				
NRG3	10718	broad.mit.edu	37	10	84745220	84745220	+	Silent	SNP	C	C	T	rs376987579		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:84745220C>T	ENST00000404547.1	+	10	2022	c.2022C>T	c.(2020-2022)taC>taT	p.Y674Y	NRG3_ENST00000372142.2_Silent_p.Y453Y|NRG3_ENST00000556918.1_Silent_p.Y480Y|NRG3_ENST00000545131.1_Silent_p.Y300Y|NRG3_ENST00000537893.1_Silent_p.Y300Y|NRG3_ENST00000372141.2_Silent_p.Y650Y|NRG3_ENST00000404576.2_Silent_p.Y454Y			P56975	NRG3_HUMAN	neuregulin 3	674					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.Y453Y(1)|p.Y650Y(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CAGAAGACTACGAACTGGCCA	0.488																																						ENST00000372142.2																			2	Substitution - coding silent(2)	p.Y453Y(1)|p.Y650Y(1)	endometrium(2)	breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1357-1359)taC>taT		neuregulin 3		C	,,	1,4405	2.1+/-5.4	0,1,2202	72.0	68.0	69.0		1950,1947,1359	-0.2	1.0	10		69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	NRG3	NM_001010848.3,NM_001165972.1,NM_001165973.1	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	650/697,649/696,453/500	84745220	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84745220C>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.2022C>T	10.37:g.84745220C>T						NRG3_ENST00000537893.1_Silent_p.Y300Y|NRG3_ENST00000404547.1_Silent_p.Y674Y|NRG3_ENST00000545131.1_Silent_p.Y300Y|NRG3_ENST00000404576.2_Silent_p.Y454Y|NRG3_ENST00000372141.2_Silent_p.Y650Y|NRG3_ENST00000556918.1_Silent_p.Y480Y	p.Y453Y	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	11	1633	+			674					A4D7U1|Q0PEH2|Q5VYH3	Silent	SNP	ENST00000404547.1	37	c.1359C>T	CCDS31233.1																																																																																				0.488	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		11	56	0	0	0	1	0	11	56				
MAPK11	5600	broad.mit.edu	37	22	50704717	50704717	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr22:50704717G>A	ENST00000330651.6	-	9	800	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	MAPK11_ENST00000449719.2_3'UTR|MAPK11_ENST00000495277.1_5'Flank	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	234	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Regorafenib(DB08896)	TCCATGATGCGCTTCAGCTGG	0.612																																					GBM(9;634 739 50668)	ENST00000330651.6																			0				breast(1)|central_nervous_system(1)|lung(4)	6						c.(700-702)Cgc>Tgc		mitogen-activated protein kinase 11							66.0	55.0	59.0					22																	50704717		2196	4295	6491	SO:0001583	missense	5600				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr22:50704717G>A	Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.700C>T	22.37:g.50704717G>A	ENSP00000333685:p.Arg234Cys					MAPK11_ENST00000449719.2_3'UTR	p.R234C	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	9	800	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	234			Protein kinase.		A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Missense_Mutation	SNP	ENST00000330651.6	37	c.700C>T	CCDS14090.1	.	.	.	.	.	.	.	.	.	.	g	14.26	2.482755	0.44147	.	.	ENSG00000185386	ENST00000330651	T	0.66460	-0.21	4.37	2.0	0.26442	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.51787	0.1695	L	0.50919	1.6	0.80722	D	1	P	0.36959	0.575	B	0.31812	0.136	T	0.52238	-0.8602	10	0.72032	D	0.01	.	4.5461	0.12081	0.1075:0.0:0.4961:0.3963	.	234	Q15759	MK11_HUMAN	C	234	ENSP00000333685:R234C	ENSP00000333685:R234C	R	-	1	0	MAPK11	49046844	0.974000	0.33945	1.000000	0.80357	0.994000	0.84299	0.812000	0.27211	0.802000	0.34089	0.479000	0.44913	CGC		0.612	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316900.1			3	16	0	0	0	1	0	3	16				
ETV5	2119	broad.mit.edu	37	3	185823132	185823132	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:185823132T>A	ENST00000306376.5	-	5	440	c.194A>T	c.(193-195)gAt>gTt	p.D65V	ETV5_ENST00000537818.1_Missense_Mutation_p.D107V|ETV5_ENST00000434744.1_Missense_Mutation_p.D65V|DGKG_ENST00000447054.1_5'Flank	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	65					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CTGTTCATCATCAGGAACTTG	0.328			T	"""TMPRSS2, SCL45A3"""	Prostate																																	ENST00000306376.5				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	"""TMPRSS2, SCL45A3"""		Prostate		0				breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28						c.(193-195)gAt>gTt		ets variant 5							123.0	123.0	123.0					3																	185823132		2203	4300	6503	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185823132T>A	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.194A>T	3.37:g.185823132T>A	ENSP00000306894:p.Asp65Val					ETV5_ENST00000434744.1_Missense_Mutation_p.D65V|ETV5_ENST00000537818.1_Missense_Mutation_p.D107V	p.D65V	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		5	440	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		65					A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.194A>T	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	T	18.22	3.576368	0.65878	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818;ENST00000440773;ENST00000421809;ENST00000413301;ENST00000422039	T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.6	5.6	0.85130	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.556077	0.18429	N	0.141510	T	0.70176	0.3194	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.918	T	0.73694	-0.3902	10	0.87932	D	0	.	13.6058	0.62046	0.0:0.0:0.0:1.0	.	65;107	P41161;B7Z7D7	ETV5_HUMAN;.	V	65;65;107;65;65;65;65	ENSP00000306894:D65V;ENSP00000413755:D65V;ENSP00000441737:D107V;ENSP00000389707:D65V;ENSP00000412171:D65V;ENSP00000405157:D65V;ENSP00000388737:D65V	ENSP00000306894:D65V	D	-	2	0	ETV5	187305826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.048000	0.76606	2.248000	0.74166	0.460000	0.39030	GAT		0.328	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454		21	61	0	0	0	1	0	21	61				
FAM168B	130074	broad.mit.edu	37	2	131812999	131812999	+	Silent	SNP	C	C	T	rs371738478		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:131812999C>T	ENST00000409185.1	-	5	428	c.321G>A	c.(319-321)ccG>ccA	p.P107P	FAM168B_ENST00000389915.3_Silent_p.P107P	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	107						cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|lung(2)	5						CTGCATACAGCGGCTGTGTGT	0.612																																						ENST00000409185.1																			0				endometrium(3)|lung(2)	5						c.(319-321)ccG>ccA		family with sequence similarity 168, member B							136.0	156.0	149.0					2																	131812999		2179	4268	6447	SO:0001819	synonymous_variant	130074							g.chr2:131812999C>T		CCDS42755.1	2q21.1	2008-08-08			ENSG00000152102	ENSG00000152102			27016	protein-coding gene	gene with protein product							Standard	NM_001009993		Approved	KIAA0280L	uc002tsd.3	A1KXE4	OTTHUMG00000153473	ENST00000409185.1:c.321G>A	2.37:g.131812999C>T						FAM168B_ENST00000389915.3_Silent_p.P107P	p.P107P	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN			5	428	-			107					Q2TAZ6|Q6NZ40	Silent	SNP	ENST00000409185.1	37	c.321G>A	CCDS42755.1																																																																																				0.612	FAM168B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331299.2	NM_001009993		13	125	0	0	0	1	0	13	125				
PRRT3	285368	broad.mit.edu	37	3	9991651	9991651	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:9991651G>A	ENST00000412055.1	-	2	278	c.149C>T	c.(148-150)tCt>tTt	p.S50F	PRRT3_ENST00000411976.2_Missense_Mutation_p.S50F|PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	50						integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TGAGCCCACAGAGCCCTTGGG	0.627																																						ENST00000412055.1																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						c.(148-150)tCt>tTt		proline-rich transmembrane protein 3							53.0	57.0	56.0					3																	9991651		1876	4116	5992	SO:0001583	missense	285368					integral to membrane		g.chr3:9991651G>A	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"""Proline-rich transmembrane proteins"""	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.149C>T	3.37:g.9991651G>A	ENSP00000392511:p.Ser50Phe					PRRT3_ENST00000411976.2_Missense_Mutation_p.S50F|PRRT3-AS1_ENST00000431558.1_RNA	p.S50F	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN			2	278	-			50					Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	ENST00000412055.1	37	c.149C>T	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588831	0.28357	.	.	ENSG00000163704	ENST00000412055;ENST00000411976	T;T	0.21191	2.31;2.02	2.97	2.97	0.34412	.	0.194812	0.25680	N	0.029006	T	0.15955	0.0384	N	0.19112	0.55	0.26617	N	0.972737	P;P	0.50528	0.924;0.936	P;P	0.47981	0.563;0.466	T	0.06110	-1.0845	9	.	.	.	-1.4824	9.6647	0.39977	0.0:0.0:1.0:0.0	.	50;50	Q5FWE3-3;Q5FWE3	.;PRRT3_HUMAN	F	50	ENSP00000392511:S50F;ENSP00000404512:S50F	.	S	-	2	0	PRRT3	9966651	0.000000	0.05858	0.137000	0.22149	0.001000	0.01503	0.451000	0.21779	1.969000	0.57287	0.557000	0.71058	TCT		0.627	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		5	64	0	0	0	1	0	5	64				
