#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_match_norm_validation_allele1	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_tumor_sample
DCDC2B	149069	broad.mit.edu	37	1	32678173	32678173	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:32678173G>A	ENST00000409358.1	+	5	610	c.610G>A	c.(610-612)Gag>Aag	p.E204K		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	204	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CGGAGAGGATGAGTTCAAGGA	0.612																																						uc001bun.2		NaN																	0					0						c.(610-612)GAG>AAG		doublecortin domain containing 2B							84.0	90.0	88.0					1																	32678173		2010	4165	6175	SO:0001583	missense	149069				intracellular signal transduction			g.chr1:32678173G>A	BC128073	CCDS44100.1	1p35.1	2008-05-13			ENSG00000222046	ENSG00000222046			32576	protein-coding gene	gene with protein product							Standard	NM_001099434		Approved		uc001bun.2	A2VCK2	OTTHUMG00000005741	ENST00000409358.1:c.610G>A	1.37:g.32678173G>A	ENSP00000386870:p.Glu204Lys						p.E204K	NM_001099434	NP_001092904	A2VCK2	DCD2B_HUMAN			5	610	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	204			Doublecortin 2.		B7ZBC6	Missense_Mutation	SNP	ENST00000409358.1	37	c.610G>A	CCDS44100.1	.	.	.	.	.	.	.	.	.	.	G	4.304	0.055648	0.08291	.	.	ENSG00000222046	ENST00000409358	D	0.91740	-2.9	5.23	5.23	0.72850	Doublecortin domain (5);	.	.	.	.	T	0.81039	0.4740	N	0.12182	0.205	0.29561	N	0.85063	B	0.14012	0.009	B	0.17098	0.017	T	0.67669	-0.5611	9	0.02654	T	1	.	8.8511	0.35201	0.0798:0.1517:0.7685:0.0	.	204	A2VCK2	DCD2B_HUMAN	K	204	ENSP00000386870:E204K	ENSP00000386870:E204K	E	+	1	0	DCDC2B	32450760	0.999000	0.42202	0.812000	0.32479	0.708000	0.40852	2.568000	0.45965	2.615000	0.88500	0.655000	0.94253	GAG		0.612	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328293.1		XM_940631		33	85	0	0	0	0.009535	0	33	85		
HPCA	3208	broad.mit.edu	37	1	33354707	33354707	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:33354707C>T	ENST00000373467.3	+	2	310	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	70	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inner ear development (GO:0048839)		actin binding (GO:0003779)|calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				GCACGTCTTCCGCACCTTTGA	0.557																																						uc001bwh.2		NaN																	0				ovary(1)	1						c.(208-210)CGC>TGC		hippocalcin							134.0	119.0	124.0					1																	33354707		2203	4300	6503	SO:0001583	missense	3208						actin binding|calcium ion binding	g.chr1:33354707C>T	BC001777	CCDS370.1	1p35-p34.2	2013-01-10			ENSG00000121905	ENSG00000121905		"""EF-hand domain containing"""	5144	protein-coding gene	gene with protein product		142622				8166736, 9931466	Standard	NM_002143		Approved		uc001bwh.3	P84074	OTTHUMG00000004017	ENST00000373467.3:c.208C>T	1.37:g.33354707C>T	ENSP00000362566:p.Arg70Cys						p.R70C	NM_002143	NP_002134	P84074	HPCA_HUMAN			2	248	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	70			EF-hand 2.		B2R9T3|D3DPQ7|P32076|P41211|P70510	Missense_Mutation	SNP	ENST00000373467.3	37	c.208C>T	CCDS370.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124699	0.94429	.	.	ENSG00000121905	ENST00000373467	T	0.56444	0.46	5.22	5.22	0.72569	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.80778	0.4688	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85431	0.1149	10	0.72032	D	0.01	.	17.9008	0.88902	0.0:1.0:0.0:0.0	.	70	P84074	HPCA_HUMAN	C	70	ENSP00000362566:R70C	ENSP00000362566:R70C	R	+	1	0	HPCA	33127294	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.580000	0.82523	2.894000	0.99253	0.655000	0.94253	CGC		0.557	HPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011480.1		NM_002143		37	119	0	0	0	0.009718	0	37	119		
MACF1	23499	broad.mit.edu	37	1	39851577	39851577	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:39851577C>T	ENST00000372915.3	+	56	14422	c.14335C>T	c.(14335-14337)Ctc>Ttc	p.L4779F	MACF1_ENST00000539005.1_Missense_Mutation_p.L2691F|MACF1_ENST00000289893.4_Missense_Mutation_p.L3214F|MACF1_ENST00000317713.7_Missense_Mutation_p.L2712F|MACF1_ENST00000567887.1_Missense_Mutation_p.L4811F|MACF1_ENST00000564288.1_Missense_Mutation_p.L4774F|MACF1_ENST00000545844.1_Missense_Mutation_p.L2712F|MACF1_ENST00000361689.2_Missense_Mutation_p.L2712F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4779					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCCCTGCCTCTCCAAGGTTT	0.483																																						uc010oiu.1		NaN																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(9640-9642)CTC>TTC		microfilament and actin filament cross-linker							74.0	72.0	73.0					1																	39851577		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39851577C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14335C>T	1.37:g.39851577C>T	ENSP00000362006:p.Leu4779Phe					MACF1_uc010ois.1_Missense_Mutation_p.L2712F|MACF1_uc001cda.1_Missense_Mutation_p.L2599F|MACF1_uc001cdc.1_Missense_Mutation_p.L1778F	p.L3214F	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		21	9771	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4779			LRR 18.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.9640C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.20|15.20	2.761659|2.761659	0.49468|0.49468	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.34472|.	1.36;1.36;1.36;1.36;1.36;1.36|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.52532|.	D|.	0.000064|.	T|T	0.56108|0.56108	0.1963|0.1963	N|N	0.20483|0.20483	0.58|0.58	0.80722|0.80722	D|D	1|1	D;B;B|.	0.89917|.	1.0;0.052;0.024|.	D;B;B|.	0.97110|.	1.0;0.043;0.043|.	T|T	0.46803|0.46803	-0.9165|-0.9165	10|5	0.07175|.	T|.	0.84|.	.|.	20.6208|20.6208	0.99490|0.99490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4779;2712;2656|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	F|F	2712;4779;2712;2712;2691;3214|1824	ENSP00000439537:L2712F;ENSP00000362006:L4779F;ENSP00000354573:L2712F;ENSP00000313438:L2712F;ENSP00000444364:L2691F;ENSP00000289893:L3214F|.	ENSP00000289893:L3214F|.	L|S	+|+	1|2	0|0	MACF1|MACF1	39624164|39624164	0.973000|0.973000	0.33851|0.33851	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	2.262000|2.262000	0.43285|0.43285	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.483	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		24	54	0	0	0	0.00632	0	24	54		
GLIS1	148979	broad.mit.edu	37	1	54060263	54060263	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:54060263G>A	ENST00000312233.2	-	3	879	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGGGGGCTCCGGAGTCCATTT	0.662																																						uc001cvr.1		NaN																	0				skin(1)	1						c.(313-315)CGG>TGG		GLIS family zinc finger 1							21.0	26.0	25.0					1																	54060263		2180	4246	6426	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:54060263G>A	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.313C>T	1.37:g.54060263G>A	ENSP00000309653:p.Arg105Trp						p.R105W	NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN			3	880	-			105						Missense_Mutation	SNP	ENST00000312233.2	37	c.313C>T	CCDS582.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.180676	0.78677	.	.	ENSG00000174332	ENST00000312233	T	0.14144	2.53	4.8	4.8	0.61643	.	0.000000	0.48767	D	0.000166	T	0.16769	0.0403	L	0.32530	0.975	0.39808	D	0.972665	D	0.71674	0.998	P	0.47528	0.549	T	0.01537	-1.1330	10	0.66056	D	0.02	.	16.923	0.86168	0.0:0.0:1.0:0.0	.	105	Q8NBF1	GLIS1_HUMAN	W	105	ENSP00000309653:R105W	ENSP00000309653:R105W	R	-	1	2	GLIS1	53832851	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.668000	0.37481	2.606000	0.88127	0.563000	0.77884	CGG		0.662	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1		NM_147193		9	33	0	0	0	0.010729	0	9	33		
LRRIQ3	127255	broad.mit.edu	37	1	74507362	74507362	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:74507362C>T	ENST00000395089.1	-	6	1252	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.R418Q			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	418								p.R418Q(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ACTAAATGTTCGGAGTTTCAT	0.363																																						uc001dfy.3		NaN																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(1252-1254)CGA>CAA		leucine-rich repeats and IQ motif containing 3							142.0	129.0	133.0					1																	74507362		1842	4079	5921	SO:0001583	missense	127255							g.chr1:74507362C>T	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1253G>A	1.37:g.74507362C>T	ENSP00000378524:p.Arg418Gln					LRRIQ3_uc001dfz.3_Intron	p.R418Q	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			7	1445	-			418					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.1253G>A	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	C	1.278	-0.611068	0.03690	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.07327	3.2;3.2	5.77	-0.808	0.10868	.	1.149140	0.06593	N	0.752394	T	0.00815	0.0027	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48210	-0.9055	10	0.15066	T	0.55	.	4.9936	0.14228	0.0:0.3728:0.1681:0.459	.	418	A6PVS8	LRIQ3_HUMAN	Q	418	ENSP00000378524:R418Q;ENSP00000346414:R418Q	ENSP00000346414:R418Q	R	-	2	0	LRRIQ3	74279950	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.053000	0.11846	0.182000	0.20032	-1.155000	0.01812	CGA		0.363	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1		NM_145258		13	30	0	0	0	0.013537	0	13	30		
LPHN2	23266	broad.mit.edu	37	1	82436188	82436188	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:82436188T>C	ENST00000370728.1	+	18	3557	c.2912T>C	c.(2911-2913)aTt>aCt	p.I971T	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.I971T|LPHN2_ENST00000319517.6_Missense_Mutation_p.I958T|LPHN2_ENST00000394879.1_Missense_Mutation_p.I958T|LPHN2_ENST00000370723.1_Missense_Mutation_p.I958T|LPHN2_ENST00000271029.4_Missense_Mutation_p.I971T|LPHN2_ENST00000370727.1_Missense_Mutation_p.I971T|LPHN2_ENST00000370730.1_Missense_Mutation_p.I971T|LPHN2_ENST00000370715.1_Missense_Mutation_p.I958T|LPHN2_ENST00000359929.3_Missense_Mutation_p.I958T|LPHN2_ENST00000335786.5_Missense_Mutation_p.I971T|LPHN2_ENST00000370721.1_Missense_Mutation_p.I896T|LPHN2_ENST00000370713.1_Missense_Mutation_p.I958T|LPHN2_ENST00000370725.1_Missense_Mutation_p.I971T			O95490	LPHN2_HUMAN	latrophilin 2	971					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCAGCTGCTATTGACTATAAG	0.353																																						uc001dit.3		NaN																	0				ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(2872-2874)ATT>ACT		latrophilin 2 precursor							94.0	93.0	93.0					1																	82436188		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82436188T>C	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2912T>C	1.37:g.82436188T>C	ENSP00000359763:p.Ile971Thr					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Missense_Mutation_p.I958T|LPHN2_uc001div.2_Missense_Mutation_p.I958T|LPHN2_uc009wcd.2_Missense_Mutation_p.I958T|LPHN2_uc001diw.2_Missense_Mutation_p.I542T|LPHN2_uc009wce.1_Missense_Mutation_p.I44T	p.I958T	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	15	3054	+			971			Helical; Name=4; (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.2873T>C		.	.	.	.	.	.	.	.	.	.	T	19.91	3.914658	0.72983	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11;1.11	5.83	5.83	0.93111	GPCR, family 2-like (1);	0.053437	0.64402	D	0.000001	T	0.49966	0.1588	L	0.57130	1.785	0.58432	D	0.999998	P;P;P;P	0.52577	0.925;0.739;0.912;0.954	P;P;P;P	0.59825	0.864;0.543;0.628;0.786	T	0.54437	-0.8294	10	0.87932	D	0	.	16.1846	0.81942	0.0:0.0:0.0:1.0	.	971;958;958;958	O95490;O95490-3;O95490-4;O95490-2	LPHN2_HUMAN;.;.;.	T	896;971;971;971;971;958;958;958;958;958;971;958;971;971	ENSP00000359756:I896T;ENSP00000359763:I971T;ENSP00000359765:I971T;ENSP00000359762:I971T;ENSP00000359760:I971T;ENSP00000359758:I958T;ENSP00000353006:I958T;ENSP00000359750:I958T;ENSP00000359748:I958T;ENSP00000322270:I958T;ENSP00000359752:I971T;ENSP00000378344:I958T;ENSP00000271029:I971T;ENSP00000337306:I971T	ENSP00000271029:I971T	I	+	2	0	LPHN2	82208776	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.229000	0.72834	0.533000	0.62120	ATT		0.353	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1		NM_012302		11	35	0	0	0	0.010729	0	11	35		
CELSR2	1952	broad.mit.edu	37	1	109806339	109806339	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:109806339C>T	ENST00000271332.3	+	9	5002	c.4941C>T	c.(4939-4941)cgC>cgT	p.R1647R		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1647	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCCGCACGCGCCAGGCCGACG	0.667											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NaN																	0				ovary(4)|lung(3)|skin(1)	8						c.(4939-4941)CGC>CGT		cadherin EGF LAG seven-pass G-type receptor 2							67.0	66.0	66.0					1																	109806339		2203	4300	6503	SO:0001819	synonymous_variant	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109806339C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4941C>T	1.37:g.109806339C>T			OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1422		p.R1647R	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	9	5002	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1647			Extracellular (Potential).|Laminin G-like 2.		Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.4941C>T	CCDS796.1																																																																																				0.667	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1		NM_001408		39	104	0	0	0	0.00874	0	39	104		
FAM212B	55924	broad.mit.edu	37	1	112269937	112269937	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:112269937C>G	ENST00000357260.5	-	2	728	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	FAM212B_ENST00000444059.2_Missense_Mutation_p.E168Q|FAM212B_ENST00000534365.1_Intron	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	183										cervix(1)|endometrium(1)	2						CCCCCAGTCTCACCCTTCTCC	0.577																																						uc001ebo.1		NaN																	0				ovary(2)	2						c.(547-549)GAG>CAG		hypothetical protein LOC55924 isoform 1							69.0	66.0	67.0					1																	112269937		2203	4300	6503	SO:0001583	missense	55924							g.chr1:112269937C>G	AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 183"""	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.547G>C	1.37:g.112269937C>G	ENSP00000349805:p.Glu183Gln					C1orf183_uc001ebp.1_Missense_Mutation_p.E168Q	p.E183Q	NM_019099	NP_061972	Q9NTI7	CA183_HUMAN		Lung(183;0.0155)|Colorectal(144;0.0289)|all cancers(265;0.0592)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0852)|COAD - Colon adenocarcinoma(174;0.113)	2	705	-		all_cancers(81;7.29e-06)|all_epithelial(167;4.98e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.16e-05)	183					B3KP38|B4DF94|Q9NTI6	Missense_Mutation	SNP	ENST00000357260.5	37	c.547G>C	CCDS841.1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494122	0.64186	.	.	ENSG00000197852	ENST00000357260;ENST00000444059	.	.	.	5.3	5.3	0.74995	.	0.052579	0.64402	D	0.000001	T	0.39436	0.1078	L	0.40543	1.245	0.19300	N	0.999971	D;D	0.57899	0.981;0.981	P;P	0.59487	0.813;0.858	T	0.21690	-1.0238	9	0.30078	T	0.28	-27.8925	17.7197	0.88347	0.0:1.0:0.0:0.0	.	168;183	Q9NTI7-2;Q9NTI7	.;CA183_HUMAN	Q	183;168	.	ENSP00000349805:E183Q	E	-	1	0	C1orf183	112071460	0.987000	0.35691	0.719000	0.30619	0.849000	0.48306	4.523000	0.60545	2.472000	0.83506	0.484000	0.47621	GAG		0.577	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033060.2		NM_019099		68	53	0	0	0	0.01441	0	68	53		
PDE4DIP	9659	broad.mit.edu	37	1	144923816	144923816	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:144923816C>A	ENST00000369354.3	-	6	831	c.642G>T	c.(640-642)atG>atT	p.M214I	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.M280I|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.M214I|PDE4DIP_ENST00000479408.2_Start_Codon_SNP_p.M1I|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.M377I|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.M214I|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.M351I|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.M377I|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.M351I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.M214I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	214					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTCTTCAGTCATGGGCTAGG	0.398			T	PDGFRB	MPD																																	uc001elw.3		NaN		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(640-642)ATG>ATT		phosphodiesterase 4D interacting protein isoform							170.0	159.0	163.0					1																	144923816		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144923816C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.642G>T	1.37:g.144923816C>A	ENSP00000358360:p.Met214Ile					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.M280I|PDE4DIP_uc001emc.1_Missense_Mutation_p.M214I|PDE4DIP_uc001emd.1_Missense_Mutation_p.M214I|PDE4DIP_uc001emb.1_Missense_Mutation_p.M377I|PDE4DIP_uc001eme.1_5'Flank|PDE4DIP_uc001emf.1_Missense_Mutation_p.M1I	p.M214I	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	6	933	-			214					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.642G>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	5.713	0.316130	0.10789	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.10960	4.84;4.93;4.93;4.93;4.93;3.93;3.94;2.82;2.82;2.88	5.84	3.8	0.43715	.	.	.	.	.	T	0.02455	0.0075	N	0.15975	0.35	0.18873	N	0.999988	B;B;B;B;B	0.10296	0.0;0.0;0.0;0.003;0.0	B;B;B;B;B	0.10450	0.0;0.002;0.002;0.005;0.001	T	0.42899	-0.9424	9	0.52906	T	0.07	.	10.3218	0.43771	0.1442:0.7757:0.0:0.0801	.	377;214;377;280;214	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	I	280;214;214;377;351;351;214;214;377;377;1	ENSP00000327209:M280I;ENSP00000358360:M214I;ENSP00000358363:M214I;ENSP00000435654:M351I;ENSP00000358366:M351I;ENSP00000358357:M214I;ENSP00000358355:M214I;ENSP00000316434:M377I;ENSP00000433392:M377I;ENSP00000436791:M1I	ENSP00000327209:M280I	M	-	3	0	PDE4DIP	143635173	0.360000	0.24964	0.142000	0.22268	0.648000	0.38561	1.631000	0.37092	1.471000	0.48121	0.655000	0.94253	ATG		0.398	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359		20	191	1	0	1.15919e-05	0.008871	1.20509e-05	20	191		
ZNF687	57592	broad.mit.edu	37	1	151260360	151260360	+	Silent	SNP	C	C	T	rs142842127	byFrequency	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:151260360C>T	ENST00000368879.2	+	2	1691	c.1593C>T	c.(1591-1593)acC>acT	p.T531T		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	531					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCCTCCCACCGGCTACCGCT	0.617																																						uc001exq.2		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(1591-1593)ACC>ACT		zinc finger protein 687		C		2,4402		0,2,2200	39.0	39.0	39.0		1593	-10.8	0.0	1	dbSNP_134	39	4,8596		0,4,4296	no	coding-synonymous	ZNF687	NM_020832.1		0,6,6496	TT,TC,CC		0.0465,0.0454,0.0461		531/1238	151260360	6,12998	2202	4300	6502	SO:0001819	synonymous_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151260360C>T		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.1593C>T	1.37:g.151260360C>T						ZNF687_uc001exp.1_Silent_p.T540T|ZNF687_uc009wmo.2_Silent_p.T531T|ZNF687_uc009wmp.2_Silent_p.T531T	p.T531T	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	1691	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		531					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Silent	SNP	ENST00000368879.2	37	c.1593C>T		.	.	.	.	.	.	.	.	.	.	C	2.414	-0.334716	0.05278	4.54E-4	4.65E-4	ENSG00000143373	ENST00000426871	.	.	.	5.4	-10.8	0.00216	.	.	.	.	.	T	0.13243	0.0321	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52087	-0.8622	4	.	.	.	.	1.4024	0.02273	0.2807:0.3304:0.1283:0.2607	.	.	.	.	L	134	.	.	P	+	2	0	ZNF687	149526984	0.000000	0.05858	0.000000	0.03702	0.896000	0.52359	-11.609000	0.00003	-4.141000	0.00070	-1.224000	0.01588	CCG		0.617	ZNF687-201	KNOWN	basic	protein_coding	protein_coding			NM_020832		15	76	0	0	0	0.003163	0	15	76		
APCS	325	broad.mit.edu	37	1	159557901	159557901	+	Silent	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:159557901G>C	ENST00000255040.2	+	2	172	c.75G>C	c.(73-75)ggG>ggC	p.G25G		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	25	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					ACCTCAGTGGGAAGGTGTTTG	0.393																																						uc001ftv.2		NaN																	0				ovary(1)|breast(1)	2						c.(73-75)GGG>GGC		serum amyloid P component precursor							89.0	89.0	89.0					1																	159557901		2203	4300	6503	SO:0001819	synonymous_variant	325				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	g.chr1:159557901G>C		CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"""pentaxin-related"", ""9.5S alpha-1-glycoprotein"""	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.75G>C	1.37:g.159557901G>C							p.G25G	NM_001639	NP_001630	P02743	SAMP_HUMAN			2	171	+	all_hematologic(112;0.0429)		25			Pentaxin.			Silent	SNP	ENST00000255040.2	37	c.75G>C	CCDS1186.1																																																																																				0.393	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059024.2		NM_001639		11	49	0	0	0	0.013537	0	11	49		
PVRL4	81607	broad.mit.edu	37	1	161046208	161046208	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:161046208C>G	ENST00000368012.3	-	4	1090	c.788G>C	c.(787-789)aGa>aCa	p.R263T	PVRL4_ENST00000486694.1_5'Flank|PVRL4_ENST00000453926.2_5'UTR	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	263	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGCTCCTTCTCTGCCAATGTG	0.552																																					NSCLC(76;1160 1387 14476 16172 29359)	uc001fxo.2		NaN																	0				ovary(2)	2						c.(787-789)AGA>ACA		poliovirus receptor-related 4 precursor							99.0	89.0	92.0					1																	161046208		2203	4300	6503	SO:0001583	missense	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161046208C>G	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.788G>C	1.37:g.161046208C>G	ENSP00000356991:p.Arg263Thr					PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_5'UTR	p.R263T	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		4	1087	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		263			Ig-like C2-type 2.|Extracellular (Potential).		B4DQW3|Q96K15	Missense_Mutation	SNP	ENST00000368012.3	37	c.788G>C	CCDS1216.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398041	0.62177	.	.	ENSG00000143217	ENST00000368012	T	0.44482	0.92	4.99	3.13	0.36017	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);	0.185207	0.37577	N	0.002031	T	0.23965	0.0580	L	0.46885	1.475	0.80722	D	1	P	0.52842	0.956	P	0.47528	0.549	T	0.02743	-1.1116	10	0.41790	T	0.15	.	7.1623	0.25671	0.0:0.8019:0.0:0.1981	.	263	Q96NY8	PVRL4_HUMAN	T	263	ENSP00000356991:R263T	ENSP00000356991:R263T	R	-	2	0	PVRL4	159312832	0.934000	0.31675	0.948000	0.38648	0.982000	0.71751	0.085000	0.14912	0.694000	0.31654	0.650000	0.86243	AGA		0.552	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1		NM_030916		44	66	0	0	0	0.00874	0	44	66		
FCGR2A	2212	broad.mit.edu	37	1	161480706	161480706	+	Silent	SNP	T	T	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:161480706T>A	ENST00000271450.6	+	5	740	c.702T>A	c.(700-702)gcT>gcA	p.A234A	RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Silent_p.A233A	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	234					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTGTTGCTGCTGTAGTGGCCT	0.517																																						uc001gan.2		NaN																	0				ovary(1)	1						c.(700-702)GCT>GCA		Fc fragment of IgG, low affinity IIa, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						302.0	296.0	298.0					1																	161480706		2203	4300	6503	SO:0001819	synonymous_variant	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161480706T>A	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.702T>A	1.37:g.161480706T>A						FCGR2A_uc001gam.2_Silent_p.A233A|FCGR2A_uc001gao.2_RNA	p.A234A	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	755	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		234			Helical; (Potential).		Q8WUN1|Q8WW64	Silent	SNP	ENST00000271450.6	37	c.702T>A	CCDS44264.1																																																																																				0.517	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3		NM_021642		47	225	0	0	0	0.01441	0	47	225		
GORAB	92344	broad.mit.edu	37	1	170511708	170511708	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:170511708C>G	ENST00000367763.3	+	3	591	c.571C>G	c.(571-573)Ctt>Gtt	p.L191V	GORAB_ENST00000367762.1_Missense_Mutation_p.L191V	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	191						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						TAAAAAAGCTCTTTTGGCTAA	0.403																																						uc001gha.2		NaN																	0					0						c.(571-573)CTT>GTT		golgin, RAB6-interacting isoform a							137.0	145.0	143.0					1																	170511708		2203	4300	6503	SO:0001583	missense	92344					Golgi apparatus|nucleus		g.chr1:170511708C>G	AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.571C>G	1.37:g.170511708C>G	ENSP00000356737:p.Leu191Val					GORAB_uc001ggz.3_Missense_Mutation_p.L191V|GORAB_uc009wvx.2_Missense_Mutation_p.L11V|GORAB_uc001ghb.2_Missense_Mutation_p.L11V|GORAB_uc001ghc.2_Missense_Mutation_p.L11V|GORAB_uc001ghd.2_5'Flank	p.L191V	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN			3	598	+			191			Potential.		Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Missense_Mutation	SNP	ENST00000367763.3	37	c.571C>G	CCDS1289.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738498	0.69304	.	.	ENSG00000120370	ENST00000367763;ENST00000367762	T;T	0.64803	-0.12;-0.12	5.88	2.49	0.30216	.	0.196954	0.43416	N	0.000566	T	0.64605	0.2613	M	0.75777	2.31	0.39810	D	0.97269	D	0.71674	0.998	D	0.63597	0.916	T	0.68014	-0.5521	10	0.72032	D	0.01	-14.189	7.8563	0.29485	0.0:0.6614:0.1258:0.2127	.	191	Q5T7V8	GORAB_HUMAN	V	191	ENSP00000356737:L191V;ENSP00000356736:L191V	ENSP00000356736:L191V	L	+	1	0	GORAB	168778332	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.447000	0.35101	0.795000	0.33922	0.655000	0.94253	CTT		0.403	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1		NM_152281		20	89	0	0	0	0.014323	0	20	89		
IVNS1ABP	10625	broad.mit.edu	37	1	185269586	185269586	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:185269586G>C	ENST00000367498.3	-	11	1847	c.1225C>G	c.(1225-1227)Caa>Gaa	p.Q409E	IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.Q191E|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	409					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ACAGCCATTTGAAATCGGGCT	0.428																																						uc001grl.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(1225-1227)CAA>GAA		influenza virus NS1A binding protein							120.0	124.0	123.0					1																	185269586		2203	4300	6503	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185269586G>C	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1225C>G	1.37:g.185269586G>C	ENSP00000356468:p.Gln409Glu					IVNS1ABP_uc001gri.2_Missense_Mutation_p.Q69E|IVNS1ABP_uc001grj.2_Missense_Mutation_p.Q69E|IVNS1ABP_uc009wyj.2_Missense_Mutation_p.Q191E|IVNS1ABP_uc009wyk.2_RNA|IVNS1ABP_uc001grm.2_Missense_Mutation_p.Q69E	p.Q409E	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN			11	1848	-			409			Kelch 1.		A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.1225C>G	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.505484	0.44558	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	T;T	0.76968	-1.06;-1.06	5.76	5.76	0.90799	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.72669	0.3489	N	0.25647	0.755	0.80722	D	1	P;B;B	0.35944	0.529;0.449;0.327	B;B;B	0.38712	0.194;0.191;0.28	T	0.74699	-0.3577	10	0.72032	D	0.01	.	19.9857	0.97347	0.0:0.0:1.0:0.0	.	191;110;409	A8MVR0;Q6MZF3;Q9Y6Y0	.;.;NS1BP_HUMAN	E	409;191	ENSP00000356468:Q409E;ENSP00000375864:Q191E	ENSP00000356468:Q409E	Q	-	1	0	IVNS1ABP	183536209	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.689000	0.98673	2.706000	0.92434	0.655000	0.94253	CAA		0.428	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1		NM_006469		5	29	0	0	0	0.000602	0	5	29		
IL19	29949	broad.mit.edu	37	1	207014389	207014389	+	Missense_Mutation	SNP	A	A	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:207014389A>T	ENST00000270218.6	+	6	1343	c.404A>T	c.(403-405)aAt>aTt	p.N135I	IL19_ENST00000340758.2_Missense_Mutation_p.N173I	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	135					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			GAAGCCACCAATGCCACCAGA	0.517																																						uc001hep.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(403-405)AAT>ATT		interleukin 19 isoform 2 precursor							126.0	95.0	106.0					1																	207014389		2203	4300	6503	SO:0001583	missense	29949				apoptosis|immune response|signal transduction	extracellular space	cytokine activity	g.chr1:207014389A>T	AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"""Interleukins and interleukin receptors"""	5990	protein-coding gene	gene with protein product	"""melanoma differentiation associated protein-like protein"""	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.404A>T	1.37:g.207014389A>T	ENSP00000270218:p.Asn135Ile					IL19_uc001heo.2_Missense_Mutation_p.N173I	p.N135I	NM_013371	NP_037503	Q9UHD0	IL19_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		6	1343	+			135					B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Missense_Mutation	SNP	ENST00000270218.6	37	c.404A>T	CCDS1469.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.409487	0.42715	.	.	ENSG00000142224	ENST00000340758;ENST00000270218	T;T	0.18174	2.23;2.23	5.71	3.42	0.39159	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.561477	0.21175	N	0.078911	T	0.33206	0.0855	M	0.63428	1.95	0.30664	N	0.754088	D;D	0.62365	0.964;0.991	P;D	0.67900	0.889;0.954	T	0.21999	-1.0229	10	0.52906	T	0.07	.	8.2218	0.31545	0.8762:0.0:0.1238:0.0	.	135;173	Q9UHD0;Q5VUT3	IL19_HUMAN;.	I	173;135	ENSP00000343000:N173I;ENSP00000270218:N135I	ENSP00000270218:N135I	N	+	2	0	IL19	205081012	0.057000	0.20700	0.645000	0.29479	0.281000	0.26958	1.171000	0.31896	0.452000	0.26830	0.482000	0.46254	AAT		0.517	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088567.2		NM_153758		13	27	0	0	0	0.013537	0	13	27		
CEP170	9859	broad.mit.edu	37	1	243328008	243328008	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:243328008G>A	ENST00000366542.1	-	13	3305	c.3254C>T	c.(3253-3255)tCa>tTa	p.S1085L	CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366543.1_Missense_Mutation_p.S987L|CEP170_ENST00000366544.1_Missense_Mutation_p.S987L|RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1085	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTTACTAGATGAACCAGATAC	0.483																																						uc001hzs.2		NaN																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(3253-3255)TCA>TTA		centrosomal protein 170kDa isoform alpha							58.0	56.0	56.0					1																	243328008		1931	4118	6049	SO:0001583	missense	9859					centriole|microtubule|spindle		g.chr1:243328008G>A	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3254C>T	1.37:g.243328008G>A	ENSP00000355500:p.Ser1085Leu					CEP170_uc001hzt.2_Missense_Mutation_p.S987L|CEP170_uc001hzu.2_Missense_Mutation_p.S987L|CEP170_uc001hzv.1_Missense_Mutation_p.S463L	p.S1085L	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)		13	3662	-	all_neural(11;0.101)	all_cancers(173;0.003)	1085			Targeting to microtubules.		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	c.3254C>T	CCDS44339.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.20|11.20	1.567253|1.567253	0.28003|0.28003	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000366544;ENST00000366543;ENST00000532008	.|T;T;T	.|0.50548	.|0.77;0.77;0.74	5.04|5.04	4.13|4.13	0.48395|0.48395	.|.	.|0.343513	.|0.31312	.|N	.|0.007872	T|T	0.22898|0.22898	0.0553|0.0553	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|P;B;B;B	.|0.44429	.|0.835;0.228;0.228;0.179	.|B;B;B;B	.|0.36567	.|0.228;0.058;0.083;0.058	T|T	0.03545|0.03545	-1.1026|-1.1026	5|10	.|0.33141	.|T	.|0.24	-3.1231|-3.1231	8.319|8.319	0.32117|0.32117	0.084:0.0:0.7521:0.1639|0.084:0.0:0.7521:0.1639	.|.	.|1048;987;987;1085	.|B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.|.;.;.;CE170_HUMAN	Y|L	1049|1085;987;987;46	.|ENSP00000355500:S1085L;ENSP00000355502:S987L;ENSP00000355501:S987L	.|ENSP00000355500:S1085L	H|S	-|-	1|2	0|0	CEP170|CEP170	241394631|241394631	0.998000|0.998000	0.40836|0.40836	0.829000|0.829000	0.32907|0.32907	0.543000|0.543000	0.35085|0.35085	2.757000|2.757000	0.47557|0.47557	1.107000|1.107000	0.41642|0.41642	0.555000|0.555000	0.69702|0.69702	CAT|TCA		0.483	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2		NM_014812		4	34	0	0	0	0.001168	0	4	34		
OR2M7	391196	broad.mit.edu	37	1	248487560	248487560	+	Missense_Mutation	SNP	T	T	C	rs41304034		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:248487560T>C	ENST00000317965.2	-	1	339	c.311A>G	c.(310-312)tAt>tGt	p.Y104C		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAATGATATATAGAAGAAAAT	0.458																																						uc010pzk.1		NaN																	0				skin(2)	2						c.(310-312)TAT>TGT		olfactory receptor, family 2, subfamily M,							187.0	196.0	193.0					1																	248487560		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487560T>C	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.311A>G	1.37:g.248487560T>C	ENSP00000324557:p.Tyr104Cys						p.Y104C	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	311	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		104			Helical; Name=3; (Potential).		B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.311A>G	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	T	4.930	0.172719	0.09391	.	.	ENSG00000177186	ENST00000317965	T	0.00397	7.57	1.54	-0.0123	0.13989	GPCR, rhodopsin-like superfamily (1);	0.315968	0.17562	U	0.169772	T	0.00271	0.0008	M	0.64997	1.995	0.09310	N	1	B	0.24043	0.096	B	0.25614	0.062	T	0.46679	-0.9174	10	0.66056	D	0.02	.	2.5331	0.04708	0.4896:0.1875:0.0:0.3228	rs41304034	104	Q8NG81	OR2M7_HUMAN	C	104	ENSP00000324557:Y104C	ENSP00000324557:Y104C	Y	-	2	0	OR2M7	246554183	0.000000	0.05858	0.029000	0.17559	0.075000	0.17131	0.333000	0.19768	0.703000	0.31848	0.155000	0.16302	TAT		0.458	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1		NM_001004691		62	74	0	0	0	0.01441	0	62	74		
KIN	22944	broad.mit.edu	37	10	7816818	7816818	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:7816818G>A	ENST00000379562.4	-	7	691	c.644C>T	c.(643-645)tCc>tTc	p.S215F	KIN_ENST00000535925.1_Missense_Mutation_p.S215F|KIN_ENST00000543003.1_Missense_Mutation_p.S109F	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						TGTTGCTCCGGATGAGCTACA	0.313																																						uc001ijt.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(643-645)TCC>TTC		HsKin17 protein							138.0	140.0	139.0					10																	7816818		2203	4300	6503	SO:0001583	missense	22944				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	g.chr10:7816818G>A	AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.644C>T	10.37:g.7816818G>A	ENSP00000368881:p.Ser215Phe					KIN_uc010qaz.1_RNA|KIN_uc009xip.2_Missense_Mutation_p.S215F|KIN_uc010qba.1_Missense_Mutation_p.S109F	p.S215F	NM_012311	NP_036443	O60870	KIN17_HUMAN			7	692	-			215						Missense_Mutation	SNP	ENST00000379562.4	37	c.644C>T	CCDS7080.1	.	.	.	.	.	.	.	.	.	.	G	3.356	-0.131427	0.06753	.	.	ENSG00000151657	ENST00000535925;ENST00000379562;ENST00000543003	.	.	.	4.96	3.05	0.35203	.	1.106810	0.06726	N	0.775849	T	0.28532	0.0706	L	0.40543	1.245	0.09310	N	1	P;B;B	0.37636	0.603;0.037;0.037	B;B;B	0.26969	0.075;0.018;0.018	T	0.20009	-1.0288	9	0.52906	T	0.07	-1.6731	10.5128	0.44872	0.0771:0.4443:0.4787:0.0	.	109;215;215	F5GXB3;B4DX32;O60870	.;.;KIN17_HUMAN	F	215;215;109	.	ENSP00000368881:S215F	S	-	2	0	KIN	7856824	0.770000	0.28543	0.007000	0.13788	0.003000	0.03518	0.816000	0.27267	0.738000	0.32606	0.655000	0.94253	TCC		0.313	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2		NM_012311		18	87	0	0	0	0.008871	0	18	87		
DCLRE1C	64421	broad.mit.edu	37	10	14977537	14977537	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:14977537G>C	ENST00000378278.2	-	6	426	c.389C>G	c.(388-390)aCt>aGt	p.T130S	DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T15S|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T10S|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T10S|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.T130S|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T15S|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.T10S|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T10S|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T15S|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T10S			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	130					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GTACAGGACAGTTCCATTATT	0.443								Non-homologous end-joining																														uc001inn.2		NaN																	0				ovary(1)	1						c.(388-390)ACT>AGT	Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ	artemis protein isoform a							91.0	95.0	94.0					10																	14977537		2203	4300	6503	SO:0001583	missense	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14977537G>C	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.389C>G	10.37:g.14977537G>C	ENSP00000367527:p.Thr130Ser					DCLRE1C_uc010qbx.1_Missense_Mutation_p.T130S|DCLRE1C_uc001inl.2_Missense_Mutation_p.T10S|DCLRE1C_uc009xji.2_Missense_Mutation_p.T15S|DCLRE1C_uc001inm.2_Missense_Mutation_p.T10S|DCLRE1C_uc001ino.2_Missense_Mutation_p.T15S|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Missense_Mutation_p.T10S|DCLRE1C_uc001inq.2_Missense_Mutation_p.T10S|DCLRE1C_uc001inr.2_Missense_Mutation_p.T15S|DCLRE1C_uc009xjj.1_5'Flank	p.T130S	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN			6	474	-			130					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	c.389C>G	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	g	25.2	4.609316	0.87258	.	.	ENSG00000152457	ENST00000378289;ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378241;ENST00000456122	T;T;T;T;T;T;T;T;T;T;T;T	0.79352	-0.96;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.96;-0.82;-0.72;-1.26	5.65	5.65	0.86999	Beta-lactamase-like (1);	0.044093	0.85682	D	0.000000	D	0.84584	0.5504	L	0.45352	1.415	0.48632	D	0.999684	B;D;P	0.69078	0.12;0.997;0.782	B;D;P	0.66716	0.143;0.946;0.673	D	0.84375	0.0546	10	0.56958	D	0.05	.	20.1057	0.97893	0.0:0.0:1.0:0.0	.	130;15;130	Q96SD1-4;Q96SD1-3;Q96SD1	.;.;DCR1C_HUMAN	S	130;10;15;15;15;10;10;10;130;10;10;15	ENSP00000367538:T130S;ENSP00000400529:T10S;ENSP00000367492:T15S;ENSP00000350349:T15S;ENSP00000367496:T15S;ENSP00000380030:T10S;ENSP00000367503:T10S;ENSP00000367502:T10S;ENSP00000367527:T130S;ENSP00000367506:T10S;ENSP00000367487:T10S;ENSP00000413180:T15S	ENSP00000350349:T15S	T	-	2	0	DCLRE1C	15017543	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.909000	0.63314	2.827000	0.97445	0.650000	0.86243	ACT		0.443	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1		NM_022487		17	116	0	0	0	0.007413	0	17	116		