MKI67	4288	broad.mit.edu	37	10	129906285	129906285	+	Silent	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:129906285G>A	ENST00000368654.3	-	13	4194	c.3819C>T	c.(3817-3819)atC>atT	p.I1273I	MKI67_ENST00000368653.3_Silent_p.I913I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1273	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGCTTTCCTGATACTTCTCT	0.498																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3817-3819)atC>atT		marker of proliferation Ki-67							226.0	219.0	221.0					10																	129906285		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906285G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3819C>T	10.37:g.129906285G>A						MKI67_ENST00000368653.3_Silent_p.I913I	p.I1273I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	4194	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1273			16 X 122 AA approximate repeats.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.3819C>T	CCDS7659.1																																																																																				0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		32	161	0	0	0	1	0	32	161				
SLC5A12	159963	broad.mit.edu	37	11	26734222	26734222	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:26734222C>A	ENST00000396005.3	-	2	680	c.371G>T	c.(370-372)cGc>cTc	p.R124L	SLC5A12_ENST00000280467.6_Missense_Mutation_p.R124L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	124					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GGCAGCATAGCGAACTGGTTT	0.398																																						ENST00000396005.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						c.(370-372)cGc>cTc		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12							314.0	263.0	280.0					11																	26734222		2203	4299	6502	SO:0001583	missense	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26734222C>A	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.371G>T	11.37:g.26734222C>A	ENSP00000379326:p.Arg124Leu					SLC5A12_ENST00000280467.6_Missense_Mutation_p.R124L	p.R124L	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN			2	680	-			124					Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	c.371G>T	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	C	34	5.349860	0.95830	.	.	ENSG00000148942	ENST00000396005;ENST00000280467	D;D	0.88046	-2.33;-2.33	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.95774	0.8625	H	0.96111	3.77	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.70935	0.962;0.971	D	0.97102	0.9798	10	0.87932	D	0	.	18.9255	0.92541	0.0:1.0:0.0:0.0	.	124;124	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	L	124	ENSP00000379326:R124L;ENSP00000280467:R124L	ENSP00000280467:R124L	R	-	2	0	SLC5A12	26690798	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.444000	0.80532	2.522000	0.85027	0.655000	0.94253	CGC		0.398	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		11	242	1	0	5.50884e-06	1	6.21758e-06	11	242				
TRIM42	287015	broad.mit.edu	37	3	140401726	140401726	+	Missense_Mutation	SNP	G	G	A	rs146006015		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:140401726G>A	ENST00000286349.3	+	2	955	c.764G>A	c.(763-765)cGc>cAc	p.R255H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	255						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATCACCTGCCGCCTCAACCTG	0.617																																						ENST00000286349.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(763-765)cGc>cAc		tripartite motif containing 42							97.0	88.0	91.0					3																	140401726		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140401726G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.764G>A	3.37:g.140401726G>A	ENSP00000286349:p.Arg255His						p.R255H	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			2	955	+			255					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.764G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854142	0.71719	.	.	ENSG00000155890	ENST00000286349	T	0.38240	1.15	5.2	3.38	0.38709	.	0.412228	0.23552	N	0.046951	T	0.33352	0.0860	L	0.42245	1.32	0.31673	N	0.644144	D	0.65815	0.995	P	0.47430	0.547	T	0.42548	-0.9445	10	0.51188	T	0.08	-10.7984	8.1166	0.30946	0.1918:0.0:0.8082:0.0	.	255	Q8IWZ5	TRI42_HUMAN	H	255	ENSP00000286349:R255H	ENSP00000286349:R255H	R	+	2	0	TRIM42	141884416	0.939000	0.31865	1.000000	0.80357	0.997000	0.91878	1.628000	0.37060	1.190000	0.43042	0.561000	0.74099	CGC		0.617	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		9	71	0	0	0	1	0	9	71				
PCDHA12	56137	broad.mit.edu	37	5	140256720	140256720	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:140256720G>A	ENST00000398631.2	+	1	1663	c.1663G>A	c.(1663-1665)Gtg>Atg	p.V555M	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	555	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGTGTTCGTGCTGGACGA	0.701																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1663-1665)Gtg>Atg									134.0	140.0	138.0					5																	140256720		2203	4297	6500	SO:0001583	missense	56137							g.chr5:140256720G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1663G>A	5.37:g.140256720G>A	ENSP00000381628:p.Val555Met					PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron	p.V555M	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1663	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1663G>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339692	0.60963	.	.	ENSG00000251664	ENST00000398631	T	0.68181	-0.31	4.92	4.92	0.64577	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.83348	0.5235	M	0.89353	3.025	0.24652	N	0.993516	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	T	0.75572	-0.3271	9	0.72032	D	0.01	.	11.2673	0.49118	0.0855:0.0:0.9145:0.0	.	555;555	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	M	555	ENSP00000381628:V555M	ENSP00000381628:V555M	V	+	1	0	PCDHA12	140236904	0.991000	0.36638	1.000000	0.80357	0.893000	0.52053	2.578000	0.46051	2.271000	0.75665	0.561000	0.74099	GTG		0.701	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		12	177	0	0	0	1	0	12	177				
DNAH2	146754	broad.mit.edu	37	17	7636499	7636499	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:7636499G>A	ENST00000572933.1	+	5	1954	c.494G>A	c.(493-495)gGc>gAc	p.G165D	DNAH2_ENST00000389173.2_Missense_Mutation_p.G165D|DNAH2_ENST00000570791.1_Missense_Mutation_p.G165D|DNAH2_ENST00000082259.3_Missense_Mutation_p.G165D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	165	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACGGTGCGGGGCCCCTATATC	0.552																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(493-495)gGc>gAc		dynein, axonemal, heavy chain 2							94.0	92.0	93.0					17																	7636499		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7636499G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.494G>A	17.37:g.7636499G>A	ENSP00000458355:p.Gly165Asp					DNAH2_ENST00000082259.3_Missense_Mutation_p.G165D|DNAH2_ENST00000389173.2_Missense_Mutation_p.G165D|DNAH2_ENST00000570791.1_Missense_Mutation_p.G165D	p.G165D			Q9P225	DYH2_HUMAN			5	1954	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	165			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.494G>A	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394574	0.62066	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.40756	1.02;1.02	5.56	5.56	0.83823	.	0.715657	0.13332	N	0.395827	T	0.48995	0.1531	N	0.20986	0.625	0.51233	D	0.999917	B;D	0.67145	0.11;0.996	B;D	0.72982	0.03;0.979	T	0.20706	-1.0267	10	0.30854	T	0.27	.	12.413	0.55478	0.0811:0.0:0.9189:0.0	.	165;165	Q9P225;Q9P225-3	DYH2_HUMAN;.	D	165	ENSP00000373825:G165D;ENSP00000082259:G165D	ENSP00000082259:G165D	G	+	2	0	DNAH2	7577224	1.000000	0.71417	0.922000	0.36590	0.549000	0.35272	4.348000	0.59379	2.631000	0.89168	0.655000	0.94253	GGC		0.552	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		23	113	0	0	0	1	0	23	113				