CCNY	219771	broad.mit.edu	37	10	35819118	35819118	+	Missense_Mutation	SNP	C	C	T	rs371273756		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:35819118C>T	ENST00000374704.4	+	7	706	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	CCNY_ENST00000374706.1_Missense_Mutation_p.R122W|CCNY_ENST00000339497.5_Missense_Mutation_p.R151W|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Missense_Mutation_p.R122W	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	176	Cyclin N-terminal.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						CCGGTTCGTTCGGACACTGTT	0.532																																						uc001iyw.3		NaN																	0					0						c.(526-528)CGG>TGG		cyclin Y isoform 1		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	120.0	85.0	97.0		526,364	5.9	1.0	10		97	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CCNY	NM_145012.4,NM_181698.2	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	176/342,122/288	35819118	1,13005	2203	4300	6503	SO:0001583	missense	219771				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding	g.chr10:35819118C>T	AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"""chromosome 10 open reading frame 9"""	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.526C>T	10.37:g.35819118C>T	ENSP00000363836:p.Arg176Trp					CCNY_uc001iyu.3_Missense_Mutation_p.R122W|CCNY_uc001iyv.3_Missense_Mutation_p.R122W|CCNY_uc001iyx.3_Missense_Mutation_p.R122W|CCNY_uc009xmb.2_Missense_Mutation_p.R151W|CCNY_uc010qet.1_Missense_Mutation_p.R43W	p.R176W	NM_145012	NP_659449	Q8ND76	CCNY_HUMAN			7	706	+			176			Cyclin N-terminal.		B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Missense_Mutation	SNP	ENST00000374704.4	37	c.526C>T	CCDS7189.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907046	0.72868	0.0	1.16E-4	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	5.91	5.91	0.95273	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	M	0.91510	3.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.53472	-0.8434	10	0.87932	D	0	-2.1857	20.2896	0.98541	0.0:1.0:0.0:0.0	.	43;151;176	B7Z8E4;Q8ND76-2;Q8ND76	.;.;CCNY_HUMAN	W	122;176;176;151;122;43	ENSP00000363838:R122W;ENSP00000363836:R176W;ENSP00000344275:R151W;ENSP00000265375:R122W	ENSP00000265375:R122W	R	+	1	2	CCNY	35859124	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	3.893000	0.56243	2.794000	0.96219	0.655000	0.94253	CGG		0.532	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2		NM_181698		17	42	0	0	0	0.004007	0	17	42		
VSTM4	196740	broad.mit.edu	37	10	50227712	50227712	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:50227712C>T	ENST00000332853.4	-	8	969	c.946G>A	c.(946-948)Gag>Aag	p.E316K	RP11-523O18.1_ENST00000422966.1_RNA	NM_001031746.3	NP_001026916.2	Q8IW00	VSTM4_HUMAN	V-set and transmembrane domain containing 4	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E316*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						TTGTTCTCCTCGAAGAGGATC	0.522																																						uc001jhf.2		NaN																	1	Substitution - Nonsense(1)		lung(1)		0						c.(946-948)GAG>AAG		hypothetical protein LOC196740 isoform 1							72.0	72.0	72.0					10																	50227712		2203	4300	6503	SO:0001583	missense	196740					integral to membrane|plasma membrane		g.chr10:50227712C>T	BC041414	CCDS7228.1, CCDS31198.1	10q11.23	2013-01-11	2011-07-01	2011-07-01	ENSG00000165633	ENSG00000165633		"""Immunoglobulin superfamily / V-set domain containing"""	26470	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 72"""	C10orf72			Standard	XR_246075		Approved	FLJ31737	uc001jhf.2	Q8IW00	OTTHUMG00000018184	ENST00000332853.4:c.946G>A	10.37:g.50227712C>T	ENSP00000331062:p.Glu316Lys						p.E316K	NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN			8	975	-			316			Cytoplasmic (Potential).		B4DNI6|Q96MX7	Missense_Mutation	SNP	ENST00000332853.4	37	c.946G>A	CCDS31198.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454624	0.63290	.	.	ENSG00000165633	ENST00000332853	T	0.08008	3.14	5.78	3.87	0.44632	.	0.412681	0.25654	N	0.029185	T	0.06050	0.0157	N	0.19112	0.55	0.80722	D	1	B	0.31351	0.32	B	0.21708	0.036	T	0.38156	-0.9674	10	0.32370	T	0.25	-27.5707	15.1327	0.72536	0.0:0.7325:0.2675:0.0	.	316	Q8IW00	VSTM4_HUMAN	K	316	ENSP00000331062:E316K	ENSP00000331062:E316K	E	-	1	0	VSTM4	49897718	0.993000	0.37304	0.827000	0.32855	0.988000	0.76386	2.371000	0.44248	0.844000	0.35094	0.591000	0.81541	GAG		0.522	VSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047966.2		NM_144984		18	59	0	0	0	0.008871	0	18	59		
CTNNA3	29119	broad.mit.edu	37	10	68979430	68979430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:68979430G>A	ENST00000433211.2	-	6	952	c.778C>T	c.(778-780)Cag>Tag	p.Q260*	CTNNA3_ENST00000373744.4_Nonsense_Mutation_p.Q260*|CTNNA3_ENST00000545309.1_Nonsense_Mutation_p.Q260*	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GTCATATTCTGGATCCCTTGT	0.458																																						uc009xpn.1		NaN																	0				skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(778-780)CAG>TAG		catenin, alpha 3							203.0	206.0	205.0					10																	68979430		2203	4300	6503	SO:0001587	stop_gained	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68979430G>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.778C>T	10.37:g.68979430G>A	ENSP00000389714:p.Gln260*					CTNNA3_uc001jmw.2_Nonsense_Mutation_p.Q260*|CTNNA3_uc001jmx.3_Nonsense_Mutation_p.Q260*|CTNNA3_uc009xpo.1_Nonsense_Mutation_p.Q120*|CTNNA3_uc001jna.2_Nonsense_Mutation_p.Q272*	p.Q260*	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			6	901	-			260						Nonsense_Mutation	SNP	ENST00000433211.2	37	c.778C>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	36	5.669968	0.96754	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	.	.	.	5.55	4.63	0.57726	.	0.426681	0.19942	N	0.102637	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-9.0271	8.0389	0.30511	0.0815:0.3095:0.6089:0.0	.	.	.	.	X	260	.	ENSP00000362849:Q260X	Q	-	1	0	CTNNA3	68649436	1.000000	0.71417	0.999000	0.59377	0.816000	0.46133	1.448000	0.35112	1.311000	0.45024	0.591000	0.81541	CAG		0.458	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2		NM_013266		5	112	0	0	0	0.000602	0	5	112		
CFAP70	118491	broad.mit.edu	37	10	75013740	75013740	+	Missense_Mutation	SNP	G	G	C	rs539894199		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:75013740G>C	ENST00000310715.3	-	28	3479	c.3359C>G	c.(3358-3360)tCt>tGt	p.S1120C	RP11-152N13.5_ENST00000457147.1_RNA|RP11-152N13.5_ENST00000394864.2_RNA|MRPS16_ENST00000416782.2_5'Flank|TTC18_ENST00000401621.2_Missense_Mutation_p.S1120C|MRPS16_ENST00000479005.1_5'Flank|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.S1090C|MRPS16_ENST00000372945.3_5'Flank|TTC18_ENST00000340329.3_Missense_Mutation_p.S360C|MRPS16_ENST00000372940.3_5'Flank|RP11-152N13.5_ENST00000457758.1_RNA|TTC18_ENST00000355577.3_Missense_Mutation_p.S589C|DNAJC9-AS1_ENST00000440197.2_RNA	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		1120						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					GTATCAGAAAGATGGATTTCC	0.458																																						uc009xrc.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(3358-3360)TCT>TGT		tetratricopeptide repeat domain 18							155.0	140.0	145.0					10																	75013740		2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75013740G>C																												ENST00000310715.3:c.3359C>G	10.37:g.75013740G>C	ENSP00000310829:p.Ser1120Cys					TTC18_uc001jty.2_Missense_Mutation_p.S1120C|MRPS16_uc010qkh.1_5'Flank|MRPS16_uc001jts.1_5'Flank|MRPS16_uc001jtt.1_5'Flank|uc001jtu.1_RNA|TTC18_uc001jtv.3_Missense_Mutation_p.S224C|TTC18_uc001jtw.3_Missense_Mutation_p.S194C|TTC18_uc001jtx.2_Missense_Mutation_p.S471C	p.S1120C	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN			28	3480	-	Prostate(51;0.0119)		1120					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.3359C>G	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	G	15.88	2.962302	0.53400	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000340329;ENST00000372928;ENST00000433268;ENST00000394865	T;T;T;T;T	0.49139	1.55;1.55;0.79;1.3;1.33	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.61640	0.2363	L	0.49350	1.555	0.45330	D	0.998325	D	0.89917	1.0	D	0.80764	0.994	T	0.59537	-0.7436	10	0.45353	T	0.12	-1.8045	13.9465	0.64089	0.0:0.0:1.0:0.0	.	1120	Q5T0N1	TTC18_HUMAN	C	1120;1120;1120;360;584;497;1090	ENSP00000310829:S1120C;ENSP00000384479:S1120C;ENSP00000343650:S360C;ENSP00000409527:S497C;ENSP00000378334:S1090C	ENSP00000310829:S1120C	S	-	2	0	TTC18	74683746	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.042000	0.64202	2.663000	0.90544	0.655000	0.94253	TCT		0.458	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding					21	83	0	0	0	0.00278	0	21	83		
GBF1	8729	broad.mit.edu	37	10	104123535	104123535	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:104123535G>A	ENST00000369983.3	+	17	2343	c.2083G>A	c.(2083-2085)Gaa>Aaa	p.E695K		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	695	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGAACTAATTGAAATTAAAAA	0.463																																						uc001kux.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2083-2085)GAA>AAA		golgi-specific brefeldin A resistant guanine							76.0	80.0	78.0					10																	104123535		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104123535G>A	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.2083G>A	10.37:g.104123535G>A	ENSP00000359000:p.Glu695Lys					GBF1_uc001kuy.1_Missense_Mutation_p.E695K|GBF1_uc001kuz.1_Missense_Mutation_p.E696K	p.E695K	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	17	2323	+		Colorectal(252;0.0236)	695			SEC7.		Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.2083G>A	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.046418	0.36085	.	.	ENSG00000107862	ENST00000369983	T	0.75477	-0.94	5.94	5.04	0.67666	SEC7-like (2);	0.238132	0.47852	D	0.000220	T	0.49592	0.1566	N	0.11651	0.15	0.37456	D	0.915002	B;B;B	0.14012	0.009;0.002;0.001	B;B;B	0.12837	0.008;0.004;0.004	T	0.47446	-0.9117	10	0.06757	T	0.87	-7.2648	8.4337	0.32773	0.1408:0.1287:0.7304:0.0	.	695;695;695	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	K	695	ENSP00000359000:E695K	ENSP00000359000:E695K	E	+	1	0	GBF1	104113525	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.422000	0.52749	1.519000	0.48950	0.561000	0.74099	GAA		0.463	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1				24	96	0	0	0	0.00333	0	24	96		
CFAP43	80217	broad.mit.edu	37	10	105912421	105912421	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:105912421C>T	ENST00000357060.3	-	28	3719	c.3604G>A	c.(3604-3606)Gaa>Aaa	p.E1202K	WDR96_ENST00000428666.1_Missense_Mutation_p.E1203K	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTCAAATGTTCATCAAAGGCC	0.353																																						uc001kxw.2		NaN																	0					0						c.(3604-3606)GAA>AAA		hypothetical protein LOC80217							131.0	131.0	131.0					10																	105912421		2202	4300	6502	SO:0001583	missense	80217							g.chr10:105912421C>T																												ENST00000357060.3:c.3604G>A	10.37:g.105912421C>T	ENSP00000349568:p.Glu1202Lys					C10orf79_uc009xxq.2_Missense_Mutation_p.E510K	p.E1202K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	28	3720	-		Colorectal(252;0.178)	1202			Potential.			Missense_Mutation	SNP	ENST00000357060.3	37	c.3604G>A	CCDS31281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.79|12.79	2.044741|2.044741	0.36085|0.36085	.|.	.|.	ENSG00000197748|ENSG00000197748	ENST00000357060;ENST00000428666|ENST00000457071;ENST00000434629	T;T|.	0.16457|.	2.37;2.34|.	5.95|5.95	5.04|5.04	0.67666|0.67666	.|.	0.346526|.	0.32918|.	N|.	0.005485|.	T|T	0.43722|0.43722	0.1260|0.1260	L|L	0.31664|0.31664	0.95|0.95	0.32167|0.32167	N|N	0.582131|0.582131	B;B|.	0.29341|.	0.079;0.242|.	B;B|.	0.36378|.	0.087;0.223|.	T|T	0.48007|0.48007	-0.9072|-0.9072	10|5	0.09843|.	T|.	0.71|.	.|.	12.7169|12.7169	0.57119|0.57119	0.0:0.9214:0.0:0.0786|0.0:0.9214:0.0:0.0786	.|.	1203;1202|.	G5E9L1;Q8NDM7|.	.;WDR96_HUMAN|.	K|I	1202;1203|50;562	ENSP00000349568:E1202K;ENSP00000400289:E1203K|.	ENSP00000349568:E1202K|.	E|M	-|-	1|3	0|0	WDR96|WDR96	105902411|105902411	0.999000|0.999000	0.42202|0.42202	0.897000|0.897000	0.35233|0.35233	0.326000|0.326000	0.28443|0.28443	2.693000|2.693000	0.47027|0.47027	2.826000|2.826000	0.97356|0.97356	0.563000|0.563000	0.77884|0.77884	GAA|ATG		0.353	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					5	40	0	0	0	0.001168	0	5	40		
TDRD1	56165	broad.mit.edu	37	10	115962010	115962010	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:115962010G>A	ENST00000369280.1	+	6	1109	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	TDRD1_ENST00000251864.2_Missense_Mutation_p.E217K|TDRD1_ENST00000369282.1_Missense_Mutation_p.E217K|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369281.2_Missense_Mutation_p.E217K			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	217					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CCACAAACTTGAAAATAAATC	0.299																																						uc001lbg.1		NaN																	0					0						c.(649-651)GAA>AAA		tudor domain containing 1							89.0	95.0	93.0					10																	115962010		2202	4299	6501	SO:0001583	missense	56165				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	g.chr10:115962010G>A	AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.649G>A	10.37:g.115962010G>A	ENSP00000358286:p.Glu217Lys					TDRD1_uc001lbf.2_Missense_Mutation_p.E208K|TDRD1_uc001lbh.1_Missense_Mutation_p.E208K|TDRD1_uc001lbi.1_Missense_Mutation_p.E208K|TDRD1_uc010qsc.1_5'Flank|TDRD1_uc001lbj.2_5'Flank	p.E217K	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.0754)	6	802	+		Colorectal(252;0.172)|Breast(234;0.188)	217					A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	ENST00000369280.1	37	c.649G>A		.	.	.	.	.	.	.	.	.	.	G	13.39	2.221429	0.39300	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000369280	T;T;T;T	0.19669	3.03;3.02;2.13;3.04	5.83	4.91	0.64330	.	1.077470	0.07059	N	0.833448	T	0.26048	0.0635	L	0.58101	1.795	0.80722	D	1	B;B;B;B	0.33694	0.297;0.189;0.421;0.05	B;B;B;B	0.33750	0.081;0.044;0.169;0.039	T	0.02431	-1.1160	10	0.23302	T	0.38	-22.2265	12.7752	0.57443	0.0:0.1645:0.8355:0.0	.	217;217;217;217	Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	TDRD1_HUMAN;.;.;.	K	217	ENSP00000358288:E217K;ENSP00000251864:E217K;ENSP00000358287:E217K;ENSP00000358286:E217K	ENSP00000251864:E217K	E	+	1	0	TDRD1	115952000	1.000000	0.71417	0.996000	0.52242	0.682000	0.39822	2.896000	0.48656	1.444000	0.47605	0.585000	0.79938	GAA		0.299	TDRD1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050457.2				11	23	0	0	0	0.008291	0	11	23		
FOXI2	399823	broad.mit.edu	37	10	129536033	129536033	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:129536033G>A	ENST00000388920.4	+	1	535	c.496G>A	c.(496-498)Gac>Aac	p.D166N		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	166					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				GGTGCCCCGCGACGAGGACGA	0.667																																					Esophageal Squamous(54;1038 1280 2528 31583)	uc009yas.2		NaN																	0					0						c.(496-498)GAC>AAC		forkhead box I2							36.0	37.0	37.0					10																	129536033		692	1591	2283	SO:0001583	missense	399823				epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr10:129536033G>A	AK128865	CCDS7655.2	10q26.2	2008-04-10			ENSG00000186766	ENSG00000186766		"""Forkhead boxes"""	32448	protein-coding gene	gene with protein product							Standard	NM_207426		Approved	FLJ46831	uc009yas.2	Q6ZQN5	OTTHUMG00000019250	ENST00000388920.4:c.496G>A	10.37:g.129536033G>A	ENSP00000373572:p.Asp166Asn					uc009yar.1_5'Flank	p.D166N	NM_207426	NP_997309	Q6ZQN5	FOXI2_HUMAN			1	496	+		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)	166			Fork-head.			Missense_Mutation	SNP	ENST00000388920.4	37	c.496G>A	CCDS7655.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084743	0.76642	.	.	ENSG00000186766	ENST00000388920	D	0.95482	-3.72	4.27	3.37	0.38596	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.183338	0.44902	D	0.000401	D	0.93789	0.8014	N	0.11845	0.185	0.80722	D	1	D	0.89917	1.0	D	0.68483	0.958	D	0.93609	0.6937	10	0.66056	D	0.02	.	10.8229	0.46614	0.0935:0.0:0.9065:0.0	.	166	Q6ZQN5	FOXI2_HUMAN	N	166	ENSP00000373572:D166N	ENSP00000373572:D166N	D	+	1	0	FOXI2	129426023	1.000000	0.71417	0.990000	0.47175	0.949000	0.60115	5.127000	0.64727	1.012000	0.39366	0.561000	0.74099	GAC		0.667	FOXI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050984.2		NM_207426		4	19	0	0	0	0.009096	0	4	19		
PPP2R2D	55844	broad.mit.edu	37	10	133769275	133769275	+	3'UTR	SNP	G	G	C	rs201895841		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:133769275G>C	ENST00000470416.1	+	0	660				PPP2R2D_ENST00000422256.2_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta						exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		CCTCGAGAGAGAGCAGCAAAC	0.547													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17432	0.0		0.0	False		,,,				2504	0.0					uc001lks.2		NaN																	0				skin(1)	1						c.(1069-1071)GAG>GAC		protein phosphatase 2, regulatory subunit B,		G	ASP/GLU	0,4326		0,0,2163	51.0	59.0	56.0		1072	3.0	1.0	10		56	3,8549		0,3,4273	yes	missense	PPP2R2D	NM_018461.3	45	0,3,6436	CC,CG,GG		0.0351,0.0,0.0233	benign	390/454	133769275	3,12875	2163	4276	6439	SO:0001624	3_prime_UTR_variant	55844				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr10:133769275G>C	AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000470416.1:c.*657G>C	10.37:g.133769275G>C						PPP2R2D_uc001lkr.2_Missense_Mutation_p.E163D|PPP2R2D_uc001lkt.2_Missense_Mutation_p.E163D|PPP2R2D_uc009yay.2_Missense_Mutation_p.E225D	p.E357D	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)	7	1314	+		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)	390					A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP	ENST00000470416.1	37	c.1071G>C		.	.	.	.	.	.	.	.	.	.	G	9.392	1.075797	0.20227	0.0	3.51E-4	ENSG00000175470	ENST00000455566	T	0.31769	1.48	3.9	2.99	0.34606	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.19886	0.0478	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.05435	-1.0885	9	0.21014	T	0.42	-9.8294	12.3771	0.55285	0.0878:0.0:0.9122:0.0	.	390	Q66LE6	2ABD_HUMAN	D	359	ENSP00000399970:E359D	ENSP00000399970:E359D	E	+	3	2	PPP2R2D	133619265	1.000000	0.71417	0.992000	0.48379	0.055000	0.15305	1.050000	0.30404	2.189000	0.69895	0.655000	0.94253	GAG		0.547	PPP2R2D-005	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000051038.1		NM_018461		19	46	0	0	0	0.007413	0	19	46		
OR51M1	390059	broad.mit.edu	37	11	5411026	5411026	+	Missense_Mutation	SNP	A	A	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:5411026A>T	ENST00000328611.3	+	1	420	c.398A>T	c.(397-399)gAc>gTc	p.D133V	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	133					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)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGTCCTTTGACCGCCTTGTG	0.507																																						uc010qzc.1		NaN																	0					0						c.(397-399)GAC>GTC		olfactory receptor, family 51, subfamily M,							222.0	213.0	216.0					11																	5411026		2065	4242	6307	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5411026A>T	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.398A>T	11.37:g.5411026A>T	ENSP00000333196:p.Asp133Val					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.D133V	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	398	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	133					Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	c.398A>T	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.216041	0.58452	.	.	ENSG00000184698	ENST00000328611	T	0.57273	0.41	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.220262	0.22381	U	0.060810	D	0.84174	0.5414	H	0.99487	4.59	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.90460	0.4445	10	0.87932	D	0	.	13.7653	0.62990	1.0:0.0:0.0:0.0	.	122	Q9H341	O51M1_HUMAN	V	133	ENSP00000333196:D133V	ENSP00000333196:D133V	D	+	2	0	OR51M1	5367602	1.000000	0.71417	0.994000	0.49952	0.197000	0.23852	8.431000	0.90285	2.121000	0.65114	0.533000	0.62120	GAC		0.507	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1		NM_001004756		4	69	0	0	0	0.009096	0	4	69		
RAG2	5897	broad.mit.edu	37	11	36614207	36614207	+	Silent	SNP	G	G	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:36614207G>T	ENST00000311485.3	-	2	1673	c.1512C>A	c.(1510-1512)tcC>tcA	p.S504S	RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000334307.5_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000347206.4_5'Flank|C11orf74_ENST00000534635.1_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	504					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTTTACGGAGGGATTTCATTG	0.413									Familial Hemophagocytic Lymphohistiocytosis																													uc001mwv.3		NaN																	0				skin(3)|ovary(1)|pancreas(1)	5						c.(1510-1512)TCC>TCA		recombination activating gene 2							66.0	72.0	70.0					11																	36614207		2202	4298	6500	SO:0001819	synonymous_variant	5897	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36614207G>T	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.1512C>A	11.37:g.36614207G>T						RAG1_uc001mwt.2_Intron|C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	p.S504S	NM_000536	NP_000527	P55895	RAG2_HUMAN			2	1700	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	504					A8K9E9|Q8TBL4	Silent	SNP	ENST00000311485.3	37	c.1512C>A	CCDS7903.1																																																																																				0.413	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1		NM_000536		18	44	1	0	8.28177e-16	0.007413	9.10561e-16	18	44		
FNBP4	23360	broad.mit.edu	37	11	47741610	47741610	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:47741610G>C	ENST00000263773.5	-	16	2846	c.2834C>G	c.(2833-2835)tCt>tGt	p.S945C		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	945						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TTTTACCAAAGATGGCATTTT	0.398																																						uc009ylv.2		NaN																	0				ovary(1)	1						c.(2833-2835)TCT>TGT		formin binding protein 4							78.0	68.0	71.0					11																	47741610		1865	4111	5976	SO:0001583	missense	23360							g.chr11:47741610G>C	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2834C>G	11.37:g.47741610G>C	ENSP00000263773:p.Ser945Cys					FNBP4_uc001ngi.2_Missense_Mutation_p.S259C|FNBP4_uc001ngj.2_Missense_Mutation_p.S852C	p.S945C	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN			16	2987	-			945					Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.2834C>G	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704654	0.88924	.	.	ENSG00000109920	ENST00000263773	T	0.59083	0.29	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.75170	0.3813	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.76672	-0.2873	10	0.72032	D	0.01	-14.7106	19.4718	0.94966	0.0:0.0:1.0:0.0	.	945	Q8N3X1	FNBP4_HUMAN	C	945	ENSP00000263773:S945C	ENSP00000263773:S945C	S	-	2	0	FNBP4	47698186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.607000	0.82883	2.592000	0.87571	0.650000	0.86243	TCT		0.398	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3				11	24	0	0	0	0.013537	0	11	24		
OR5D18	219438	broad.mit.edu	37	11	55587183	55587183	+	Silent	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:55587183C>G	ENST00000333976.4	+	1	98	c.78C>G	c.(76-78)gtC>gtG	p.V26V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AACTGCAAGTCCCACTCTTCC	0.463																																						uc010rin.1		NaN																	0				skin(2)|ovary(1)	3						c.(76-78)GTC>GTG		olfactory receptor, family 5, subfamily D,							135.0	125.0	128.0					11																	55587183		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587183C>G	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.78C>G	11.37:g.55587183C>G							p.V26V	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	78	+		all_epithelial(135;0.208)	26			Extracellular (Potential).		Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.78C>G	CCDS31510.1																																																																																				0.463	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1		NM_001001952		8	30	0	0	0	0.004482	0	8	30		
OR8K3	219473	broad.mit.edu	37	11	56085825	56085825	+	Missense_Mutation	SNP	A	A	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:56085825A>T	ENST00000312711.1	+	1	43	c.43A>T	c.(43-45)Acg>Tcg	p.T15S		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	15						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(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATTCATTCTTACGGGAATCAC	0.418																																						uc010rjf.1		NaN																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(43-45)ACG>TCG		olfactory receptor, family 8, subfamily K,							148.0	134.0	139.0					11																	56085825		2201	4295	6496	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56085825A>T	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.43A>T	11.37:g.56085825A>T	ENSP00000323555:p.Thr15Ser						p.T15S	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			1	43	+	Esophageal squamous(21;0.00448)		15			Extracellular (Potential).		Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.43A>T	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	A	5.565	0.289142	0.10513	.	.	ENSG00000181689	ENST00000312711	T	0.00433	7.43	4.84	-5.88	0.02290	.	1.071090	0.07145	N	0.848012	T	0.00210	0.0006	N	0.12920	0.275	0.09310	N	1	B	0.22604	0.072	B	0.20184	0.028	T	0.33929	-0.9849	10	0.52906	T	0.07	.	9.332	0.38027	0.1978:0.5784:0.2238:0.0	.	15	Q8NH51	OR8K3_HUMAN	S	15	ENSP00000323555:T15S	ENSP00000323555:T15S	T	+	1	0	OR8K3	55842401	0.000000	0.05858	0.041000	0.18516	0.009000	0.06853	-2.531000	0.00943	-0.942000	0.03695	-1.249000	0.01516	ACG		0.418	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1		NM_001005202		3	40	0	0	0	0.004672	0	3	40		
C11orf84	144097	broad.mit.edu	37	11	63585488	63585488	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:63585488G>C	ENST00000294244.4	+	2	638	c.339G>C	c.(337-339)caG>caC	p.Q113H		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	113										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						TCTTGGAGCAGCACCCTCACA	0.642																																						uc001nxt.2		NaN																	0					0						c.(337-339)CAG>CAC		hypothetical protein LOC144097							80.0	79.0	79.0					11																	63585488		2201	4298	6499	SO:0001583	missense	144097							g.chr11:63585488G>C	BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.339G>C	11.37:g.63585488G>C	ENSP00000294244:p.Gln113His						p.Q113H	NM_138471	NP_612480	Q9BUA3	CK084_HUMAN			2	575	+			113					Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	ENST00000294244.4	37	c.339G>C	CCDS31594.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461017	0.63513	.	.	ENSG00000168005	ENST00000294244	T	0.48836	0.8	5.48	4.57	0.56435	.	0.269330	0.30969	N	0.008514	T	0.61035	0.2315	L	0.56769	1.78	0.36795	D	0.885061	D	0.69078	0.997	D	0.79108	0.992	T	0.67898	-0.5551	10	0.87932	D	0	-21.8534	9.2207	0.37375	0.0963:0.0:0.9037:0.0	.	113	Q9BUA3	CK084_HUMAN	H	113	ENSP00000294244:Q113H	ENSP00000294244:Q113H	Q	+	3	2	C11orf84	63342064	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	1.679000	0.37597	2.584000	0.87258	0.561000	0.74099	CAG		0.642	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1		NM_138471		10	51	0	0	0	0.008291	0	10	51		
PPP1CA	5499	broad.mit.edu	37	11	67168200	67168200	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:67168200C>G	ENST00000376745.4	-	3	526	c.378G>C	c.(376-378)gaG>gaC	p.E126D	PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000358239.4_Missense_Mutation_p.E82D|PPP1CA_ENST00000312989.7_Missense_Mutation_p.E137D	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	126					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TGCTGGCACACTCGTGGTTCC	0.562																																						uc001okw.1		NaN																	0				breast(1)|pancreas(1)	2						c.(376-378)GAG>GAC		protein phosphatase 1, catalytic subunit, alpha							112.0	101.0	105.0					11																	67168200		2200	4295	6495	SO:0001583	missense	5499				cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity	g.chr11:67168200C>G		CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9281	protein-coding gene	gene with protein product		176875	"""protein phosphatase 1, catalytic subunit, alpha isoform"""	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.378G>C	11.37:g.67168200C>G	ENSP00000365936:p.Glu126Asp					PPP1CA_uc009yro.1_5'UTR|PPP1CA_uc001okt.1_Missense_Mutation_p.E131D|PPP1CA_uc001oku.1_Missense_Mutation_p.E137D|PPP1CA_uc001okv.1_Missense_Mutation_p.E82D|PPP1CA_uc001okx.1_Missense_Mutation_p.E214D|PPP1CA_uc001oky.2_Missense_Mutation_p.E126D	p.E126D	NM_002708	NP_002699	P62136	PP1A_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.53e-07)		3	501	-			126					A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Missense_Mutation	SNP	ENST00000376745.4	37	c.378G>C	CCDS8160.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449227	0.63178	.	.	ENSG00000172531	ENST00000312989;ENST00000451458;ENST00000376745;ENST00000358239;ENST00000527663	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	5.08	2.13	0.27403	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (3);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.59595	0.2205	H	0.99993	5.375	0.46774	D	0.999192	D;D;D;D;D;B	0.89917	1.0;1.0;1.0;1.0;0.998;0.164	D;D;D;D;D;B	0.97110	0.995;0.995;1.0;0.996;1.0;0.404	T	0.66822	-0.5826	10	0.87932	D	0	.	8.2388	0.31645	0.0:0.6496:0.0:0.3504	.	223;223;126;82;137;135	B3KXM2;E9PDP1;P62136;A6NNR3;Q07161;F8W0W8	.;.;PP1A_HUMAN;.;.;.	D	137;223;126;82;126	ENSP00000326031:E137D;ENSP00000365936:E126D;ENSP00000350974:E82D;ENSP00000431146:E126D	ENSP00000326031:E137D	E	-	3	2	PPP1CA	66924776	0.997000	0.39634	0.998000	0.56505	0.412000	0.31113	0.552000	0.23376	0.149000	0.19098	-0.251000	0.11542	GAG		0.562	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395487.1		NM_002708		17	81	0	0	0	0.00499	0	17	81		
RNF169	254225	broad.mit.edu	37	11	74556166	74556166	+	IGR	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:74556166C>A	ENST00000299563.4	+	0	7823				RN7SL239P_ENST00000490061.2_RNA|XRRA1_ENST00000340360.6_Nonsense_Mutation_p.E619*|XRRA1_ENST00000321448.8_Nonsense_Mutation_p.E344*|XRRA1_ENST00000527087.1_Nonsense_Mutation_p.E532*	NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169						cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						AGCAGTTCTTCATAGCCGTGG	0.537																																						uc009yub.2		NaN																	0				central_nervous_system(1)	1						c.(1855-1857)GAA>TAA		X-ray radiation resistance associated 1							151.0	158.0	156.0					11																	74556166		1974	4164	6138	SO:0001628	intergenic_variant	143570				response to X-ray	cytoplasm|nucleus		g.chr11:74556166C>A	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516		11.37:g.74556166C>A						XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovn.2_Nonsense_Mutation_p.E242*|XRRA1_uc001ovo.2_Nonsense_Mutation_p.E227*|XRRA1_uc001ovq.3_Nonsense_Mutation_p.E532*|XRRA1_uc001ovp.3_Nonsense_Mutation_p.E344*|XRRA1_uc001ovr.2_Nonsense_Mutation_p.E242*|XRRA1_uc001ovs.1_Nonsense_Mutation_p.E221*	p.E619*	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN			16	2187	-			619					Q6N015	Nonsense_Mutation	SNP	ENST00000299563.4	37	c.1855G>T	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	C	47	13.045508	0.99715	.	.	ENSG00000166435	ENST00000340360;ENST00000321448;ENST00000344880;ENST00000398418;ENST00000527087	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-34.0757	17.2626	0.87075	0.0:1.0:0.0:0.0	.	.	.	.	X	619;344;605;563;532	.	ENSP00000319303:E344X	E	-	1	0	XRRA1	74233814	0.999000	0.42202	1.000000	0.80357	0.983000	0.72400	4.284000	0.58983	2.941000	0.99782	0.655000	0.94253	GAA		0.537	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1		XM_495886		41	105	1	0	2.01872e-29	0.01441	2.25495e-29	41	105		
DDIAS	220042	broad.mit.edu	37	11	82642952	82642952	+	Missense_Mutation	SNP	G	G	A	rs143776868	byFrequency	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:82642952G>A	ENST00000533655.1	+	6	784	c.572G>A	c.(571-573)aGg>aAg	p.R191K	C11orf82_ENST00000525388.1_3'UTR|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000533750.1_3'UTR|C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.R191K|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	DDIAS_HUMAN		191					apoptotic process (GO:0006915)|cellular response to cytokine stimulus (GO:0071345)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to hydroperoxide (GO:0071447)|cellular response to UV (GO:0034644)|hemopoiesis (GO:0030097)|mitotic cell cycle arrest (GO:0071850)|negative regulation of fibroblast apoptotic process (GO:2000270)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TTTAATTTCAGGAAACTTCAG	0.408													G|||	22	0.00439297	0.0008	0.0014	5008	,	,		18805	0.0		0.002	False		,,,				2504	0.0184					uc001ozt.2		NaN																	0				ovary(2)	2						c.(571-573)AGG>AAG		nitric oxide-inducible gene protein		G	LYS/ARG	1,4405	2.1+/-5.4	0,1,2202	155.0	160.0	158.0		572	-1.5	0.0	11	dbSNP_134	158	24,8576	17.3+/-56.4	1,22,4277	yes	missense	C11orf82	NM_145018.3	26	1,23,6479	AA,AG,GG		0.2791,0.0227,0.1922	benign	191/999	82642952	25,12981	2203	4300	6503	SO:0001583	missense	220042				apoptosis|cell cycle arrest	cytoplasm|nucleus		g.chr11:82642952G>A																												ENST00000533655.1:c.572G>A	11.37:g.82642952G>A	ENSP00000435421:p.Arg191Lys					C11orf82_uc010rsr.1_5'UTR|C11orf82_uc010rss.1_5'UTR|C11orf82_uc009yvd.2_Intron	p.R191K	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN			6	816	+			191					Q96LK6|Q9H856	Missense_Mutation	SNP	ENST00000533655.1	37	c.572G>A	CCDS8263.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	6.736	0.504505	0.12822	2.27E-4	0.002791	ENSG00000165490	ENST00000430323;ENST00000533655	T;T	0.14640	2.49;2.49	5.15	-1.55	0.08558	.	0.521773	0.21012	N	0.081662	T	0.09686	0.0238	L	0.50333	1.59	0.19775	N	0.999954	B	0.21071	0.051	B	0.14023	0.01	T	0.27157	-1.0082	9	.	.	.	.	5.3499	0.16030	0.3495:0.0:0.5265:0.124	.	191	Q8IXT1	NOXIN_HUMAN	K	191	ENSP00000414687:R191K;ENSP00000435421:R191K	.	R	+	2	0	C11orf82	82320600	0.024000	0.19004	0.032000	0.17829	0.699000	0.40488	0.116000	0.15561	-0.501000	0.06605	0.563000	0.77884	AGG		0.408	C11orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391936.1				4	87	0	0	0	0.000602	0	4	87		
C11orf63	79864	broad.mit.edu	37	11	122795698	122795698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr11:122795698C>T	ENST00000531316.1	+	3	1050	c.958C>T	c.(958-960)Caa>Taa	p.Q320*	C11orf63_ENST00000227349.2_Nonsense_Mutation_p.Q320*|RNU4-23P_ENST00000362839.1_RNA			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	320					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TAAATGGCATCAAAGAGCACA	0.408																																						uc001pym.2		NaN																	0				ovary(3)	3						c.(958-960)CAA>TAA		hypothetical protein LOC79864 isoform 1							157.0	132.0	140.0					11																	122795698		2202	4299	6501	SO:0001587	stop_gained	79864							g.chr11:122795698C>T	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.958C>T	11.37:g.122795698C>T	ENSP00000431669:p.Gln320*						p.Q320*	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	4	1255	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	320					A8K6G0|Q96GB5|Q9H5D6	Nonsense_Mutation	SNP	ENST00000531316.1	37	c.958C>T	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	C	38	6.738098	0.97801	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	.	.	.	5.98	5.06	0.68205	.	0.234538	0.30338	N	0.009844	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-9.4882	13.63	0.62189	0.1552:0.8448:0.0:0.0	.	.	.	.	X	320	.	ENSP00000227349:Q320X	Q	+	1	0	C11orf63	122300908	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.065000	0.49994	1.514000	0.48869	0.563000	0.77884	CAA		0.408	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1		NM_024806		26	8	0	0	0	0.004656	0	26	8		
VWF	7450	broad.mit.edu	37	12	6161750	6161750	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:6161750G>C	ENST00000261405.5	-	16	2399	c.2145C>G	c.(2143-2145)atC>atG	p.I715M		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	715					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGGCTGGAAGATCTCACCGT	0.587																																						uc001qnn.1		NaN																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(2143-2145)ATC>ATG		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						162.0	146.0	152.0					12																	6161750		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6161750G>C		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2145C>G	12.37:g.6161750G>C	ENSP00000261405:p.Ile715Met					VWF_uc010set.1_Intron	p.I715M	NM_000552	NP_000543	P04275	VWF_HUMAN			16	2395	-			715					Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.2145C>G	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.069330	0.55539	.	.	ENSG00000110799	ENST00000261405	T	0.65916	-0.18	4.77	4.77	0.60923	.	0.370159	0.19639	N	0.109488	T	0.60702	0.2289	M	0.74258	2.255	0.80722	D	1	P	0.43477	0.808	B	0.39876	0.312	T	0.64588	-0.6372	10	0.45353	T	0.12	.	10.5482	0.45072	0.0875:0.0:0.9125:0.0	.	715	P04275	VWF_HUMAN	M	715	ENSP00000261405:I715M	ENSP00000261405:I715M	I	-	3	3	VWF	6032011	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	2.954000	0.49113	2.471000	0.83476	0.555000	0.69702	ATC		0.587	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1		NM_000552		109	133	0	0	0	0.01441	0	109	133		
CDCA3	83461	broad.mit.edu	37	12	6958994	6958994	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:6958994C>T	ENST00000538862.2	-	4	1180	c.279G>A	c.(277-279)ctG>ctA	p.L93L	CDCA3_ENST00000604599.1_5'Flank|CDCA3_ENST00000535406.1_Silent_p.L93L|CDCA3_ENST00000422785.3_Silent_p.L93L|CDCA3_ENST00000229265.6_Intron|USP5_ENST00000229268.8_5'Flank|CDCA3_ENST00000540683.1_Silent_p.L93L|USP5_ENST00000389231.5_5'Flank			Q99618	CDCA3_HUMAN	cell division cycle associated 3	93	F-box-like.				mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						ATACTTCACTCAGCTGTTTCA	0.463																																						uc001qrg.2		NaN																	0					0						c.(277-279)CTG>CTA		cell division cycle associated 3							69.0	78.0	75.0					12																	6958994		2200	4299	6499	SO:0001819	synonymous_variant	83461				cell division|mitosis	cytosol		g.chr12:6958994C>T	BG354576	CCDS8565.1, CCDS73428.1	12p13.31	2010-07-20				ENSG00000111665			14624	protein-coding gene	gene with protein product	"""trigger of mitotic entry 1"""	607749				9074930, 12188893	Standard	XR_242988		Approved	TOME-1, GRCC8	uc001qrg.2	Q99618		ENST00000538862.2:c.279G>A	12.37:g.6958994C>T						CDCA3_uc001qre.2_Silent_p.L93L|uc001qrf.1_5'Flank|USP5_uc001qri.3_5'Flank|USP5_uc001qrh.3_5'Flank	p.L93L	NM_031299	NP_112589	Q99618	CDCA3_HUMAN			4	407	-			93			F-box-like.		A8K5V6|D3DUS6	Silent	SNP	ENST00000538862.2	37	c.279G>A	CCDS8565.1																																																																																				0.463	CDCA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401940.2		NM_031299		23	119	0	0	0	0.014323	0	23	119		