DZIP3	9666	broad.mit.edu	37	3	108373044	108373044	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:108373044C>T	ENST00000361582.3	+	19	2316	c.2086C>T	c.(2086-2088)Cac>Tac	p.H696Y	DZIP3_ENST00000463306.1_Missense_Mutation_p.H696Y	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	696					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AGCAAATCCACACTCAGTCAG	0.378																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(2086-2088)Cac>Tac		DAZ interacting zinc finger protein 3							154.0	136.0	142.0					3																	108373044		2203	4300	6503	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108373044C>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2086C>T	3.37:g.108373044C>T	ENSP00000355028:p.His696Tyr					DZIP3_ENST00000463306.1_Missense_Mutation_p.H696Y	p.H696Y	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			19	2316	+			696					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.2086C>T	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566819	0.28003	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.30714	1.52;1.52	4.81	0.747	0.18371	.	1.249520	0.05584	N	0.573414	T	0.15089	0.0364	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23904	-1.0175	10	0.38643	T	0.18	0.0012	3.1826	0.06589	0.1921:0.4828:0.0:0.3251	.	314;696	D3DN61;Q86Y13	.;DZIP3_HUMAN	Y	696	ENSP00000355028:H696Y;ENSP00000419981:H696Y	ENSP00000355028:H696Y	H	+	1	0	DZIP3	109855734	0.000000	0.05858	0.000000	0.03702	0.613000	0.37349	-0.670000	0.05256	-0.052000	0.13311	0.585000	0.79938	CAC		0.378	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		14	91	0	0	0	1	0	14	91				
CDHR5	53841	broad.mit.edu	37	11	621408	621408	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:621408C>T	ENST00000358353.3	-	7	877	c.555G>A	c.(553-555)ctG>ctA	p.L185L	CDHR5_ENST00000397542.2_Silent_p.L185L|CDHR5_ENST00000349570.7_Silent_p.L185L|CDHR5_ENST00000529337.1_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	185	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GGTCCAGCCTCAGGGCGGGAC	0.657																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(553-555)ctG>ctA		cadherin-related family member 5							44.0	48.0	47.0					11																	621408		2203	4300	6503	SO:0001819	synonymous_variant	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:621408C>T	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.555G>A	11.37:g.621408C>T						CDHR5_ENST00000349570.7_Silent_p.L185L|CDHR5_ENST00000397542.2_Silent_p.L185L	p.L185L			Q9HBB8	CDHR5_HUMAN			7	877	-			185			Cadherin 2.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	ENST00000358353.3	37	c.555G>A	CCDS7707.1																																																																																				0.657	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		10	64	0	0	0	1	0	10	64				
SLC26A7	115111	broad.mit.edu	37	8	92407324	92407324	+	Nonstop_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr8:92407324G>C	ENST00000276609.3	+	19	2209	c.1970G>C	c.(1969-1971)tGa>tCa	p.*657S	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Nonstop_Mutation_p.*657S	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGTGAAGTCTGAGACCCTTTT	0.398																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1969-1971)tGa>tCa		solute carrier family 26 (anion exchanger), member 7							220.0	207.0	211.0					8																	92407324		2203	4300	6503	SO:0001578	stop_lost	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92407324G>C	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1970G>C	8.37:g.92407324G>C	ENSP00000276609:p.*657Serext*15					SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Nonstop_Mutation_p.*657S	p.*657S	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		19	2209	+			0						Nonstop_Mutation	SNP	ENST00000276609.3	37	c.1970G>C	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592388	0.66219	.	.	ENSG00000147606	ENST00000523719;ENST00000276609	.	.	.	6.05	6.05	0.98169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7892	0.91966	0.0:0.0:1.0:0.0	.	.	.	.	S	657	.	.	X	+	2	2	SLC26A7	92476500	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.964000	0.70379	2.866000	0.98385	0.650000	0.86243	TGA		0.398	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			25	209	0	0	0	1	0	25	209				
CENPJ	55835	broad.mit.edu	37	13	25479735	25479735	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr13:25479735C>T	ENST00000381884.4	-	7	2626	c.2441G>A	c.(2440-2442)gGg>gAg	p.G814E	CENPJ_ENST00000545981.1_Missense_Mutation_p.G814E	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	814					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GGATTCATTCCCAAGAACAAC	0.408																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2440-2442)gGg>gAg		centromere protein J							162.0	146.0	151.0					13																	25479735		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25479735C>T	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.2441G>A	13.37:g.25479735C>T	ENSP00000371308:p.Gly814Glu					CENPJ_ENST00000545981.1_Missense_Mutation_p.G814E	p.G814E	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	7	2626	-		Lung SC(185;0.0225)|Breast(139;0.0602)	814					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.2441G>A	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	1.335	-0.595781	0.03771	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.68331	-0.32;-0.32	5.11	1.27	0.21489	.	0.443521	0.21200	N	0.078482	T	0.50820	0.1638	L	0.52364	1.645	0.20821	N	0.999848	B	0.17465	0.022	B	0.14578	0.011	T	0.38824	-0.9643	10	0.02654	T	1	.	8.7424	0.34564	0.0:0.575:0.0:0.425	.	814	Q9HC77	CENPJ_HUMAN	E	814	ENSP00000371308:G814E;ENSP00000441090:G814E	ENSP00000371308:G814E	G	-	2	0	CENPJ	24377735	0.627000	0.27129	0.057000	0.19452	0.005000	0.04900	0.731000	0.26058	-0.012000	0.14223	-0.253000	0.11424	GGG		0.408	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		9	127	0	0	0	1	0	9	127				
ADCYAP1R1	117	broad.mit.edu	37	7	31146136	31146136	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:31146136G>C	ENST00000304166.4	+	16	1534	c.1245G>C	c.(1243-1245)tgG>tgC	p.W415C	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.W471C|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.W443C|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.W394C	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	415					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						AGCGAAAATGGCGAAGCTGGA	0.607																																					Ovarian(44;225 1186 2158 11092)	ENST00000304166.4																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(1243-1245)tgG>tgC		adenylate cyclase activating polypeptide 1 (pituitary) receptor type I							106.0	97.0	100.0					7																	31146136		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31146136G>C		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.1245G>C	7.37:g.31146136G>C	ENSP00000306620:p.Trp415Cys					ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.W471C|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.W394C|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.W443C	p.W415C	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN			16	1534	+			415					A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.1245G>C	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951352	0.73787	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.87497	0.6192	M	0.93106	3.38	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.76071	0.968;0.986;0.987;0.968;0.968	D	0.90500	0.4473	10	0.87932	D	0	.	16.137	0.81492	0.0:0.0:1.0:0.0	.	442;443;471;394;415	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	C	415;394;443;471	ENSP00000306620:W415C;ENSP00000387335:W394C;ENSP00000379514:W443C;ENSP00000386395:W471C	ENSP00000306620:W415C	W	+	3	0	ADCYAP1R1	31112661	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.813000	0.99286	2.495000	0.84180	0.655000	0.94253	TGG		0.607	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		8	73	0	0	0	1	0	8	73				
ABCA9	10350	broad.mit.edu	37	17	66987079	66987079	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr17:66987079C>G	ENST00000340001.4	-	29	3947	c.3736G>C	c.(3736-3738)Gct>Cct	p.A1246P	ABCA9_ENST00000370732.2_Missense_Mutation_p.A1246P|ABCA9_ENST00000453985.2_Missense_Mutation_p.A1208P|ABCA9_ENST00000482072.1_5'Flank	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1246					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A1246T(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGAAAAATAGCGTTGCTTCTT	0.368																																						ENST00000340001.4																			1	Substitution - Missense(1)	p.A1246T(1)	large_intestine(1)	NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(3736-3738)Gct>Cct		ATP-binding cassette, sub-family A (ABC1), member 9							151.0	131.0	138.0					17																	66987079		2202	4300	6502	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66987079C>G	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3736G>C	17.37:g.66987079C>G	ENSP00000342216:p.Ala1246Pro					ABCA9_ENST00000453985.2_Missense_Mutation_p.A1208P|ABCA9_ENST00000370732.2_Missense_Mutation_p.A1246P	p.A1246P	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			29	3947	-	Breast(10;1.47e-12)		1246					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.3736G>C	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	5.377	0.254841	0.10185	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732	D;D	0.87412	-2.15;-2.25	5.33	-3.94	0.04130	.	2.609730	0.01272	N	0.009466	T	0.77864	0.4194	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.13407	0.009;0.004	T	0.63202	-0.6690	10	0.32370	T	0.25	.	7.5994	0.28067	0.0:0.25:0.1333:0.6167	.	1246;1246	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	P	1246;1191;1246	ENSP00000342216:A1246P;ENSP00000359767:A1246P	ENSP00000342216:A1246P	A	-	1	0	ABCA9	64498674	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.848000	0.04326	-0.739000	0.04809	0.609000	0.83330	GCT		0.368	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		6	44	0	0	0	1	0	6	44				
ZNF600	162966	broad.mit.edu	37	19	53269576	53269576	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:53269576G>C	ENST00000338230.3	-	3	1700	c.1433C>G	c.(1432-1434)gCt>gGt	p.A478G		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	478					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)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ACACGCAAAAGCCTTGTCACA	0.408																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	ENST00000338230.3																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(1432-1434)gCt>gGt		zinc finger protein 600							141.0	141.0	141.0					19																	53269576		2203	4300	6503	SO:0001583	missense	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53269576G>C	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1433C>G	19.37:g.53269576G>C	ENSP00000344791:p.Ala478Gly						p.A478G	NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	1700	-			478					Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	c.1433C>G	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	11.99	1.802968	0.31869	.	.	ENSG00000189190	ENST00000338230	T	0.19669	2.13	1.5	-3.0	0.05480	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28699	0.0711	L	0.37561	1.115	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.17410	-1.0370	9	0.54805	T	0.06	.	6.1185	0.20139	0.0:0.5496:0.2637:0.1867	.	478	Q6ZNG1	ZN600_HUMAN	G	478	ENSP00000344791:A478G	ENSP00000344791:A478G	A	-	2	0	ZNF600	57961388	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-3.558000	0.00431	-0.725000	0.04901	0.184000	0.17185	GCT		0.408	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		16	196	0	0	0	1	0	16	196				
ADH7	131	broad.mit.edu	37	4	100341898	100341898	+	Nonsense_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:100341898G>C	ENST00000209665.4	-	6	893	c.653C>G	c.(652-654)tCa>tGa	p.S218*	ADH7_ENST00000476959.1_Nonsense_Mutation_p.S226*|ADH7_ENST00000437033.2_Nonsense_Mutation_p.S206*|ADH7_ENST00000482593.1_Nonsense_Mutation_p.S149*	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	218					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		CATGATGACTGACAGGCCAAC	0.493																																						ENST00000437033.2																			0				breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19						c.(616-618)tCa>tGa		alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	NADH(DB00157)						110.0	95.0	100.0					4																	100341898		2203	4300	6503	SO:0001587	stop_gained	131				ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	g.chr4:100341898G>C	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.653C>G	4.37:g.100341898G>C	ENSP00000209665:p.Ser218*					ADH7_ENST00000209665.4_Nonsense_Mutation_p.S218*|ADH7_ENST00000482593.1_Nonsense_Mutation_p.S149*|ADH7_ENST00000476959.1_Nonsense_Mutation_p.S226*	p.S206*			P40394	ADH7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	6	1120	-			218					A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Nonsense_Mutation	SNP	ENST00000209665.4	37	c.617C>G	CCDS34034.1	.	.	.	.	.	.	.	.	.	.	G	37	6.026454	0.97216	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959	.	.	.	3.8	1.01	0.19927	.	0.135128	0.50627	D	0.000114	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.0155	6.7396	0.23428	0.1679:0.1452:0.6869:0.0	.	.	.	.	X	206;218;149;226	.	ENSP00000209665:S218X	S	-	2	0	ADH7	100560921	0.998000	0.40836	0.001000	0.08648	0.973000	0.67179	3.229000	0.51278	-0.025000	0.13918	0.563000	0.77884	TCA		0.493	ADH7-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000673		7	77	0	0	0	1	0	7	77				
DIP2C	22982	broad.mit.edu	37	10	390850	390850	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr10:390850G>T	ENST00000280886.6	-	28	3439	c.3352C>A	c.(3352-3354)Cca>Aca	p.P1118T		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1118						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGCTTCTTTGGCAAATCATCT	0.527																																						ENST00000280886.6																			0				breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(3352-3354)Cca>Aca		DIP2 disco-interacting protein 2 homolog C (Drosophila)							96.0	83.0	88.0					10																	390850		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:390850G>T	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3352C>A	10.37:g.390850G>T	ENSP00000280886:p.Pro1118Thr						p.P1118T	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	28	3439	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1118					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.3352C>A	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141138	0.77775	.	.	ENSG00000151240	ENST00000280886;ENST00000535541	T	0.10192	2.9	5.81	4.9	0.64082	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.27313	0.0670	M	0.71036	2.16	0.80722	D	1	P	0.46952	0.887	P	0.53722	0.733	T	0.02301	-1.1180	10	0.62326	D	0.03	-15.479	16.9618	0.86274	0.0:0.1278:0.8722:0.0	.	1118	Q9Y2E4	DIP2C_HUMAN	T	1118;43	ENSP00000280886:P1118T	ENSP00000280886:P1118T	P	-	1	0	DIP2C	380850	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.813000	0.99286	1.456000	0.47831	0.655000	0.94253	CCA		0.527	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		3	7	1	0	0.004672	1	0.0049273	3	7				
TLR4	7099	broad.mit.edu	37	9	120475703	120475703	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr9:120475703A>C	ENST00000355622.6	+	3	1398	c.1297A>C	c.(1297-1299)Aat>Cat	p.N433H	TLR4_ENST00000394487.4_Missense_Mutation_p.N393H|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	433					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CCAGCATTCCAATTTGAAACA	0.373																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(1297-1299)Aat>Cat		toll-like receptor 4							72.0	73.0	72.0					9																	120475703		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475703A>C	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1297A>C	9.37:g.120475703A>C	ENSP00000363089:p.Asn433His					TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.N393H	p.N433H	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	1398	+			433					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.1297A>C	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	A	14.48	2.546857	0.45383	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.01051	5.4;5.4	5.92	-1.48	0.08745	.	1.149070	0.06340	N	0.707800	T	0.01800	0.0057	N	0.20357	0.565	0.09310	N	1	D	0.64830	0.994	D	0.64410	0.925	T	0.48570	-0.9024	10	0.10111	T	0.7	.	5.2603	0.15569	0.443:0.3901:0.0612:0.1057	.	433	O00206	TLR4_HUMAN	H	393;433	ENSP00000377997:N393H;ENSP00000363089:N433H	ENSP00000363089:N433H	N	+	1	0	TLR4	119515524	0.153000	0.22777	0.058000	0.19502	0.656000	0.38851	3.051000	0.49885	-0.143000	0.11334	-0.321000	0.08615	AAT		0.373	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		13	72	0	0	0	1	0	13	72				