C1S	716	broad.mit.edu	37	12	7177163	7177163	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:7177163T>A	ENST00000406697.1	+	15	1903	c.1275T>A	c.(1273-1275)tgT>tgA	p.C425*	C1S_ENST00000360817.5_Nonsense_Mutation_p.C425*|C1S_ENST00000402681.3_Nonsense_Mutation_p.C258*|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000328916.3_Nonsense_Mutation_p.C425*			P09871	C1S_HUMAN	complement component 1, s subcomponent	425					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCCTAGTCTGTGGAGTCCCCA	0.443																																					GBM(156;750 1943 12971 24779 31015)	uc001qsj.2		NaN																	0				skin(1)	1						c.(1273-1275)TGT>TGA		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						79.0	83.0	82.0					12																	7177163		2203	4300	6503	SO:0001587	stop_gained	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7177163T>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1275T>A	12.37:g.7177163T>A	ENSP00000385035:p.Cys425*					C1S_uc001qsk.2_Nonsense_Mutation_p.C425*|C1S_uc001qsl.2_Nonsense_Mutation_p.C425*|C1S_uc009zfr.2_Nonsense_Mutation_p.C258*|C1S_uc009zfs.2_RNA	p.C425*	NM_201442	NP_958850	P09871	C1S_HUMAN			15	1994	+			425					D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Nonsense_Mutation	SNP	ENST00000406697.1	37	c.1275T>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	T	42	9.238446	0.99110	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	.	.	.	4.78	3.58	0.41010	.	0.000000	0.46145	D	0.000305	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2265	0.37410	0.0:0.0964:0.0:0.9035	.	.	.	.	X	425;425;425;419;258	.	ENSP00000328173:C425X	C	+	3	2	C1S	7047424	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.495000	0.45337	0.779000	0.33543	0.379000	0.24179	TGT		0.443	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1		NM_001734		22	128	0	0	0	0.00278	0	22	128		
YBX3	8531	broad.mit.edu	37	12	10854593	10854593	+	Missense_Mutation	SNP	C	C	T	rs184471157		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:10854593C>T	ENST00000228251.4	-	8	1219	c.1019G>A	c.(1018-1020)cGt>cAt	p.R340H	YBX3_ENST00000546164.1_5'UTR|YBX3_ENST00000279550.7_Missense_Mutation_p.R271H	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	340					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)										GTTAGGAGGACGCGGGCGACG	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		16175	0.001		0.0	False		,,,				2504	0.0					uc001qyt.2		NaN																	0				ovary(2)|lung(1)|large_intestine(1)	4						c.(1018-1020)CGT>CAT		cold shock domain protein A isoform a							202.0	194.0	197.0					12																	10854593		2203	4300	6503	SO:0001583	missense	8531				negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:10854593C>T	L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.1019G>A	12.37:g.10854593C>T	ENSP00000228251:p.Arg340His					CSDA_uc001qyu.2_Missense_Mutation_p.R271H	p.R340H	NM_003651	NP_003642	P16989	DBPA_HUMAN			8	1262	-	Glioma(1;0.155)		340					B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	ENST00000228251.4	37	c.1019G>A	CCDS8630.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	21.1	4.091039	0.76756	.	.	ENSG00000060138	ENST00000279550;ENST00000228251	T;T	0.28895	1.72;1.59	4.78	4.78	0.61160	.	0.235872	0.37955	N	0.001862	T	0.50769	0.1635	M	0.73217	2.22	0.40465	D	0.980287	D;D	0.89917	0.998;1.0	P;D	0.80764	0.865;0.994	T	0.55166	-0.8183	10	0.72032	D	0.01	.	9.0187	0.36186	0.0:0.8977:0.0:0.1023	.	271;340	P16989-2;P16989	.;DBPA_HUMAN	H	271;340	ENSP00000279550:R271H;ENSP00000228251:R340H	ENSP00000228251:R340H	R	-	2	0	CSDA	10745860	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	3.328000	0.52052	2.185000	0.69588	0.655000	0.94253	CGT		0.517	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1		NM_003651		111	194	0	0	0	0.01441	0	111	194		
KIAA1551	55196	broad.mit.edu	37	12	32136551	32136551	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:32136551G>C	ENST00000312561.4	+	4	3076	c.2662G>C	c.(2662-2664)Gat>Cat	p.D888H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	888																	TGTGAGTAGTGATACATTACA	0.373																																						uc001rks.2		NaN																	0				ovary(1)|skin(1)	2						c.(2662-2664)GAT>CAT		hypothetical protein LOC55196							107.0	101.0	103.0					12																	32136551		2203	4300	6503	SO:0001583	missense	55196							g.chr12:32136551G>C	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.2662G>C	12.37:g.32136551G>C	ENSP00000310338:p.Asp888His						p.D888H	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	3076	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		888					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.2662G>C	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173082	0.78452	.	.	ENSG00000174718	ENST00000312561	T	0.16597	2.33	5.25	3.39	0.38822	.	0.685011	0.13725	N	0.367093	T	0.34308	0.0893	L	0.60455	1.87	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.07443	-1.0772	9	.	.	.	.	8.4563	0.32901	0.0833:0.1612:0.7555:0.0	.	888	Q9HCM1	CL035_HUMAN	H	888	ENSP00000310338:D888H	.	D	+	1	0	C12orf35	32027818	0.000000	0.05858	0.001000	0.08648	0.899000	0.52679	0.591000	0.23969	0.582000	0.29556	0.655000	0.94253	GAT		0.373	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2		NM_018169		40	56	0	0	0	0.00623	0	40	56		
PKP2	5318	broad.mit.edu	37	12	32955491	32955491	+	Splice_Site	SNP	C	C	A	rs193922674		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:32955491C>A	ENST00000070846.6	-	11	2170		c.e11-1		PKP2_ENST00000340811.4_Splice_Site	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2						adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ATGTCGGCATCTGTTTTGTGA	0.408																																						uc001rlj.3		NaN																	0				ovary(1)|pancreas(1)	2	GRCh37	CS043144	PKP2	S		c.e11-1		plakophilin 2 isoform 2b							105.0	96.0	99.0					12																	32955491		2203	4300	6503	SO:0001630	splice_region_variant	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:32955491C>A	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.2146-1G>T	12.37:g.32955491C>A						PKP2_uc001rlk.3_Splice_Site_p.M672_splice|PKP2_uc010skj.1_Splice_Site_p.M669_splice	p.M716_splice	NM_004572	NP_004563	Q99959	PKP2_HUMAN			11	2261	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)							A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Splice_Site	SNP	ENST00000070846.6	37	c.2146_splice	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857721	0.71834	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7253	0.88363	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PKP2	32846758	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.137000	0.64789	2.339000	0.79563	0.643000	0.83706	.		0.408	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1		NM_004572	Intron	12	89	1	0	8.60227e-14	0.004007	9.40874e-14	12	89		
TMBIM6	7009	broad.mit.edu	37	12	50149478	50149478	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:50149478C>T	ENST00000267115.5	+	4	311	c.226C>T	c.(226-228)Cat>Tat	p.H76Y	TMBIM6_ENST00000395006.4_Missense_Mutation_p.H76Y|TMBIM6_ENST00000552699.1_Missense_Mutation_p.H134Y|TMBIM6_ENST00000423828.1_Missense_Mutation_p.H134Y|TMBIM6_ENST00000547798.1_Missense_Mutation_p.H39Y|TMBIM6_ENST00000549385.1_Missense_Mutation_p.H76Y	NM_003217.2	NP_003208.2	P55061	BI1_HUMAN	transmembrane BAX inhibitor motif containing 6	76					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						GGCAACACCTCATAGCCATGA	0.433																																						uc001rux.2		NaN																	0					0						c.(226-228)CAT>TAT		testis enhanced gene transcript (BAX inhibitor							195.0	193.0	194.0					12																	50149478		2203	4300	6503	SO:0001583	missense	7009				apoptosis|negative regulation of apoptosis	endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus		g.chr12:50149478C>T	X75861	CCDS31797.1, CCDS44875.1	12q13.12	2013-10-08	2008-09-17	2008-09-17	ENSG00000139644	ENSG00000139644			11723	protein-coding gene	gene with protein product	"""BAX inhibitor 1"""	600748	"""testis enhanced gene transcript"""	TEGT		8530040, 9660918	Standard	NM_001098576		Approved	BI-1, BAXI1	uc001ruy.2	P55061	OTTHUMG00000169652	ENST00000267115.5:c.226C>T	12.37:g.50149478C>T	ENSP00000267115:p.His76Tyr					TMBIM6_uc010sml.1_Missense_Mutation_p.H76Y|TMBIM6_uc001ruy.2_Missense_Mutation_p.H134Y|TMBIM6_uc001ruz.2_Missense_Mutation_p.H76Y	p.H76Y	NM_003217	NP_003208	P55061	BI1_HUMAN			4	358	+			76					B2R5M4|F8W034|O14938|Q643A7|Q96J50	Missense_Mutation	SNP	ENST00000267115.5	37	c.226C>T	CCDS31797.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440073	0.43326	.	.	ENSG00000139644	ENST00000546796;ENST00000549966;ENST00000547832;ENST00000547187;ENST00000546914;ENST00000552699;ENST00000267115;ENST00000541612;ENST00000549445;ENST00000549385;ENST00000548201;ENST00000423828;ENST00000542631;ENST00000550445;ENST00000549130;ENST00000552370;ENST00000395006;ENST00000547798	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.62998	0.2474	M	0.66506	2.035	0.58432	D	0.999999	D;P;D	0.89917	1.0;0.82;1.0	D;B;D	0.87578	0.998;0.259;0.99	T	0.53180	-0.8475	10	0.22706	T	0.39	.	18.6545	0.91445	0.0:1.0:0.0:0.0	.	76;134;76	B7Z984;F8W034;P55061	.;.;BI1_HUMAN	Y	76;76;76;76;76;134;76;76;76;76;76;134;76;76;76;76;76;39	ENSP00000450159:H76Y;ENSP00000446668:H76Y;ENSP00000448269:H76Y;ENSP00000447400:H76Y;ENSP00000448612:H76Y;ENSP00000446734:H134Y;ENSP00000267115:H76Y;ENSP00000449904:H76Y;ENSP00000448036:H76Y;ENSP00000450265:H76Y;ENSP00000389277:H134Y;ENSP00000449907:H76Y;ENSP00000450158:H76Y;ENSP00000378454:H76Y;ENSP00000447030:H39Y	ENSP00000267115:H76Y	H	+	1	0	TMBIM6	48435745	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.855000	0.75445	2.941000	0.99782	0.655000	0.94253	CAT		0.433	TMBIM6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405289.1		NM_003217		26	182	0	0	0	0.003954	0	26	182		
LIMA1	51474	broad.mit.edu	37	12	50571472	50571472	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:50571472G>C	ENST00000341247.4	-	11	1804	c.1655C>G	c.(1654-1656)tCa>tGa	p.S552*	LIMA1_ENST00000552783.1_Nonsense_Mutation_p.S393*|LIMA1_ENST00000552491.1_Nonsense_Mutation_p.S249*|LIMA1_ENST00000547825.1_Nonsense_Mutation_p.S250*|LIMA1_ENST00000552823.1_Nonsense_Mutation_p.S392*|LIMA1_ENST00000552909.1_Nonsense_Mutation_p.S391*|LIMA1_ENST00000394943.3_Nonsense_Mutation_p.S553*	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	552					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TTTGGGCTTTGACATTTTGAT	0.502																																						uc001rwj.3		NaN																	0				ovary(1)	1						c.(1654-1656)TCA>TGA		LIM domain and actin binding 1 isoform b							127.0	128.0	128.0					12																	50571472		2203	4300	6503	SO:0001587	stop_gained	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50571472G>C	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1655C>G	12.37:g.50571472G>C	ENSP00000340184:p.Ser552*					LIMA1_uc001rwg.3_Nonsense_Mutation_p.S250*|LIMA1_uc001rwh.3_Nonsense_Mutation_p.S391*|LIMA1_uc001rwi.3_Nonsense_Mutation_p.S393*|LIMA1_uc001rwk.3_Nonsense_Mutation_p.S553*|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	p.S552*	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN			11	1829	-			552					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Nonsense_Mutation	SNP	ENST00000341247.4	37	c.1655C>G	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.782722	0.70222	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	.	.	.	5.49	0.407	0.16371	.	0.686198	0.14984	N	0.287054	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.5671	0.22519	0.413:0.124:0.463:0.0	.	.	.	.	X	249;250;392;553;552;393;391;471	.	ENSP00000340184:S552X	S	-	2	0	LIMA1	48857739	0.001000	0.12720	0.060000	0.19600	0.901000	0.52897	1.184000	0.32053	0.087000	0.17167	0.655000	0.94253	TCA		0.502	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2		NM_016357		31	183	0	0	0	0.009535	0	31	183		
ERBB3	2065	broad.mit.edu	37	12	56482341	56482341	+	Missense_Mutation	SNP	G	G	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:56482341G>T	ENST00000267101.3	+	8	1329	c.889G>T	c.(889-891)Gat>Tat	p.D297Y	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.D238Y	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	297					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.D297Y(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTTTGTGGTGGATCAAACATC	0.512																																						uc001sjh.2		NaN																	1	Substitution - Missense(1)		breast(1)	lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(889-891)GAT>TAT		erbB-3 isoform 1 precursor							214.0	207.0	209.0					12																	56482341		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56482341G>T	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.889G>T	12.37:g.56482341G>T	ENSP00000267101:p.Asp297Tyr					ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.D238Y|ERBB3_uc001sji.2_5'UTR	p.D297Y	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		8	1082	+			297			Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.889G>T	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.070538	0.76301	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	D;D	0.84516	-1.86;-1.86	5.2	5.2	0.72013	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000003	D	0.90659	0.7070	L	0.53671	1.685	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.91282	0.5052	10	0.87932	D	0	.	17.6771	0.88233	0.0:0.0:1.0:0.0	.	297	P21860	ERBB3_HUMAN	Y	297;297;238	ENSP00000267101:D297Y;ENSP00000408340:D238Y	ENSP00000267101:D297Y	D	+	1	0	ERBB3	54768608	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	9.173000	0.94815	2.706000	0.92434	0.563000	0.77884	GAT		0.512	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3				132	196	1	0	8.8899e-71	0.01441	9.98331e-71	132	196		
GLS2	27165	broad.mit.edu	37	12	56865968	56865968	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:56865968G>C	ENST00000311966.4	-	16	1801	c.1523C>G	c.(1522-1524)tCa>tGa	p.S508*	GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	508					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	ATCCATGGCTGACAAGGCAAA	0.502																																						uc001slj.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1522-1524)TCA>TGA		glutaminase 2 precursor	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						117.0	109.0	112.0					12																	56865968		2203	4300	6503	SO:0001587	stop_gained	27165				cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding	g.chr12:56865968G>C		CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.1523C>G	12.37:g.56865968G>C	ENSP00000310447:p.Ser508*					GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Nonsense_Mutation_p.S243*|GLS2_uc009zot.2_Nonsense_Mutation_p.S169*	p.S508*	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN			16	1802	-			508					B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Nonsense_Mutation	SNP	ENST00000311966.4	37	c.1523C>G	CCDS8921.1	.	.	.	.	.	.	.	.	.	.	G	40	8.282830	0.98742	.	.	ENSG00000135423	ENST00000311966	.	.	.	4.94	4.94	0.65067	.	0.062060	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-7.4082	17.8092	0.88610	0.0:0.0:1.0:0.0	.	.	.	.	X	508	.	ENSP00000310447:S508X	S	-	2	0	GLS2	55152235	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	9.245000	0.95431	2.666000	0.90696	0.655000	0.94253	TCA		0.502	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277113.1		NM_013267		74	111	0	0	0	0.01441	0	74	111		
NUP107	57122	broad.mit.edu	37	12	69127366	69127366	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:69127366G>T	ENST00000229179.4	+	24	2568	c.2236G>T	c.(2236-2238)Gaa>Taa	p.E746*	NUP107_ENST00000539906.1_Nonsense_Mutation_p.E717*|NUP107_ENST00000378905.2_Nonsense_Mutation_p.E507*|NUP107_ENST00000401003.3_Intron	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	746					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TGCTATCCGAGAACATTTGTG	0.398																																						uc001suf.2		NaN																	0				skin(1)	1						c.(2236-2238)GAA>TAA		nucleoporin 107kDa							130.0	123.0	125.0					12																	69127366		2203	4300	6503	SO:0001587	stop_gained	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69127366G>T	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.2236G>T	12.37:g.69127366G>T	ENSP00000229179:p.Glu746*					NUP107_uc001sug.2_Nonsense_Mutation_p.E505*|NUP107_uc010stj.1_Nonsense_Mutation_p.E717*	p.E746*	NM_020401	NP_065134	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		24	2351	+	Breast(13;6.25e-06)		746					B4DZ67|Q6PJE1	Nonsense_Mutation	SNP	ENST00000229179.4	37	c.2236G>T	CCDS8985.1	.	.	.	.	.	.	.	.	.	.	G	38	7.085139	0.98051	.	.	ENSG00000111581	ENST00000229179;ENST00000378905;ENST00000539906	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-27.828	20.3117	0.98644	0.0:0.0:1.0:0.0	.	.	.	.	X	746;507;717	.	.	E	+	1	0	NUP107	67413633	1.000000	0.71417	0.997000	0.53966	0.017000	0.09413	9.133000	0.94460	2.884000	0.98904	0.655000	0.94253	GAA		0.398	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1		NM_020401		7	121	1	0	0.00198382	0.001984	0.0020322	7	121		
PPFIA2	8499	broad.mit.edu	37	12	81675058	81675058	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:81675058T>C	ENST00000549396.1	-	27	3350	c.3190A>G	c.(3190-3192)Aaa>Gaa	p.K1064E	PPFIA2_ENST00000549325.1_Missense_Mutation_p.K1049E|PPFIA2_ENST00000550584.2_Missense_Mutation_p.K1064E|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Missense_Mutation_p.K250E|PPFIA2_ENST00000407050.4_Missense_Mutation_p.K963E|PPFIA2_ENST00000550359.2_Missense_Mutation_p.K911E|PPFIA2_ENST00000541570.2_Missense_Mutation_p.K600E|PPFIA2_ENST00000552948.1_Missense_Mutation_p.K1043E|PPFIA2_ENST00000443686.3_Missense_Mutation_p.K959E|PPFIA2_ENST00000333447.7_Missense_Mutation_p.K1049E|PPFIA2_ENST00000548586.1_Missense_Mutation_p.K1058E|RP11-121G22.3_ENST00000549161.1_lincRNA	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1064	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCACCATTTTTAAATGGACA	0.323																																						uc001szo.1		NaN																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(3190-3192)AAA>GAA		PTPRF interacting protein alpha 2							73.0	69.0	70.0					12																	81675058		1803	4065	5868	SO:0001583	missense	8499							g.chr12:81675058T>C	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3190A>G	12.37:g.81675058T>C	ENSP00000450337:p.Lys1064Glu					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.K1064E	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			27	3351	-			963					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.3190A>G	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.745406	0.89663	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72	5.42	5.42	0.78866	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	M	0.87547	2.89	0.80722	D	1	D	0.53312	0.959	D	0.72625	0.978	T	0.78478	-0.2188	10	0.87932	D	0	-36.1998	15.7394	0.77876	0.0:0.0:0.0:1.0	.	1064	O75334	LIPA2_HUMAN	E	1064;1049;600;250;963;1075;1049;1058;959;1043	ENSP00000450337:K1064E;ENSP00000450298:K1049E;ENSP00000438337:K600E;ENSP00000445532:K250E;ENSP00000385093:K963E;ENSP00000327416:K1049E;ENSP00000449338:K1058E;ENSP00000388373:K959E;ENSP00000447868:K1043E	ENSP00000327416:K1049E	K	-	1	0	PPFIA2	80199189	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.941000	0.87700	2.183000	0.69458	0.397000	0.26171	AAA		0.323	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1				6	16	0	0	0	0.001168	0	6	16		
ACACB	32	broad.mit.edu	37	12	109625935	109625935	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:109625935C>G	ENST00000338432.7	+	13	2231	c.2112C>G	c.(2110-2112)ttC>ttG	p.F704L	ACACB_ENST00000377848.3_Missense_Mutation_p.F704L|ACACB_ENST00000377854.5_Missense_Mutation_p.F704L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	704	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GGCACTGCTTCTCCTGGGGAG	0.542																																						uc001tob.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(2110-2112)TTC>TTG		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						129.0	117.0	121.0					12																	109625935		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109625935C>G	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2112C>G	12.37:g.109625935C>G	ENSP00000341044:p.Phe704Leu					ACACB_uc001toc.2_Missense_Mutation_p.F704L	p.F704L	NM_001093	NP_001084	O00763	ACACB_HUMAN			13	2231	+			704			Biotin carboxylation.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.2112C>G	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	c	24.8	4.573101	0.86542	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854	T;T;T	0.80653	-1.4;-1.4;-1.4	5.12	4.23	0.50019	Rudiment single hybrid motif (1);ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);Biotin carboxylase, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91178	0.7221	M	0.91972	3.26	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.92783	0.6242	10	0.87932	D	0	.	13.7391	0.62836	0.0:0.9253:0.0:0.0747	.	704	O00763	ACACB_HUMAN	L	704	ENSP00000341044:F704L;ENSP00000367079:F704L;ENSP00000367085:F704L	ENSP00000341044:F704L	F	+	3	2	ACACB	108110318	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.080000	0.41586	1.194000	0.43101	0.531000	0.56144	TTC		0.542	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1		NM_001093		20	110	0	0	0	0.012319	0	20	110		
GCN1L1	10985	broad.mit.edu	37	12	120565654	120565654	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:120565654C>T	ENST00000300648.6	-	58	8027	c.8015G>A	c.(8014-8016)tGa>tAa	p.*2672*		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	0					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAGGCCTCTCATGTCAGGAT	0.542																																						uc001txo.2		NaN																	0				ovary(4)	4						c.(8014-8016)TGA>TAA		GCN1 general control of amino-acid synthesis							101.0	108.0	106.0					12																	120565654		2013	4184	6197	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120565654C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.8015G>A	12.37:g.120565654C>T							p.*2672*	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			58	8028	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2672					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.8015G>A	CCDS41847.1																																																																																				0.542	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1				30	232	0	0	0	0.008361	0	30	232		
RSRC2	65117	broad.mit.edu	37	12	123001882	123001882	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:123001882G>A	ENST00000331738.7	-	5	639	c.494C>T	c.(493-495)tCg>tTg	p.S165L	RSRC2_ENST00000354654.2_Missense_Mutation_p.S117L	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	165	Ser-rich.						poly(A) RNA binding (GO:0044822)	p.S165L(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TCTGGATCTCGATTTCTTCCT	0.517																																						uc001ucr.2		NaN																	1	Substitution - Missense(1)		skin(1)	ovary(1)	1						c.(493-495)TCG>TTG		arginine/serine-rich coiled-coil 2 isoform a							214.0	176.0	189.0					12																	123001882		2203	4300	6503	SO:0001583	missense	65117							g.chr12:123001882G>A	AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.494C>T	12.37:g.123001882G>A	ENSP00000330188:p.Ser165Leu					RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_Missense_Mutation_p.S106L|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Missense_Mutation_p.S117L|RSRC2_uc001ucu.2_Missense_Mutation_p.S165L	p.S165L	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)	5	640	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		165			Ser-rich.		Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	ENST00000331738.7	37	c.494C>T	CCDS31920.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.008537|4.008537	0.75046|0.75046	.|.	.|.	ENSG00000111011|ENSG00000111011	ENST00000526560|ENST00000331738;ENST00000354654;ENST00000418773;ENST00000344591	.|T;T;T	.|0.40476	.|1.03;1.03;1.03	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|0.252023	.|0.40640	.|N	.|0.001050	.|T	.|0.43122	.|0.1233	M|M	0.79926|0.79926	2.475|2.475	0.31184|0.31184	N|N	0.701756|0.701756	.|P;P;P;P	.|0.42692	.|0.787;0.557;0.787;0.557	.|B;B;B;B	.|0.34418	.|0.182;0.129;0.182;0.182	.|T	.|0.59506	.|-0.7442	.|10	0.87932|0.37606	D|T	0|0.19	.|.	14.516|14.516	0.67818|0.67818	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|165;117;165;106	.|F5GXM2;Q7L4I2-2;Q7L4I2;E1B6W4	.|.;.;RSRC2_HUMAN;.	X|L	59|165;117;165;106	.|ENSP00000330188:S165L;ENSP00000346678:S117L;ENSP00000343315:S106L	ENSP00000446470:R59X|ENSP00000330188:S165L	R|S	-|-	1|2	2|0	RSRC2|RSRC2	121567835|121567835	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.108000|0.108000	0.19459|0.19459	5.593000|5.593000	0.67550|0.67550	2.589000|2.589000	0.87451|0.87451	0.655000|0.655000	0.94253|0.94253	CGA|TCG		0.517	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395096.3		NM_023012		13	115	0	0	0	0.001855	0	13	115		
SNRNP35	11066	broad.mit.edu	37	12	123950235	123950235	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:123950235C>T	ENST00000526639.2	+	2	727	c.148C>T	c.(148-150)Ctc>Ttc	p.L50F	SNRNP35_ENST00000350887.5_Missense_Mutation_p.L50F|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000412157.2_Missense_Mutation_p.L55F	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	50					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						AGGAGATCCCCTCCTCACCCT	0.557																																						uc001ufb.1		NaN																	0					0						c.(148-150)CTC>TTC		small nuclear ribonucleoprotein 35kDa (U11/U12)							102.0	82.0	89.0					12																	123950235		2203	4300	6503	SO:0001583	missense	11066				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding	g.chr12:123950235C>T	BC054034	CCDS9249.1, CCDS45005.1	12q24.31	2013-02-12				ENSG00000184209		"""RNA binding motif (RRM) containing"""	30852	protein-coding gene	gene with protein product	"""U1 snRNP binding protein homolog"""					10520751, 8889548	Standard	XM_005253545		Approved	U1SNRNPBP	uc001ufb.1	Q16560		ENST00000526639.2:c.148C>T	12.37:g.123950235C>T	ENSP00000432595:p.Leu50Phe					SNRNP35_uc010tar.1_Missense_Mutation_p.L55F|SNRNP35_uc009zxz.2_Missense_Mutation_p.L55F|SNRNP35_uc001ufc.1_Intron	p.L50F	NM_022717	NP_073208	Q16560	U1SBP_HUMAN			2	264	+			50					A8K262|Q5XKN9	Missense_Mutation	SNP	ENST00000526639.2	37	c.148C>T	CCDS9249.1	.	.	.	.	.	.	.	.	.	.	C	9.824	1.186589	0.21870	.	.	ENSG00000184209	ENST00000526639;ENST00000412157;ENST00000350887	T;T;T	0.74421	-0.84;-0.84;-0.84	5.83	3.95	0.45737	.	0.262934	0.36482	N	0.002565	T	0.56891	0.2016	N	0.22421	0.69	0.40497	D	0.980604	P;B	0.36144	0.539;0.006	B;B	0.31547	0.132;0.009	T	0.52888	-0.8515	10	0.10636	T	0.68	-30.1781	15.1052	0.72315	0.2585:0.7415:0.0:0.0	.	55;50	Q16560-2;Q16560	.;U1SBP_HUMAN	F	50;55;50	ENSP00000432595:L50F;ENSP00000403310:L55F;ENSP00000340774:L50F	ENSP00000340774:L50F	L	+	1	0	SNRNP35	122516188	0.998000	0.40836	0.999000	0.59377	0.988000	0.76386	3.659000	0.54489	0.762000	0.33152	0.650000	0.86243	CTC		0.557	SNRNP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395197.2		NM_007020		17	89	0	0	0	0.006122	0	17	89		
DHX37	57647	broad.mit.edu	37	12	125473494	125473494	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr12:125473494G>A	ENST00000308736.2	-	1	173	c.75C>T	c.(73-75)ccC>ccT	p.P25P		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	25							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGGGCGGCTCGGGGGGGCCCT	0.711																																						uc001ugy.2		NaN																	0				skin(1)	1						c.(73-75)CCC>CCT		DEAH (Asp-Glu-Ala-His) box polypeptide 37							10.0	14.0	13.0					12																	125473494		1765	3777	5542	SO:0001819	synonymous_variant	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125473494G>A	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.75C>T	12.37:g.125473494G>A							p.P25P	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	1	174	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		25					Q9BUI7|Q9P211	Silent	SNP	ENST00000308736.2	37	c.75C>T	CCDS9261.1																																																																																				0.711	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_032656		29	34	0	0	0	0.003755	0	29	34		
CCNA1	8900	broad.mit.edu	37	13	37012218	37012218	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr13:37012218G>A	ENST00000255465.4	+	4	823	c.559G>A	c.(559-561)Gta>Ata	p.V187I	CCNA1_ENST00000440264.1_Missense_Mutation_p.V143I|CCNA1_ENST00000449823.1_Missense_Mutation_p.V143I|CCNA1_ENST00000418263.1_Missense_Mutation_p.V186I			P78396	CCNA1_HUMAN	cyclin A1	187					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CCCTATGCTGGTAGATTCATC	0.383																																						uc001uvr.3		NaN																	0				lung(2)|skin(2)|ovary(1)	5						c.(559-561)GTA>ATA		cyclin A1 isoform a							193.0	187.0	189.0					13																	37012218		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37012218G>A	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.559G>A	13.37:g.37012218G>A	ENSP00000255465:p.Val187Ile					CCNA1_uc010teo.1_Missense_Mutation_p.V143I|CCNA1_uc010abq.2_Missense_Mutation_p.V143I|CCNA1_uc010abp.2_Missense_Mutation_p.V143I|CCNA1_uc001uvs.3_Missense_Mutation_p.V186I|CCNA1_uc010abr.2_Intron	p.V187I	NM_003914	NP_003905	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	4	909	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	187					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.559G>A	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.561160	0.27915	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.15834	2.44;2.44;2.39;2.39	5.55	5.55	0.83447	.	0.194338	0.43919	D	0.000505	T	0.24967	0.0606	M	0.66939	2.045	0.54753	D	0.999986	B;B	0.28584	0.216;0.138	B;B	0.30943	0.122;0.057	T	0.02320	-1.1177	10	0.31617	T	0.26	.	19.5156	0.95162	0.0:0.0:1.0:0.0	.	186;187	P78396-2;P78396	.;CCNA1_HUMAN	I	143;143;186;187	ENSP00000400666:V143I;ENSP00000409873:V143I;ENSP00000396479:V186I;ENSP00000255465:V187I	ENSP00000255465:V187I	V	+	1	0	CCNA1	35910218	1.000000	0.71417	0.997000	0.53966	0.009000	0.06853	2.880000	0.48530	2.605000	0.88082	0.563000	0.77884	GTA		0.383	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2		NM_003914		36	53	0	0	0	0.003755	0	36	53		
OR4K5	79317	broad.mit.edu	37	14	20389081	20389081	+	Missense_Mutation	SNP	C	C	A	rs562226194		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr14:20389081C>A	ENST00000315915.4	+	1	341	c.316C>A	c.(316-318)Ctt>Att	p.L106I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTTATTCACCTTTTTACTGG	0.433																																						uc010tkw.1		NaN																	0				ovary(1)|skin(1)	2						c.(316-318)CTT>ATT		olfactory receptor, family 4, subfamily K,							216.0	229.0	225.0					14																	20389081		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389081C>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.316C>A	14.37:g.20389081C>A	ENSP00000319511:p.Leu106Ile						p.L106I	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	316	+	all_cancers(95;0.00108)		106			Helical; Name=3; (Potential).		Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.316C>A	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	7.708	0.694602	0.15039	.	.	ENSG00000176281	ENST00000315915	T	0.00406	7.55	4.41	0.28	0.15682	GPCR, rhodopsin-like superfamily (1);	0.153987	0.30244	N	0.010069	T	0.00271	0.0008	L	0.49571	1.57	0.09310	N	0.999999	B	0.24317	0.101	B	0.21151	0.033	T	0.46610	-0.9179	10	0.28530	T	0.3	.	1.604	0.02680	0.1608:0.3437:0.3133:0.1822	.	106	Q8NGD3	OR4K5_HUMAN	I	106	ENSP00000319511:L106I	ENSP00000319511:L106I	L	+	1	0	OR4K5	19458921	0.000000	0.05858	0.041000	0.18516	0.819000	0.46315	-0.456000	0.06754	-0.138000	0.11434	-0.136000	0.14681	CTT		0.433	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1		NM_001005483		18	44	1	0	1.99824e-07	0.00499	2.10869e-07	18	44		
LRRC16B	90668	broad.mit.edu	37	14	24520155	24520155	+	5'Flank	SNP	G	G	C	rs375471592		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr14:24520155G>C	ENST00000342740.5	+	0	0				LRRC16B_ENST00000334420.7_5'Flank|RP11-468E2.9_ENST00000558293.1_RNA	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B							cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		ATGGTGGGTGGAGGAACCCCG	0.597																																						uc010alc.2		NaN																	0					0						c.(823-825)GGA>GCA		dehydrogenase/reductase (SDR family) member 4							65.0	65.0	65.0					14																	24520155		2203	4300	6503	SO:0001631	upstream_gene_variant	728635						binding|oxidoreductase activity	g.chr14:24520155G>C	AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23			14.37:g.24520155G>C	Exception_encountered					DHRS4L1_uc010tnu.1_RNA|LRRC16B_uc001wlj.2_5'Flank	p.G275A	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN			10	824	+			275					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.824G>C	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613412	0.46631	.	.	ENSG00000225766	ENST00000397065	.	.	.	4.7	4.7	0.59300	NAD(P)-binding domain (1);	.	.	.	.	T	0.81336	0.4801	M	0.87900	2.915	0.51482	D	0.999923	D	0.89917	1.0	D	0.85130	0.997	D	0.86170	0.1599	7	0.87932	D	0	.	15.1816	0.72962	0.0:0.0:1.0:0.0	.	275	P0CG22	DR4L1_HUMAN	A	275	.	ENSP00000380255:G275A	G	+	2	0	AL136295.1	23589995	1.000000	0.71417	0.973000	0.42090	0.891000	0.51852	6.263000	0.72521	2.431000	0.82371	0.455000	0.32223	GGA		0.597	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1		NM_138360		8	22	0	0	0	0.006214	0	8	22		
SEC23A	10484	broad.mit.edu	37	14	39545169	39545169	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr14:39545169G>C	ENST00000307712.6	-	8	1474	c.957C>G	c.(955-957)gaC>gaG	p.D319E	SEC23A_ENST00000536508.1_Missense_Mutation_p.D193E|SEC23A_ENST00000537403.1_Missense_Mutation_p.D117E|SEC23A_ENST00000545328.2_Missense_Mutation_p.D290E	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	319					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		ATTTGGCATTGTCTTTGTCAA	0.383																																						uc001wup.1		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)	5						c.(955-957)GAC>GAG		SEC23-related protein A							94.0	85.0	88.0					14																	39545169		2203	4300	6503	SO:0001583	missense	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39545169G>C	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.957C>G	14.37:g.39545169G>C	ENSP00000306881:p.Asp319Glu					SEC23A_uc010tqa.1_Missense_Mutation_p.D181E|SEC23A_uc010tqb.1_Missense_Mutation_p.D290E|SEC23A_uc010tqc.1_Missense_Mutation_p.D181E	p.D319E	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	8	1180	-	Hepatocellular(127;0.213)		319					B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	ENST00000307712.6	37	c.957C>G	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215229	0.58452	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328;ENST00000554645	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	5.26	0.312	0.15837	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	M	0.84082	2.675	0.80722	D	1	B;P;P;P	0.42123	0.027;0.729;0.537;0.771	B;B;B;P	0.47528	0.043;0.413;0.219;0.549	T	0.74523	-0.3637	10	0.44086	T	0.13	-12.8235	9.9221	0.41470	0.3343:0.0:0.6657:0.0	.	207;290;193;319	G3V531;F5H365;F5H6C4;Q15436	.;.;.;SC23A_HUMAN	E	117;319;193;290;207	ENSP00000444193:D117E;ENSP00000306881:D319E;ENSP00000437715:D193E;ENSP00000445393:D290E	ENSP00000306881:D319E	D	-	3	2	SEC23A	38614920	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	3.326000	0.52037	-0.142000	0.11354	0.655000	0.94253	GAC		0.383	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2				5	18	0	0	0	0.000602	0	5	18		
AHNAK2	113146	broad.mit.edu	37	14	105409421	105409421	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr14:105409421C>T	ENST00000333244.5	-	7	12486	c.12367G>A	c.(12367-12369)Gac>Aac	p.D4123N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4123						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACATCCTTGTCGGCCAGGGAC	0.587																																						uc010axc.1		NaN																	0				ovary(1)	1						c.(12367-12369)GAC>AAC		AHNAK nucleoprotein 2							256.0	267.0	264.0					14																	105409421		2015	4153	6168	SO:0001583	missense	113146					nucleus		g.chr14:105409421C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12367G>A	14.37:g.105409421C>T	ENSP00000353114:p.Asp4123Asn					AHNAK2_uc001ypx.2_Missense_Mutation_p.D4023N	p.D4123N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12487	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4123					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.12367G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	16.29	3.080269	0.55753	.	.	ENSG00000185567	ENST00000333244	T	0.01821	4.62	4.07	3.18	0.36537	.	1.077410	0.07543	U	0.914216	T	0.09158	0.0226	M	0.86420	2.815	0.09310	N	1	D	0.69078	0.997	P	0.59889	0.865	T	0.32402	-0.9908	10	0.18276	T	0.48	.	9.4725	0.38851	0.0:0.8927:0.0:0.1073	rs56311121	4123	Q8IVF2	AHNK2_HUMAN	N	4123	ENSP00000353114:D4123N	ENSP00000353114:D4123N	D	-	1	0	AHNAK2	104480466	0.399000	0.25287	0.016000	0.15963	0.003000	0.03518	-0.136000	0.10405	0.730000	0.32425	-0.350000	0.07774	GAC		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		96	250	0	0	0	0.01441	0	96	250		
MAGEL2	54551	broad.mit.edu	37	15	23889145	23889145	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:23889145G>C	ENST00000532292.1	-	1	2030	c.1936C>G	c.(1936-1938)Cgc>Ggc	p.R646G		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	529					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)	p.R646S(1)|p.P677P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		ACCTATTAGCGGGGAGGGGGC	0.577																																						uc001ywj.3		NaN																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(1936-1938)CGC>GGC		MAGE-like protein 2							25.0	29.0	28.0					15																	23889145		2009	4178	6187	SO:0001583	missense	54551							g.chr15:23889145G>C	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1936C>G	15.37:g.23889145G>C	ENSP00000433433:p.Arg646Gly						p.R646G	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	2031	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Missense_Mutation	SNP	ENST00000532292.1	37	c.1936C>G																																																																																					0.577	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2		NM_019066		8	16	0	0	0	0.00308	0	8	16		