YWHAQ	10971	broad.mit.edu	37	2	9725447	9725447	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:9725447C>A	ENST00000381844.4	-	5	869	c.706G>T	c.(706-708)Gaa>Taa	p.E236*	YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Nonsense_Mutation_p.E236*			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta	236					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		GCATCACATTCTTCTCCTGCA	0.368																																						ENST00000381844.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(706-708)Gaa>Taa		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide							117.0	110.0	112.0					2																	9725447		2203	4300	6503	SO:0001587	stop_gained	10971				negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding	g.chr2:9725447C>A	AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"""protein tau"""	609009	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"""			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.706G>T	2.37:g.9725447C>A	ENSP00000371267:p.Glu236*					YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Nonsense_Mutation_p.E236*	p.E236*			P27348	1433T_HUMAN		Epithelial(75;0.241)	5	869	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		236					D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Nonsense_Mutation	SNP	ENST00000381844.4	37	c.706G>T	CCDS1666.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054788	0.93793	.	.	ENSG00000134308	ENST00000238081;ENST00000381844;ENST00000539979	.	.	.	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	19.2149	0.93772	0.0:1.0:0.0:0.0	.	.	.	.	X	236;236;201	.	ENSP00000238081:E236X	E	-	1	0	YWHAQ	9642898	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.213000	0.77950	2.630000	0.89119	0.461000	0.40582	GAA		0.368	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039014.4	NM_006826		5	64	1	0	0.014758	1	0.0152315	5	64				
RPLP0	6175	broad.mit.edu	37	12	120636428	120636428	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:120636428C>T	ENST00000551150.1	-	5	895	c.580G>A	c.(580-582)Gac>Aac	p.D194N	RPLP0_ENST00000313104.5_Intron|RPLP0_ENST00000392514.4_Missense_Mutation_p.D194N|RPLP0_ENST00000550296.1_5'Flank|PXN-AS1_ENST00000542265.1_RNA|RPLP0_ENST00000546989.1_Missense_Mutation_p.D158N|PXN-AS1_ENST00000542314.1_RNA|PXN-AS1_ENST00000538804.1_RNA|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000228306.4_Missense_Mutation_p.D194N|RPLP0_ENST00000552292.1_5'Flank			P05388	RLA0_HUMAN	ribosomal protein, large, P0	194					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGCCATTGTCGAACACCTGC	0.527																																						ENST00000551150.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15						c.(580-582)Gac>Aac		ribosomal protein, large, P0							87.0	79.0	82.0					12																	120636428		2203	4300	6503	SO:0001583	missense	6175				endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	g.chr12:120636428C>T	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.580G>A	12.37:g.120636428C>T	ENSP00000449328:p.Asp194Asn					RPLP0_ENST00000313104.5_Intron|RPLP0_ENST00000546989.1_Missense_Mutation_p.D158N|RPLP0_ENST00000392514.4_Missense_Mutation_p.D194N|RPLP0_ENST00000228306.4_Missense_Mutation_p.D194N	p.D194N			P05388	RLA0_HUMAN			5	895	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		194					Q3B7A4|Q9BVK4	Missense_Mutation	SNP	ENST00000551150.1	37	c.580G>A	CCDS9193.1	.	.	.	.	.	.	.	.	.	.	C	32	5.121872	0.94429	.	.	ENSG00000089157	ENST00000392514;ENST00000551150;ENST00000546989;ENST00000228306;ENST00000546990;ENST00000547211;ENST00000550856	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	U	0.000000	T	0.68063	0.2960	M	0.80332	2.49	0.80722	D	1	P	0.47545	0.897	B	0.40782	0.34	T	0.75952	-0.3136	9	0.87932	D	0	.	19.4178	0.94709	0.0:1.0:0.0:0.0	.	194	P05388	RLA0_HUMAN	N	194;194;158;194;145;174;194	.	ENSP00000339027:D194N	D	-	1	0	RPLP0	119120811	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.732000	0.84908	2.601000	0.87937	0.655000	0.94253	GAC		0.527	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3	NM_053275		9	87	0	0	0	1	0	9	87				
ATP13A5	344905	broad.mit.edu	37	3	193082032	193082032	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr3:193082032G>A	ENST00000342358.4	-	2	218	c.101C>T	c.(100-102)gCc>gTc	p.A34V		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	34						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AAGGCAGAAGGCTTTCCGTAC	0.483																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(100-102)gCc>gTc		ATPase type 13A5							161.0	164.0	163.0					3																	193082032		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193082032G>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.101C>T	3.37:g.193082032G>A	ENSP00000341942:p.Ala34Val						p.A34V	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	2	218	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		34					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.101C>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	G	7.895	0.733250	0.15574	.	.	ENSG00000187527	ENST00000342358;ENST00000446087	T;T	0.21031	2.03;2.03	5.5	0.605	0.17553	.	0.202289	0.34750	N	0.003708	T	0.13927	0.0337	L	0.37630	1.12	0.09310	N	1	B	0.12013	0.005	B	0.23574	0.047	T	0.36237	-0.9756	10	0.11485	T	0.65	-0.89	9.8585	0.41101	0.3824:0.0:0.6176:0.0	.	34	Q4VNC0	AT135_HUMAN	V	34;56	ENSP00000341942:A34V;ENSP00000389416:A56V	ENSP00000341942:A34V	A	-	2	0	ATP13A5	194564726	0.001000	0.12720	0.007000	0.13788	0.010000	0.07245	0.298000	0.19120	0.115000	0.18071	-0.142000	0.14014	GCC		0.483	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		12	252	0	0	0	1	0	12	252				
GJA8	2703	broad.mit.edu	37	1	147380410	147380410	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr1:147380410G>A	ENST00000369235.1	+	1	328	c.328G>A	c.(328-330)Gag>Aag	p.E110K	GJA8_ENST00000240986.4_Missense_Mutation_p.E110K			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	110				EA -> D (in Ref. 1; AAA77062). {ECO:0000305}.	cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CAAAAGCCGCGAGGCGGAGGA	0.652																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(328-330)Gag>Aag		gap junction protein, alpha 8, 50kDa							56.0	58.0	57.0					1																	147380410		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380410G>A	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.328G>A	1.37:g.147380410G>A	ENSP00000358238:p.Glu110Lys					GJA8_ENST00000369235.1_Missense_Mutation_p.E110K	p.E110K	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	381	+	all_hematologic(923;0.0276)		110	EA -> D (in Ref. 1; AAA77062).				A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.328G>A	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	g	17.56	3.420418	0.62622	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.97772	-4.53;-4.53	4.88	3.97	0.46021	.	1.556140	0.03738	N	0.254482	D	0.97835	0.9289	M	0.67397	2.05	0.58432	D	0.999995	D	0.76494	0.999	D	0.65874	0.939	D	0.92773	0.6234	10	0.29301	T	0.29	.	13.0767	0.59091	0.0782:0.0:0.9218:0.0	.	110	P48165	CXA8_HUMAN	K	110	ENSP00000240986:E110K;ENSP00000358238:E110K	ENSP00000240986:E110K	E	+	1	0	GJA8	145847034	1.000000	0.71417	0.908000	0.35775	0.513000	0.34164	7.753000	0.85153	1.039000	0.40074	0.491000	0.48974	GAG		0.652	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		16	65	0	0	0	1	0	16	65				
OR7D4	125958	broad.mit.edu	37	19	9324827	9324827	+	Silent	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:9324827G>A	ENST00000308682.2	-	1	715	c.687C>T	c.(685-687)tcC>tcT	p.S229S		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CCTTGGTGGAGGACATTCCCA	0.502																																						ENST00000308682.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(685-687)tcC>tcT		olfactory receptor, family 7, subfamily D, member 4							77.0	69.0	72.0					19																	9324827		2203	4300	6503	SO:0001819	synonymous_variant	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9324827G>A		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.687C>T	19.37:g.9324827G>A							p.S229S	NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN			1	715	-			229					A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Silent	SNP	ENST00000308682.2	37	c.687C>T	CCDS32901.1																																																																																				0.502	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			4	69	0	0	0	1	0	4	69				
SLC26A7	115111	broad.mit.edu	37	8	92406215	92406215	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr8:92406215C>G	ENST00000276609.3	+	18	2122	c.1883C>G	c.(1882-1884)cCa>cGa	p.P628R	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.P628R|SLC26A7_ENST00000309536.2_Missense_Mutation_p.P628R	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCAGAGAAACCAATTTTTTTT	0.338																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1882-1884)cCa>cGa		solute carrier family 26 (anion exchanger), member 7							83.0	85.0	84.0					8																	92406215		2203	4300	6503	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92406215C>G	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1883C>G	8.37:g.92406215C>G	ENSP00000276609:p.Pro628Arg					SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.P628R|SLC26A7_ENST00000309536.2_Missense_Mutation_p.P628R	p.P628R	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		18	2122	+			628			STAS.			Missense_Mutation	SNP	ENST00000276609.3	37	c.1883C>G	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780204	0.49891	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.87491	-2.26;-2.26;-2.26	5.48	4.52	0.55395	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.105666	0.42053	D	0.000765	D	0.87079	0.6088	M	0.65975	2.015	0.35714	D	0.816604	P;P	0.36183	0.542;0.454	B;B	0.41860	0.252;0.368	D	0.88366	0.2991	10	0.28530	T	0.3	.	14.3449	0.66654	0.179:0.821:0.0:0.0	.	628;628	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	R	628	ENSP00000428849:P628R;ENSP00000276609:P628R;ENSP00000309504:P628R	ENSP00000276609:P628R	P	+	2	0	SLC26A7	92475391	0.965000	0.33210	1.000000	0.80357	0.997000	0.91878	1.585000	0.36600	2.552000	0.86080	0.557000	0.71058	CCA		0.338	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			6	57	0	0	0	1	0	6	57				
ACTRT1	139741	broad.mit.edu	37	X	127185370	127185370	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chrX:127185370G>C	ENST00000371124.3	-	1	1012	c.816C>G	c.(814-816)agC>agG	p.S272R		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	272						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AGAGTCCTGGGCTGTGGATGC	0.512																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(814-816)agC>agG		actin-related protein T1							107.0	103.0	104.0					X																	127185370		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185370G>C	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.816C>G	X.37:g.127185370G>C	ENSP00000360165:p.Ser272Arg						p.S272R	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	1012	-			272					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.816C>G	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	G	1.223	-0.626405	0.03610	.	.	ENSG00000123165	ENST00000371124	D	0.94793	-3.52	3.45	-1.63	0.08345	.	1.118960	0.06708	N	0.772693	D	0.93099	0.7803	M	0.62723	1.935	0.09310	N	1	B	0.33318	0.408	B	0.39738	0.308	D	0.85517	0.1201	10	0.87932	D	0	.	7.474	0.27365	0.7171:0.0:0.2829:0.0	.	272	Q8TDG2	ACTT1_HUMAN	R	272	ENSP00000360165:S272R	ENSP00000360165:S272R	S	-	3	2	ACTRT1	127013051	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.358000	0.07641	-0.456000	0.07043	-0.380000	0.06706	AGC		0.512	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		12	104	0	0	0	1	0	12	104				
CPS1	1373	broad.mit.edu	37	2	211471660	211471660	+	Silent	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr2:211471660C>T	ENST00000233072.5	+	18	2383	c.2187C>T	c.(2185-2187)gcC>gcT	p.A729A	CPS1_ENST00000430249.2_Silent_p.A735A|CPS1_ENST00000451903.2_Silent_p.A278A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	729	ATP-grasp 1.			A -> T (in Ref. 1; BAA14328). {ECO:0000305}.	anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CCTCAAAAGCCACTGGGTAAG	0.418																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(2185-2187)gcC>gcT		carbamoyl-phosphate synthase 1, mitochondrial							59.0	54.0	56.0					2																	211471660		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211471660C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.2187C>T	2.37:g.211471660C>T						CPS1_ENST00000430249.2_Silent_p.A735A|CPS1_ENST00000451903.2_Silent_p.A278A	p.A729A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	18	2383	+			729	A -> T (in Ref. 1; BAA14328).		ATP-grasp 1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.2187C>T	CCDS2393.1																																																																																				0.418	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			4	51	0	0	0	1	0	4	51				
PCDHB3	56132	broad.mit.edu	37	5	140481867	140481867	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:140481867C>T	ENST00000231130.2	+	1	1634	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	545	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCAGCGAGGCGCTGGTGCGC	0.697																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1633-1635)gCg>gTg									34.0	37.0	36.0					5																	140481867		2200	4293	6493	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481867C>T	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1634C>T	5.37:g.140481867C>T	ENSP00000231130:p.Ala545Val						p.A545V	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1634	+			545			Cadherin 5.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1634C>T	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758240	0.31137	.	.	ENSG00000113205	ENST00000231130	T	0.01787	4.64	4.14	4.14	0.48551	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.01695	0.0054	N	0.17345	0.48	0.40489	D	0.980521	P	0.49307	0.922	B	0.42112	0.376	T	0.74578	-0.3619	9	0.15952	T	0.53	.	16.4507	0.83990	0.0:1.0:0.0:0.0	.	545	Q9Y5E6	PCDB3_HUMAN	V	545	ENSP00000231130:A545V	ENSP00000231130:A545V	A	+	2	0	PCDHB3	140462051	0.629000	0.27146	0.996000	0.52242	0.125000	0.20455	1.114000	0.31196	2.029000	0.59856	0.650000	0.86243	GCG		0.697	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		14	105	0	0	0	1	0	14	105				
SMAP1	60682	broad.mit.edu	37	6	71501407	71501407	+	Missense_Mutation	SNP	G	G	C	rs373507240		TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr6:71501407G>C	ENST00000370455.3	+	5	678	c.430G>C	c.(430-432)Gct>Cct	p.A144P	SMAP1_ENST00000370452.3_Intron|SMAP1_ENST00000316999.5_Intron	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	144					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						CTCCTCTGATGCTCCTCTTCA	0.403																																						ENST00000370455.3																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(430-432)Gct>Cct		small ArfGAP 1							177.0	164.0	168.0					6																	71501407		1906	4116	6022	SO:0001583	missense	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71501407G>C	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.430G>C	6.37:g.71501407G>C	ENSP00000359484:p.Ala144Pro					SMAP1_ENST00000316999.5_Intron|SMAP1_ENST00000370452.3_Intron	p.A144P	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN			5	678	+			144					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Missense_Mutation	SNP	ENST00000370455.3	37	c.430G>C	CCDS43478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.39|12.39	1.922704|1.922704	0.33908|0.33908	.|.	.|.	ENSG00000112305|ENSG00000112305	ENST00000370455;ENST00000370442;ENST00000445046|ENST00000439432	T|.	0.22743|.	1.94|.	5.55|5.55	4.66|4.66	0.58398|0.58398	.|.	0.721015|.	0.13200|.	N|.	0.406047|.	T|T	0.18841|0.18841	0.0452|0.0452	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|.	0.13145|.	0.001;0.007|.	B;B|.	0.10450|.	0.003;0.005|.	T|T	0.10177|0.10177	-1.0641|-1.0641	10|5	0.44086|.	T|.	0.13|.	-8.2473|-8.2473	10.5956|10.5956	0.45336|0.45336	0.0699:0.2502:0.6798:0.0|0.0699:0.2502:0.6798:0.0	.|.	144;144|.	A8K333;Q8IYB5|.	.;SMAP1_HUMAN|.	P|S	144;56;41|18	ENSP00000359484:A144P|.	ENSP00000359471:A56P|.	A|C	+|+	1|2	0|0	SMAP1|SMAP1	71558128|71558128	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	2.534000|2.534000	0.45676|0.45676	1.297000|1.297000	0.44761|0.44761	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.403	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		17	109	0	0	0	1	0	17	109				