MAGEL2	54551	broad.mit.edu	37	15	23890799	23890799	+	Silent	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:23890799G>C	ENST00000532292.1	-	1	376	c.282C>G	c.(280-282)ccC>ccG	p.P94P		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	0					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CCGGGGGTCCGGGCTGGGCCT	0.652																																						uc001ywj.3		NaN																	0					0						c.(280-282)CCC>CCG		MAGE-like protein 2							9.0	11.0	10.0					15																	23890799		1859	4080	5939	SO:0001819	synonymous_variant	54551							g.chr15:23890799G>C	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.282C>G	15.37:g.23890799G>C							p.P94P	NM_019066	NP_061939				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	377	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Silent	SNP	ENST00000532292.1	37	c.282C>G		.	.	.	.	.	.	.	.	.	.	g	0.038	-1.295676	0.01375	.	.	ENSG00000254585	ENST00000532292	.	.	.	3.66	-7.3	0.01446	.	.	.	.	.	T	0.17280	0.0415	.	.	.	0.22446	N	0.999096	.	.	.	.	.	.	T	0.21211	-1.0252	5	0.27082	T	0.32	.	2.276	0.04103	0.239:0.1035:0.1362:0.5213	.	.	.	.	R	126	.	ENSP00000433433:P126R	P	-	2	0	MAGEL2	21441892	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.383000	0.01063	-1.781000	0.01277	-1.365000	0.01206	CCG		0.652	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2		NM_019066		5	16	0	0	0	0.000602	0	5	16		
PLA2G4F	255189	broad.mit.edu	37	15	42439886	42439886	+	Silent	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:42439886C>A	ENST00000382396.4	-	12	1220	c.1134G>T	c.(1132-1134)ggG>ggT	p.G378G	PLA2G4F_ENST00000397272.3_Silent_p.G380G			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	378	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCTCCTGCAACCCTGCCAGGC	0.577																																						uc001zoz.2		NaN																	0				ovary(4)	4						c.(1132-1134)GGG>GGT		phospholipase A2, group IVF							97.0	101.0	99.0					15																	42439886		2203	4299	6502	SO:0001819	synonymous_variant	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42439886C>A		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1134G>T	15.37:g.42439886C>A						PLA2G4F_uc010bcq.2_5'Flank|PLA2G4F_uc001zoy.2_Silent_p.G10G|PLA2G4F_uc010bcr.2_Silent_p.G129G|PLA2G4F_uc001zpa.2_Silent_p.G129G|PLA2G4F_uc010bcs.2_Silent_p.G165G	p.G378G	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	12	1197	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	378			PLA2c.		Q6ZMC8	Silent	SNP	ENST00000382396.4	37	c.1134G>T	CCDS32204.1																																																																																				0.577	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1		NM_213600		30	83	1	0	1.88708e-17	0.008361	2.08572e-17	30	83		
C15orf43	145645	broad.mit.edu	37	15	45270712	45270712	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:45270712G>C	ENST00000340827.3	+	7	566	c.549G>C	c.(547-549)aaG>aaC	p.K183N		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	183										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		ATGCCATGAAGAAATTCCTTG	0.294																																						uc001zuk.2		NaN																	0					0						c.(547-549)AAG>AAC		hypothetical protein LOC145645							51.0	53.0	53.0					15																	45270712		2196	4287	6483	SO:0001583	missense	145645							g.chr15:45270712G>C	BC029537	CCDS10115.1	15q21.1	2006-02-03			ENSG00000167014	ENSG00000167014			28520	protein-coding gene	gene with protein product							Standard	NM_152448		Approved	MGC33951	uc001zuk.4	Q8NHR7	OTTHUMG00000131264	ENST00000340827.3:c.549G>C	15.37:g.45270712G>C	ENSP00000340644:p.Lys183Asn						p.K183N	NM_152448	NP_689661	Q8NHR7	CO043_HUMAN		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)	7	566	+		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)	183						Missense_Mutation	SNP	ENST00000340827.3	37	c.549G>C	CCDS10115.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411067	0.42817	.	.	ENSG00000167014	ENST00000340827	T	0.46451	0.87	4.05	4.05	0.47172	.	0.174732	0.35870	N	0.002933	T	0.33265	0.0857	N	0.24115	0.695	0.26532	N	0.974241	P	0.44429	0.835	P	0.44477	0.451	T	0.20773	-1.0265	10	0.54805	T	0.06	.	12.1098	0.53834	0.0:0.0:1.0:0.0	.	183	Q8NHR7	CO043_HUMAN	N	183	ENSP00000340644:K183N	ENSP00000340644:K183N	K	+	3	2	C15orf43	43058004	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	5.920000	0.70017	1.981000	0.57761	0.298000	0.19748	AAG		0.294	C15orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254032.1		NM_152448		7	20	0	0	0	0.001984	0	7	20		
DUOX1	53905	broad.mit.edu	37	15	45454121	45454121	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:45454121G>C	ENST00000321429.4	+	31	4449	c.4042G>C	c.(4042-4044)Gag>Cag	p.E1348Q	DUOX1_ENST00000389037.3_Missense_Mutation_p.E1348Q|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.E994Q	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1348	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCGCCTCAGGGAGATCTACTC	0.617																																						uc001zus.1		NaN																	0				ovary(5)|skin(2)|breast(1)	8						c.(4042-4044)GAG>CAG		dual oxidase 1 precursor							57.0	52.0	54.0					15																	45454121		2198	4298	6496	SO:0001583	missense	53905				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity	g.chr15:45454121G>C	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4042G>C	15.37:g.45454121G>C	ENSP00000317997:p.Glu1348Gln					DUOX1_uc001zut.1_Missense_Mutation_p.E1348Q|DUOX1_uc010bee.1_Missense_Mutation_p.E728Q	p.E1348Q	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)	31	4388	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1348			Cytoplasmic (Potential).|FAD-binding FR-type.		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	ENST00000321429.4	37	c.4042G>C	CCDS32221.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525839	0.85600	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.14640	2.49;2.49	4.22	4.22	0.49857	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.046163	0.85682	D	0.000000	T	0.29620	0.0739	L	0.52364	1.645	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.00942	-1.1506	10	0.39692	T	0.17	-29.4885	14.4433	0.67333	0.0:0.0:1.0:0.0	.	1348	Q9NRD9	DUOX1_HUMAN	Q	1348	ENSP00000317997:E1348Q;ENSP00000373689:E1348Q	ENSP00000317997:E1348Q	E	+	1	0	DUOX1	43241413	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.777000	0.85628	2.345000	0.79718	0.555000	0.69702	GAG		0.617	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416251.1		NM_017434		8	22	0	0	0	0.00308	0	8	22		
PRTG	283659	broad.mit.edu	37	15	55919293	55919293	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:55919293G>C	ENST00000389286.4	-	17	2887	c.2840C>G	c.(2839-2841)tCa>tGa	p.S947*		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCCAGTCATTGATTTTTGGTC	0.358																																						uc002adg.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(2839-2841)TCA>TGA		protogenin precursor							107.0	105.0	106.0					15																	55919293		1911	4120	6031	SO:0001587	stop_gained	283659				multicellular organismal development	integral to membrane		g.chr15:55919293G>C	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2840C>G	15.37:g.55919293G>C	ENSP00000373937:p.Ser947*						p.S947*	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	17	2888	-			947						Nonsense_Mutation	SNP	ENST00000389286.4	37	c.2840C>G	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	G	41	8.655188	0.98901	.	.	ENSG00000166450	ENST00000389286	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-14.8814	17.6591	0.88187	0.0:0.0:1.0:0.0	.	.	.	.	X	947	.	ENSP00000373937:S947X	S	-	2	0	PRTG	53706585	1.000000	0.71417	0.422000	0.26621	0.993000	0.82548	8.723000	0.91458	2.422000	0.82143	0.557000	0.71058	TCA		0.358	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1		NM_173814		5	31	0	0	0	0.000602	0	5	31		
CLPX	10845	broad.mit.edu	37	15	65447318	65447318	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:65447318G>A	ENST00000300107.3	-	11	1601	c.1413C>T	c.(1411-1413)gaC>gaT	p.D471D		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	471					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TTTCTTCAATGTCTTGGTGAG	0.473																																						uc002aom.2		NaN																	0					0						c.(1411-1413)GAC>GAT		ClpX caseinolytic protease X homolog precursor							191.0	146.0	161.0					15																	65447318		2202	4299	6501	SO:0001819	synonymous_variant	10845				protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding	g.chr15:65447318G>A	AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.1413C>T	15.37:g.65447318G>A						CLPX_uc010uiu.1_RNA	p.D471D	NM_006660	NP_006651	O76031	CLPX_HUMAN			11	1485	-			471					A1L428|A8K8F1|B9EGI8|Q9H4D9	Silent	SNP	ENST00000300107.3	37	c.1413C>T	CCDS10202.1																																																																																				0.473	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256828.2		NM_006660		15	24	0	0	0	0.00245	0	15	24		
KIAA1024	23251	broad.mit.edu	37	15	79749968	79749968	+	Silent	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:79749968T>C	ENST00000305428.3	+	2	1554	c.1479T>C	c.(1477-1479)tcT>tcC	p.S493S		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	493						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGTGCACCTCTGGTCAGGGCA	0.532																																						uc002bew.1		NaN																	0				pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(1477-1479)TCT>TCC		hypothetical protein LOC23251							91.0	77.0	81.0					15																	79749968		2196	4293	6489	SO:0001819	synonymous_variant	23251					integral to membrane		g.chr15:79749968T>C	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.1479T>C	15.37:g.79749968T>C						KIAA1024_uc010unk.1_Silent_p.S493S	p.S493S	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			2	1554	+			493					A7MD43	Silent	SNP	ENST00000305428.3	37	c.1479T>C	CCDS32306.1																																																																																				0.532	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1		NM_015206		8	26	0	0	0	0.004482	0	8	26		
CEMIP	57214	broad.mit.edu	37	15	81199027	81199027	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:81199027G>C	ENST00000394685.3	+	13	1854	c.1435G>C	c.(1435-1437)Ggg>Cgg	p.G479R	RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.G479R|KIAA1199_ENST00000220244.3_Missense_Mutation_p.G479R|RP11-351M8.1_ENST00000560560.1_Intron			Q8WUJ3	CEMIP_HUMAN		479	Necessary for its endoplasmic reticulum (ER) retention and interaction with HSPA5.				hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.G479R(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCTGCACATCGGGGAGGAGAT	0.582																																						uc002bfw.1		NaN																	1	Substitution - Missense(1)		kidney(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1435-1437)GGG>CGG		KIAA1199 precursor							158.0	141.0	147.0					15																	81199027		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81199027G>C																												ENST00000394685.3:c.1435G>C	15.37:g.81199027G>C	ENSP00000378177:p.Gly479Arg					KIAA1199_uc010unn.1_Missense_Mutation_p.G479R	p.G479R	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN			12	1695	+			479					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.1435G>C	CCDS10315.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294095	0.60086	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.41400	1.0;1.0;1.0	4.69	3.77	0.43336	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	M	0.89353	3.025	0.58432	D	0.999991	P	0.39782	0.688	B	0.33890	0.172	T	0.61569	-0.7036	10	0.87932	D	0	-22.6791	13.1832	0.59666	0.0774:0.0:0.9226:0.0	.	479	Q8WUJ3	K1199_HUMAN	R	479	ENSP00000220244:G479R;ENSP00000378177:G479R;ENSP00000348583:G479R	ENSP00000220244:G479R	G	+	1	0	KIAA1199	78986082	1.000000	0.71417	0.985000	0.45067	0.300000	0.27592	9.126000	0.94411	1.324000	0.45282	-0.136000	0.14681	GGG		0.582	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1				21	53	0	0	0	0.004656	0	21	53		
WDR93	56964	broad.mit.edu	37	15	90272286	90272286	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:90272286G>A	ENST00000268130.7	+	10	1186	c.1085G>A	c.(1084-1086)tGc>tAc	p.C362Y	WDR93_ENST00000560294.1_Missense_Mutation_p.C362Y|WDR93_ENST00000444934.2_Missense_Mutation_p.C79Y	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	362					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CTTCCTAGCTGCCTATTTGCA	0.537																																						uc002boj.2		NaN																	0				ovary(2)	2						c.(1084-1086)TGC>TAC		WD repeat domain 93							224.0	198.0	207.0					15																	90272286		2200	4299	6499	SO:0001583	missense	56964				electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	g.chr15:90272286G>A		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.1085G>A	15.37:g.90272286G>A	ENSP00000268130:p.Cys362Tyr					WDR93_uc010bnr.2_Missense_Mutation_p.C362Y|WDR93_uc010upz.1_Missense_Mutation_p.C79Y	p.C362Y	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		10	1186	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		362					Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	37	c.1085G>A	CCDS32326.1	.	.	.	.	.	.	.	.	.	.	G	8.155	0.788307	0.16258	.	.	ENSG00000140527	ENST00000268130;ENST00000444934	T;T	0.42900	1.96;0.96	5.46	0.444	0.16592	WD40 repeat-like-containing domain (1);	1.322690	0.04680	N	0.412138	T	0.30854	0.0778	L	0.36672	1.1	0.09310	N	1	P;P	0.41265	0.744;0.744	B;B	0.34722	0.188;0.188	T	0.28490	-1.0042	10	0.45353	T	0.12	-1.836	6.8457	0.23987	0.1237:0.5794:0.2969:0.0	.	362;362	Q6P2C0-2;Q6P2C0	.;WDR93_HUMAN	Y	362;79	ENSP00000268130:C362Y;ENSP00000403871:C79Y	ENSP00000268130:C362Y	C	+	2	0	WDR93	88073290	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.223000	0.17719	0.197000	0.20387	0.655000	0.94253	TGC		0.537	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1		NM_020212		29	76	0	0	0	0.010818	0	29	76		
IQGAP1	8826	broad.mit.edu	37	15	90972827	90972827	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr15:90972827G>A	ENST00000268182.5	+	4	443	c.319G>A	c.(319-321)Ggc>Agc	p.G107S	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	107	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTAGGCGACTGGCCTCCACTT	0.353																																						uc002bpl.1		NaN																	0				ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(319-321)GGC>AGC		IQ motif containing GTPase activating protein 1							136.0	126.0	129.0					15																	90972827		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:90972827G>A	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.319G>A	15.37:g.90972827G>A	ENSP00000268182:p.Gly107Ser						p.G107S	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		4	420	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		107			CH.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.319G>A	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002067	0.93227	.	.	ENSG00000140575	ENST00000268182	T	0.02837	4.14	5.34	5.34	0.76211	Calponin homology domain (5);	0.131543	0.50627	D	0.000117	T	0.16041	0.0386	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00026	-1.2311	10	0.62326	D	0.03	-17.5933	18.2112	0.89871	0.0:0.0:1.0:0.0	.	107	P46940	IQGA1_HUMAN	S	107	ENSP00000268182:G107S	ENSP00000268182:G107S	G	+	1	0	IQGAP1	88773831	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	9.563000	0.98148	2.776000	0.95493	0.650000	0.86243	GGC		0.353	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1		NM_003870		15	30	0	0	0	0.00499	0	15	30		
BAIAP3	8938	broad.mit.edu	37	16	1388576	1388576	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:1388576G>A	ENST00000324385.5	+	2	289	c.131G>A	c.(130-132)aGc>aAc	p.S44N	BAIAP3_ENST00000562208.1_Missense_Mutation_p.S9N|BAIAP3_ENST00000397489.1_Missense_Mutation_p.S9N|BAIAP3_ENST00000421665.2_Missense_Mutation_p.S9N|BAIAP3_ENST00000397488.2_Missense_Mutation_p.S9N|BAIAP3_ENST00000568887.1_Missense_Mutation_p.S9N|BAIAP3_ENST00000426824.3_Missense_Mutation_p.S9N	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	44					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GACATTAAGAGCAGCGTGCTC	0.672																																						uc002clk.1		NaN																	0				pancreas(1)	1						c.(130-132)AGC>AAC		BAI1-associated protein 3							45.0	35.0	38.0					16																	1388576		2194	4296	6490	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1388576G>A	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.131G>A	16.37:g.1388576G>A	ENSP00000324510:p.Ser44Asn					BAIAP3_uc002clj.2_Missense_Mutation_p.S9N|BAIAP3_uc010uuz.1_Missense_Mutation_p.S9N|BAIAP3_uc010uva.1_Missense_Mutation_p.S9N|BAIAP3_uc010uvb.1_Missense_Mutation_p.S44N|BAIAP3_uc010uvc.1_Missense_Mutation_p.S9N	p.S44N	NM_003933	NP_003924	O94812	BAIP3_HUMAN			2	131	+		Hepatocellular(780;0.0893)	44					A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.131G>A	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486100	0.84854	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.79141	-0.88;-0.88;-0.93;-0.88;-1.24	4.01	4.01	0.46588	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	L	0.56769	1.78	0.33350	D	0.570953	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.81914	0.994;0.995;0.994;0.994;0.994	D	0.86891	0.2048	10	0.46703	T	0.11	-32.4674	11.8178	0.52222	0.0:0.0:1.0:0.0	.	9;44;9;44;9	E7EUB9;B4DGA2;B4DIK3;O94812;A2A2B2	.;.;.;BAIP3_HUMAN;.	N	9;9;44;9;9	ENSP00000407242:S9N;ENSP00000380625:S9N;ENSP00000324510:S44N;ENSP00000380626:S9N;ENSP00000409533:S9N	ENSP00000324510:S44N	S	+	2	0	BAIAP3	1328577	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	2.391000	0.44424	2.244000	0.73946	0.491000	0.48974	AGC		0.672	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3				27	5	0	0	0	0.007291	0	27	5		
ZNF263	10127	broad.mit.edu	37	16	3339613	3339613	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:3339613G>A	ENST00000219069.5	+	6	1983	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P	ZNF263_ENST00000574253.1_Missense_Mutation_p.R203Q|ZNF263_ENST00000538765.1_Silent_p.P17P	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	369					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TGGGGCGACCGAAGGAACTGC	0.537																																						uc002cuq.2		NaN																	0				skin(3)|ovary(1)	4						c.(1105-1107)CCG>CCA		zinc finger protein 263							56.0	55.0	55.0					16																	3339613		2197	4300	6497	SO:0001819	synonymous_variant	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3339613G>A	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.1107G>A	16.37:g.3339613G>A						ZNF263_uc010uww.1_Silent_p.P17P|ZNF263_uc002cur.2_Silent_p.P17P	p.P369P	NM_005741	NP_005732	O14978	ZN263_HUMAN			6	1439	+			369					B2R634|O43387|Q96H95	Silent	SNP	ENST00000219069.5	37	c.1107G>A	CCDS10499.1																																																																																				0.537	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2				20	33	0	0	0	0.007413	0	20	33		
TEKT5	146279	broad.mit.edu	37	16	10775971	10775971	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:10775971C>T	ENST00000283025.2	-	4	813	c.742G>A	c.(742-744)Gtg>Atg	p.V248M		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	248						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CTCTCCAGCACGTGCTGAGCA	0.552																																						uc002czz.1		NaN																	0				ovary(2)	2						c.(742-744)GTG>ATG		tektin 5							207.0	170.0	182.0					16																	10775971		2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10775971C>T		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.742G>A	16.37:g.10775971C>T	ENSP00000283025:p.Val248Met						p.V248M	NM_144674	NP_653275	Q96M29	TEKT5_HUMAN			4	814	-			248					A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.742G>A	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	C	5.845	0.340211	0.11069	.	.	ENSG00000153060	ENST00000283025	T	0.02421	4.3	5.05	-4.24	0.03777	.	0.224336	0.30859	N	0.008734	T	0.01156	0.0038	N	0.08118	0	0.09310	N	1	B	0.31730	0.337	B	0.26864	0.074	T	0.44251	-0.9340	10	0.49607	T	0.09	-0.2447	4.5987	0.12343	0.3093:0.4241:0.0:0.2666	.	248	Q96M29	TEKT5_HUMAN	M	248	ENSP00000283025:V248M	ENSP00000283025:V248M	V	-	1	0	TEKT5	10683472	0.136000	0.22515	0.000000	0.03702	0.000000	0.00434	1.688000	0.37690	-0.765000	0.04645	-1.596000	0.00833	GTG		0.552	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1		NM_144674		70	84	0	0	0	0.01441	0	70	84		
HEATR3	55027	broad.mit.edu	37	16	50109505	50109505	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:50109505G>A	ENST00000299192.7	+	6	837	c.646G>A	c.(646-648)Gag>Aag	p.E216K	HEATR3_ENST00000285767.4_Missense_Mutation_p.E130K	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	216										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GACAGTGACTGAGGATAACCC	0.383																																						uc002efw.2		NaN																	0				ovary(1)|skin(1)	2						c.(646-648)GAG>AAG		HEAT repeat containing 3							119.0	104.0	109.0					16																	50109505		2198	4300	6498	SO:0001583	missense	55027						binding	g.chr16:50109505G>A	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.646G>A	16.37:g.50109505G>A	ENSP00000299192:p.Glu216Lys					HEATR3_uc002efx.2_Missense_Mutation_p.E130K	p.E216K	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN			6	808	+			216					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.646G>A	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	32	5.147852	0.94603	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.46063	0.88;0.88	4.94	4.94	0.65067	Armadillo-like helical (1);Armadillo-type fold (1);	0.046351	0.85682	D	0.000000	T	0.67841	0.2936	M	0.80183	2.485	0.58432	D	0.999999	D;D	0.89917	1.0;0.996	D;P	0.77004	0.989;0.907	T	0.73065	-0.4100	10	0.72032	D	0.01	.	18.5556	0.91083	0.0:0.0:1.0:0.0	.	130;216	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	K	130;216	ENSP00000285767:E130K;ENSP00000299192:E216K	ENSP00000285767:E130K	E	+	1	0	HEATR3	48667006	1.000000	0.71417	0.988000	0.46212	0.975000	0.68041	8.372000	0.90127	2.441000	0.82636	0.650000	0.86243	GAG		0.383	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2		NM_182922		19	34	0	0	0	0.008871	0	19	34		
DYNC1LI2	1783	broad.mit.edu	37	16	66757722	66757722	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:66757722T>C	ENST00000258198.2	-	13	1588	c.1382A>G	c.(1381-1383)cAa>cGa	p.Q461R	DYNC1LI2_ENST00000379482.2_Intron|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.Q384R|RP11-63M22.2_ENST00000569274.1_RNA	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	461					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|centrosome localization (GO:0051642)|microtubule cytoskeleton organization (GO:0000226)|microtubule-based movement (GO:0007018)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CACAGTCTTTTGTCCTGAAAA	0.333																																						uc002eqb.1		NaN																	0				central_nervous_system(3)|skin(1)	4						c.(1381-1383)CAA>CGA		dynein, cytoplasmic, light intermediate							87.0	80.0	83.0					16																	66757722		2201	4300	6501	SO:0001583	missense	1783				transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity	g.chr16:66757722T>C	AF035812	CCDS10818.1, CCDS67049.1	16q22.1	2008-02-05	2005-11-25	2005-11-25	ENSG00000135720	ENSG00000135720		"""Cytoplasmic dyneins"""	2966	protein-coding gene	gene with protein product		611406	"""dynein, cytoplasmic, light intermediate polypeptide 2"""	DNCLI2		16260502	Standard	NM_006141		Approved		uc002eqb.1	O43237	OTTHUMG00000137523	ENST00000258198.2:c.1382A>G	16.37:g.66757722T>C	ENSP00000258198:p.Gln461Arg					DYNC1LI2_uc010vis.1_Missense_Mutation_p.Q384R	p.Q461R	NM_006141	NP_006132	O43237	DC1L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)	13	1413	-		Ovarian(137;0.0563)	461					A8K6V1|B4DZP4|Q8TAT3	Missense_Mutation	SNP	ENST00000258198.2	37	c.1382A>G	CCDS10818.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303175	0.81136	.	.	ENSG00000135720	ENST00000258198;ENST00000443351	T;T	0.18338	2.22;2.22	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	L	0.57536	1.79	0.80722	D	1	P;P	0.40398	0.716;0.687	P;P	0.50537	0.46;0.643	T	0.01578	-1.1320	10	0.54805	T	0.06	-12.1767	15.8746	0.79151	0.0:0.0:0.0:1.0	.	384;461	B4DZP4;O43237	.;DC1L2_HUMAN	R	461;384	ENSP00000258198:Q461R;ENSP00000394289:Q384R	ENSP00000258198:Q461R	Q	-	2	0	DYNC1LI2	65315223	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.285000	0.78660	2.205000	0.71048	0.533000	0.62120	CAA		0.333	DYNC1LI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268846.1		NM_006141		14	26	0	0	0	0.003163	0	14	26		
FBXO31	79791	broad.mit.edu	37	16	87364973	87364973	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:87364973G>A	ENST00000311635.7	-	9	1553	c.1541C>T	c.(1540-1542)gCc>gTc	p.A514V	RP11-178L8.4_ENST00000568879.1_Intron	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	514					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CCGGAAGGTGGCCTGGACCCG	0.617																																						uc002fjw.2		NaN																	0				lung(1)	1						c.(1540-1542)GCC>GTC		F-box protein 31							72.0	57.0	62.0					16																	87364973		2198	4300	6498	SO:0001583	missense	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87364973G>A	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.1541C>T	16.37:g.87364973G>A	ENSP00000310841:p.Ala514Val					FBXO31_uc010vot.1_Missense_Mutation_p.A342V|FBXO31_uc002fjv.2_Missense_Mutation_p.A406V	p.A514V	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	9	1585	-			514					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	c.1541C>T	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321059	0.41096	.	.	ENSG00000103264	ENST00000311635	.	.	.	4.86	2.9	0.33743	.	0.161766	0.52532	N	0.000073	T	0.19287	0.0463	N	0.08118	0	0.31197	N	0.700276	B;B	0.15473	0.007;0.013	B;B	0.11329	0.004;0.006	T	0.07139	-1.0788	9	0.51188	T	0.08	-17.1456	3.6189	0.08087	0.322:0.0:0.5069:0.1711	.	514;406	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	V	514	.	ENSP00000310841:A514V	A	-	2	0	FBXO31	85922474	1.000000	0.71417	0.963000	0.40424	0.987000	0.75469	3.406000	0.52637	0.577000	0.29470	-0.258000	0.10820	GCC		0.617	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2		NM_024735		8	21	0	0	0	0.004482	0	8	21		
SPATA33	124045	broad.mit.edu	37	16	89724678	89724678	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:89724678C>T	ENST00000301031.4	+	2	57	c.57C>T	c.(55-57)tcC>tcT	p.S19S	SPATA33_ENST00000568929.1_5'UTR|CHMP1A_ENST00000253475.5_5'Flank|CHMP1A_ENST00000547614.1_5'Flank|SPATA33_ENST00000579310.1_Silent_p.S20S|CHMP1A_ENST00000535997.2_5'Flank|CHMP1A_ENST00000397901.3_5'Flank|CHMP1A_ENST00000550102.1_5'Flank	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1	Q96N06	SPT33_HUMAN	spermatogenesis associated 33	19						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AGAAGGGATCCACCTATTCAG	0.532																																						uc002fnw.1		NaN																	0					0						c.(55-57)TCC>TCT		hypothetical protein LOC124045							83.0	87.0	86.0					16																	89724678		2198	4300	6498	SO:0001819	synonymous_variant	124045							g.chr16:89724678C>T	AK056168	CCDS10983.1, CCDS62012.1, CCDS73929.1	16q24.3	2013-07-16	2013-07-05	2013-07-05	ENSG00000167523	ENSG00000167523			26463	protein-coding gene	gene with protein product		615409	"""chromosome 16 open reading frame 55"""	C16orf55		23844118	Standard	NM_153025		Approved	FLJ31606	uc010vpk.2	Q96N06	OTTHUMG00000138048	ENST00000301031.4:c.57C>T	16.37:g.89724678C>T						CHMP1A_uc002fnu.2_5'Flank|CHMP1A_uc002fnv.2_5'Flank|C16orf55_uc002fnx.3_Silent_p.S20S|C16orf55_uc010vpk.1_Silent_p.S20S|C16orf55_uc002fny.1_Intron	p.S19S	NM_153025	NP_694570	Q96N06	CP055_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	2	57	+		all_lung(18;0.000665)|all_hematologic(23;0.0355)	19					A8WFL2|B4DZN8	Silent	SNP	ENST00000301031.4	37	c.57C>T	CCDS10983.1																																																																																				0.532	SPATA33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269924.2		NM_153025		10	37	0	0	0	0.008291	0	10	37		
DNAH9	1770	broad.mit.edu	37	17	11648245	11648245	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr17:11648245G>A	ENST00000262442.4	+	31	6311	c.6243G>A	c.(6241-6243)aaG>aaA	p.K2081K	DNAH9_ENST00000454412.2_Silent_p.K2081K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2081					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.K2081N(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACATCCCCAAGATTGTGACTG	0.597																																						uc002gne.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(6241-6243)AAG>AAA		dynein, axonemal, heavy chain 9 isoform 2							67.0	64.0	65.0					17																	11648245		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11648245G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6243G>A	17.37:g.11648245G>A						DNAH9_uc010coo.2_Silent_p.K1375K	p.K2081K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	31	6311	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2081					A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.6243G>A	CCDS11160.1																																																																																				0.597	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2		NM_001372		8	6	0	0	0	0.004482	0	8	6		
KIAA0100	9703	broad.mit.edu	37	17	26945872	26945872	+	Silent	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr17:26945872C>G	ENST00000528896.2	-	32	5834	c.5760G>C	c.(5758-5760)ctG>ctC	p.L1920L	SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.L1777L|KIAA0100_ENST00000579924.2_5'UTR|KIAA0100_ENST00000544884.1_Silent_p.L1777L|SPAG5-AS1_ENST00000554154.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1920						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTTCCTCTGTCAGGCGCCACC	0.512																																						uc002hbu.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.(5758-5760)CTG>CTC		hypothetical protein LOC9703 precursor							134.0	115.0	121.0					17																	26945872		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26945872C>G	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.5760G>C	17.37:g.26945872C>G						KIAA0100_uc002hbt.2_Silent_p.L249L	p.L1920L	NM_014680	NP_055495	Q14667	K0100_HUMAN			32	5859	-	Lung NSC(42;0.00431)		1920					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.5760G>C	CCDS32595.1																																																																																				0.512	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3		NM_014680		7	114	0	0	0	0.001984	0	7	114		
ACBD4	79777	broad.mit.edu	37	17	43215296	43215296	+	Missense_Mutation	SNP	G	G	A	rs561659128		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr17:43215296G>A	ENST00000376955.4	+	8	877	c.580G>A	c.(580-582)Ggg>Agg	p.G194R	ACBD4_ENST00000321854.8_Missense_Mutation_p.R197Q|ACBD4_ENST00000586346.1_Missense_Mutation_p.G210R|ACBD4_ENST00000398322.3_Missense_Mutation_p.R197Q|ACBD4_ENST00000431281.1_Missense_Mutation_p.G210R|ACBD4_ENST00000592162.1_Missense_Mutation_p.R197Q|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000591859.1_Missense_Mutation_p.G210R	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	194							fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						ACAGAGCAGCGGGCAGCATCT	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14883	0.0		0.0	False		,,,				2504	0.0					uc002iid.2		NaN																	0				ovary(1)|kidney(1)	2						c.(580-582)GGG>AGG		acyl-Coenzyme A binding domain containing 4							57.0	65.0	63.0					17																	43215296		2106	4231	6337	SO:0001583	missense	79777						fatty-acyl-CoA binding	g.chr17:43215296G>A	BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 4"""				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111	ENST00000376955.4:c.580G>A	17.37:g.43215296G>A	ENSP00000366154:p.Gly194Arg					ACBD4_uc010wjj.1_Missense_Mutation_p.G210R|ACBD4_uc002iie.2_Missense_Mutation_p.G210R|ACBD4_uc002iif.2_Missense_Mutation_p.R197Q|ACBD4_uc002iic.2_Missense_Mutation_p.R197Q|ACBD4_uc010dae.2_Missense_Mutation_p.G132R	p.G194R	NM_001135707	NP_001129179	Q8NC06	ACBD4_HUMAN			8	924	+			194					D3DX64|Q8IUT1|Q9H8Q4	Missense_Mutation	SNP	ENST00000376955.4	37	c.580G>A	CCDS45711.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.375|1.375	-0.585034|-0.585034	0.03827|0.03827	.|.	.|.	ENSG00000181513|ENSG00000181513	ENST00000431281;ENST00000321854;ENST00000376955|ENST00000398322	T;T|T	0.30981|0.12255	1.51;2.43|2.7	5.47|5.47	-8.48|-8.48	0.00935|0.00935	.|.	0.902167|.	0.09552|.	N|.	0.786838|.	T|T	0.06462|0.06462	0.0166|0.0166	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B;B|B	0.14805|0.12013	0.011;0.002|0.005	B;B|B	0.12156|0.06405	0.007;0.002|0.002	T|T	0.43909|0.43909	-0.9362|-0.9362	9|8	0.72032|0.18276	D|T	0.01|0.48	.|.	11.2643|11.2643	0.49101|0.49101	0.7326:0.1107:0.1567:0.0|0.7326:0.1107:0.1567:0.0	.|.	210;194|197	Q8NC06-3;Q8NC06|Q8NC06-2	.;ACBD4_HUMAN|.	R|Q	210;210;194|197	ENSP00000405969:G210R;ENSP00000366154:G194R|ENSP00000381367:R197Q	ENSP00000314440:G210R|ENSP00000381367:R197Q	G|R	+|+	1|2	0|0	ACBD4|ACBD4	40570822|40570822	0.109000|0.109000	0.22037|0.22037	0.005000|0.005000	0.12908|0.12908	0.000000|0.000000	0.00434|0.00434	-0.949000|-0.949000	0.03893|0.03893	-1.127000|-1.127000	0.02925|0.02925	-1.092000|-1.092000	0.02172|0.02172	GGG|CGG		0.607	ACBD4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000449816.1		NM_024722		6	51	0	0	0	0.001984	0	6	51		
SLC16A6	9120	broad.mit.edu	37	17	66270122	66270122	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr17:66270122C>T	ENST00000327268.4	-	4	486	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	SLC16A6_ENST00000580666.1_Missense_Mutation_p.A108T|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	108					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GAGAAGGAGGCGGCCACCATC	0.542																																						uc002jgz.1		NaN																	0					0						c.(322-324)GCC>ACC		solute carrier family 16, member 6	Pyruvic acid(DB00119)						87.0	74.0	79.0					17																	66270122		2203	4300	6503	SO:0001583	missense	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66270122C>T	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.322G>A	17.37:g.66270122C>T	ENSP00000319991:p.Ala108Thr					ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Missense_Mutation_p.A108T	p.A108T	NM_004694	NP_004685	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	510	-	all_cancers(12;1.24e-09)		108			Helical; (Potential).		Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	c.322G>A	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472329	0.43942	.	.	ENSG00000108932	ENST00000327268	T	0.49139	0.79	5.8	4.82	0.62117	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.172324	0.51477	D	0.000098	T	0.44644	0.1303	L	0.45051	1.395	0.47511	D	0.999443	P	0.35551	0.509	B	0.38264	0.269	T	0.39781	-0.9597	10	0.44086	T	0.13	.	15.2254	0.73348	0.1417:0.8583:0.0:0.0	.	108	O15403	MOT7_HUMAN	T	108	ENSP00000319991:A108T	ENSP00000319991:A108T	A	-	1	0	SLC16A6	63781717	0.959000	0.32827	0.839000	0.33178	0.632000	0.37999	2.184000	0.42575	1.414000	0.47017	0.655000	0.94253	GCC		0.542	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1		NM_004694		9	41	0	0	0	0.004482	0	9	41		
SOX9	6662	broad.mit.edu	37	17	70119895	70119895	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr17:70119895G>A	ENST00000245479.2	+	3	1269	c.897G>A	c.(895-897)ccG>ccA	p.P299P		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	299					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			AGTACCTGCCGCCCAACGGCC	0.682																																					Pancreas(42;83 1041 2320 35205 39456)	uc002jiw.2		NaN																	0					0						c.(895-897)CCG>CCA		transcription factor SOX9							40.0	36.0	37.0					17																	70119895		2202	4299	6501	SO:0001819	synonymous_variant	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70119895G>A	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.897G>A	17.37:g.70119895G>A						uc002jiv.2_5'Flank	p.P299P	NM_000346	NP_000337	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		3	1269	+		Colorectal(1115;0.245)	299					Q53Y80	Silent	SNP	ENST00000245479.2	37	c.897G>A	CCDS11689.1																																																																																				0.682	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1		NM_000346		13	61	0	0	0	0.003163	0	13	61		
GALR2	8811	broad.mit.edu	37	17	74073059	74073059	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr17:74073059G>A	ENST00000329003.3	+	2	801	c.711G>A	c.(709-711)atG>atA	p.M237I	ZACN_ENST00000392503.2_5'Flank|ZACN_ENST00000334586.5_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	237					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TGACACGCATGATCCTCATCG	0.706																																						uc002jqm.1		NaN																	0					0						c.(709-711)ATG>ATA		galanin receptor 2							28.0	29.0	28.0					17																	74073059		2203	4298	6501	SO:0001583	missense	8811				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity	g.chr17:74073059G>A	AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.711G>A	17.37:g.74073059G>A	ENSP00000329684:p.Met237Ile					ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank	p.M237I	NM_003857	NP_003848	O43603	GALR2_HUMAN			2	792	+			237			Cytoplasmic (Potential).		A5JUU4|Q32MN8	Missense_Mutation	SNP	ENST00000329003.3	37	c.711G>A	CCDS11739.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474473	0.84640	.	.	ENSG00000182687	ENST00000329003	T	0.39056	1.1	4.85	2.82	0.32997	GPCR, rhodopsin-like superfamily (1);	0.053539	0.64402	D	0.000001	T	0.47116	0.1428	L	0.58354	1.805	0.58432	D	0.999993	P	0.46706	0.883	P	0.49887	0.625	T	0.50866	-0.8777	10	0.72032	D	0.01	.	10.9368	0.47249	0.1582:0.0:0.8418:0.0	.	237	O43603	GALR2_HUMAN	I	237	ENSP00000329684:M237I	ENSP00000329684:M237I	M	+	3	0	GALR2	71584654	1.000000	0.71417	0.992000	0.48379	0.968000	0.65278	7.754000	0.85163	1.040000	0.40099	0.462000	0.41574	ATG		0.706	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394760.1				26	20	0	0	0	0.005443	0	26	20		
DENND1C	79958	broad.mit.edu	37	19	6468350	6468350	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:6468350C>G	ENST00000381480.2	-	22	1798	c.1686G>C	c.(1684-1686)gaG>gaC	p.E562D	DENND1C_ENST00000543576.1_Missense_Mutation_p.E518D	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	562					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						TGTCCAGAATCTCGCTCAACA	0.577																																						uc002mfe.2		NaN																	0				large_intestine(1)	1						c.(1684-1686)GAG>GAC		DENN/MADD domain containing 1C							53.0	54.0	54.0					19																	6468350		2022	4171	6193	SO:0001583	missense	79958					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	g.chr19:6468350C>G	AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.1686G>C	19.37:g.6468350C>G	ENSP00000370889:p.Glu562Asp					DENND1C_uc002mfb.2_Missense_Mutation_p.E112D|DENND1C_uc002mfc.2_Missense_Mutation_p.E112D|DENND1C_uc002mfd.2_Missense_Mutation_p.E112D|DENND1C_uc010xje.1_Missense_Mutation_p.E518D	p.E562D	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN			22	1778	-			562					B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	ENST00000381480.2	37	c.1686G>C	CCDS45938.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649883	0.67358	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.17528	2.45;2.27	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000001	T	0.29684	0.0741	L	0.41236	1.265	0.40478	D	0.980412	D	0.76494	0.999	D	0.76071	0.987	T	0.02610	-1.1134	10	0.21540	T	0.41	-27.3273	13.2355	0.59967	0.0:1.0:0.0:0.0	.	562	Q8IV53	DEN1C_HUMAN	D	562;518	ENSP00000370889:E562D;ENSP00000437805:E518D	ENSP00000370889:E562D	E	-	3	2	DENND1C	6419350	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	3.146000	0.50631	2.168000	0.68352	0.305000	0.20034	GAG		0.577	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453332.2		NM_024898		7	14	0	0	0	0.00308	0	7	14		
TYK2	7297	broad.mit.edu	37	19	10477209	10477209	+	Silent	SNP	C	C	T	rs55988893	byFrequency	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:10477209C>T	ENST00000525621.1	-	6	994	c.513G>A	c.(511-513)tcG>tcA	p.S171S	TYK2_ENST00000264818.6_Silent_p.S171S|TYK2_ENST00000529370.1_Silent_p.S171S|TYK2_ENST00000524462.1_5'UTR	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	171	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCTCCTCGGTCGACAGCTCCC	0.557													C|||	2	0.000399361	0.0	0.0	5008	,	,		17409	0.002		0.0	False		,,,				2504	0.0					uc002moc.3		NaN																	0				lung(5)|large_intestine(2)|ovary(1)|breast(1)	9						c.(511-513)TCG>TCA		tyrosine kinase 2							172.0	158.0	163.0					19																	10477209		2203	4300	6503	SO:0001819	synonymous_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10477209C>T		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.513G>A	19.37:g.10477209C>T						TYK2_uc010dxe.2_5'UTR|TYK2_uc002mod.2_Silent_p.S171S	p.S171S	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		6	891	-			171			FERM.		Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	c.513G>A	CCDS12236.1																																																																																				0.557	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1				40	141	0	0	0	0.01441	0	40	141		
S1PR5	53637	broad.mit.edu	37	19	10624779	10624779	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:10624779G>A	ENST00000439028.3	-	2	1034	c.909C>T	c.(907-909)ccC>ccT	p.P303P	S1PR5_ENST00000333430.4_Silent_p.P303P	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	303					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	TGTAGATGATGGGGTTCAGAA	0.672																																						uc002mot.1		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(907-909)CCC>CCT		endothelial differentiation, sphingolipid							39.0	38.0	38.0					19																	10624779		2203	4300	6503	SO:0001819	synonymous_variant	53637					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10624779G>A	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.909C>T	19.37:g.10624779G>A						S1PR5_uc002mou.1_Silent_p.P303P	p.P303P	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN			2	966	-			303			Helical; Name=7; (By similarity).		Q6NW11	Silent	SNP	ENST00000439028.3	37	c.909C>T	CCDS12240.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416415	0.25552	.	.	ENSG00000180739	ENST00000359134	.	.	.	5.11	1.45	0.22620	.	.	.	.	.	T	0.59115	0.2170	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58758	-0.7580	5	0.87932	D	0	.	4.8433	0.13501	0.0797:0.2708:0.5105:0.1389	.	.	.	.	Y	272	.	ENSP00000352045:H272Y	H	-	1	0	S1PR5	10485779	0.997000	0.39634	1.000000	0.80357	0.933000	0.57130	0.345000	0.19979	0.518000	0.28383	0.491000	0.48974	CAT		0.672	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1		NM_030760		11	35	0	0	0	0.010729	0	11	35		
CARM1	10498	broad.mit.edu	37	19	11031350	11031350	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:11031350C>T	ENST00000327064.4	+	12	1540	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	CARM1_ENST00000344150.4_Silent_p.I450I	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	450	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GCTACGACATCAGTATTGTGG	0.622																																						uc002mpz.2		NaN																	0					0						c.(1348-1350)ATC>ATT		coactivator-associated arginine							96.0	88.0	91.0					19																	11031350		2203	4300	6503	SO:0001819	synonymous_variant	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11031350C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.1350C>T	19.37:g.11031350C>T						CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_Silent_p.I233I	p.I450I	NM_199141	NP_954592	Q86X55	CARM1_HUMAN			12	1476	+			450					A6NN38	Silent	SNP	ENST00000327064.4	37	c.1350C>T	CCDS12250.1																																																																																				0.622	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1		XM_032719		19	62	0	0	0	0.010504	0	19	62		
RGL3	57139	broad.mit.edu	37	19	11526625	11526625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:11526625G>A	ENST00000380456.3	-	5	688	c.625C>T	c.(625-627)Cag>Tag	p.Q209*	RGL3_ENST00000393423.3_Nonsense_Mutation_p.Q209*	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	209					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GTCCACACCTGAGGCGGCTCC	0.572																																					GBM(174;751 2067 17998 27979 33959)	uc002mrp.2		NaN																	0				ovary(1)	1						c.(625-627)CAG>TAG		ral guanine nucleotide dissociation							150.0	158.0	156.0					19																	11526625		2203	4300	6503	SO:0001587	stop_gained	57139				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular		g.chr19:11526625G>A	BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.625C>T	19.37:g.11526625G>A	ENSP00000369823:p.Gln209*					RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mro.2_Nonsense_Mutation_p.Q209*	p.Q209*	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN			5	689	-			209					B5ME84|B7ZL22|Q0P6G0	Nonsense_Mutation	SNP	ENST00000380456.3	37	c.625C>T	CCDS32910.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.89|12.89	2.074962|2.074962	0.36566|0.36566	.|.	.|.	ENSG00000205517|ENSG00000205517	ENST00000393423;ENST00000380456|ENST00000342684	.|.	.|.	.|.	3.22|3.22	-2.32|-2.32	0.06745|0.06745	.|.	4.943930|.	0.00687|.	N|.	0.000706|.	.|T	.|0.61337	.|0.2339	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70063	.|-0.4975	.|4	0.06625|0.45353	T|T	0.88|0.12	.|.	13.9761|13.9761	0.64275|0.64275	0.0:0.6321:0.3679:0.0|0.0:0.6321:0.3679:0.0	.|.	.|.	.|.	.|.	X|L	209|9	.|.	ENSP00000369823:Q209X|ENSP00000344665:S9L	Q|S	-|-	1|2	0|0	RGL3|RGL3	11387625|11387625	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.357000|0.357000	0.20199|0.20199	-0.273000|-0.273000	0.09246|0.09246	0.511000|0.511000	0.50034|0.50034	CAG|TCA		0.572	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421208.3		XM_290867		116	162	0	0	0	0.01441	0	116	162		
ZNF20	7568	broad.mit.edu	37	19	12243475	12243475	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:12243475T>C	ENST00000334213.5	-	4	1750	c.1526A>G	c.(1525-1527)aAg>aGg	p.K509R	ZNF20_ENST00000485451.1_5'Flank|ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	509					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|lung(6)	8						GCCACATTGCTTGCATTGATA	0.403																																						uc002mtf.1		NaN																	0					0						c.(1525-1527)AAG>AGG		zinc finger protein 20							174.0	186.0	182.0					19																	12243475		2194	4298	6492	SO:0001583	missense	7568				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12243475T>C	X52344	CCDS45986.1	19p13.2	2013-01-08	2006-05-10		ENSG00000132010	ENSG00000132010		"""Zinc fingers, C2H2-type"", ""-"""	12992	protein-coding gene	gene with protein product		194557	"""zinc finger protein 20 (KOX 13)"""				Standard	NM_021143		Approved	KOX13	uc002mtf.2	P17024	OTTHUMG00000156409	ENST00000334213.5:c.1526A>G	19.37:g.12243475T>C	ENSP00000335437:p.Lys509Arg					ZNF20_uc002mte.1_Missense_Mutation_p.K474R|ZNF20_uc002mtg.1_Missense_Mutation_p.K509R	p.K509R	NM_021143	NP_066966	P17024	ZNF20_HUMAN			4	1669	-			509			C2H2-type 15.		Q8N457|Q9UG41	Missense_Mutation	SNP	ENST00000334213.5	37	c.1526A>G	CCDS45986.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.137037	0.56936	.	.	ENSG00000132010	ENST00000334213;ENST00000292241	T	0.19532	2.14	0.94	0.94	0.19513	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24890	0.0604	L	0.35723	1.085	0.09310	N	1	D	0.67145	0.996	P	0.57911	0.829	T	0.10268	-1.0637	9	0.66056	D	0.02	.	4.1031	0.10023	0.0:0.0:0.0:1.0	.	509	P17024	ZNF20_HUMAN	R	509	ENSP00000335437:K509R	ENSP00000292241:K509R	K	-	2	0	ZNF20	12104475	0.000000	0.05858	0.002000	0.10522	0.859000	0.49053	-0.999000	0.03697	0.654000	0.30846	0.260000	0.18958	AAG		0.403	ZNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344101.1		NM_021143		98	121	0	0	0	0.01441	0	98	121		
COMP	1311	broad.mit.edu	37	19	18896513	18896513	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:18896513C>T	ENST00000222271.2	-	14	1682	c.1638G>A	c.(1636-1638)caG>caA	p.Q546Q	COMP_ENST00000542601.2_Silent_p.Q513Q|COMP_ENST00000425807.1_Silent_p.Q493Q	NM_000095.2	NP_000086.2	P49747	COMP_HUMAN	cartilage oligomeric matrix protein	546	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|limb development (GO:0060173)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|protease binding (GO:0002020)			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TGGGGTCAATCTGCGCGTCAC	0.622																																						uc002nke.2		NaN																	0					0						c.(1636-1638)CAG>CAA		cartilage oligomeric matrix protein precursor							57.0	53.0	55.0					19																	18896513		2203	4300	6503	SO:0001819	synonymous_variant	1311				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	g.chr19:18896513C>T	L32137	CCDS12385.1	19p13.1	2008-02-05				ENSG00000105664			2227	protein-coding gene	gene with protein product	"""thrombospondin-5"""	600310	"""cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"""	PSACH, EDM1, EPD1		7713493, 8307576	Standard	NM_000095		Approved	MED, THBS5	uc002nke.3	P49747	OTTHUMG00000169318	ENST00000222271.2:c.1638G>A	19.37:g.18896513C>T						COMP_uc002nkd.2_Silent_p.Q513Q|COMP_uc010xqj.1_Silent_p.Q493Q	p.Q546Q	NM_000095	NP_000086	P49747	COMP_HUMAN			14	1674	-			546			Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.		B4DKJ3|O14592|Q16388|Q16389|Q2NL86|Q8N4T2	Silent	SNP	ENST00000222271.2	37	c.1638G>A	CCDS12385.1																																																																																				0.622	COMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403457.1		NM_000095		9	58	0	0	0	0.006214	0	9	58		
PRX	57716	broad.mit.edu	37	19	40909734	40909734	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:40909734C>T	ENST00000324001.7	-	5	333	c.63G>A	c.(61-63)gtG>gtA	p.V21V	PRX_ENST00000291825.7_Silent_p.V21V	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	21	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTCCGTCTCCACGATAATTT	0.682																																						uc002onr.2		NaN																	0				ovary(2)	2						c.(61-63)GTG>GTA		periaxin isoform 2							13.0	12.0	13.0					19																	40909734		2191	4271	6462	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40909734C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.63G>A	19.37:g.40909734C>T						PRX_uc002onq.2_5'UTR|PRX_uc002ons.2_Silent_p.V21V	p.V21V	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		5	332	-			21			PDZ.		Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.63G>A	CCDS33028.1																																																																																				0.682	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1		NM_020956		3	11	0	0	0	0.004672	0	3	11		
KLK15	55554	broad.mit.edu	37	19	51329977	51329977	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:51329977C>G	ENST00000598239.1	-	4	548	c.518G>C	c.(517-519)aGc>aCc	p.S173T	KLK15_ENST00000326856.4_Missense_Mutation_p.S172T|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000301421.2_Intron|KLK1_ENST00000301420.2_5'Flank|KLK15_ENST00000596931.1_Intron|KLK1_ENST00000448701.2_5'Flank	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	173	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CGAGATAATGCTGATGTTGGC	0.562																																					Pancreas(140;10 2513 7143 9246)	uc002ptl.2		NaN																	0				lung(1)|breast(1)	2						c.(517-519)AGC>ACC		kallikrein-related peptidase 15 isoform 4							136.0	124.0	128.0					19																	51329977		2203	4300	6503	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51329977C>G	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.518G>C	19.37:g.51329977C>G	ENSP00000469315:p.Ser173Thr					KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Intron|KLK15_uc002pto.2_Missense_Mutation_p.S172T|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Intron|KLK15_uc010eod.2_Intron	p.S173T	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	4	549	-		all_neural(266;0.057)	173			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.518G>C	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	c	12.62	1.993227	0.35131	.	.	ENSG00000174562	ENST00000326856	.	.	.	4.65	3.62	0.41486	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	D	0.000034	T	0.30634	0.0771	N	0.04148	-0.265	0.80722	D	1	B;P	0.41366	0.21;0.747	B;P	0.47786	0.173;0.557	T	0.14868	-1.0457	9	0.52906	T	0.07	.	6.6657	0.23039	0.0:0.723:0.1804:0.0966	.	172;173	Q6ISI0;Q9H2R5	.;KLK15_HUMAN	T	173	.	ENSP00000314783:S173T	S	-	2	0	KLK15	56021789	1.000000	0.71417	0.975000	0.42487	0.912000	0.54170	2.138000	0.42140	1.338000	0.45544	0.555000	0.69702	AGC		0.562	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1		NM_017509		25	145	0	0	0	0.005443	0	25	145		
NLRP7	199713	broad.mit.edu	37	19	55450851	55450851	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:55450851G>A	ENST00000590030.1	-	3	1376	c.1336C>T	c.(1336-1338)Cgt>Tgt	p.R446C	NLRP7_ENST00000328092.5_Missense_Mutation_p.R446C|NLRP7_ENST00000448121.2_Missense_Mutation_p.R446C|NLRP7_ENST00000340844.2_Missense_Mutation_p.R446C|NLRP7_ENST00000592784.1_Missense_Mutation_p.R446C|NLRP7_ENST00000588756.1_Missense_Mutation_p.R446C|NLRP7_ENST00000446217.1_Missense_Mutation_p.R474C			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	446	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGAACAGACGGAGGTCGGAC	0.632																																						uc002qih.3		NaN																	0				large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(1336-1338)CGT>TGT		NACHT, leucine rich repeat and PYD containing 7							37.0	33.0	34.0					19																	55450851		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55450851G>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1336C>T	19.37:g.55450851G>A	ENSP00000465520:p.Arg446Cys					NLRP7_uc002qig.3_Missense_Mutation_p.R446C|NLRP7_uc002qii.3_Missense_Mutation_p.R446C|NLRP7_uc010esk.2_Missense_Mutation_p.R446C|NLRP7_uc010esl.2_Missense_Mutation_p.R474C	p.R446C	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	1412	-			446			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1336C>T	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	G	7.292	0.611273	0.14066	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.73575	-0.71;-0.71;-0.76;-0.73	1.92	-1.84	0.07809	.	1.827760	0.03383	N	0.200681	T	0.54515	0.1863	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.28971	0.229;0.128;0.128;0.203	B;B;B;B	0.19148	0.02;0.011;0.011;0.024	T	0.38067	-0.9678	10	0.49607	T	0.09	.	0.7678	0.01018	0.1694:0.2546:0.352:0.2239	.	474;446;446;446	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	C	446;446;446;474;213	ENSP00000329568:R446C;ENSP00000409137:R446C;ENSP00000339491:R446C;ENSP00000414273:R474C	ENSP00000329568:R446C	R	-	1	0	NLRP7	60142663	0.000000	0.05858	0.000000	0.03702	0.256000	0.26092	-1.518000	0.02246	-0.369000	0.08028	0.462000	0.41574	CGT		0.632	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1		NM_139176		20	57	0	0	0	0.012319	0	20	57		
NLRP13	126204	broad.mit.edu	37	19	56424636	56424636	+	Missense_Mutation	SNP	T	T	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr19:56424636T>A	ENST00000342929.3	-	5	546	c.547A>T	c.(547-549)Aac>Tac	p.N183Y	NLRP13_ENST00000588751.1_Missense_Mutation_p.N183Y	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	183							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCCTTCATGTTCTCTCTGTAT	0.418																																						uc010ygg.1		NaN																	0				skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(547-549)AAC>TAC		NACHT, leucine rich repeat and PYD containing							149.0	162.0	157.0					19																	56424636		2193	4284	6477	SO:0001583	missense	126204						ATP binding	g.chr19:56424636T>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.547A>T	19.37:g.56424636T>A	ENSP00000343891:p.Asn183Tyr						p.N183Y	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	572	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	183					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.547A>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	T	8.829	0.939544	0.18281	.	.	ENSG00000173572	ENST00000342929	T	0.72835	-0.69	2.12	2.12	0.27331	.	.	.	.	.	T	0.44685	0.1305	N	0.08118	0	0.09310	N	1	B	0.29955	0.263	B	0.24974	0.057	T	0.25779	-1.0122	9	0.27082	T	0.32	.	6.2256	0.20706	0.0:0.0:0.0:1.0	.	183	Q86W25	NAL13_HUMAN	Y	183	ENSP00000343891:N183Y	ENSP00000343891:N183Y	N	-	1	0	NLRP13	61116448	0.070000	0.21116	0.047000	0.18901	0.020000	0.10135	1.055000	0.30467	1.268000	0.44264	0.477000	0.44152	AAC		0.418	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1		NM_176810		13	84	0	0	0	0.003163	0	13	84		
SRBD1	55133	broad.mit.edu	37	2	45789849	45789849	+	Missense_Mutation	SNP	T	T	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr2:45789849T>A	ENST00000263736.4	-	10	1414	c.1352A>T	c.(1351-1353)aAg>aTg	p.K451M	SRBD1_ENST00000535761.1_De_novo_Start_InFrame	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	451					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AATATTGACCTTAACCGTCAG	0.343																																						uc002rus.2		NaN																	0				central_nervous_system(1)	1						c.(1351-1353)AAG>ATG		S1 RNA binding domain 1							126.0	124.0	124.0					2																	45789849		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45789849T>A	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1352A>T	2.37:g.45789849T>A	ENSP00000263736:p.Lys451Met					SRBD1_uc010yoc.1_Translation_Start_Site	p.K451M	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		10	1428	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	451					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.1352A>T	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.010306	0.75046	.	.	ENSG00000068784	ENST00000263736	T	0.51071	0.72	5.04	5.04	0.67666	Tex-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75436	0.3849	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	T	0.83125	-0.0116	10	0.87932	D	0	.	15.1167	0.72407	0.0:0.0:0.0:1.0	.	451	Q8N5C6	SRBD1_HUMAN	M	451	ENSP00000263736:K451M	ENSP00000263736:K451M	K	-	2	0	SRBD1	45643353	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	7.595000	0.82710	2.040000	0.60383	0.254000	0.18369	AAG		0.343	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3		NM_018079		16	85	0	0	0	0.00499	0	16	85		
AMER3	205147	broad.mit.edu	37	2	131520501	131520501	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr2:131520501G>A	ENST00000423981.1	+	2	966	c.856G>A	c.(856-858)Ggc>Agc	p.G286S	AMER3_ENST00000321420.4_Missense_Mutation_p.G286S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	286					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.G286C(1)									GGTTCCCAGGGGCCCTCTCCA	0.637																																						uc002trw.2		NaN																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(856-858)GGC>AGC		hypothetical protein LOC205147							26.0	31.0	30.0					2																	131520501		2202	4300	6502	SO:0001583	missense	205147							g.chr2:131520501G>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.856G>A	2.37:g.131520501G>A	ENSP00000392700:p.Gly286Ser					FAM123C_uc010fmv.2_Missense_Mutation_p.G286S|FAM123C_uc010fms.1_Missense_Mutation_p.G286S|FAM123C_uc010fmt.1_Missense_Mutation_p.G286S|FAM123C_uc010fmu.1_Missense_Mutation_p.G286S	p.G286S	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1046	+	Colorectal(110;0.1)		286					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.856G>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057590	0.36277	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.18338	2.22;2.22	5.21	4.33	0.51752	.	0.323634	0.30510	N	0.009471	T	0.23492	0.0568	M	0.63428	1.95	0.09310	N	1	P	0.48230	0.907	P	0.46389	0.515	T	0.07770	-1.0755	10	0.44086	T	0.13	.	11.4556	0.50181	0.0877:0.0:0.9123:0.0	.	286	Q8N944	F123C_HUMAN	S	286	ENSP00000314914:G286S;ENSP00000392700:G286S	ENSP00000314914:G286S	G	+	1	0	FAM123C	131236971	1.000000	0.71417	0.015000	0.15790	0.079000	0.17450	6.108000	0.71522	1.333000	0.45449	0.561000	0.74099	GGC		0.637	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3		NM_152698		13	40	0	0	0	0.001855	0	13	40		
PDE11A	50940	broad.mit.edu	37	2	178936789	178936789	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr2:178936789C>G	ENST00000286063.6	-	1	693	c.376G>C	c.(376-378)Gcc>Ccc	p.A126P	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	126					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	TTGGAGCGGGCAAAACTCTTC	0.612									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(376-378)GCC>CCC		phosphodiesterase 11A isoform 4							80.0	84.0	83.0					2																	178936789		2203	4300	6503	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178936789C>G	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.376G>C	2.37:g.178936789C>G	ENSP00000286063:p.Ala126Pro					PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron	p.A126P	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		1	694	-			126					Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.376G>C	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.595130	0.86953	.	.	ENSG00000128655	ENST00000286063	T	0.73258	-0.73	5.09	5.09	0.68999	.	0.524221	0.20395	N	0.093161	T	0.81451	0.4825	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.81444	-0.0930	10	0.49607	T	0.09	.	17.4786	0.87667	0.0:1.0:0.0:0.0	.	126	Q9HCR9	PDE11_HUMAN	P	126	ENSP00000286063:A126P	ENSP00000286063:A126P	A	-	1	0	PDE11A	178645035	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.257000	0.78362	2.375000	0.81037	0.591000	0.81541	GCC		0.612	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2				4	79	0	0	0	0.000602	0	4	79		
TTN	7273	broad.mit.edu	37	2	179457374	179457374	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr2:179457374C>T	ENST00000591111.1	-	251	54659	c.54435G>A	c.(54433-54435)ttG>ttA	p.L18145L	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.L10846L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000589042.1_Silent_p.L19786L|TTN_ENST00000342992.6_Silent_p.L17218L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.L10913L|TTN_ENST00000460472.2_Silent_p.L10721L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18145	Ig-like 105.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCAAGAATCAACTCAGGGG	0.373																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(51652-51654)TTG>TTA		titin isoform N2-A							98.0	85.0	89.0					2																	179457374		1842	4094	5936	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179457374C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.54435G>A	2.37:g.179457374C>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L10913L|TTN_uc010zfi.1_Silent_p.L10846L|TTN_uc010zfj.1_Silent_p.L10721L	p.L17218L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		250	51878	-			18145					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.51654G>A																																																																																					0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		6	8	0	0	0	0.001168	0	6	8		
ZNF804A	91752	broad.mit.edu	37	2	185803315	185803315	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr2:185803315G>A	ENST00000302277.6	+	4	3786	c.3192G>A	c.(3190-3192)aaG>aaA	p.K1064K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1064							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGGCCAACAAGGTTAAATTTA	0.468																																						uc002uph.2		NaN																	0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(3190-3192)AAG>AAA		zinc finger protein 804A							96.0	87.0	90.0					2																	185803315		2203	4300	6503	SO:0001819	synonymous_variant	91752					intracellular	zinc ion binding	g.chr2:185803315G>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3192G>A	2.37:g.185803315G>A							p.K1064K	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3786	+			1064					A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	c.3192G>A	CCDS2291.1																																																																																				0.468	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1		NM_194250		16	31	0	0	0	0.004007	0	16	31		
ESPNL	339768	broad.mit.edu	37	2	239013413	239013413	+	Missense_Mutation	SNP	G	G	C	rs555613064	byFrequency	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr2:239013413G>C	ENST00000343063.3	+	3	865	c.602G>C	c.(601-603)cGt>cCt	p.R201P	ESPNL_ENST00000409169.1_Missense_Mutation_p.R201P	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	201										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GTGCACCTTCGTGCTCTCGAT	0.677																																						uc002vxq.3		NaN																	0				pancreas(1)	1						c.(601-603)CGT>CCT		espin-like							39.0	28.0	32.0					2																	239013413		2200	4298	6498	SO:0001583	missense	339768							g.chr2:239013413G>C	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.602G>C	2.37:g.239013413G>C	ENSP00000339115:p.Arg201Pro						p.R201P	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	3	712	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	201					Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	c.602G>C	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291047	0.40494	.	.	ENSG00000144488	ENST00000343063;ENST00000409169	T;T	0.68624	-0.34;-0.34	4.8	3.93	0.45458	Ankyrin repeat-containing domain (4);	0.203527	0.27139	N	0.020741	T	0.76054	0.3934	L	0.53780	1.695	0.80722	D	1	D	0.64830	0.994	D	0.66351	0.943	T	0.76647	-0.2882	10	0.51188	T	0.08	-19.6475	14.0749	0.64885	0.0:0.1527:0.8473:0.0	.	201	Q6ZVH7	ESPNL_HUMAN	P	201	ENSP00000339115:R201P;ENSP00000386577:R201P	ENSP00000339115:R201P	R	+	2	0	ESPNL	238678152	1.000000	0.71417	0.808000	0.32385	0.047000	0.14425	4.849000	0.62882	1.034000	0.39945	-0.371000	0.07208	CGT		0.677	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2		NM_194312		7	7	0	0	0	0.001984	0	7	7		
PASK	23178	broad.mit.edu	37	2	242046892	242046892	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr2:242046892C>T	ENST00000405260.1	-	17	4388	c.3690G>A	c.(3688-3690)ggG>ggA	p.G1230G	PASK_ENST00000544142.1_Silent_p.G1044G|PASK_ENST00000539818.1_Silent_p.G1014G|PASK_ENST00000475666.1_5'UTR|PASK_ENST00000358649.4_Silent_p.G1237G|PASK_ENST00000234040.4_Silent_p.G1230G	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1230	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCTGCAGCAGCCCAGACACAA	0.542																																						uc002wao.1		NaN																	0				ovary(4)|lung(1)|skin(1)	6						c.(3688-3690)GGG>GGA		PAS domain containing serine/threonine kinase							122.0	121.0	121.0					2																	242046892		2203	4300	6503	SO:0001819	synonymous_variant	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242046892C>T	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.3690G>A	2.37:g.242046892C>T						PASK_uc010zol.1_Silent_p.G1044G|PASK_uc010zom.1_Silent_p.G1195G|PASK_uc010fzl.1_Silent_p.G1237G|PASK_uc010zon.1_Silent_p.G1011G	p.G1230G	NM_015148	NP_055963	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	17	3782	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	1230			Protein kinase.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Silent	SNP	ENST00000405260.1	37	c.3690G>A	CCDS2545.1																																																																																				0.542	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1		NM_015148		25	54	0	0	0	0.004656	0	25	54		
HCK	3055	broad.mit.edu	37	20	30674544	30674544	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr20:30674544C>T	ENST00000520553.1	+	9	1132	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L	HCK_ENST00000534862.1_Silent_p.L297L|HCK_ENST00000518730.1_Silent_p.L295L|HCK_ENST00000538448.1_Silent_p.L296L|HCK_ENST00000375862.2_Silent_p.L316L|HCK_ENST00000375852.2_Silent_p.L317L	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	317	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	GCATGACAAGCTGGTCAAACT	0.582																																						uc002wxh.2		NaN																	0				lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9						c.(949-951)CTG>TTG		hemopoietic cell kinase isoform p61HCK							138.0	100.0	113.0					20																	30674544		2203	4300	6503	SO:0001819	synonymous_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30674544C>T	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.886C>T	20.37:g.30674544C>T						HCK_uc010gdy.2_Silent_p.L296L|HCK_uc002wxi.2_Silent_p.L295L	p.L317L	NM_002110	NP_002101	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		9	1120	+			317			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	c.949C>T	CCDS54455.1																																																																																				0.582	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1				75	15	0	0	0	0.01441	0	75	15		
GGT7	2686	broad.mit.edu	37	20	33442618	33442618	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr20:33442618G>A	ENST00000336431.5	-	9	1255	c.1211C>T	c.(1210-1212)gCt>gTt	p.A404V	GGT7_ENST00000469018.1_5'Flank	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	404					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						CCAGTGAAGAGCCTGTTCTCG	0.567																																						uc002xay.2		NaN																	0				ovary(1)	1						c.(1210-1212)GCT>GTT		gamma-glutamyltransferase 7							76.0	69.0	71.0					20																	33442618		2203	4300	6503	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33442618G>A	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1211C>T	20.37:g.33442618G>A	ENSP00000338964:p.Ala404Val					GGT7_uc002xaz.1_Missense_Mutation_p.A421V	p.A404V	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN			9	1254	-			404			Extracellular (Potential).		Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.1211C>T	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691148	0.48097	.	.	ENSG00000131067	ENST00000336431	T	0.06608	3.28	6.06	5.11	0.69529	.	0.163548	0.53938	D	0.000045	T	0.06325	0.0163	L	0.31926	0.97	0.38307	D	0.943145	B;B	0.21071	0.051;0.029	B;B	0.19946	0.027;0.022	T	0.18967	-1.0320	10	0.66056	D	0.02	-7.8148	9.864	0.41131	0.192:0.0:0.808:0.0	.	404;404	A4FU32;Q9UJ14	.;GGT7_HUMAN	V	404	ENSP00000338964:A404V	ENSP00000338964:A404V	A	-	2	0	GGT7	32906279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.491000	0.60326	1.585000	0.49928	-0.136000	0.14681	GCT		0.567	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2		NM_178026		7	94	0	0	0	0.00308	0	7	94		
SERINC3	10955	broad.mit.edu	37	20	43133481	43133481	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr20:43133481T>C	ENST00000342374.4	-	7	992	c.835A>G	c.(835-837)Act>Gct	p.T279A	SERINC3_ENST00000255175.1_Missense_Mutation_p.T279A|SERINC3_ENST00000541235.1_Missense_Mutation_p.T224A	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	279					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			AGGTACATAGTGTAGAGGGTG	0.478																																						uc002xme.2		NaN																	0				skin(3)	3						c.(835-837)ACT>GCT		tumor differentially expressed protein 1							140.0	120.0	127.0					20																	43133481		2203	4300	6503	SO:0001583	missense	10955					integral to membrane|plasma membrane	protein binding	g.chr20:43133481T>C	U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.835A>G	20.37:g.43133481T>C	ENSP00000340243:p.Thr279Ala					SERINC3_uc002xmf.1_Missense_Mutation_p.T279A|SERINC3_uc010ggs.1_Missense_Mutation_p.T272A|SERINC3_uc010zwp.1_Missense_Mutation_p.T224A	p.T279A	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)		7	969	-		Myeloproliferative disorder(115;0.0122)	279			Cytoplasmic (Potential).		B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	ENST00000342374.4	37	c.835A>G	CCDS13333.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.245242	0.80024	.	.	ENSG00000132824	ENST00000411544;ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.34	5.34	0.76211	.	0.182464	0.64402	D	0.000017	T	0.35624	0.0938	M	0.81802	2.56	0.80722	D	1	B;D	0.55800	0.372;0.973	B;P	0.60068	0.34;0.868	T	0.08680	-1.0710	10	0.33141	T	0.24	.	15.4805	0.75521	0.0:0.0:0.0:1.0	.	279;279	Q53GK8;Q13530	.;SERC3_HUMAN	A	18;279;279;246;224	ENSP00000414197:T18A;ENSP00000255175:T279A;ENSP00000340243:T279A;ENSP00000440966:T224A	ENSP00000255175:T279A	T	-	1	0	SERINC3	42566895	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.000000	0.70678	2.233000	0.73108	0.482000	0.46254	ACT		0.478	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080544.3		NM_006811		7	49	0	0	0	0.00308	0	7	49		
MATN4	8785	broad.mit.edu	37	20	43929794	43929794	+	Silent	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr20:43929794C>A	ENST00000372754.1	-	5	968	c.960G>T	c.(958-960)cgG>cgT	p.R320R	MATN4_ENST00000360607.6_Silent_p.R238R|MATN4_ENST00000372751.4_Silent_p.R130R|MATN4_ENST00000353917.5_Intron|MATN4_ENST00000342716.4_Silent_p.R279R|MATN4_ENST00000372756.1_Silent_p.R279R|MATN4_ENST00000537548.1_Silent_p.R279R			O95460	MATN4_HUMAN	matrilin 4	320	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TGCAGTGGCACCGTGGCCCAC	0.557											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xnn.2		NaN																	0					0						c.(835-837)CGG>CGT		matrilin 4 isoform 1 precursor							70.0	64.0	66.0					20																	43929794		2203	4300	6503	SO:0001819	synonymous_variant	8785					extracellular region	protein binding	g.chr20:43929794C>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.960G>T	20.37:g.43929794C>A			OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	920	MATN4_uc002xno.2_Silent_p.R238R|MATN4_uc002xnp.2_Intron|MATN4_uc010zwr.1_Silent_p.R227R|MATN4_uc002xnr.1_Silent_p.R279R	p.R279R	NM_003833	NP_003824	O95460	MATN4_HUMAN			5	1024	-		Myeloproliferative disorder(115;0.0122)	320			EGF-like 3.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP	ENST00000372754.1	37	c.837G>T																																																																																					0.557	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1				14	94	1	0	1.49906e-05	0.00245	1.55075e-05	14	94		
CEBPB	1051	broad.mit.edu	37	20	48807640	48807640	+	Missense_Mutation	SNP	A	A	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr20:48807640A>G	ENST00000303004.3	+	1	265	c.70A>G	c.(70-72)Atg>Gtg	p.M24V		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	24	Required for Lys-174 sumoylation.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cellular response to amino acid stimulus (GO:0071230)|embryonic placenta development (GO:0001892)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary gland epithelial cell differentiation (GO:0060644)|mammary gland epithelial cell proliferation (GO:0033598)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|response to lipopolysaccharide (GO:0032496)|transcription from RNA polymerase II promoter (GO:0006366)	condensed chromosome, centromeric region (GO:0000779)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			CTTTAAATCCATGGAAGTGGC	0.736																																						uc002xvi.1		NaN																	0					0						c.(70-72)ATG>GTG		CCAAT/enhancer binding protein beta							7.0	9.0	8.0					20																	48807640		1784	3569	5353	SO:0001583	missense	1051				acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr20:48807640A>G	AY193834	CCDS13429.1	20q13.1	2013-01-10			ENSG00000172216	ENSG00000172216		"""basic leucine zipper proteins"""	1834	protein-coding gene	gene with protein product	"""liver-enriched transcriptional activator protein"", ""nuclear factor of interleukin 6"", ""interleukin 6-dependent DNA-binding protein"""	189965		TCF5		1535333, 1840554	Standard	NM_005194		Approved	LAP, CRP2, NFIL6, IL6DBP, C/EBP-beta	uc002xvi.2	P17676	OTTHUMG00000032715	ENST00000303004.3:c.70A>G	20.37:g.48807640A>G	ENSP00000305422:p.Met24Val					CEBPB_uc002xvh.2_RNA	p.M24V	NM_005194	NP_005185	P17676	CEBPB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)		1	265	+			24			Required for Lys-174 sumoylation.		A8K671|Q96IH2|Q9H4Z5	Missense_Mutation	SNP	ENST00000303004.3	37	c.70A>G	CCDS13429.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.028128	0.54790	.	.	ENSG00000172216	ENST00000303004	T	0.41065	1.01	3.23	3.23	0.37069	.	0.179052	0.38605	U	0.001640	T	0.47451	0.1446	L	0.34521	1.04	0.58432	D	0.999998	P	0.52842	0.956	P	0.62184	0.899	T	0.39702	-0.9601	10	0.40728	T	0.16	-5.1867	11.6962	0.51544	1.0:0.0:0.0:0.0	.	24	P17676	CEBPB_HUMAN	V	24	ENSP00000305422:M24V	ENSP00000305422:M24V	M	+	1	0	CEBPB	48241047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.364000	0.73086	1.356000	0.45884	0.402000	0.26972	ATG		0.736	CEBPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079672.1		NM_005194		3	26	0	0	0	0.009096	0	3	26		
LSM14B	149986	broad.mit.edu	37	20	60706547	60706547	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr20:60706547C>T	ENST00000279068.6	+	7	1131	c.971C>T	c.(970-972)tCt>tTt	p.S324F	LSM14B_ENST00000253001.4_Missense_Mutation_p.S324F	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	324					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			AACATCTCTTCTGAACTCAAG	0.552																																						uc010gjy.1		NaN																	0					0						c.(970-972)TCT>TTT		LSM14 homolog B							69.0	72.0	71.0					20																	60706547		2036	4202	6238	SO:0001583	missense	149986				multicellular organismal development|regulation of translation	ribonucleoprotein complex		g.chr20:60706547C>T	AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)"""	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.971C>T	20.37:g.60706547C>T	ENSP00000279068:p.Ser324Phe					LSM14B_uc002ybv.2_Missense_Mutation_p.S298F|LSM14B_uc010zzz.1_Missense_Mutation_p.S244F	p.S324F	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		7	1177	+	Breast(26;3.97e-09)		324			FFD box.		Q6PFW8|Q96LH8	Missense_Mutation	SNP	ENST00000279068.6	37	c.971C>T	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413737	0.83449	.	.	ENSG00000149657	ENST00000279068;ENST00000253001;ENST00000361670	T;T;T	0.56611	0.65;0.56;0.45	5.26	5.26	0.73747	FFD/TFG box motif (1);	0.000000	0.85682	D	0.000000	T	0.78117	0.4233	M	0.88377	2.95	0.53688	D	0.999971	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.998;0.998;0.988	T	0.82133	-0.0608	10	0.87932	D	0	.	18.6639	0.91481	0.0:1.0:0.0:0.0	.	244;324;324	E9PG81;Q9BX40;Q9BX40-2	.;LS14B_HUMAN;.	F	324;324;244	ENSP00000279068:S324F;ENSP00000253001:S324F;ENSP00000355209:S244F	ENSP00000253001:S324F	S	+	2	0	LSM14B	60139942	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.796000	0.69080	2.735000	0.93741	0.561000	0.74099	TCT		0.552	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4		NM_144703		3	39	0	0	0	0.009096	0	3	39		