OR5L1	219437	broad.mit.edu	37	11	55579540	55579540	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:55579540T>A	ENST00000333973.2	+	1	687	c.598T>A	c.(598-600)Ttc>Atc	p.F200I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GACACTGCTGTTCCTGGTGGC	0.458																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(598-600)Ttc>Atc		olfactory receptor, family 5, subfamily L, member 1							247.0	207.0	221.0					11																	55579540		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579540T>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.598T>A	11.37:g.55579540T>A	ENSP00000335529:p.Phe200Ile						p.F200I	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	687	+		all_epithelial(135;0.208)	200					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.598T>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	t	15.03	2.713584	0.48517	.	.	ENSG00000186117	ENST00000333973	T	0.00091	8.74	4.12	0.161	0.14977	GPCR, rhodopsin-like superfamily (1);	0.702791	0.12978	N	0.423553	T	0.00144	0.0004	L	0.33792	1.035	0.09310	N	1	P	0.38535	0.635	P	0.46389	0.515	T	0.26018	-1.0115	10	0.56958	D	0.05	-16.3048	1.1561	0.01796	0.1495:0.1792:0.1547:0.5167	.	200	Q8NGL2	OR5L1_HUMAN	I	200	ENSP00000335529:F200I	ENSP00000335529:F200I	F	+	1	0	OR5L1	55336116	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.091000	0.11146	-0.260000	0.09418	0.352000	0.21897	TTC		0.458	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		24	193	0	0	0	1	0	24	193				
ST3GAL1	6482	broad.mit.edu	37	8	134472060	134472060	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr8:134472060C>T	ENST00000319914.5	-	9	1997	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	ST3GAL1_ENST00000522652.1_Missense_Mutation_p.V324M|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.V324M|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.V324M			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	324					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GTGGCCGTCACGTTAGACTCA	0.562																																						ENST00000319914.5																			0				endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17						c.(970-972)Gtg>Atg		ST3 beta-galactoside alpha-2,3-sialyltransferase 1							178.0	144.0	155.0					8																	134472060		2203	4300	6503	SO:0001583	missense	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134472060C>T	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.970G>A	8.37:g.134472060C>T	ENSP00000318445:p.Val324Met					ST3GAL1_ENST00000521180.1_Missense_Mutation_p.V324M|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.V324M|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.V324M	p.V324M			Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		9	1997	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		324					O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	c.970G>A	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.702009	0.68501	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	4.98	3.12	0.35913	.	0.241217	0.41294	D	0.000908	T	0.27027	0.0662	L	0.43598	1.365	0.33186	D	0.55021	D	0.57257	0.979	P	0.45167	0.472	T	0.45011	-0.9290	10	0.72032	D	0.01	-13.9388	8.076	0.30716	0.0:0.6829:0.0:0.3171	.	324	Q11201	SIA4A_HUMAN	M	324	ENSP00000318445:V324M;ENSP00000414073:V324M;ENSP00000428540:V324M;ENSP00000430515:V324M	ENSP00000318445:V324M	V	-	1	0	ST3GAL1	134541242	0.306000	0.24490	0.995000	0.50966	0.940000	0.58332	0.752000	0.26362	1.201000	0.43203	0.555000	0.69702	GTG		0.562	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		18	196	0	0	0	1	0	18	196				
CLIP2	7461	broad.mit.edu	37	7	73790923	73790923	+	Missense_Mutation	SNP	G	G	T	rs557831596	byFrequency	TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:73790923G>T	ENST00000395060.1	+	9	2192	c.2192G>T	c.(2191-2193)cGt>cTt	p.R731L	CLIP2_ENST00000361545.5_Missense_Mutation_p.R696L|CLIP2_ENST00000223398.6_Missense_Mutation_p.R731L			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	731						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)		p.R696H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCCGAGCTGCGTGTGCACGAG	0.667																																						ENST00000223398.6																			1	Substitution - Missense(1)	p.R696H(1)	breast(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(2191-2193)cGt>cTt		CAP-GLY domain containing linker protein 2							26.0	34.0	32.0					7																	73790923		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73790923G>T	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2192G>T	7.37:g.73790923G>T	ENSP00000378500:p.Arg731Leu					CLIP2_ENST00000395060.1_Missense_Mutation_p.R731L|CLIP2_ENST00000361545.5_Missense_Mutation_p.R696L	p.R731L	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			10	2519	+			731					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.2192G>T	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057315	0.76074	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.65178	-0.14;-0.09;-0.14	4.9	4.9	0.64082	.	0.055885	0.64402	D	0.000001	T	0.70422	0.3222	L	0.34521	1.04	0.48975	D	0.999731	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.978;0.998;0.995	T	0.70680	-0.4805	10	0.41790	T	0.15	-28.8892	16.6849	0.85302	0.0:0.0:1.0:0.0	.	696;696;731	A7E2F7;Q9UDT6-2;Q9UDT6	.;.;CLIP2_HUMAN	L	731;731;696;731	ENSP00000223398:R731L;ENSP00000355151:R696L;ENSP00000378500:R731L	ENSP00000223398:R731L	R	+	2	0	CLIP2	73428859	1.000000	0.71417	0.965000	0.40720	0.953000	0.61014	7.363000	0.79516	2.276000	0.75962	0.449000	0.29647	CGT		0.667	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		7	18	1	0	0.0293803	1	0.0300021	7	18				
TNIP1	10318	broad.mit.edu	37	5	150422486	150422486	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr5:150422486G>A	ENST00000389378.2	-	10	1561	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	TNIP1_ENST00000522226.1_Missense_Mutation_p.R325W|TNIP1_ENST00000518977.1_Missense_Mutation_p.R325W|TNIP1_ENST00000523338.1_Missense_Mutation_p.R325W|TNIP1_ENST00000524280.1_Missense_Mutation_p.R325W|TNIP1_ENST00000520931.1_Missense_Mutation_p.R272W|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000521591.1_Missense_Mutation_p.R325W|TNIP1_ENST00000315050.7_Missense_Mutation_p.R325W|TNIP1_ENST00000523200.1_Missense_Mutation_p.R325W	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	325	Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCATGGACCGGAAATGCTGG	0.552																																						ENST00000389378.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(973-975)Cgg>Tgg		TNFAIP3 interacting protein 1							283.0	249.0	260.0					5																	150422486		2203	4300	6503	SO:0001583	missense	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150422486G>A	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.973C>T	5.37:g.150422486G>A	ENSP00000374029:p.Arg325Trp					TNIP1_ENST00000315050.7_Missense_Mutation_p.R325W|TNIP1_ENST00000518977.1_Missense_Mutation_p.R325W|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000524280.1_Missense_Mutation_p.R325W|TNIP1_ENST00000523338.1_Missense_Mutation_p.R325W|TNIP1_ENST00000522226.1_Missense_Mutation_p.R325W|TNIP1_ENST00000521591.1_Missense_Mutation_p.R325W|TNIP1_ENST00000523200.1_Missense_Mutation_p.R325W|TNIP1_ENST00000520931.1_Missense_Mutation_p.R272W	p.R325W	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	1561	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	325			Interacts with Nef.		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	c.973C>T	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337020	0.81801	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840	T;T;T;T;T;T;T;T;T	0.61859	2.23;2.26;2.26;2.26;2.26;2.26;2.26;0.07;2.3	5.47	5.47	0.80525	.	0.106709	0.64402	D	0.000004	T	0.77572	0.4150	M	0.83223	2.63	0.44780	D	0.997788	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	0.999;1.0;0.999;1.0;1.0;0.998;0.999	T	0.80797	-0.1222	10	0.87932	D	0	-33.1055	14.6438	0.68745	0.0:0.0:0.8538:0.1461	.	325;279;279;325;325;325;325	B7Z8K2;A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;.;TNIP1_HUMAN	W	272;325;325;325;282;282;287;325;325;325;325;325;282	ENSP00000429891:R272W;ENSP00000374029:R325W;ENSP00000317891:R325W;ENSP00000428243:R325W;ENSP00000428187:R325W;ENSP00000430760:R325W;ENSP00000430971:R325W;ENSP00000429912:R325W;ENSP00000431105:R325W	ENSP00000317891:R325W	R	-	1	2	TNIP1	150402679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.685000	0.54678	2.561000	0.86390	0.650000	0.86243	CGG		0.552	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		62	284	0	0	0	1	0	62	284				