COL9A3	1299	broad.mit.edu	37	20	61458604	61458604	+	Silent	SNP	C	C	T	rs372387045		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr20:61458604C>T	ENST00000343916.3	+	16	807	c.804C>T	c.(802-804)ggC>ggT	p.G268G		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	268	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GTGACCGAGGCGAGAGGGGCC	0.632																																						uc002ydm.2		NaN																	0					0						c.(802-804)GGC>GGT		alpha 3 type IX collagen precursor		C		1,4401	2.1+/-5.4	0,1,2200	55.0	60.0	58.0		804	-3.7	0.9	20		58	0,8600		0,0,4300	no	coding-synonymous	COL9A3	NM_001853.3		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		268/685	61458604	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	1299				axon guidance	collagen type IX		g.chr20:61458604C>T	AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.804C>T	20.37:g.61458604C>T							p.G268G	NM_001853	NP_001844	Q14050	CO9A3_HUMAN			16	807	+	Breast(26;5.68e-08)		268			Triple-helical region 3 (COL3).		Q13681|Q9H4G9|Q9UPE2	Silent	SNP	ENST00000343916.3	37	c.804C>T	CCDS13505.1																																																																																				0.632	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080071.2		NM_001853		8	56	0	0	0	0.004482	0	8	56		
RWDD2B	10069	broad.mit.edu	37	21	30380277	30380277	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr21:30380277C>A	ENST00000493196.1	-	4	630	c.530G>T	c.(529-531)gGa>gTa	p.G177V	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	177										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						GACTGTGCTTCCTGTGGTGGG	0.443																																						uc002yms.2		NaN																	0					0						c.(529-531)GGA>GTA		RWD domain containing 2B							128.0	116.0	120.0					21																	30380277		2203	4300	6503	SO:0001583	missense	10069							g.chr21:30380277C>A	AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 6"""	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.530G>T	21.37:g.30380277C>A	ENSP00000418693:p.Gly177Val					RWDD2B_uc002ymt.2_Missense_Mutation_p.G148V|RWDD2B_uc002ymu.2_RNA|RWDD2B_uc002ymv.2_Missense_Mutation_p.G97V	p.G177V	NM_016940	NP_058636	P57060	RWD2B_HUMAN			4	617	-			177						Missense_Mutation	SNP	ENST00000493196.1	37	c.530G>T	CCDS13582.1	.	.	.	.	.	.	.	.	.	.	C	2.747	-0.261001	0.05791	.	.	ENSG00000156253	ENST00000493196	.	.	.	5.41	-6.11	0.02131	.	0.879913	0.10241	N	0.698416	T	0.14743	0.0356	N	0.14661	0.345	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.12156	0.007;0.006	T	0.19321	-1.0309	9	0.28530	T	0.3	-15.4742	3.5225	0.07747	0.0821:0.2487:0.348:0.3212	.	177;177	Q53FD2;P57060	.;RWD2B_HUMAN	V	177	.	ENSP00000418693:G177V	G	-	2	0	RWDD2B	29302148	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.102000	0.10956	-0.903000	0.03881	-0.182000	0.12963	GGA		0.443	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1				23	64	1	0	2.21704e-12	0.00278	2.41232e-12	23	64		
KRTAP10-2	386679	broad.mit.edu	37	21	45971299	45971299	+	Missense_Mutation	SNP	T	T	C	rs233240	byFrequency	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr21:45971299T>C	ENST00000391621.1	-	1	89	c.43A>G	c.(43-45)Aac>Gac	p.N15D	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_5'UTR	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	15			N -> D (in dbSNP:rs233240). {ECO:0000269|PubMed:15028290}.			keratin filament (GO:0045095)		p.N15D(1)		large_intestine(1)|lung(4)|skin(1)	6						TGCCAGGAGTTGGTGCAGGCG	0.667													T|||	1085	0.216653	0.1725	0.1527	5008	,	,		17203	0.371		0.2068	False		,,,				2504	0.1728					uc002zfi.1		NaN																	1	Substitution - Missense(1)	p.N15D(1)	large_intestine(1)	large_intestine(1)	1						c.(43-45)AAC>GAC		keratin associated protein 10-2		T	,ASP/ASN	761,3645	309.4+/-291.0	65,631,1507	81.0	86.0	84.0		,43	-1.0	0.0	21	dbSNP_79	84	1692,6908	310.1+/-309.7	158,1376,2766	no	intron,missense	TSPEAR,KRTAP10-2	NM_144991.2,NM_198693.2	,23	223,2007,4273	CC,CT,TT		19.6744,17.2719,18.8605	,benign	,15/256	45971299	2453,10553	2203	4300	6503	SO:0001583	missense	386679					keratin filament		g.chr21:45971299T>C	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.43A>G	21.37:g.45971299T>C	ENSP00000375479:p.Asn15Asp					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.N15D	NM_198693	NP_941966	P60368	KR102_HUMAN			1	90	-			15					Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	c.43A>G	CCDS42955.1	531	0.24313186813186813	81	0.16463414634146342	60	0.16574585635359115	218	0.3811188811188811	172	0.22691292875989447	t	0.005	-2.231254	0.00280	0.172719	0.196744	ENSG00000205445	ENST00000391621	T	0.14640	2.49	3.46	-1.05	0.10036	.	.	.	.	.	T	0.00012	0.0000	N	0.00355	-1.605	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.38457	-0.9660	8	0.02654	T	1	.	3.6264	0.08114	0.0:0.4225:0.1919:0.3855	rs233240;rs620443;rs59814995	15	P60368	KR102_HUMAN	D	15	ENSP00000375479:N15D	ENSP00000375479:N15D	N	-	1	0	KRTAP10-2	44795727	0.000000	0.05858	0.001000	0.08648	0.064000	0.16182	0.100000	0.15231	-0.801000	0.04427	-0.814000	0.03130	AAC		0.667	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1				5	88	0	0	0	0.001168	0	5	88		
ITGB2	3689	broad.mit.edu	37	21	46314945	46314945	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr21:46314945C>T	ENST00000397850.2	-	10	1476	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	ITGB2_ENST00000355153.4_Missense_Mutation_p.V342M|ITGB2_ENST00000302347.5_Missense_Mutation_p.V342M|ITGB2_ENST00000397852.1_Missense_Mutation_p.V342M|ITGB2_ENST00000397857.1_Missense_Mutation_p.V342M|ITGB2_ENST00000397854.3_Missense_Mutation_p.V285M			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	342	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGCTCCCCCACGGCTGACTTG	0.577																																						uc002zgd.2		NaN																	0				ovary(4)|central_nervous_system(3)|breast(2)	9						c.(1024-1026)GTG>ATG		integrin, beta 2 precursor	Simvastatin(DB00641)						119.0	97.0	105.0					21																	46314945		2203	4300	6503	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46314945C>T	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1024G>A	21.37:g.46314945C>T	ENSP00000380948:p.Val342Met					ITGB2_uc002zge.2_Missense_Mutation_p.V342M|ITGB2_uc002zgf.3_Missense_Mutation_p.V342M|ITGB2_uc011afl.1_Missense_Mutation_p.V264M|ITGB2_uc010gpw.2_Missense_Mutation_p.V285M|ITGB2_uc002zgg.2_Missense_Mutation_p.V342M	p.V342M	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	8	1068	-			342			Extracellular (Potential).|VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.1024G>A	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571456	0.45798	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000545414	D;D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32;-3.32	5.28	4.4	0.53042	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	.	.	.	.	D	0.96661	0.8910	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70227	0.968;0.964	D	0.96823	0.9605	9	0.87932	D	0	.	11.7099	0.51618	0.0:0.9133:0.0:0.0867	.	285;342	A8MYE6;P05107	.;ITB2_HUMAN	M	342;342;285;342;342;342;285	ENSP00000380950:V342M;ENSP00000380955:V342M;ENSP00000380952:V285M;ENSP00000347279:V342M;ENSP00000380948:V342M;ENSP00000303242:V342M	ENSP00000303242:V342M	V	-	1	0	ITGB2	45139373	1.000000	0.71417	0.087000	0.20705	0.072000	0.16883	7.127000	0.77210	1.244000	0.43870	-0.236000	0.12185	GTG		0.577	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2		NM_000211		18	26	0	0	0	0.006122	0	18	26		
SNAP29	9342	broad.mit.edu	37	22	21224644	21224644	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr22:21224644G>C	ENST00000215730.7	+	2	385	c.257G>C	c.(256-258)gGa>gCa	p.G86A		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	86					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			CGTCAGCGAGGAGTCCTGGAG	0.557																																						uc011ahw.1		NaN																	0					0						c.(256-258)GGA>GCA		synaptosomal-associated protein 29							97.0	87.0	91.0					22																	21224644		2203	4300	6503	SO:0001583	missense	9342				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity	g.chr22:21224644G>C	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"""soluble 29 kDa NSF attachment protein"""	604202	"""synaptosomal-associated protein, 29kD"""			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.257G>C	22.37:g.21224644G>C	ENSP00000215730:p.Gly86Ala						p.G86A	NM_004782	NP_004773	O95721	SNP29_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)		2	364	+	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	86			Potential.			Missense_Mutation	SNP	ENST00000215730.7	37	c.257G>C	CCDS13784.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798866	0.70567	.	.	ENSG00000099940	ENST00000215730	T	0.76186	-1.0	5.58	5.58	0.84498	Target SNARE coiled-coil domain (1);	0.049980	0.85682	D	0.000000	T	0.68897	0.3051	L	0.36672	1.1	0.45261	D	0.998267	D	0.53462	0.96	P	0.49252	0.604	T	0.71712	-0.4510	10	0.72032	D	0.01	-19.2991	7.2927	0.26374	0.2024:0.0:0.7976:0.0	.	86	O95721	SNP29_HUMAN	A	86	ENSP00000215730:G86A	ENSP00000215730:G86A	G	+	2	0	SNAP29	19554644	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.505000	0.81655	2.625000	0.88918	0.591000	0.81541	GGA		0.557	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4		NM_004782		20	102	0	0	0	0.008871	0	20	102		
SEC14L3	266629	broad.mit.edu	37	22	30858094	30858094	+	Silent	SNP	C	C	T	rs146711095		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr22:30858094C>T	ENST00000215812.4	-	9	840	c.750G>A	c.(748-750)ggG>ggA	p.G250G	SEC14L3_ENST00000403066.1_Silent_p.G191G|SEC14L3_ENST00000401751.1_Silent_p.G191G|SEC14L3_ENST00000539629.1_Silent_p.G191G|SEC14L3_ENST00000540910.1_Silent_p.G173G|SEC14L3_ENST00000402286.1_Silent_p.G173G|SEC14L3_ENST00000415957.2_Silent_p.G191G	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	250						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	ATTTGGGGTTCCCATCTGGGT	0.507																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	uc003ahy.2		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(748-750)GGG>GGA		SEC14-like 3	Vitamin E(DB00163)	C		0,4406		0,0,2203	89.0	80.0	83.0		750	-3.3	0.9	22	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SEC14L3	NM_174975.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		250/401	30858094	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30858094C>T	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.750G>A	22.37:g.30858094C>T						SEC14L3_uc003ahz.2_Silent_p.G173G|SEC14L3_uc003aia.2_Silent_p.G191G|SEC14L3_uc003aib.2_Silent_p.G191G	p.G250G	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN			9	839	-			250					E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000215812.4	37	c.750G>A	CCDS13877.1	.	.	.	.	.	.	.	.	.	.	C	9.509	1.105175	0.20632	0.0	1.16E-4	ENSG00000100012	ENST00000435069	T	0.27104	1.69	5.63	-3.35	0.04928	.	0.000000	0.85682	D	0.000000	T	0.28234	0.0697	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.11767	-1.0574	7	0.87932	D	0	-28.0926	4.3665	0.11227	0.0953:0.3472:0.094:0.4635	.	.	.	.	E	216	ENSP00000402986:G216E	ENSP00000402986:G216E	G	-	2	0	SEC14L3	29188094	0.046000	0.20272	0.934000	0.37439	0.973000	0.67179	-0.782000	0.04643	-0.846000	0.04174	-0.797000	0.03246	GGA		0.507	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4		NM_174975		5	34	0	0	0	0.000602	0	5	34		
BRPF1	7862	broad.mit.edu	37	3	9781381	9781381	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:9781381G>A	ENST00000457855.1	+	2	1309	c.1298G>A	c.(1297-1299)gGc>gAc	p.G433D	BRPF1_ENST00000433861.2_Missense_Mutation_p.G433D|BRPF1_ENST00000424362.1_Missense_Mutation_p.G433D|BRPF1_ENST00000383829.2_Missense_Mutation_p.G433D|BRPF1_ENST00000302054.3_Missense_Mutation_p.G433D			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	433					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GGCGCCAACGGCACCTCTTTC	0.607																																						uc003bse.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1297-1299)GGC>GAC		bromodomain and PHD finger-containing protein 1							50.0	47.0	48.0					3																	9781381		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9781381G>A	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1298G>A	3.37:g.9781381G>A	ENSP00000410210:p.Gly433Asp					BRPF1_uc003bsf.2_Missense_Mutation_p.G433D|BRPF1_uc003bsg.2_Missense_Mutation_p.G433D|BRPF1_uc011ati.1_Missense_Mutation_p.G433D	p.G433D	NM_004634	NP_004625	P55201	BRPF1_HUMAN			3	1697	+	Medulloblastoma(99;0.227)		433					B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.1298G>A	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738147	0.89573	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.19938	2.14;2.11;3.5;2.11;2.11	6.04	6.04	0.98038	Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.49406	0.1555	M	0.74467	2.265	0.80722	D	1	D;P;P;D	0.63880	0.991;0.746;0.562;0.993	D;P;B;D	0.71870	0.944;0.614;0.413;0.975	T	0.22661	-1.0210	10	0.40728	T	0.16	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	433;433;433;433	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	D	433	ENSP00000402485:G433D;ENSP00000398863:G433D;ENSP00000373340:G433D;ENSP00000306297:G433D;ENSP00000410210:G433D	ENSP00000306297:G433D	G	+	2	0	BRPF1	9756381	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.467000	0.97671	2.873000	0.98535	0.561000	0.74099	GGC		0.607	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1		NM_001003694		5	42	0	0	0	0.000602	0	5	42		
PLCL2	23228	broad.mit.edu	37	3	17052785	17052785	+	Silent	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:17052785T>C	ENST00000418129.2	+	2	2034	c.1569T>C	c.(1567-1569)aaT>aaC	p.N523N	PLCL2_ENST00000432376.1_Silent_p.N523N|PLCL2_ENST00000396755.2_Silent_p.N523N	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	649	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GTTCCTTTAATGAAGTGCTTG	0.413																																						uc011awc.1		NaN																	0				skin(2)|ovary(1)|lung(1)	4						c.(1921-1923)AAT>AAC		phospholipase C-like 2 isoform 1							102.0	107.0	105.0					3																	17052785		2203	4300	6503	SO:0001819	synonymous_variant	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17052785T>C	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.1569T>C	3.37:g.17052785T>C						PLCL2_uc011awd.1_Silent_p.N523N	p.N641N	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN			5	2028	+			649			PI-PLC Y-box.		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Silent	SNP	ENST00000418129.2	37	c.1923T>C	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	T	1.427	-0.571293	0.03882	.	.	ENSG00000154822	ENST00000419842	.	.	.	5.63	-2.81	0.05805	.	.	.	.	.	T	0.51312	0.1667	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46978	-0.9152	4	.	.	.	.	7.7975	0.29156	0.0948:0.3047:0.0:0.6005	.	.	.	.	T	267	.	.	M	+	2	0	PLCL2	17027789	0.004000	0.15560	0.876000	0.34364	0.740000	0.42216	-1.139000	0.03213	-0.426000	0.07360	-0.256000	0.11100	ATG		0.413	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3				11	54	0	0	0	0.00245	0	11	54		
CTNNB1	1499	broad.mit.edu	37	3	41266097	41266097	+	Missense_Mutation	SNP	G	G	C	rs28931588|rs121913416|rs121913417		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:41266097G>C	ENST00000349496.5	+	3	374	c.94G>C	c.(94-96)Gac>Cac	p.D32H	CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|D -> G (in PTR and hepatocellular carcinoma). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629}.|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:11703283, ECO:0000269|PubMed:9927029}.|Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.D32Y(128)|p.D32N(82)|p.A5_A80del(53)|p.D32H(40)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D32fs*9(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GTCTTACCTGGACTCTGGAAT	0.478	D32N(KE39_STOMACH)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	uc010hia.1	D32N(KE39_STOMACH)	15		Dom	yes		3	3p22-p21.3	1499	H|Mis|T	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	397	Substitution - Missense(250)|Deletion - In frame(120)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)|Complex - frameshift(1)	p.D32Y(110)|p.A5_A80del(63)|p.D32N(58)|p.D32G(53)|p.D32H(37)|p.D32V(20)|p.D32A(12)|p.H24_S47del(9)|p.A5_A80>D(7)|p.A5_Q143del(7)|p.WQQQSYLD25?(5)|p.Q28_H134del(5)|p.W25_D32del(4)|p.W25_I140del(4)|p.S23_S33del(3)|p.V22_G38del(3)|p.T3_A126del(2)|p.M5_N141>D(2)|p.D32E(2)|p.D32_S47del(2)|p.W25_H36del(2)|p.Y30_S33del(2)|p.V22_S33del(2)|p.V22_L139>V(2)|p.A5_Y142>D(2)|p.A5fs*7(2)|p.?(2)|p.L10_N141del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.Q28_Q61del(1)|p.A20_R151del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S29_H36del(1)|p.Y30_A97del(1)|p.A20_A80del(1)|p.Q28_A43del(1)|p.E15_I140>V(1)|p.D17_P128del(1)|p.H24_M131del(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.W25_I35del(1)|p.V22_G80>NNNNN(1)|p.A5_I35del(1)|p.A20_Q143del(1)|p.A13_R151del(1)|p.D32del(1)|p.S23_I140del(1)|p.M1_A87del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.S23_A39del(1)|p.A21_A80del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M14_S45del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.D32_H36>D(1)|p.P16_K133del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.A5_R90del(1)|p.V22_Y64del(1)|p.M8_A80del(1)|p.E9_I140del(1)|p.D32_S33insS(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.A5_Q143>E(1)|p.A5_Q72del(1)|p.Q28_D32>H(1)|p.Y30_A80del(1)|p.D32fs*9(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.A5_T40del(1)|p.D17_A126del(1)|p.A5_E54del(1)|p.S23_I35del(1)|p.V22_S71>A(1)|p.W25_A80del(1)|p.A20_Q72del(1)|p.A20_S111del(1)|p.D32_H36del(1)	liver(155)|central_nervous_system(55)|endometrium(40)|stomach(36)|pancreas(28)|large_intestine(22)|pituitary(22)|skin(11)|ovary(9)|soft_tissue(4)|prostate(4)|small_intestine(2)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|adrenal_gland(1)|biliary_tract(1)|urinary_tract(1)|lung(1)|NS(1)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166						c.(94-96)GAC>CAC		beta-catenin	Lithium(DB01356)						92.0	77.0	82.0					3																	41266097		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma_Familial_Clustering_of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266097G>C	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.94G>C	3.37:g.41266097G>C	ENSP00000344456:p.Asp32His					CTNNB1_uc003ckp.2_Missense_Mutation_p.D32H|CTNNB1_uc003ckq.2_Missense_Mutation_p.D32H|CTNNB1_uc003ckr.2_Missense_Mutation_p.D32H|CTNNB1_uc011azf.1_Missense_Mutation_p.D25H|CTNNB1_uc011azg.1_Intron|uc010hib.1_RNA	p.D32H	NM_001904	NP_001895	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	4	250	+			32		Missing (in hepatocellular carcinoma).|D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.94G>C	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566795	0.86439	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.71813	0.3384	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.74003	-0.3804	10	0.87932	D	0	0.3843	19.9596	0.97236	0.0:0.0:1.0:0.0	.	32	P35222	CTNB1_HUMAN	H	25;32;32;32;32;25;32;32;32	ENSP00000400508:D25H;ENSP00000385604:D32H;ENSP00000412219:D32H;ENSP00000379486:D32H;ENSP00000344456:D32H;ENSP00000411226:D25H;ENSP00000379488:D32H;ENSP00000409302:D32H;ENSP00000401599:D32H	ENSP00000344456:D32H	D	+	1	0	CTNNB1	41241101	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.726000	0.93360	0.655000	0.94253	GAC		0.478	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2		NM_001098210		5	26	0	0	0	0.001168	0	5	26		
NKTR	4820	broad.mit.edu	37	3	42678866	42678866	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:42678866C>T	ENST00000232978.8	+	13	1858	c.1670C>T	c.(1669-1671)tCt>tTt	p.S557F	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	557	Arg/Ser-rich.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AGTTCCAAGTCTGGGCACCGA	0.413																																						uc003clo.2		NaN																	0				ovary(2)|skin(1)	3						c.(1669-1671)TCT>TTT		natural killer-tumor recognition sequence							82.0	89.0	86.0					3																	42678866		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42678866C>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1670C>T	3.37:g.42678866C>T	ENSP00000232978:p.Ser557Phe					NKTR_uc003clm.1_Missense_Mutation_p.S304F|NKTR_uc003clp.2_Missense_Mutation_p.S304F|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.S447F|NKTR_uc003clr.1_Missense_Mutation_p.S304F|NKTR_uc003cls.2_Missense_Mutation_p.S257F	p.S557F	NM_005385	NP_005376	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	1817	+			557			Arg/Ser-rich.			Missense_Mutation	SNP	ENST00000232978.8	37	c.1670C>T	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276402	0.40294	.	.	ENSG00000114857	ENST00000232978	T	0.15487	2.42	5.65	4.78	0.61160	.	0.188353	0.47852	D	0.000211	T	0.30448	0.0765	L	0.53249	1.67	0.80722	D	1	P;P	0.46327	0.876;0.804	P;P	0.53146	0.719;0.528	T	0.03184	-1.1063	10	0.87932	D	0	-3.0671	14.5964	0.68410	0.0:0.9297:0.0:0.0703	.	257;557	Q6M1B8;P30414	.;NKTR_HUMAN	F	557	ENSP00000232978:S557F	ENSP00000232978:S557F	S	+	2	0	NKTR	42653870	1.000000	0.71417	0.965000	0.40720	0.622000	0.37654	5.732000	0.68563	1.399000	0.46721	0.491000	0.48974	TCT		0.413	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2		NM_005385		12	57	0	0	0	0.013537	0	12	57		
CYP8B1	1582	broad.mit.edu	37	3	42917227	42917227	+	Missense_Mutation	SNP	G	G	A	rs373922271		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:42917227G>A	ENST00000316161.4	-	1	406	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.R28C|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	28					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)	p.R28C(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CATGGCCTGCGTTGTCGGAGC	0.582																																						uc003cmh.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)	2						c.(82-84)CGC>TGC		cytochrome P450, family 8, subfamily B,		G	CYS/ARG	1,4403	2.1+/-5.4	0,1,2201	42.0	42.0	42.0		82	2.9	0.0	3		42	0,8600		0,0,4300	no	missense	CYP8B1	NM_004391.2	180	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	28/502	42917227	1,13003	2202	4300	6502	SO:0001583	missense	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42917227G>A	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.82C>T	3.37:g.42917227G>A	ENSP00000318867:p.Arg28Cys					CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.R28C	p.R28C	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	407	-			28					B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	c.82C>T	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623679	0.28889	2.27E-4	0.0	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.76709	-0.6;-1.04	4.89	2.9	0.33743	.	0.185412	0.41712	N	0.000825	T	0.71904	0.3395	N	0.08118	0	0.22342	N	0.999182	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.60306	-0.7289	10	0.87932	D	0	-13.6822	5.9977	0.19503	0.0987:0.0:0.5908:0.3105	.	28;28	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	C	28	ENSP00000404499:R28C;ENSP00000318867:R28C	ENSP00000318867:R28C	R	-	1	0	CYP8B1	42892231	0.003000	0.15002	0.029000	0.17559	0.142000	0.21351	0.931000	0.28871	1.276000	0.44395	0.561000	0.74099	CGC		0.582	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1		NM_004391		9	64	0	0	0	0.006214	0	9	64		
KIF15	56992	broad.mit.edu	37	3	44867652	44867652	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:44867652G>C	ENST00000326047.4	+	21	2820	c.2671G>C	c.(2671-2673)Gaa>Caa	p.E891Q	KIF15_ENST00000425755.1_Missense_Mutation_p.E526Q	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	891					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		CTTCAAAAAAGAAAATGAAAC	0.378																																						uc003cnx.3		NaN																	0				ovary(1)	1						c.(2671-2673)GAA>CAA		kinesin family member 15							104.0	118.0	113.0					3																	44867652		2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44867652G>C	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.2671G>C	3.37:g.44867652G>C	ENSP00000324020:p.Glu891Gln					KIF15_uc010hiq.2_Missense_Mutation_p.E794Q|KIF15_uc010hir.2_5'UTR	p.E891Q	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	21	2820	+			891			Potential.		Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.2671G>C	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145419	0.77888	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	T;T;T	0.54675	0.56;0.56;0.56	5.72	5.72	0.89469	.	0.125786	0.34986	N	0.003535	T	0.69124	0.3076	M	0.61703	1.905	0.45541	D	0.99849	D	0.65815	0.995	D	0.63381	0.914	T	0.67546	-0.5643	10	0.46703	T	0.11	.	18.6475	0.91416	0.0:0.0:1.0:0.0	.	891	Q9NS87	KIF15_HUMAN	Q	891;663;890;526	ENSP00000324020:E891Q;ENSP00000425499:E663Q;ENSP00000389982:E526Q	ENSP00000324020:E891Q	E	+	1	0	KIF15	44842656	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	6.690000	0.74567	2.709000	0.92574	0.591000	0.81541	GAA		0.378	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2				26	42	0	0	0	0.004656	0	26	42		
GNAT1	2779	broad.mit.edu	37	3	50231561	50231561	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:50231561G>C	ENST00000433068.1	+	6	671	c.615G>C	c.(613-615)aaG>aaC	p.K205N	GNAT1_ENST00000481246.1_3'UTR|GNAT1_ENST00000232461.3_Missense_Mutation_p.K205N	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	205					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CGGAGCGCAAGAAGTGGATCC	0.667																																						uc003cym.2		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(613-615)AAG>AAC		rod-type transducin alpha subunit							61.0	57.0	58.0					3																	50231561		2203	4300	6503	SO:0001583	missense	2779				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity	g.chr3:50231561G>C		CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.615G>C	3.37:g.50231561G>C	ENSP00000387555:p.Lys205Asn					GNAT1_uc003cyl.2_Missense_Mutation_p.K205N	p.K205N	NM_144499	NP_653082	P11488	GNAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	6	731	+			205					Q4VBN2	Missense_Mutation	SNP	ENST00000433068.1	37	c.615G>C	CCDS2812.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789288	0.90367	.	.	ENSG00000114349	ENST00000232461;ENST00000433068	D;D	0.90444	-2.67;-2.67	4.49	1.6	0.23607	.	0.095040	0.64402	D	0.000001	D	0.94348	0.8183	M	0.90425	3.115	0.58432	D	0.999996	D	0.56968	0.978	P	0.61132	0.884	D	0.93328	0.6698	10	0.87932	D	0	.	8.7729	0.34745	0.2711:0.0:0.7289:0.0	.	205	P11488	GNAT1_HUMAN	N	205	ENSP00000232461:K205N;ENSP00000387555:K205N	ENSP00000232461:K205N	K	+	3	2	GNAT1	50206565	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.120000	0.57897	0.522000	0.28464	0.561000	0.74099	AAG		0.667	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1		NM_000172		14	16	0	0	0	0.004007	0	14	16		
BAP1	8314	broad.mit.edu	37	3	52436687	52436687	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:52436687C>G	ENST00000460680.1	-	16	2458	c.1987G>C	c.(1987-1989)Gat>Cat	p.D663H	BAP1_ENST00000296288.5_Missense_Mutation_p.D645H	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTCTGGTCATCAATCTGTAGG	0.527			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	uc003ddx.2		NaN		Rec	yes		3	3p21.31-p21.2	8314	N|Mis|F|S|O	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E			uveal melanoma|breast|NSCLC		0				pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65						c.(1987-1989)GAT>CAT		BRCA1 associated protein-1							170.0	160.0	163.0					3																	52436687		2203	4300	6503	SO:0001583	missense	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52436687C>G	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1987G>C	3.37:g.52436687C>G	ENSP00000417132:p.Asp663His					BAP1_uc003ddw.2_RNA|BAP1_uc010hmg.2_RNA|BAP1_uc010hmh.2_RNA	p.D663H	NM_004656	NP_004647	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	16	2102	-			663			Interaction with BRCA1.		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	c.1987G>C	CCDS2853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.43|18.43	3.623119|3.623119	0.66901|0.66901	.|.	.|.	ENSG00000163930|ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000478368|ENST00000469613	T;T;T|.	0.52295|.	0.67;0.67;0.67|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74935|0.74935	0.3782|0.3782	M|M	0.64170|0.64170	1.965|1.965	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.81914|.	0.995|.	T|T	0.71351|0.71351	-0.4619|-0.4619	10|5	0.87932|.	D|.	0|.	.|.	20.1011|20.1011	0.97876|0.97876	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	663|.	Q92560|.	BAP1_HUMAN|.	H|F	663;645;187|62	ENSP00000417132:D663H;ENSP00000296288:D645H;ENSP00000420647:D187H|.	ENSP00000296288:D645H|.	D|L	-|-	1|3	0|2	BAP1|BAP1	52411727|52411727	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.547000|0.547000	0.35210|0.35210	7.780000|7.780000	0.85658|0.85658	2.764000|2.764000	0.94973|0.94973	0.491000|0.491000	0.48974|0.48974	GAT|TTG		0.527	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1				32	3	0	0	0	0.012213	0	32	3		
BAP1	8314	broad.mit.edu	37	3	52436810	52436810	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:52436810C>G	ENST00000460680.1	-	15	2439	c.1968G>C	c.(1966-1968)aaG>aaC	p.K656N	BAP1_ENST00000296288.5_Missense_Mutation_p.K638N	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		ACTTCTTCCTCTTCTCTACCT	0.557			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	uc003ddx.2		NaN		Rec	yes		3	3p21.31-p21.2	8314	N|Mis|F|S|O	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E			uveal melanoma|breast|NSCLC		0				pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65						c.(1966-1968)AAG>AAC		BRCA1 associated protein-1							227.0	212.0	217.0					3																	52436810		2203	4300	6503	SO:0001583	missense	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52436810C>G	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1968G>C	3.37:g.52436810C>G	ENSP00000417132:p.Lys656Asn					BAP1_uc003ddw.2_RNA|BAP1_uc010hmg.2_RNA|BAP1_uc010hmh.2_RNA	p.K656N	NM_004656	NP_004647	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	15	2083	-			656	KRKKFK->AAAAAA: Does not affect nuclear localization.		Potential.|Interaction with BRCA1.		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	c.1968G>C	CCDS2853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.64|16.64	3.178199|3.178199	0.57692|0.57692	.|.	.|.	ENSG00000163930|ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000478368|ENST00000469613	T;T;T|.	0.52526|.	0.66;0.66;0.66|.	5.94|5.94	5.06|5.06	0.68205|0.68205	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72391|0.72391	0.3454|0.3454	M|M	0.81942|0.81942	2.565|2.565	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.71674|.	0.998|.	D|.	0.76071|.	0.987|.	T|T	0.73685|0.73685	-0.3905|-0.3905	10|5	0.87932|.	D|.	0|.	.|.	8.612|8.612	0.33808|0.33808	0.0:0.7668:0.0:0.2332|0.0:0.7668:0.0:0.2332	.|.	656|.	Q92560|.	BAP1_HUMAN|.	N|T	656;638;180|56	ENSP00000417132:K656N;ENSP00000296288:K638N;ENSP00000420647:K180N|.	ENSP00000296288:K638N|.	K|R	-|-	3|2	2|0	BAP1|BAP1	52411850|52411850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	1.221000|1.221000	0.32503|0.32503	1.485000|1.485000	0.48380|0.48380	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.557	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1				52	13	0	0	0	0.01441	0	52	13		
ADAMTS9	56999	broad.mit.edu	37	3	64666970	64666970	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:64666970C>T	ENST00000498707.1	-	3	928	c.586G>A	c.(586-588)Gat>Aat	p.D196N	ADAMTS9_ENST00000459780.1_Missense_Mutation_p.D196N|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.D196N	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	196					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCCTCTTCATCTTCTTGTTCA	0.468																																						uc003dmg.2		NaN																	0				ovary(2)|urinary_tract(1)|skin(1)	4						c.(586-588)GAT>AAT		ADAM metallopeptidase with thrombospondin type 1							219.0	198.0	205.0					3																	64666970		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64666970C>T	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.586G>A	3.37:g.64666970C>T	ENSP00000418735:p.Asp196Asn					ADAMTS9_uc011bfo.1_Missense_Mutation_p.D196N|ADAMTS9_uc003dmh.1_Missense_Mutation_p.D25N|ADAMTS9_uc003dmk.1_Missense_Mutation_p.D196N	p.D196N	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	3	618	-		Lung NSC(201;0.00682)	196					A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.586G>A	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	9.257	1.042256	0.19748	.	.	ENSG00000163638	ENST00000295903;ENST00000498707;ENST00000459780	T;T;T	0.61510	0.28;0.28;0.1	6.04	4.1	0.47936	Peptidase M12B, propeptide (1);	0.063989	0.64402	D	0.000005	T	0.43010	0.1228	L	0.38838	1.175	0.40263	D	0.978197	B;B;B;B	0.10296	0.001;0.001;0.002;0.003	B;B;B;B	0.12837	0.008;0.003;0.006;0.008	T	0.34354	-0.9832	10	0.30854	T	0.27	.	7.099	0.25325	0.3599:0.5522:0.0:0.0879	.	196;196;196;196	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	N	196	ENSP00000295903:D196N;ENSP00000418735:D196N;ENSP00000419217:D196N	ENSP00000295903:D196N	D	-	1	0	ADAMTS9	64642010	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	4.008000	0.57103	1.572000	0.49736	0.561000	0.74099	GAT		0.468	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1				24	6	0	0	0	0.014323	0	24	6		
IMPG2	50939	broad.mit.edu	37	3	100963595	100963595	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:100963595G>C	ENST00000193391.7	-	13	1767	c.1580C>G	c.(1579-1581)tCt>tGt	p.S527C		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	527					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TGAATCAATAGAAAGAAAATC	0.343																																						uc003duq.1		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(1579-1581)TCT>TGT		interphotoreceptor matrix proteoglycan 2							66.0	63.0	64.0					3																	100963595		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100963595G>C	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1580C>G	3.37:g.100963595G>C	ENSP00000193391:p.Ser527Cys					IMPG2_uc011bhe.1_Missense_Mutation_p.S390C	p.S527C	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			13	1783	-			527			Extracellular (Potential).		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.1580C>G	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108707	0.37242	.	.	ENSG00000081148	ENST00000193391	T	0.25414	1.8	5.66	4.78	0.61160	.	0.455908	0.20919	N	0.083309	T	0.28466	0.0704	L	0.29908	0.895	0.27133	N	0.961834	D;D	0.63046	0.992;0.992	P;P	0.54401	0.751;0.62	T	0.06320	-1.0833	10	0.56958	D	0.05	-6.3277	9.5302	0.39189	0.0933:0.0:0.9067:0.0	.	527;527	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	C	527	ENSP00000193391:S527C	ENSP00000193391:S527C	S	-	2	0	IMPG2	102446285	0.982000	0.34865	0.680000	0.29994	0.336000	0.28762	1.741000	0.38238	2.663000	0.90544	0.655000	0.94253	TCT		0.343	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3				5	14	0	0	0	0.000602	0	5	14		
MYLK	4638	broad.mit.edu	37	3	123383093	123383093	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:123383093C>A	ENST00000475616.1	-	20	3843	c.3844G>T	c.(3844-3846)Gag>Tag	p.E1282*	MYLK_ENST00000360304.3_Nonsense_Mutation_p.E1282*|MYLK_ENST00000346322.5_Nonsense_Mutation_p.E1213*|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360772.3_Nonsense_Mutation_p.E1282*|MYLK_ENST00000354792.5_Nonsense_Mutation_p.E82*|MYLK_ENST00000359169.1_Nonsense_Mutation_p.E1282*			Q15746	MYLK_HUMAN	myosin light chain kinase	1282	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.|Ig-like C2-type 8.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TTCATGTGCTCGCTTTCCTGG	0.617																																						uc003ego.2		NaN																	0				ovary(6)|skin(2)|stomach(1)	9						c.(3844-3846)GAG>TAG		myosin light chain kinase isoform 1							119.0	111.0	113.0					3																	123383093		2203	4300	6503	SO:0001587	stop_gained	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123383093C>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3844G>T	3.37:g.123383093C>A	ENSP00000418335:p.Glu1282*					MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Nonsense_Mutation_p.E82*|MYLK_uc011bjw.1_Nonsense_Mutation_p.E1282*|MYLK_uc003egp.2_Nonsense_Mutation_p.E1213*|MYLK_uc003egq.2_Nonsense_Mutation_p.E1282*|MYLK_uc003egr.2_Nonsense_Mutation_p.E1213*|MYLK_uc003egs.2_Nonsense_Mutation_p.E1106*	p.E1282*	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	23	4126	-		Lung NSC(201;0.0496)	1282			Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Nonsense_Mutation	SNP	ENST00000475616.1	37	c.3844G>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	45	11.901725	0.99615	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616;ENST00000508240	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	16.7545	0.85496	0.0:1.0:0.0:0.0	.	.	.	.	X	1282;1282;1282;1213;82;1282;82	.	ENSP00000320622:E1213X	E	-	1	0	MYLK	124865783	0.910000	0.30920	0.978000	0.43139	0.881000	0.50899	2.824000	0.48088	2.260000	0.74910	0.655000	0.94253	GAG		0.617	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1		NM_053025		25	123	1	0	3.85864e-22	0.00278	4.28738e-22	25	123		
CDV3	55573	broad.mit.edu	37	3	133293897	133293897	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:133293897G>C	ENST00000264993.3	+	2	570	c.255G>C	c.(253-255)tgG>tgC	p.W85C	CDV3_ENST00000431519.2_Missense_Mutation_p.W85C|CDV3_ENST00000508481.1_5'UTR|CDV3_ENST00000420115.2_5'UTR|CDV3_ENST00000511392.1_5'UTR|CDV3_ENST00000515421.1_5'UTR	NM_001134422.1|NM_001282763.1|NM_017548.4	NP_001127894.1|NP_001269692.1|NP_060018.1	Q9UKY7	CDV3_HUMAN	CDV3 homolog (mouse)	85					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				kidney(3)|lung(1)|prostate(1)	5						AAGATGAATGGAAAGAATTGG	0.368																																						uc003epq.2		NaN																	0					0						c.(253-255)TGG>TGC		carnitine deficiency-associated gene expressed							116.0	115.0	115.0					3																	133293897		2203	4300	6503	SO:0001583	missense	55573				cell proliferation	cytoplasm		g.chr3:133293897G>C	AK096865	CCDS3079.1, CCDS46917.1, CCDS46918.1, CCDS75013.1, CCDS75014.1, CCDS75015.1	3q22.1	2008-02-05			ENSG00000091527	ENSG00000091527			26928	protein-coding gene	gene with protein product						10497265	Standard	NM_017548		Approved	H41	uc003epq.3	Q9UKY7	OTTHUMG00000159764	ENST00000264993.3:c.255G>C	3.37:g.133293897G>C	ENSP00000264993:p.Trp85Cys					CDV3_uc003epp.3_Missense_Mutation_p.W85C|CDV3_uc003epr.2_5'UTR	p.W85C	NM_017548	NP_060018	Q9UKY7	CDV3_HUMAN			2	710	+			85					B3KUC2|Q96IP9	Missense_Mutation	SNP	ENST00000264993.3	37	c.255G>C	CCDS3079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.48|15.48	2.845555|2.845555	0.51164|0.51164	.|.	.|.	ENSG00000091527|ENSG00000091527	ENST00000503932|ENST00000264993;ENST00000431519	.|.	.|.	.|.	3.91|3.91	3.91|3.91	0.45181|0.45181	.|.	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.79701|0.79701	0.4491|0.4491	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.997	D|D	0.83850|0.83850	0.0262|0.0262	5|9	.|0.87932	.|D	.|0	.|.	16.0658|16.0658	0.80870|0.80870	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|85;85	.|Q9UKY7;Q9UKY7-2	.|CDV3_HUMAN;.	A|C	39|85	.|.	.|ENSP00000264993:W85C	G|W	+|+	2|3	0|0	CDV3|CDV3	134776587|134776587	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.671000|0.671000	0.39405|0.39405	7.440000|7.440000	0.80464|0.80464	2.162000|2.162000	0.67917|0.67917	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.368	CDV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357203.1		NM_017548		23	46	0	0	0	0.003954	0	23	46		
CDV3	55573	broad.mit.edu	37	3	133293922	133293922	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:133293922G>C	ENST00000264993.3	+	2	595	c.280G>C	c.(280-282)Gat>Cat	p.D94H	CDV3_ENST00000431519.2_Missense_Mutation_p.D94H|CDV3_ENST00000508481.1_5'UTR|CDV3_ENST00000420115.2_5'UTR|CDV3_ENST00000511392.1_5'UTR|CDV3_ENST00000515421.1_5'UTR	NM_001134422.1|NM_001282763.1|NM_017548.4	NP_001127894.1|NP_001269692.1|NP_060018.1	Q9UKY7	CDV3_HUMAN	CDV3 homolog (mouse)	94					cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)				kidney(3)|lung(1)|prostate(1)	5						AAAAGAGGTTGATTACAGCGG	0.358																																						uc003epq.2		NaN																	0					0						c.(280-282)GAT>CAT		carnitine deficiency-associated gene expressed							121.0	119.0	120.0					3																	133293922		2203	4300	6503	SO:0001583	missense	55573				cell proliferation	cytoplasm		g.chr3:133293922G>C	AK096865	CCDS3079.1, CCDS46917.1, CCDS46918.1, CCDS75013.1, CCDS75014.1, CCDS75015.1	3q22.1	2008-02-05			ENSG00000091527	ENSG00000091527			26928	protein-coding gene	gene with protein product						10497265	Standard	NM_017548		Approved	H41	uc003epq.3	Q9UKY7	OTTHUMG00000159764	ENST00000264993.3:c.280G>C	3.37:g.133293922G>C	ENSP00000264993:p.Asp94His					CDV3_uc003epp.3_Missense_Mutation_p.D94H|CDV3_uc003epr.2_5'UTR	p.D94H	NM_017548	NP_060018	Q9UKY7	CDV3_HUMAN			2	735	+			94					B3KUC2|Q96IP9	Missense_Mutation	SNP	ENST00000264993.3	37	c.280G>C	CCDS3079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.955740|3.955740	0.73902|0.73902	.|.	.|.	ENSG00000091527|ENSG00000091527	ENST00000264993;ENST00000431519|ENST00000503932	.|.	.|.	.|.	3.91|3.91	3.91|3.91	0.45181|0.45181	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.76442|0.76442	0.3988|0.3988	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.76071|.	0.964;0.987|.	T|T	0.79354|0.79354	-0.1838|-0.1838	9|5	0.87932|.	D|.	0|.	.|.	16.0658|16.0658	0.80870|0.80870	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	94;94|.	Q9UKY7;Q9UKY7-2|.	CDV3_HUMAN;.|.	H|F	94|47	.|.	ENSP00000264993:D94H|.	D|L	+|+	1|3	0|2	CDV3|CDV3	134776612|134776612	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.440000|7.440000	0.80464|0.80464	2.162000|2.162000	0.67917|0.67917	0.650000|0.650000	0.86243|0.86243	GAT|TTG		0.358	CDV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357203.1		NM_017548		27	41	0	0	0	0.008361	0	27	41		
HPS3	84343	broad.mit.edu	37	3	148847538	148847538	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr3:148847538T>C	ENST00000296051.2	+	1	168	c.28T>C	c.(28-30)Ttc>Ctc	p.F10L	HPS3_ENST00000494327.1_3'UTR|HPS3_ENST00000460120.1_Missense_Mutation_p.F10L	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	10					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CCTGCACCCGTTCGGGTCGCA	0.721									Hermansky-Pudlak syndrome																													uc003ewu.1		NaN																	0				ovary(5)|large_intestine(1)	6						c.(28-30)TTC>CTC		Hermansky-Pudlak syndrome 3 protein							16.0	16.0	16.0					3																	148847538		2184	4271	6455	SO:0001583	missense	84343	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148847538T>C	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.28T>C	3.37:g.148847538T>C	ENSP00000296051:p.Phe10Leu					HPS3_uc003ewt.1_Missense_Mutation_p.F10L|HPS3_uc011bnq.1_Missense_Mutation_p.F10L	p.F10L	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		1	168	+			10					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	c.28T>C	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	T	36	5.641351	0.96704	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	D;T	0.81659	-1.52;-1.22	4.47	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.87974	0.6313	M	0.68952	2.095	0.29590	N	0.848505	D;D	0.89917	0.996;1.0	D;D	0.87578	0.99;0.998	D	0.84821	0.0796	10	0.87932	D	0	-23.0987	14.2388	0.65943	0.0:0.0:0.0:1.0	.	10;10	G5E9V4;Q969F9	.;HPS3_HUMAN	L	10	ENSP00000296051:F10L;ENSP00000418230:F10L	ENSP00000296051:F10L	F	+	1	0	HPS3	150330228	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.950000	0.63603	2.017000	0.59298	0.374000	0.22700	TTC		0.721	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1		NM_032383		7	26	0	0	0	0.006214	0	7	26		
PRKG2	5593	broad.mit.edu	37	4	82027076	82027076	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr4:82027076C>T	ENST00000395578.1	-	16	2070	c.1954G>A	c.(1954-1956)Ggg>Agg	p.G652R	PRKG2_ENST00000264399.1_Missense_Mutation_p.G652R|PRKG2_ENST00000545647.1_Missense_Mutation_p.G232R|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.G623R			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	652	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TGGTCAACCCCAGAAAAGGGT	0.393																																						uc003hmh.2		NaN																	0				breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						c.(1954-1956)GGG>AGG		protein kinase, cGMP-dependent, type II							89.0	88.0	88.0					4																	82027076		2203	4300	6503	SO:0001583	missense	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82027076C>T	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1954G>A	4.37:g.82027076C>T	ENSP00000378945:p.Gly652Arg					PRKG2_uc011ccf.1_Missense_Mutation_p.G232R|PRKG2_uc011ccg.1_Missense_Mutation_p.G232R|PRKG2_uc011cch.1_Missense_Mutation_p.G623R	p.G652R	NM_006259	NP_006250	Q13237	KGP2_HUMAN			15	1968	-			652			Protein kinase.		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	c.1954G>A	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	c	21.0	4.081228	0.76528	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486;ENST00000545647	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	5.41	5.41	0.78517	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	0.29126	0.0724	L	0.46741	1.465	0.80722	D	1	P;D	0.60575	0.574;0.988	P;D	0.80764	0.823;0.994	T	0.00624	-1.1639	10	0.72032	D	0.01	-21.0341	18.7774	0.91916	0.0:1.0:0.0:0.0	.	623;652	E7EPE6;Q13237	.;KGP2_HUMAN	R	652;652;623;232	ENSP00000378945:G652R;ENSP00000264399:G652R;ENSP00000389038:G623R;ENSP00000439967:G232R	ENSP00000264399:G652R	G	-	1	0	PRKG2	82246100	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.610000	0.82949	2.553000	0.86117	0.491000	0.48974	GGG		0.393	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1		NM_006259		5	15	0	0	0	0.001168	0	5	15		
COQ2	27235	broad.mit.edu	37	4	84193256	84193256	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr4:84193256C>T	ENST00000311469.4	-	4	761	c.762G>A	c.(760-762)tgG>tgA	p.W254*	COQ2_ENST00000514935.1_5'Flank|COQ2_ENST00000439031.2_Nonsense_Mutation_p.W217*|COQ2_ENST00000311461.7_Nonsense_Mutation_p.W204*	NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase	204					cell death (GO:0008219)|glycerol metabolic process (GO:0006071)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	4-hydroxybenzoate decaprenyltransferase activity (GO:0002083)|4-hydroxybenzoate nonaprenyltransferase activity (GO:0047293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				CTAGTTGAGGCCAGTATGAAA	0.358																																						uc003hog.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(649-651)TGG>TGA		para-hydroxybenzoate-polyprenyltransferase,							62.0	58.0	59.0					4																	84193256		1837	4085	5922	SO:0001587	stop_gained	27235				glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrial membrane	4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity	g.chr4:84193256C>T		CCDS47090.1, CCDS47090.2	4q21.23	2013-05-23	2013-05-23				2.5.1.39		25223	protein-coding gene	gene with protein product	"""4-hydroxybenzoate polyprenyltransferase"""	609825	"""coenzyme Q2 homolog, prenyltransferase (yeast)"""			15153069, 17332895	Standard	NM_015697		Approved	CL640, FLJ26072	uc003hog.3	Q96H96		ENST00000311469.4:c.762G>A	4.37:g.84193256C>T	ENSP00000310873:p.Trp254*					COQ2_uc011ccp.1_RNA|COQ2_uc003hof.2_RNA|COQ2_uc003hoh.1_Nonsense_Mutation_p.W217*	p.W217*	NM_015697	NP_056512	Q96H96	COQ2_HUMAN			4	659	-		Hepatocellular(203;0.114)	204			Helical; (Potential).		O95331|Q1JQ78|Q684R2	Nonsense_Mutation	SNP	ENST00000311469.4	37	c.651G>A	CCDS47090.2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365607	0.82463	.	.	ENSG00000173085	ENST00000311469;ENST00000439031;ENST00000311461	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.4433	17.4834	0.87680	0.0:1.0:0.0:0.0	.	.	.	.	X	254;217;204	.	ENSP00000311835:W204X	W	-	3	0	COQ2	84412280	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	6.948000	0.75965	2.854000	0.98071	0.655000	0.94253	TGG		0.358	COQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363027.3		NM_015697		6	7	0	0	0	0.00308	0	6	7		
SPARCL1	8404	broad.mit.edu	37	4	88414989	88414989	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr4:88414989G>A	ENST00000282470.6	-	4	1433	c.963C>T	c.(961-963)ctC>ctT	p.L321L	SPARCL1_ENST00000418378.1_Silent_p.L321L|SPARCL1_ENST00000503414.1_Silent_p.L196L	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	321					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TAGGTTCCATGAGCAGAGCCT	0.483																																						uc010ikm.2		NaN																	0				ovary(1)	1						c.(961-963)CTC>CTT		SPARC-like 1 precursor							232.0	199.0	210.0					4																	88414989		2203	4300	6503	SO:0001819	synonymous_variant	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88414989G>A	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.963C>T	4.37:g.88414989G>A						SPARCL1_uc011cdc.1_Silent_p.L196L|SPARCL1_uc003hqs.3_Silent_p.L321L|SPARCL1_uc011cdd.1_Silent_p.L196L|SPARCL1_uc003hqt.2_Silent_p.L321L	p.L321L	NM_001128310	NP_001121782	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	5	1535	-			321					B4E2Z0|E7ESU2|Q14800	Silent	SNP	ENST00000282470.6	37	c.963C>T	CCDS3622.1																																																																																				0.483	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2				22	101	0	0	0	0.00278	0	22	101		
CTSO	1519	broad.mit.edu	37	4	156850813	156850813	+	Missense_Mutation	SNP	G	G	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr4:156850813G>T	ENST00000433477.3	-	6	788	c.719C>A	c.(718-720)cCt>cAt	p.P240H		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	244					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		GACTACCAAAGGGCCAAAGGT	0.378																																					Pancreas(148;2303 2598 8989 35298)	uc003ipg.2		NaN																	0					0						c.(718-720)CCT>CAT		cathepsin O preproprotein							112.0	105.0	107.0					4																	156850813		2203	4300	6503	SO:0001583	missense	1519				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr4:156850813G>T	X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"""Cathepsins"""	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.719C>A	4.37:g.156850813G>T	ENSP00000414904:p.Pro240His						p.P240H	NM_001334	NP_001325	P43234	CATO_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)	6	768	-	all_hematologic(180;0.24)	Renal(120;0.0458)	240					Q6FHS6	Missense_Mutation	SNP	ENST00000433477.3	37	c.719C>A	CCDS3794.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885389	0.91814	.	.	ENSG00000256043	ENST00000433477	T	0.63580	-0.05	5.8	5.8	0.92144	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.88012	0.6323	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91827	0.5472	10	0.87932	D	0	.	20.0333	0.97547	0.0:0.0:1.0:0.0	.	240	P43234	CATO_HUMAN	H	240	ENSP00000414904:P240H	ENSP00000281527:P240H	P	-	2	0	CTSO	157070263	1.000000	0.71417	0.896000	0.35187	0.999000	0.98932	9.359000	0.97115	2.738000	0.93877	0.655000	0.94253	CCT		0.378	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1		NM_001334		8	16	1	0	5.18039e-06	0.00308	5.41235e-06	8	16		
RXFP3	51289	broad.mit.edu	37	5	33937235	33937235	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr5:33937235G>A	ENST00000330120.3	+	1	745	c.390G>A	c.(388-390)caG>caA	p.Q130Q		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	130					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CGGACTTTCAGTTTGTGCTCA	0.567																																						uc003jic.1		NaN																	0				upper_aerodigestive_tract(1)	1						c.(388-390)CAG>CAA		relaxin/insulin-like family peptide receptor 3							141.0	128.0	132.0					5																	33937235		2203	4300	6503	SO:0001819	synonymous_variant	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937235G>A	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.390G>A	5.37:g.33937235G>A							p.Q130Q	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	747	+			130			Helical; Name=2; (Potential).		Q14DA5	Silent	SNP	ENST00000330120.3	37	c.390G>A	CCDS3900.1																																																																																				0.567	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1		NM_016568		4	89	0	0	0	0.000602	0	4	89		
CWC27	10283	broad.mit.edu	37	5	64081347	64081347	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr5:64081347G>C	ENST00000381070.3	+	5	653	c.436G>C	c.(436-438)Gaa>Caa	p.E146Q	CWC27_ENST00000508024.1_Missense_Mutation_p.E146Q	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	146	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						GCGACTGTCAGAAGTAGACAT	0.333																																						uc003jtn.1		NaN																	0					0						c.(436-438)GAA>CAA		serologically defined colon cancer antigen 10							158.0	151.0	154.0					5																	64081347		2203	4300	6503	SO:0001583	missense	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64081347G>C	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.436G>C	5.37:g.64081347G>C	ENSP00000370460:p.Glu146Gln					CWC27_uc003jtl.2_Missense_Mutation_p.E146Q|CWC27_uc003jtm.2_Missense_Mutation_p.E146Q|CWC27_uc010iwt.1_Missense_Mutation_p.E146Q	p.E146Q	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN			5	655	+			146			PPIase cyclophilin-type.		O60529|O60530|Q96EM3	Missense_Mutation	SNP	ENST00000381070.3	37	c.436G>C	CCDS3982.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006972	0.74932	.	.	ENSG00000153015	ENST00000381070;ENST00000508024;ENST00000538793	T;T	0.23950	1.88;1.88	5.07	5.07	0.68467	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.156955	0.56097	D	0.000032	T	0.48892	0.1525	L	0.58810	1.83	0.80722	D	1	B;D;D;D	0.67145	0.314;0.99;0.987;0.996	B;D;D;D	0.75020	0.209;0.922;0.955;0.985	T	0.44190	-0.9344	10	0.56958	D	0.05	.	18.6436	0.91404	0.0:0.0:1.0:0.0	.	146;146;146;146	Q6UX04-2;Q6UX04;F5H636;D6REK3	.;CWC27_HUMAN;.;.	Q	146	ENSP00000370460:E146Q;ENSP00000426802:E146Q	ENSP00000370460:E146Q	E	+	1	0	CWC27	64117103	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	8.723000	0.91458	2.636000	0.89361	0.467000	0.42956	GAA		0.333	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4		NM_005869		12	20	0	0	0	0.003163	0	12	20		
SLCO6A1	133482	broad.mit.edu	37	5	101735415	101735415	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr5:101735415C>A	ENST00000506729.1	-	10	1829	c.1658G>T	c.(1657-1659)gGa>gTa	p.G553V	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G553V|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G300V|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G491V|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G300V			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	553						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGTTATTAATCCTTCTTTAAT	0.323																																						uc003knn.2		NaN																	0				ovary(3)|skin(3)|central_nervous_system(1)	7						c.(1657-1659)GGA>GTA		solute carrier organic anion transporter family,							94.0	89.0	91.0					5																	101735415		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101735415C>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1658G>T	5.37:g.101735415C>A	ENSP00000421339:p.Gly553Val					SLCO6A1_uc003kno.2_Missense_Mutation_p.G300V|SLCO6A1_uc003knp.2_Missense_Mutation_p.G553V|SLCO6A1_uc003knq.2_Missense_Mutation_p.G491V	p.G553V	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	10	1830	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	553			Extracellular (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1658G>T	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740347	0.30865	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.47528	0.85;0.85;0.92;0.84;0.84	5.42	4.48	0.54585	Major facilitator superfamily domain, general substrate transporter (1);	.	.	.	.	T	0.67050	0.2852	M	0.83603	2.65	0.25967	N	0.982553	D;D;D	0.89917	1.0;0.982;1.0	D;D;D	0.97110	1.0;0.952;1.0	T	0.57676	-0.7770	9	0.38643	T	0.18	.	8.2141	0.31501	0.0:0.8917:0.0:0.1083	.	491;300;553	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	V	553;553;491;300;300	ENSP00000421339:G553V;ENSP00000369135:G553V;ENSP00000373671:G491V;ENSP00000421990:G300V;ENSP00000369138:G300V	ENSP00000369135:G553V	G	-	2	0	SLCO6A1	101763314	0.053000	0.20554	0.497000	0.27552	0.108000	0.19459	1.288000	0.33296	2.805000	0.96524	0.655000	0.94253	GGA		0.323	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1		NM_173488		7	8	1	0	0.00307968	0.00308	0.00313948	7	8		
CAMLG	819	broad.mit.edu	37	5	134086448	134086448	+	Splice_Site	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr5:134086448G>C	ENST00000297156.2	+	4	819		c.e4-1		CAMLG_ENST00000514518.1_Splice_Site	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand						defense response (GO:0006952)|epidermal growth factor receptor signaling pathway (GO:0007173)|receptor recycling (GO:0001881)|signal transduction (GO:0007165)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	TCTCTACACAGAGTGAAAAGA	0.358																																						uc003kzt.2		NaN																	0					0						c.e4-1		calcium modulating ligand	Cyclosporine(DB00091)						92.0	97.0	95.0					5																	134086448		2203	4300	6503	SO:0001630	splice_region_variant	819				defense response	endoplasmic reticulum|integral to membrane		g.chr5:134086448G>C	AF068179.1	CCDS4178.1	5q23	2008-07-18			ENSG00000164615	ENSG00000164615			1471	protein-coding gene	gene with protein product	"""calcium-modulating cyclophilin ligand"", ""calcium-signal modulating cyclophilin ligand"", ""cyclophilin B-binding protein"""	601118				8824814	Standard	NM_001745		Approved	CAML	uc003kzt.3	P49069	OTTHUMG00000129116	ENST00000297156.2:c.700-1G>C	5.37:g.134086448G>C						CAMLG_uc003kzu.2_Splice_Site_p.E80_splice	p.S234_splice	NM_001745	NP_001736	P49069	CAMLG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	805	+								A1L3Y3	Splice_Site	SNP	ENST00000297156.2	37	c.700_splice	CCDS4178.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799096	0.50208	.	.	ENSG00000164615	ENST00000297156;ENST00000514518	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3414	0.90307	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAMLG	134114347	1.000000	0.71417	0.433000	0.26760	0.543000	0.35085	9.464000	0.97655	2.335000	0.79485	0.313000	0.20887	.		0.358	CAMLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251161.1		NM_001745	Intron	8	16	0	0	0	0.004482	0	8	16		
FGF18	8817	broad.mit.edu	37	5	170883752	170883752	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr5:170883752C>T	ENST00000274625.5	+	5	1111	c.567C>T	c.(565-567)ttC>ttT	p.F189F		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	189					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGAAGCCCTTCAAGTACACGA	0.682																																						uc003mbk.2		NaN																	0					0						c.(565-567)TTC>TTT		fibroblast growth factor 18 precursor							38.0	48.0	45.0					5																	170883752		2203	4300	6503	SO:0001819	synonymous_variant	8817				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr5:170883752C>T	AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.567C>T	5.37:g.170883752C>T							p.F189F	NM_003862	NP_003853	O76093	FGF18_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		5	1104	+	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	189					D3DQL7|Q6UWF1	Silent	SNP	ENST00000274625.5	37	c.567C>T	CCDS4378.1																																																																																				0.682	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252857.2		NM_033649, NM_003862		53	9	0	0	0	0.01441	0	53	9		
HLA-B	3106	broad.mit.edu	37	6	31322894	31322894	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:31322894C>T	ENST00000412585.2	-	5	1030	c.1002G>A	c.(1000-1002)agG>agA	p.R334R		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	334					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CTGAACTCTTCCTCCTACACA	0.582									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													uc003nth.2		NaN																	0					0						c.(1000-1002)AGG>AGA		major histocompatibility complex, class I, B							101.0	100.0	100.0					6																	31322894		1511	2709	4220	SO:0001819	synonymous_variant	3106	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of	Familial Cancer Database	;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:31322894C>T	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.1002G>A	6.37:g.31322894C>T						HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Silent_p.R213R|HLA-B_uc003nti.1_Intron	p.R334R	NM_005514	NP_005505	P01889	1B07_HUMAN			5	1056	-			334			Cytoplasmic (Potential).		Q29764	Silent	SNP	ENST00000412585.2	37	c.1002G>A	CCDS34394.1																																																																																				0.582	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4		NM_005514		14	102	0	0	0	0.00245	0	14	102		
COL11A2	1302	broad.mit.edu	37	6	33136782	33136782	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:33136782G>C	ENST00000374708.4	-	50	3802	c.3544C>G	c.(3544-3546)Cct>Gct	p.P1182A	COL11A2_ENST00000395197.1_Missense_Mutation_p.P1208A|COL11A2_ENST00000374714.1_Missense_Mutation_p.P1242A|COL11A2_ENST00000357486.1_Missense_Mutation_p.P1247A|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.P1221A|COL11A2_ENST00000361917.1_Missense_Mutation_p.P1161A|COL11A2_ENST00000341947.2_Missense_Mutation_p.P1268A|COL11A2_ENST00000374712.1_Missense_Mutation_p.P1187A	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1268	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AAACCAACAGGACCCTGATCC	0.592																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1		NaN																	0				ovary(3)|skin(2)	5						c.(3802-3804)CCT>GCT		collagen, type XI, alpha 2 isoform 1							49.0	57.0	54.0					6																	33136782		1511	2708	4219	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33136782G>C	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3544C>G	6.37:g.33136782G>C	ENSP00000363840:p.Pro1182Ala					COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.P1182A|COL11A2_uc003ocz.1_Missense_Mutation_p.P1161A	p.P1268A	NM_080680	NP_542411	P13942	COBA2_HUMAN			52	4030	-			1268			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.3802C>G	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464445	0.43736	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.93906	-3.18;-3.31;-3.31;-2.63;-3.18;-3.31;-3.18;-3.18	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	N	0.13098	0.295	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.994;0.986	D	0.92859	0.6304	10	0.54805	T	0.06	.	14.2085	0.65750	0.0:0.0:1.0:0.0	.	1161;1182;1268	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	A	1182;1268;1247;1242;1221;1208;1187;1161	ENSP00000363840:P1182A;ENSP00000339915:P1268A;ENSP00000350079:P1247A;ENSP00000363846:P1242A;ENSP00000363845:P1221A;ENSP00000378623:P1208A;ENSP00000363844:P1187A;ENSP00000355123:P1161A	ENSP00000339915:P1268A	P	-	1	0	COL11A2	33244760	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	9.499000	0.97975	2.205000	0.71048	0.551000	0.68910	CCT		0.592	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2				23	41	0	0	0	0.00278	0	23	41		
PTCRA	171558	broad.mit.edu	37	6	42893345	42893345	+	Silent	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:42893345C>G	ENST00000304672.1	+	4	852	c.771C>G	c.(769-771)ctC>ctG	p.L257L	PTCRA_ENST00000446507.1_Silent_p.L150L|PTCRA_ENST00000441198.1_Silent_p.L232L	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	257					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GATCTGCCCTCAGGGCTCCTT	0.632																																						uc003osx.2		NaN																	0				ovary(2)	2						c.(769-771)CTC>CTG		pre T-cell antigen receptor alpha precursor							36.0	31.0	33.0					6																	42893345		2203	4300	6503	SO:0001819	synonymous_variant	171558					integral to membrane	receptor activity	g.chr6:42893345C>G	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.771C>G	6.37:g.42893345C>G						PTCRA_uc010jxy.2_Silent_p.L232L|PTCRA_uc010jxz.2_Silent_p.L150L	p.L257L	NM_138296	NP_612153	Q6ISU1	PTCRA_HUMAN	all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		4	852	+	Colorectal(47;0.196)		257			Cytoplasmic (Potential).		Q5TFZ7	Silent	SNP	ENST00000304672.1	37	c.771C>G	CCDS4874.1																																																																																				0.632	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2		NM_138296		11	12	0	0	0	0.008291	0	11	12		
HSP90AB1	3326	broad.mit.edu	37	6	44221102	44221102	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:44221102C>G	ENST00000371554.1	+	11	2266	c.2052C>G	c.(2050-2052)atC>atG	p.I684M	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.I684M|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.I684M|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_5'Flank			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	684					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATCGCATGATCAAGCTAGGTC	0.483																																						uc003oxa.1		NaN																	0				lung(3)|breast(1)	4						c.(2050-2052)ATC>ATG		heat shock 90kDa protein 1, beta							260.0	259.0	260.0					6																	44221102		2203	4300	6503	SO:0001583	missense	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44221102C>G	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.2052C>G	6.37:g.44221102C>G	ENSP00000360609:p.Ile684Met					HSP90AB1_uc011dvr.1_Missense_Mutation_p.I674M|HSP90AB1_uc003oxb.1_Missense_Mutation_p.I684M|HSP90AB1_uc011dvs.1_Missense_Mutation_p.I504M|HSP90AB1_uc003oxc.1_Missense_Mutation_p.I322M	p.I684M	NM_007355	NP_031381	P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	2136	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		684					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	ENST00000371554.1	37	c.2052C>G	CCDS4909.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393554	0.62066	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.46451	0.87;0.87;0.87	4.56	1.62	0.23740	.	0.000000	0.64402	U	0.000001	T	0.41743	0.1172	M	0.64567	1.98	0.80722	D	1	P;B;P	0.48589	0.912;0.076;0.703	P;B;P	0.62560	0.904;0.267;0.695	T	0.40942	-0.9536	10	0.87932	D	0	-18.7935	7.1078	0.25372	0.1394:0.6989:0.0:0.1617	.	646;674;684	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	M	684	ENSP00000360709:I684M;ENSP00000325875:I684M;ENSP00000360609:I684M	ENSP00000325875:I684M	I	+	3	3	HSP90AB1	44329080	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.085000	0.41634	0.443000	0.26582	0.508000	0.49915	ATC		0.483	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1		NM_007355		62	197	0	0	0	0.01441	0	62	197		
LAMA2	3908	broad.mit.edu	37	6	129687390	129687390	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:129687390C>G	ENST00000421865.2	+	33	4793	c.4744C>G	c.(4744-4746)Ctt>Gtt	p.L1582V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1582	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CACTGGCCTTCTTCTCGGTGA	0.463																																						uc003qbn.2		NaN																	0				ovary(8)|breast(1)|skin(1)	10						c.(4744-4746)CTT>GTT		laminin alpha 2 subunit isoform a precursor							123.0	110.0	115.0					6																	129687390		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129687390C>G	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4744C>G	6.37:g.129687390C>G	ENSP00000400365:p.Leu1582Val					LAMA2_uc003qbo.2_Missense_Mutation_p.L1582V	p.L1582V	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	33	4849	+			1582			Domain II and I.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.4744C>G	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648662	0.67358	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.50548	0.74	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	T	0.66426	0.2788	M	0.82517	2.595	0.48511	D	0.999664	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.912	T	0.69993	-0.4994	10	0.54805	T	0.06	.	17.2529	0.87047	0.0:1.0:0.0:0.0	.	1582;1582	A6NF00;P24043	.;LAMA2_HUMAN	V	1582	ENSP00000400365:L1582V	ENSP00000346769:L1582V	L	+	1	0	LAMA2	129729083	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.250000	0.51445	2.498000	0.84270	0.650000	0.86243	CTT		0.463	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1				18	19	0	0	0	0.012319	0	18	19		
SLC18B1	116843	broad.mit.edu	37	6	133105152	133105152	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:133105152C>A	ENST00000275227.4	-	6	674	c.578G>T	c.(577-579)gGc>gTc	p.G193V	SLC18B1_ENST00000538764.1_Missense_Mutation_p.G67V|SLC18B1_ENST00000367918.1_Intron	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	193					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											CACTTCATAGCCAAAGGATTG	0.383																																						uc003qdw.1		NaN																	0				ovary(1)	1						c.(577-579)GGC>GTC		hypothetical protein LOC116843							115.0	119.0	118.0					6																	133105152		2203	4300	6503	SO:0001583	missense	116843				transmembrane transport	integral to membrane		g.chr6:133105152C>A	AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"""Solute carriers"""	21573	protein-coding gene	gene with protein product		613361	"""chromosome 6 open reading frame 192"""	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.578G>T	6.37:g.133105152C>A	ENSP00000275227:p.Gly193Val					C6orf192_uc011eco.1_Missense_Mutation_p.G67V	p.G193V	NM_052831	NP_439896	Q6NT16	CF192_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00303)|GBM - Glioblastoma multiforme(226;0.0265)	6	730	-			193			Extracellular (Potential).		A8K1K3|B3KW77|Q6ISF2	Missense_Mutation	SNP	ENST00000275227.4	37	c.578G>T	CCDS5163.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641395	0.87859	.	.	ENSG00000146409	ENST00000275227;ENST00000538764	T;T	0.71934	-0.61;-0.61	5.53	5.53	0.82687	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.86615	0.5975	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89105	0.3492	10	0.87932	D	0	-9.8794	19.0578	0.93072	0.0:1.0:0.0:0.0	.	67;193	B7Z1S5;Q6NT16	.;CF192_HUMAN	V	193;67	ENSP00000275227:G193V;ENSP00000444098:G67V	ENSP00000275227:G193V	G	-	2	0	C6orf192	133146845	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.188000	0.77739	2.588000	0.87417	0.655000	0.94253	GGC		0.383	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042273.1		NM_052831		12	23	1	0	2.27111e-07	0.013537	2.38467e-07	12	23		
CCDC28A	25901	broad.mit.edu	37	6	139113917	139113917	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:139113917G>A	ENST00000332797.6	+	6	957	c.802G>A	c.(802-804)Gtt>Att	p.V268I		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	268										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGCACAAGATGTTCCAAATAC	0.338																																						uc003qie.2		NaN																	0					0						c.(802-804)GTT>ATT		coiled-coil domain containing 28A							72.0	67.0	69.0					6																	139113917		2203	4299	6502	SO:0001583	missense	25901							g.chr6:139113917G>A	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.802G>A	6.37:g.139113917G>A	ENSP00000332716:p.Val268Ile						p.V268I	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	6	957	+			268					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	ENST00000332797.6	37	c.802G>A	CCDS5192.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896805	0.52121	.	.	ENSG00000024862	ENST00000332797;ENST00000026464	T	0.25912	1.77	5.97	5.97	0.96955	.	0.296400	0.31531	N	0.007486	T	0.03520	0.0101	N	0.04508	-0.205	0.26608	N	0.972888	P	0.38535	0.635	B	0.29862	0.108	T	0.19614	-1.0300	10	0.20046	T	0.44	-11.589	10.4084	0.44278	0.1483:0.0:0.8517:0.0	.	268	Q8IWP9	CC28A_HUMAN	I	268;155	ENSP00000332716:V268I	ENSP00000026464:V155I	V	+	1	0	CCDC28A	139155610	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.946000	0.49050	2.820000	0.97059	0.655000	0.94253	GTT		0.338	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1		NM_015439		6	26	0	0	0	0.00308	0	6	26		
CCDC126	90693	broad.mit.edu	37	7	23682709	23682709	+	Missense_Mutation	SNP	C	C	T	rs146283363		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:23682709C>T	ENST00000307471.3	+	4	855	c.398C>T	c.(397-399)aCg>aTg	p.T133M	CCDC126_ENST00000409765.1_Missense_Mutation_p.T133M|CCDC126_ENST00000410069.1_Missense_Mutation_p.T133M	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	133					protein N-linked glycosylation (GO:0006487)	extracellular region (GO:0005576)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)	p.T133M(1)		endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						AATAAAAGAACGAATGTCTCG	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		18419	0.001		0.0	False		,,,				2504	0.0					uc003swl.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|skin(1)	2						c.(397-399)ACG>ATG		coiled-coil domain containing 126 precursor		C	MET/THR	0,4406		0,0,2203	105.0	89.0	95.0		398	3.5	0.9	7	dbSNP_134	95	2,8598	2.2+/-6.3	0,2,4298	no	missense	CCDC126	NM_138771.3	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	133/141	23682709	2,13004	2203	4300	6503	SO:0001583	missense	90693					extracellular region		g.chr7:23682709C>T	BC012427	CCDS5384.1	7p15.3	2006-08-15			ENSG00000169193	ENSG00000169193			22398	protein-coding gene	gene with protein product						12477932	Standard	NM_138771		Approved	FLJ23031	uc003swl.3	Q96EE4	OTTHUMG00000128461	ENST00000307471.3:c.398C>T	7.37:g.23682709C>T	ENSP00000304355:p.Thr133Met					CCDC126_uc003swm.2_Missense_Mutation_p.T133M|CCDC126_uc003swn.2_Missense_Mutation_p.T133M	p.T133M	NM_138771	NP_620126	Q96EE4	CC126_HUMAN			4	855	+			133					A8K1J6|Q6UWP1|Q75MQ6	Missense_Mutation	SNP	ENST00000307471.3	37	c.398C>T	CCDS5384.1	.	.	.	.	.	.	.	.	.	.	C	9.154	1.017030	0.19355	0.0	2.33E-4	ENSG00000169193	ENST00000307471;ENST00000409765;ENST00000410069	.	.	.	5.8	3.48	0.39840	.	0.643972	0.16193	N	0.225320	T	0.26629	0.0651	N	0.22421	0.69	0.24684	N	0.993343	B	0.30021	0.265	B	0.20955	0.032	T	0.13656	-1.0501	9	0.62326	D	0.03	-7.7871	9.029	0.36247	0.0:0.2247:0.0:0.7753	.	133	Q96EE4	CC126_HUMAN	M	133	.	ENSP00000304355:T133M	T	+	2	0	CCDC126	23649234	0.767000	0.28508	0.851000	0.33527	0.565000	0.35776	0.920000	0.28705	0.479000	0.27511	-0.469000	0.05056	ACG		0.428	CCDC126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250259.1		NM_138771		8	19	0	0	0	0.00308	0	8	19		
TNS3	64759	broad.mit.edu	37	7	47408747	47408747	+	Missense_Mutation	SNP	G	G	A	rs370345227		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:47408747G>A	ENST00000398879.1	-	17	1862	c.1496C>T	c.(1495-1497)tCg>tTg	p.S499L	TNS3_ENST00000355730.3_Missense_Mutation_p.S259L|TNS3_ENST00000311160.9_Missense_Mutation_p.S499L			Q68CZ2	TENS3_HUMAN	tensin 3	499					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						AGGCCCTTCCGAGGAGGACAG	0.592																																						uc003tnv.2		NaN																	0				ovary(4)	4						c.(1495-1497)TCG>TTG		tensin 3							47.0	51.0	50.0					7																	47408747		2056	4191	6247	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47408747G>A	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1496C>T	7.37:g.47408747G>A	ENSP00000381854:p.Ser499Leu					TNS3_uc003tnw.2_Missense_Mutation_p.S499L	p.S499L	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			17	1863	-			499					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.1496C>T	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870228	0.33069	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000457718	D;D;D;D	0.93426	-2.78;-2.78;-3.22;-2.91	5.3	5.3	0.74995	.	0.441981	0.23437	N	0.048189	D	0.87418	0.6172	L	0.34521	1.04	0.80722	D	1	B	0.30937	0.301	B	0.17979	0.02	D	0.85048	0.0927	10	0.10636	T	0.68	-10.5553	16.4281	0.83831	0.0:0.0:1.0:0.0	.	499	Q68CZ2	TENS3_HUMAN	L	499;609;499;259;602	ENSP00000312143:S499L;ENSP00000381854:S499L;ENSP00000347968:S259L;ENSP00000414358:S602L	ENSP00000312143:S499L	S	-	2	0	TNS3	47375272	1.000000	0.71417	0.661000	0.29709	0.425000	0.31504	6.572000	0.74005	2.452000	0.82932	0.655000	0.94253	TCG		0.592	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1		NM_022748		6	39	0	0	0	0.004482	0	6	39		
POM121L12	285877	broad.mit.edu	37	7	53104067	53104067	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:53104067C>T	ENST00000408890.4	+	1	719	c.703C>T	c.(703-705)Cct>Tct	p.P235S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	235										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CAGGCCAGGGCCTCTGAAGCC	0.642																																						uc003tpz.2		NaN																	0					0						c.(703-705)CCT>TCT		POM121 membrane glycoprotein-like 12							42.0	50.0	47.0					7																	53104067		1960	4135	6095	SO:0001583	missense	285877							g.chr7:53104067C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.703C>T	7.37:g.53104067C>T	ENSP00000386133:p.Pro235Ser						p.P235S	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	719	+			235					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.703C>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	3.280	-0.147274	0.06627	.	.	ENSG00000221900	ENST00000408890	T	0.14391	2.51	2.16	1.26	0.21427	.	.	.	.	.	T	0.14013	0.0339	N	0.26042	0.785	0.09310	N	1	D	0.60160	0.987	P	0.57283	0.817	T	0.20739	-1.0266	9	0.18276	T	0.48	.	4.7581	0.13093	0.0:0.8156:0.0:0.1844	.	235	Q8N7R1	P1L12_HUMAN	S	235	ENSP00000386133:P235S	ENSP00000386133:P235S	P	+	1	0	POM121L12	53071561	0.000000	0.05858	0.064000	0.19789	0.352000	0.29268	0.119000	0.15626	0.488000	0.27723	-0.258000	0.10820	CCT		0.642	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1		NM_182595		14	56	0	0	0	0.003163	0	14	56		