MSX1	4487	broad.mit.edu	37	4	4864658	4864658	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:4864658delG	ENST00000382723.4	+	2	934	c.700delG	c.(700-702)gagfs	p.E234fs	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	234					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|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 negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ACAAGAGGCAGAGCTGGAGAA	0.657																																						ENST00000382723.4																			0				endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(700-702)agfs		msh homeobox 1							33.0	28.0	30.0					4																	4864658		2199	4297	6496	SO:0001589	frameshift_variant	4487				apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity	g.chr4:4864658delG	M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.700delG	4.37:g.4864658delG	ENSP00000372170:p.Glu234fs					MSX1_ENST00000468421.1_3'UTR	p.E234fs	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	2	934	+			228					A0SZU5|A8K3M1|Q96NY4	Frame_Shift_Del	DEL	ENST00000382723.4	37	c.700delG	CCDS3378.2																																																																																				0.657	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206700.3			8	58						8	58	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187542091	187542092	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr4:187542091_187542092insA	ENST00000441802.2	-	10	5857_5858	c.5648_5649insT	c.(5647-5649)ttafs	p.L1883fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1883	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGCTTCATATAATGGCTTGGC	0.396										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(5647-5649)ttafs		FAT atypical cadherin 1																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187542091_187542092insA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.5649dupT	4.37:g.187542093_187542093dupA	ENSP00000406229:p.Leu1883fs	HNSCC(5;0.00058)					p.L1883fs	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	5857_5858	-			1883			Cadherin 17.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.5648_5649insT	CCDS47177.1																																																																																				0.396	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		7	60						7	60	---	---	---	---
STAG3L2	442582	broad.mit.edu	37	7	74300804	74300804	+	RNA	DEL	A	A	-			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458																																						ENST00000423186.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5																																														442582					nucleus	binding	g.chr7:74300804delA			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74300804delA										P0CL84	ST3L2_HUMAN			0	499	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000423186.1	37																																																																																						0.458	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		2	4						2	4	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100384030	100384033	+	RNA	DEL	TTGT	TTGT	-	rs372773235|rs146191724	byFrequency	TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr7:100384030_100384033delTTGT	ENST00000348028.3	+	0	7143				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ttttcttttcttgtttgtttgttt	0.505														1390	0.277556	0.3434	0.2406	5008	,	,		19485	0.0774		0.4602	False		,,,				2504	0.2331					ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100384030_100384033delTTGT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100384038_100384041delTTGT						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	7124	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.505	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		4	2						4	2	---	---	---	---
CYB5R2	51700	broad.mit.edu	37	11	7690521	7690522	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr11:7690521_7690522insT	ENST00000533558.1	-	5	858_859	c.302_303insA	c.(301-303)aagfs	p.K101fs	CYB5R2_ENST00000524790.1_Frame_Shift_Ins_p.K101fs|CYB5R2_ENST00000299498.6_Frame_Shift_Ins_p.K101fs|CYB5R2_ENST00000299497.9_Frame_Shift_Ins_p.K101fs|CYB5R2_ENST00000528585.1_5'UTR			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	101	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTGAGTCATCTTCCCACCTTC	0.48																																						ENST00000533558.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						c.(301-303)aatfs		cytochrome b5 reductase 2																																				SO:0001589	frameshift_variant	51700				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	g.chr11:7690521_7690522insT	AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.303dupA	11.37:g.7690523_7690523dupT	ENSP00000437041:p.Lys101fs					CYB5R2_ENST00000299497.9_Frame_Shift_Ins_p.N101fs|CYB5R2_ENST00000299498.6_Frame_Shift_Ins_p.N101fs|CYB5R2_ENST00000524790.1_Frame_Shift_Ins_p.N101fs|CYB5R2_ENST00000528585.1_5'UTR	p.N101fs			Q6BCY4	NB5R2_HUMAN		Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	5	858_859	-			101			FAD-binding FR-type.		Q9BVA3|Q9UF68|Q9UHJ0	Frame_Shift_Ins	INS	ENST00000533558.1	37	c.302_303insA	CCDS7780.1																																																																																				0.480	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229		19	119						19	119	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57605075	57605075	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr12:57605075delA	ENST00000243077.3	+	84	13499	c.13033delA	c.(13033-13035)agcfs	p.S4345fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4345	EGF-like 21. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GAACAAGTGCAGCCGCTGTCT	0.602																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(13033-13035)gcfs		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						92.0	83.0	86.0					12																	57605075		2203	4300	6503	SO:0001589	frameshift_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57605075delA	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.13033delA	12.37:g.57605075delA	ENSP00000243077:p.Ser4345fs						p.S4345fs	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	84	13499	+			4345			EGF-like 21.		Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Del	DEL	ENST00000243077.3	37	c.13033delA	CCDS8932.1																																																																																				0.602	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		13	66						13	66	---	---	---	---
THEG	51298	broad.mit.edu	37	19	362245	362246	+	Frame_Shift_Ins	INS	-	-	G			TCGA-F7-8489-01A-31D-2394-08	TCGA-F7-8489-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	702621bc-dd44-44d3-bfba-0fc509c33c57	21f04929-8c75-46aa-9988-6135919c04b3	g.chr19:362245_362246insG	ENST00000342640.4	-	8	1136_1137	c.1094_1095insC	c.(1093-1095)ccafs	p.P365fs	THEG_ENST00000346878.2_Frame_Shift_Ins_p.P341fs	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	365					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GTGATGCTTTTGGGGGTGGCAA	0.584																																						ENST00000342640.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(1093-1095)caafs		theg spermatid protein																																				SO:0001589	frameshift_variant	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:362245_362246insG	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.1095dupC	19.37:g.362250_362250dupG	ENSP00000340088:p.Pro365fs					THEG_ENST00000346878.2_Frame_Shift_Ins_p.Q341fs	p.Q365fs	NM_016585.4	NP_057669.1	Q9P2T0	THEG_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)	8	1136_1137	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	365					A6NMJ8	Frame_Shift_Ins	INS	ENST00000342640.4	37	c.1094_1095insC	CCDS12025.1																																																																																				0.584	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			13	141						13	141	---	---	---	---