PSPH	5723	broad.mit.edu	37	7	56088853	56088853	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:56088853C>A	ENST00000395471.3	-	4	858	c.53G>T	c.(52-54)tGt>tTt	p.C18F	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.C18F			P78330	SERB_HUMAN	phosphoserine phosphatase	18					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AACATCAAAACACACAGCATC	0.438																																						uc003trg.2		NaN																	0				ovary(1)|skin(1)	2						c.(52-54)TGT>TTT		phosphoserine phosphatase							111.0	82.0	92.0					7																	56088853		2203	4300	6503	SO:0001583	missense	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56088853C>A	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.53G>T	7.37:g.56088853C>A	ENSP00000378854:p.Cys18Phe					PSPH_uc003trh.2_Missense_Mutation_p.C18F|PSPH_uc003tri.2_Missense_Mutation_p.C18F|PSPH_uc003trj.2_Missense_Mutation_p.C47F	p.C18F	NM_004577	NP_004568	P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		3	416	-	Breast(14;0.214)		18					B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	c.53G>T	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285166	0.59867	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626;ENST00000419984;ENST00000421312	T;T;T;D;D	0.82344	-0.19;-0.19;-0.19;-1.6;-1.6	5.34	5.34	0.76211	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.90899	0.7140	M	0.80028	2.48	0.80722	D	1	D;D	0.71674	0.998;0.981	D;P	0.63793	0.918;0.857	D	0.92058	0.5654	10	0.87932	D	0	-12.5639	18.0192	0.89250	0.0:1.0:0.0:0.0	.	18;18	Q53EY1;P78330	.;SERB_HUMAN	F	18	ENSP00000275605:C18F;ENSP00000378854:C18F;ENSP00000398653:C18F;ENSP00000399660:C18F;ENSP00000390952:C18F	ENSP00000275605:C18F	C	-	2	0	PSPH	56056347	1.000000	0.71417	0.938000	0.37757	0.091000	0.18340	7.629000	0.83207	2.510000	0.84645	0.467000	0.42956	TGT		0.438	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1		NM_004577		15	76	1	0	0.000219431	0.00245	0.000225885	15	76		
MLXIPL	51085	broad.mit.edu	37	7	73011529	73011529	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:73011529G>C	ENST00000313375.3	-	9	1633	c.1586C>G	c.(1585-1587)aCa>aGa	p.T529R	MLXIPL_ENST00000354613.1_Missense_Mutation_p.T529R|MLXIPL_ENST00000429400.2_Missense_Mutation_p.T529R|MLXIPL_ENST00000414749.2_Missense_Mutation_p.T529R|MLXIPL_ENST00000395189.1_Missense_Mutation_p.T436R|MLXIPL_ENST00000434326.1_Missense_Mutation_p.T436R	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	529					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GAGCAGCTGTGTGAGGCAGGG	0.672																																						uc003tyn.1		NaN																	0				pancreas(1)	1						c.(1585-1587)ACA>AGA		Williams Beuren syndrome chromosome region 14							8.0	9.0	9.0					7																	73011529		2094	4017	6111	SO:0001583	missense	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73011529G>C	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1586C>G	7.37:g.73011529G>C	ENSP00000320886:p.Thr529Arg					MLXIPL_uc003tyj.1_5'UTR|MLXIPL_uc003tyk.1_Missense_Mutation_p.T529R|MLXIPL_uc003tyl.1_Missense_Mutation_p.T529R|MLXIPL_uc003tym.1_Missense_Mutation_p.T529R|MLXIPL_uc003tyo.1_RNA|MLXIPL_uc003typ.1_Missense_Mutation_p.T436R|MLXIPL_uc003tyq.1_Missense_Mutation_p.T271R	p.T529R	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN			9	1634	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	529					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	c.1586C>G	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.259284	0.59321	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	T;T;T;T;T;T	0.25579	2.4;2.42;2.42;2.41;1.79;1.8	4.67	4.67	0.58626	.	0.514389	0.18470	N	0.140252	T	0.39627	0.1085	L	0.32530	0.975	0.34481	D	0.703929	D;D;D;D;D;D	0.89917	0.998;1.0;0.995;0.997;1.0;1.0	D;D;D;D;D;D	0.85130	0.991;0.997;0.979;0.991;0.997;0.997	T	0.52495	-0.8568	10	0.66056	D	0.02	-5.7312	13.0906	0.59166	0.0:0.0:1.0:0.0	.	436;436;529;529;529;529	C5HU01;Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;.;MLXPL_HUMAN;.;.;.	R	529;529;529;529;436;436	ENSP00000412330:T529R;ENSP00000406296:T529R;ENSP00000320886:T529R;ENSP00000346629:T529R;ENSP00000378616:T436R;ENSP00000392636:T436R	ENSP00000320886:T529R	T	-	2	0	MLXIPL	72649465	0.984000	0.35163	0.998000	0.56505	0.976000	0.68499	2.540000	0.45727	2.151000	0.67156	0.430000	0.28490	ACA		0.672	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1		NM_032951		4	14	0	0	0	0.009096	0	4	14		
ZNF804B	219578	broad.mit.edu	37	7	88966018	88966018	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:88966018C>T	ENST00000333190.4	+	4	4331	c.3722C>T	c.(3721-3723)gCa>gTa	p.A1241V		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1241							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTTTCACAGGCACATTTCAGT	0.468										HNSCC(36;0.09)																												uc011khi.1		NaN																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3721-3723)GCA>GTA		zinc finger protein 804B							217.0	184.0	195.0					7																	88966018		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88966018C>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3722C>T	7.37:g.88966018C>T	ENSP00000329638:p.Ala1241Val	HNSCC(36;0.09)					p.A1241V	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	4260	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1241					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3722C>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	11.22	1.575678	0.28092	.	.	ENSG00000182348	ENST00000333190	T	0.04917	3.53	5.05	5.05	0.67936	.	0.543483	0.18078	N	0.152404	T	0.07503	0.0189	L	0.29908	0.895	0.26858	N	0.968021	B	0.20671	0.047	B	0.16722	0.016	T	0.20371	-1.0277	10	0.42905	T	0.14	-5.4974	18.5984	0.91239	0.0:1.0:0.0:0.0	.	1241	A4D1E1	Z804B_HUMAN	V	1241	ENSP00000329638:A1241V	ENSP00000329638:A1241V	A	+	2	0	ZNF804B	88803954	0.980000	0.34600	1.000000	0.80357	0.080000	0.17528	5.234000	0.65343	2.616000	0.88540	0.561000	0.74099	GCA		0.468	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2		NM_181646		21	63	0	0	0	0.008871	0	21	63		
ANKIB1	54467	broad.mit.edu	37	7	91981821	91981821	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:91981821G>A	ENST00000265742.3	+	9	1638	c.1262G>A	c.(1261-1263)tGg>tAg	p.W421*		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	421							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCCATTAAATGGTGTCCTACT	0.383																																						uc003ulw.2		NaN																	0				lung(1)	1						c.(1261-1263)TGG>TAG		ankyrin repeat and IBR domain containing 1							131.0	122.0	125.0					7																	91981821		1874	4112	5986	SO:0001587	stop_gained	54467						protein binding|zinc ion binding	g.chr7:91981821G>A	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.1262G>A	7.37:g.91981821G>A	ENSP00000265742:p.Trp421*						p.W421*	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	1638	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		421			IBR-type; degenerate.		Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Nonsense_Mutation	SNP	ENST00000265742.3	37	c.1262G>A	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	G	41	8.535410	0.98852	.	.	ENSG00000001629	ENST00000265742	.	.	.	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.1872	0.89796	0.0:0.0:1.0:0.0	.	.	.	.	X	421	.	ENSP00000265742:W421X	W	+	2	0	ANKIB1	91819757	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.383000	0.81215	0.462000	0.41574	TGG		0.383	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1				7	40	0	0	0	0.004482	0	7	40		
ANKIB1	54467	broad.mit.edu	37	7	91981845	91981845	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:91981845G>C	ENST00000265742.3	+	9	1662	c.1286G>C	c.(1285-1287)aGa>aCa	p.R429T		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	429							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGCTGTGACAGAGCAGTAAGA	0.398																																						uc003ulw.2		NaN																	0				lung(1)	1						c.(1285-1287)AGA>ACA		ankyrin repeat and IBR domain containing 1							169.0	160.0	163.0					7																	91981845		1909	4118	6027	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:91981845G>C	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.1286G>C	7.37:g.91981845G>C	ENSP00000265742:p.Arg429Thr						p.R429T	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	1662	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		429			IBR-type; degenerate.		Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.1286G>C	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982911	0.74474	.	.	ENSG00000001629	ENST00000265742	T	0.80304	-1.36	4.79	4.79	0.61399	Zinc finger, C6HC-type (2);	0.050395	0.85682	D	0.000000	D	0.87317	0.6147	M	0.66506	2.035	0.45718	D	0.998628	D	0.56287	0.975	P	0.59357	0.856	D	0.88028	0.2773	10	0.52906	T	0.07	.	18.1872	0.89796	0.0:0.0:1.0:0.0	.	429	Q9P2G1	AKIB1_HUMAN	T	429	ENSP00000265742:R429T	ENSP00000265742:R429T	R	+	2	0	ANKIB1	91819781	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.532000	0.81985	2.383000	0.81215	0.462000	0.41574	AGA		0.398	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1				14	44	0	0	0	0.00245	0	14	44		
CTTNBP2	83992	broad.mit.edu	37	7	117375046	117375046	+	Missense_Mutation	SNP	C	C	T	rs35288952|rs200782612		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:117375046C>T	ENST00000160373.3	-	16	3888	c.3797G>A	c.(3796-3798)cGc>cAc	p.R1266H		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1266					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CTGCACCCAGCGGAAATGCTG	0.532																																						uc003vjf.2		NaN																	0				ovary(4)|central_nervous_system(1)	5						c.(3796-3798)CGC>CAC		cortactin binding protein 2							69.0	72.0	71.0					7																	117375046		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117375046C>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3797G>A	7.37:g.117375046C>T	ENSP00000160373:p.Arg1266His						p.R1266H	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	16	3889	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1266					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.3797G>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608420	0.87258	.	.	ENSG00000077063	ENST00000160373	T	0.77358	-1.09	5.38	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.87629	0.6225	M	0.87547	2.89	0.58432	D	0.999998	D	0.89917	1.0	D	0.69479	0.964	D	0.88751	0.3250	10	0.87932	D	0	-4.1387	10.1297	0.42672	0.1363:0.7925:0.0:0.0712	.	1266	Q8WZ74	CTTB2_HUMAN	H	1266	ENSP00000160373:R1266H	ENSP00000160373:R1266H	R	-	2	0	CTTNBP2	117162282	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.438000	0.66550	1.390000	0.46547	0.655000	0.94253	CGC		0.532	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4		NM_033427		9	30	0	0	0	0.004482	0	9	30		
XRCC2	7516	broad.mit.edu	37	7	152373252	152373252	+	5'Flank	SNP	C	C	G	rs3218384	byFrequency	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr7:152373252C>G	ENST00000359321.1	-	0	0					NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2						centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		CCAGTCAAACCCGCCCACCCG	0.701								Homologous recombination					C|||	729	0.145567	0.0514	0.1225	5008	,	,		13301	0.1488		0.2008	False		,,,				2504	0.229					uc003wld.2		NaN																	0				breast(1)|liver(1)	2						c.e1-1	Homologous_recombination	X-ray repair cross complementing protein 2																																				SO:0001631	upstream_gene_variant	7516				meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152373252C>G	Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"""RAD51-like"""	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470		7.37:g.152373252C>G	Exception_encountered							NM_005431	NP_005422	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	1	1	-		all_hematologic(28;0.0592)|Prostate(32;0.081)						B2R925	Splice_Site	SNP	ENST00000359321.1	37	c.-85_splice	CCDS5933.1																																																																																				0.701	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1		NM_005431		3	28	0	0	0	0.004672	0	3	28		
DEFA5	1670	broad.mit.edu	37	8	6912954	6912954	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr8:6912954C>T	ENST00000330590.2	-	2	320	c.284G>A	c.(283-285)tGa>tAa	p.*95*		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	0					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|secretory granule lumen (GO:0034774)				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CTAGGAAGCTCAGCGACAGCA	0.483																																						uc003wra.1		NaN																	0					0						c.(283-285)TGA>TAA		defensin, alpha 5 preproprotein							32.0	32.0	32.0					8																	6912954		2203	4300	6503	SO:0001819	synonymous_variant	1670				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6912954C>T	BC069690	CCDS5963.1	8p23.1	2007-02-20			ENSG00000164816	ENSG00000164816		"""Defensins, alpha"""	2764	protein-coding gene	gene with protein product		600472		DEF5		1429669	Standard	NM_021010		Approved	HD-5	uc003wra.1	Q01523	OTTHUMG00000090383	ENST00000330590.2:c.284G>A	8.37:g.6912954C>T							p.*95*	NM_021010	NP_066290	Q01523	DEF5_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	2	324	-			95					A0JDY6|Q3KNV2	Silent	SNP	ENST00000330590.2	37	c.284G>A	CCDS5963.1																																																																																				0.483	DEFA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206755.1		NM_021010		9	9	0	0	0	0.004482	0	9	9		
FGFR1	2260	broad.mit.edu	37	8	38275486	38275486	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr8:38275486C>G	ENST00000447712.2	-	11	2395	c.1454G>C	c.(1453-1455)gGa>gCa	p.G485A	FGFR1_ENST00000397108.4_Missense_Mutation_p.G483A|FGFR1_ENST00000397091.5_Missense_Mutation_p.G483A|FGFR1_ENST00000341462.5_Missense_Mutation_p.G485A|FGFR1_ENST00000335922.5_Missense_Mutation_p.G475A|FGFR1_ENST00000397103.1_Missense_Mutation_p.G396A|FGFR1_ENST00000425967.3_Missense_Mutation_p.G516A|FGFR1_ENST00000532791.1_Missense_Mutation_p.G483A|FGFR1_ENST00000326324.6_Missense_Mutation_p.G394A|FGFR1_ENST00000397113.2_Missense_Mutation_p.G483A|FGFR1_ENST00000356207.5_Missense_Mutation_p.G396A	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	485	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GCAGCCCTCTCCCAGGGGTTT	0.552		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	uc003xlp.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	Pfeiffer syndrome|Kallman syndrome	L	BCR|FOP|ZNF198|CEP1		MPD|NHL		0				lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15						c.(1453-1455)GGA>GCA		fibroblast growth factor receptor 1 isoform 1	Palifermin(DB00039)						76.0	74.0	74.0					8																	38275486		1920	4134	6054	SO:0001583	missense	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38275486C>G	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1454G>C	8.37:g.38275486C>G	ENSP00000400162:p.Gly485Ala					FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.G483A|FGFR1_uc011lbp.1_Missense_Mutation_p.G396A|FGFR1_uc011lbq.1_Missense_Mutation_p.G394A|FGFR1_uc010lwk.2_Missense_Mutation_p.G475A	p.G485A	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		12	2396	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	485			ATP.|Cytoplasmic (Potential).|Protein kinase.		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	c.1454G>C	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	C	35	5.487121	0.96323	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	D;D;D;D;D;D;D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68	5.61	5.61	0.85477	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96463	0.8846	M	0.90542	3.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.983;1.0	D;D;D;P;D	0.85130	0.995;0.993;0.997;0.484;0.995	D	0.96627	0.9464	10	0.87932	D	0	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	394;394;485;475;483	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	A	483;516;485;485;485;483;483;396;475;394;396;483	ENSP00000380280:G483A;ENSP00000393312:G516A;ENSP00000400162:G485A;ENSP00000340636:G485A;ENSP00000432972:G483A;ENSP00000380302:G483A;ENSP00000348537:G396A;ENSP00000337247:G475A;ENSP00000327229:G394A;ENSP00000380292:G396A;ENSP00000380297:G483A	ENSP00000311337:G485A	G	-	2	0	FGFR1	38394643	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.808000	0.96608	0.655000	0.94253	GGA		0.552	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding					46	25	0	0	0	0.010771	0	46	25		
MSC	9242	broad.mit.edu	37	8	72756080	72756080	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr8:72756080C>A	ENST00000325509.4	-	1	623	c.334G>T	c.(334-336)Gcc>Tcc	p.A112S	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|MSC_ENST00000518440.1_5'Flank	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	112	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branchiomeric skeletal muscle development (GO:0014707)|diaphragm development (GO:0060539)|palate development (GO:0060021)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CGGGCGTTGGCCGCGTTCCGC	0.701											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003xyx.1		NaN																	0					0						c.(334-336)GCC>TCC		musculin							18.0	20.0	19.0					8																	72756080		2202	4299	6501	SO:0001583	missense	9242				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr8:72756080C>A		CCDS43746.1	8q13.3	2013-06-07	2010-04-28		ENSG00000178860	ENSG00000178860		"""Basic helix-loop-helix proteins"""	7321	protein-coding gene	gene with protein product	"""activated B-cell factor-1"""	603628	"""musculin (activated B-cell factor-1)"""			9584154, 10198176	Standard	NM_005098		Approved	ABF-1, bHLHa22	uc003xyx.1	O60682	OTTHUMG00000164489	ENST00000325509.4:c.334G>T	8.37:g.72756080C>A	ENSP00000321445:p.Ala112Ser		OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1140	uc011lff.1_Intron|uc003xyy.2_5'Flank	p.A112S	NM_005098	NP_005089	O60682	MUSC_HUMAN	Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)		1	652	-	Breast(64;0.176)		112			Basic motif.		O75946|Q53XZ2|Q9BRE7	Missense_Mutation	SNP	ENST00000325509.4	37	c.334G>T	CCDS43746.1	.	.	.	.	.	.	.	.	.	.	C	35	5.495225	0.96355	.	.	ENSG00000178860	ENST00000325509	D	0.98105	-4.72	4.87	4.87	0.63330	Helix-loop-helix DNA-binding (4);	0.000000	0.85682	D	0.000000	D	0.98738	0.9576	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99866	1.1089	10	0.87932	D	0	.	18.0163	0.89242	0.0:1.0:0.0:0.0	.	112	O60682	MUSC_HUMAN	S	112	ENSP00000321445:A112S	ENSP00000321445:A112S	A	-	1	0	MSC	72918634	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.535000	0.82014	2.258000	0.74832	0.555000	0.69702	GCC		0.701	MSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378974.1		NM_005098		11	25	1	0	9.70103e-10	0.008291	1.0394e-09	11	25		
HNF4G	3174	broad.mit.edu	37	8	76468215	76468215	+	Splice_Site	SNP	A	A	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr8:76468215A>T	ENST00000354370.1	+	7	774		c.e7-1		HNF4G_ENST00000396423.2_Splice_Site			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma						endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TTTTTCATTAAGGTGGCACTG	0.338																																						uc003yaq.2		NaN																	0				ovary(1)	1						c.e7-2		hepatocyte nuclear factor 4, gamma							57.0	62.0	60.0					8																	76468215		2203	4300	6503	SO:0001630	splice_region_variant	3174				endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr8:76468215A>T		CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.505-1A>T	8.37:g.76468215A>T						HNF4G_uc003yar.2_Splice_Site_p.V206_splice	p.V169_splice	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.161)		7	775	+	Breast(64;0.0448)							Q7Z2V9|Q9UH81|Q9UIS6	Splice_Site	SNP	ENST00000354370.1	37	c.505_splice		.	.	.	.	.	.	.	.	.	.	A	23.3	4.402717	0.83230	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6873	0.77421	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HNF4G	76630770	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.031000	0.93731	2.172000	0.68678	0.533000	0.62120	.		0.338	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000313914.2		NM_004133	Intron	5	8	0	0	0	0.000602	0	5	8		
IMPA1	3612	broad.mit.edu	37	8	82592977	82592977	+	Silent	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr8:82592977C>A	ENST00000256108.5	-	3	570	c.105G>T	c.(103-105)ctG>ctT	p.L35L	IMPA1_ENST00000523710.1_5'UTR|IMPA1_ENST00000449740.2_Silent_p.L94L|IMPA1_ENST00000311489.4_Silent_p.L35L	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	35					inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	GAGAACTTTTCAGCATAACAT	0.299																																						uc003ych.2		NaN																	0				skin(1)	1						c.(103-105)CTG>CTT		inositol(myo)-1(or 4)-monophosphatase 1 isoform	Lithium(DB01356)						90.0	90.0	90.0					8																	82592977		2203	4300	6503	SO:0001819	synonymous_variant	3612				inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	g.chr8:82592977C>A		CCDS6231.1, CCDS47883.1, CCDS47884.1	8q21.1-q21.3	2008-01-28			ENSG00000133731	ENSG00000133731	3.1.3.25		6050	protein-coding gene	gene with protein product		602064		IMPA		1377913	Standard	NM_005536		Approved		uc011lfq.1	P29218	OTTHUMG00000164682	ENST00000256108.5:c.105G>T	8.37:g.82592977C>A						IMPA1_uc011lfq.1_Silent_p.L94L|IMPA1_uc011lfr.1_Silent_p.L35L	p.L35L	NM_005536	NP_005527	P29218	IMPA1_HUMAN			3	232	-			35					B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Silent	SNP	ENST00000256108.5	37	c.105G>T	CCDS6231.1	.	.	.	.	.	.	.	.	.	.	C	8.233	0.805195	0.16467	.	.	ENSG00000133731	ENST00000523942	.	.	.	4.71	0.724	0.18236	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.6523	7.5844	0.27985	0.6289:0.293:0.0782:0.0	.	.	.	.	X	60	.	.	E	-	1	0	IMPA1	82755532	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	1.316000	0.33620	0.271000	0.22005	0.542000	0.68232	GAA		0.299	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379723.1				12	63	1	0	5.16669e-11	0.010729	5.56412e-11	12	63		
DCAF10	79269	broad.mit.edu	37	9	37842171	37842171	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr9:37842171T>C	ENST00000377724.3	+	3	1104	c.739T>C	c.(739-741)Tgc>Cgc	p.C247R	DCAF10_ENST00000242323.7_Missense_Mutation_p.C247R|RP11-613M10.9_ENST00000540557.1_Intron	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	247					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						CACCAAAGTATGCACTTTACA	0.368																																						uc004aao.2		NaN																	0				central_nervous_system(1)	1						c.(739-741)TGC>CGC		WD repeat domain 32							171.0	149.0	157.0					9																	37842171		2203	4300	6503	SO:0001583	missense	79269					CUL4 RING ubiquitin ligase complex		g.chr9:37842171T>C	BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	23686	protein-coding gene	gene with protein product			"""WD repeat domain 32"""	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.739T>C	9.37:g.37842171T>C	ENSP00000366953:p.Cys247Arg					DCAF10_uc010mlz.2_Missense_Mutation_p.C74R	p.C247R	NM_024345	NP_077321	Q5QP82	DCA10_HUMAN			3	813	+			247			WD 2.		A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	Missense_Mutation	SNP	ENST00000377724.3	37	c.739T>C	CCDS6613.2	.	.	.	.	.	.	.	.	.	.	T	5.904	0.350946	0.11182	.	.	ENSG00000122741	ENST00000377724;ENST00000242323	T;T	0.58210	0.35;0.35	5.49	4.36	0.52297	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.23330	0.0564	N	0.01438	-0.865	0.80722	D	1	B;B	0.19331	0.001;0.035	B;B	0.25884	0.002;0.064	T	0.05289	-1.0894	10	0.15066	T	0.55	.	9.4163	0.38523	0.0:0.0843:0.0:0.9157	.	247;247	Q5QP82-2;Q5QP82	.;DCA10_HUMAN	R	247	ENSP00000366953:C247R;ENSP00000242323:C247R	ENSP00000242323:C247R	C	+	1	0	DCAF10	37832171	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.676000	0.84012	0.938000	0.37419	0.533000	0.62120	TGC		0.368	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052485.2		NM_024345		19	26	0	0	0	0.008871	0	19	26		
ANXA1	301	broad.mit.edu	37	9	75777739	75777739	+	Missense_Mutation	SNP	T	T	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr9:75777739T>C	ENST00000376911.1	+	6	1399	c.517T>C	c.(517-519)Tct>Cct	p.S173P	ANXA1_ENST00000257497.6_Missense_Mutation_p.S173P			P04083	ANXA1_HUMAN	annexin A1	173					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	CTCAGACACATCTGGAGATTT	0.328																																						uc004ajf.1		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(517-519)TCT>CCT		annexin I	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)						90.0	90.0	90.0					9																	75777739		2203	4300	6503	SO:0001583	missense	301				alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	g.chr9:75777739T>C	X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"""Annexins"", ""Endogenous ligands"""	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.517T>C	9.37:g.75777739T>C	ENSP00000366109:p.Ser173Pro					ANXA1_uc004aje.1_Missense_Mutation_p.S173P|ANXA1_uc004ajg.1_Missense_Mutation_p.S173P	p.S173P	NM_000700	NP_000691	P04083	ANXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	7	591	+		all_epithelial(88;2.54e-11)	173			Annexin 2.			Missense_Mutation	SNP	ENST00000376911.1	37	c.517T>C	CCDS6645.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.485776	0.84854	.	.	ENSG00000135046	ENST00000257497;ENST00000456643;ENST00000376911	T;T;T	0.06608	3.28;3.28;3.28	5.86	5.86	0.93980	Annexin repeat, conserved site (1);	0.091348	0.85682	D	0.000000	T	0.42063	0.1186	H	0.98238	4.18	0.58432	D	0.999998	D	0.89917	1.0	D	0.77557	0.99	T	0.63994	-0.6511	10	0.87932	D	0	.	16.2644	0.82568	0.0:0.0:0.0:1.0	.	173	P04083	ANXA1_HUMAN	P	173;184;173	ENSP00000257497:S173P;ENSP00000412489:S184P;ENSP00000366109:S173P	ENSP00000257497:S173P	S	+	1	0	ANXA1	74967559	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.480000	0.60243	2.244000	0.73946	0.528000	0.53228	TCT		0.328	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1		NM_000700		3	1	0	0	0	0.004672	0	3	1		
SCAI	286205	broad.mit.edu	37	9	127781102	127781102	+	Silent	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr9:127781102G>A	ENST00000336505.6	-	9	895	c.837C>T	c.(835-837)ctC>ctT	p.L279L	SCAI_ENST00000373549.4_Silent_p.L302L	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	279					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TACCAATAATGAGTGCGTCAG	0.378																																						uc004bpe.2		NaN																	0				ovary(2)|breast(2)|central_nervous_system(1)	5						c.(835-837)CTC>CTT		suppressor of cancer cell invasion isoform 2							103.0	96.0	99.0					9																	127781102		1917	4131	6048	SO:0001819	synonymous_variant	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127781102G>A	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.837C>T	9.37:g.127781102G>A						SCAI_uc004bpd.2_Silent_p.L302L|SCAI_uc010mwu.2_RNA	p.L279L	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN			9	918	-			279					Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Silent	SNP	ENST00000336505.6	37	c.837C>T	CCDS48017.1																																																																																				0.378	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3		NM_173690		22	31	0	0	0	0.00278	0	22	31		
PRRX2	51450	broad.mit.edu	37	9	132481528	132481528	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr9:132481528G>A	ENST00000372469.4	+	2	505	c.278G>A	c.(277-279)gGg>gAg	p.G93E	RP11-483H20.6_ENST00000440413.1_RNA	NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	93					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				CCCAGCCCGGGGCGCGGTAGC	0.672																																						uc004byh.2		NaN																	0				pancreas(1)	1						c.(277-279)GGG>GAG		paired related homeobox 2							14.0	17.0	16.0					9																	132481528		2181	4284	6465	SO:0001583	missense	51450					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:132481528G>A	AF061970	CCDS6926.1	9q34.11	2011-06-20			ENSG00000167157	ENSG00000167157		"""Homeoboxes / PRD class"""	21338	protein-coding gene	gene with protein product		604675				11063257	Standard	NM_016307		Approved	PRX2, PMX2	uc004byh.3	Q99811	OTTHUMG00000020790	ENST00000372469.4:c.278G>A	9.37:g.132481528G>A	ENSP00000361547:p.Gly93Glu						p.G93E	NM_016307	NP_057391	Q99811	PRRX2_HUMAN			2	505	+		Ovarian(14;0.00556)	93					Q5SZB5|Q9UIB3	Missense_Mutation	SNP	ENST00000372469.4	37	c.278G>A	CCDS6926.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.720|7.720	0.696894|0.696894	0.15106|0.15106	.|.	.|.	ENSG00000167157|ENSG00000167157	ENST00000372469|ENST00000557730	D|D	0.90444|0.90069	-2.67|-2.61	3.55|3.55	3.55|3.55	0.40652|0.40652	Homeodomain-related (1);|.	0.231202|0.231202	0.38381|0.38381	N|N	0.001713|0.001713	T|T	0.81365|0.81365	0.4807|0.4807	N|N	0.12182|0.12182	0.205|0.205	0.35252|0.35252	D|D	0.778812|0.778812	B|.	0.18310|.	0.027|.	B|.	0.11329|.	0.006|.	T|T	0.82516|0.82516	-0.0418|-0.0418	10|7	0.02654|.	T|.	1|.	.|.	13.4145|13.4145	0.60961|0.60961	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	93|.	Q99811|.	PRRX2_HUMAN|.	E|S	93|8	ENSP00000361547:G93E|ENSP00000450512:G8S	ENSP00000361547:G93E|.	G|G	+|+	2|1	0|0	PRRX2|PRRX2	131521349|131521349	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.645000|0.645000	0.38454|0.38454	4.157000|4.157000	0.58144|0.58144	2.302000|2.302000	0.77476|0.77476	0.462000|0.462000	0.41574|0.41574	GGG|GGC		0.672	PRRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054598.2		NM_016307		8	4	0	0	0	0.00308	0	8	4		
PNPLA7	375775	broad.mit.edu	37	9	140379137	140379137	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr9:140379137G>A	ENST00000277531.4	-	20	2360	c.2174C>T	c.(2173-2175)cCg>cTg	p.P725L	PNPLA7_ENST00000371457.1_Missense_Mutation_p.P331L|PNPLA7_ENST00000406427.1_Missense_Mutation_p.P750L	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	725					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTTGACAGCCGGGTTCCCCAA	0.662																																						uc004cnf.2		NaN																	0				skin(1)	1						c.(2173-2175)CCG>CTG		patatin-like phospholipase domain containing 7							52.0	43.0	46.0					9																	140379137		2202	4300	6502	SO:0001583	missense	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140379137G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2174C>T	9.37:g.140379137G>A	ENSP00000277531:p.Pro725Leu					C9orf167_uc011mew.1_Intron|PNPLA7_uc004cnd.1_5'UTR|PNPLA7_uc004cne.1_5'UTR|PNPLA7_uc011mfa.1_Missense_Mutation_p.P133L|PNPLA7_uc010ncj.1_Missense_Mutation_p.P750L	p.P725L	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	20	2511	-	all_cancers(76;0.126)		725					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.2174C>T	CCDS7045.1	.	.	.	.	.	.	.	.	.	.	G	8.403	0.842348	0.16963	.	.	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.71461	-0.57;3.41;0.21;0.21;0.22	4.98	2.16	0.27623	.	0.439500	0.26496	N	0.024043	T	0.63628	0.2527	M	0.62723	1.935	0.58432	D	0.999999	B;B;B	0.21520	0.022;0.046;0.057	B;B;B	0.19148	0.008;0.014;0.024	T	0.55457	-0.8138	10	0.36615	T	0.2	-8.2193	9.3068	0.37881	0.233:0.0:0.767:0.0	.	133;750;725	E2QRF8;Q6ZV29-5;Q6ZV29	.;.;PLPL7_HUMAN	L	331;133;725;750;725;716	ENSP00000360512:P331L;ENSP00000360501:P133L;ENSP00000277531:P725L;ENSP00000384610:P750L;ENSP00000400582:P716L	ENSP00000277531:P725L	P	-	2	0	PNPLA7	139498958	0.997000	0.39634	0.003000	0.11579	0.014000	0.08584	2.420000	0.44679	0.160000	0.19432	-0.369000	0.07265	CCG		0.662	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1		NM_152286		3	11	0	0	0	0.004672	0	3	11		
ZMYND19	116225	broad.mit.edu	37	9	140481554	140481554	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr9:140481554C>T	ENST00000298585.2	-	4	450	c.224G>A	c.(223-225)cGg>cAg	p.R75Q	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	75						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCCCCGGTGCCGCTCCCTAGA	0.622																																						uc004cno.1		NaN																	0				skin(1)	1						c.(223-225)CGG>CAG		zinc finger, MYND domain containing 19							48.0	57.0	54.0					9																	140481554		2203	4300	6503	SO:0001583	missense	116225					Golgi apparatus|plasma membrane	zinc ion binding	g.chr9:140481554C>T	BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"""Zinc fingers, MYND-type"""	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.224G>A	9.37:g.140481554C>T	ENSP00000298585:p.Arg75Gln						p.R75Q	NM_138462	NP_612471	Q96E35	ZMY19_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)	4	446	-	all_cancers(76;0.106)		75					Q5T366	Missense_Mutation	SNP	ENST00000298585.2	37	c.224G>A	CCDS7048.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.683026	0.68157	.	.	ENSG00000165724	ENST00000298585	.	.	.	5.06	4.16	0.48862	.	0.110301	0.64402	D	0.000014	T	0.29256	0.0728	N	0.16743	0.435	0.45777	D	0.998666	P	0.44090	0.826	B	0.35859	0.212	T	0.19910	-1.0291	9	0.72032	D	0.01	-14.4175	11.9474	0.52936	0.0:0.9158:0.0:0.0842	.	75	Q96E35	ZMY19_HUMAN	Q	75	.	ENSP00000298585:R75Q	R	-	2	0	ZMYND19	139601375	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.358000	0.66064	1.355000	0.45865	0.655000	0.94253	CGG		0.622	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055356.1		NM_138462		10	55	0	0	0	0.008291	0	10	55		
IL3RA	3563	broad.mit.edu	37	X	1471230	1471230	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:1471230C>G	ENST00000331035.4	+	6	796	c.447C>G	c.(445-447)taC>taG	p.Y149*	IL3RA_ENST00000381469.2_Nonsense_Mutation_p.Y71*	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	149					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTCAACAGTACGAGTGTCTTC	0.602																																						uc004cps.2		NaN																	0				skin(2)|lung(1)	3						c.(445-447)TAC>TAG		interleukin 3 receptor, alpha precursor	Sargramostim(DB00020)						326.0	316.0	319.0					X																	1471230		2203	4296	6499	SO:0001587	stop_gained	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1471230C>G	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.447C>G	X.37:g.1471230C>G	ENSP00000327890:p.Tyr149*					IL3RA_uc011mhd.1_Nonsense_Mutation_p.Y71*	p.Y149*	NM_002183	NP_002174	P26951	IL3RA_HUMAN			6	796	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	149			Extracellular (Potential).		A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Nonsense_Mutation	SNP	ENST00000331035.4	37	c.447C>G	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	8.235	0.805509	0.16467	.	.	ENSG00000185291	ENST00000331035;ENST00000432757;ENST00000381469	.	.	.	1.75	-3.5	0.04710	.	2.415650	0.01968	U	0.043848	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.6254	3.2527	0.06820	0.3976:0.3112:0.2913:0.0	.	.	.	.	X	149;71;71	.	ENSP00000327890:Y149X	Y	+	3	2	IL3RA	1431230	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.860000	0.04272	-1.172000	0.02762	0.182000	0.17080	TAC		0.602	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3				54	524	0	0	0	0.01441	0	54	524		
DMD	1756	broad.mit.edu	37	X	32503148	32503148	+	Silent	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:32503148C>T	ENST00000357033.4	-	21	2897	c.2691G>A	c.(2689-2691)ctG>ctA	p.L897L	DMD_ENST00000378677.2_Silent_p.L893L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	897					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTTCTCTTTCAGGGCTATGC	0.413																																						uc004dda.1		NaN																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(2689-2691)CTG>CTA		dystrophin Dp427m isoform							164.0	142.0	149.0					X																	32503148		2202	4300	6502	SO:0001819	synonymous_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32503148C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.2691G>A	X.37:g.32503148C>T						DMD_uc004dcz.2_Silent_p.L774L|DMD_uc004dcy.1_Silent_p.L893L|DMD_uc004ddb.1_Silent_p.L889L|DMD_uc010ngo.1_Intron	p.L897L	NM_004006	NP_003997	P11532	DMD_HUMAN			21	2935	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	897			Spectrin 5.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Silent	SNP	ENST00000357033.4	37	c.2691G>A	CCDS14233.1																																																																																				0.413	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2		NM_004006		7	31	0	0	0	0.00308	0	7	31		
WAS	7454	broad.mit.edu	37	X	48547079	48547079	+	Missense_Mutation	SNP	G	G	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:48547079G>C	ENST00000376701.4	+	10	1037	c.962G>C	c.(961-963)cGa>cCa	p.R321P		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	321					actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCGCCATCTCGAGGAGGGAAC	0.587			"""Mis, N, F, S"""			lymphoma																																uc004dkm.3		NaN		X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	Mis|N|F|S	Wiskott-Aldrich syndrome			L		lymphoma			0				ovary(1)	1						c.(961-963)CGA>CCA		Wiskott-Aldrich syndrome protein							16.0	16.0	16.0					X																	48547079		2169	4231	6400	SO:0001583	missense	7454	Wiskott-Aldrich_syndrome			blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	g.chrX:48547079G>C	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.962G>C	X.37:g.48547079G>C	ENSP00000365891:p.Arg321Pro						p.R321P	NM_000377	NP_000368	P42768	WASP_HUMAN			10	1019	+		all_lung(315;1.27e-10)	321					Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	c.962G>C	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	G	9.313	1.056070	0.19907	.	.	ENSG00000015285	ENST00000376701	D	0.95412	-3.7	4.5	3.55	0.40652	Wiscott-Aldrich syndrome, C-terminal (1);	0.158214	0.41294	D	0.000915	D	0.91580	0.7340	L	0.58810	1.83	0.29095	N	0.881866	B	0.06786	0.001	B	0.06405	0.002	T	0.81735	-0.0797	10	0.21540	T	0.41	-10.8314	6.3809	0.21533	0.0:0.1963:0.5988:0.2049	.	321	P42768	WASP_HUMAN	P	321	ENSP00000365891:R321P	ENSP00000365891:R321P	R	+	2	0	WAS	48432023	1.000000	0.71417	0.998000	0.56505	0.767000	0.43475	2.978000	0.49305	1.950000	0.56595	0.525000	0.51046	CGA		0.587	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1		NM_000377		9	53	0	0	0	0.010729	0	9	53		
KDM5C	8242	broad.mit.edu	37	X	53247478	53247478	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:53247478C>T	ENST00000375401.3	-	3	863	c.331G>A	c.(331-333)Gac>Aac	p.D111N	KDM5C_ENST00000375379.3_Missense_Mutation_p.D111N|KDM5C_ENST00000404049.3_Missense_Mutation_p.D111N|KDM5C_ENST00000375383.3_Intron|KDM5C_ENST00000452825.3_Intron	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	111	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CTGTAGAGGTCCAAGATCCGC	0.488			"""N, F, S"""		clear cell renal carcinoma																																	uc004drz.2		NaN		Rec	yes		X	Xp11.22-p11.21	8242	N|F|S	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						c.(331-333)GAC>AAC		jumonji, AT rich interactive domain 1C isoform							76.0	67.0	70.0					X																	53247478		2203	4300	6503	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53247478C>T	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.331G>A	X.37:g.53247478C>T	ENSP00000364550:p.Asp111Asn					KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Intron|KDM5C_uc004dsa.2_Missense_Mutation_p.D111N	p.D111N	NM_004187	NP_004178	P41229	KDM5C_HUMAN			3	864	-			111			ARID.		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.331G>A	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999195	0.93227	.	.	ENSG00000126012	ENST00000375401;ENST00000404049;ENST00000375379	T;T;T	0.69435	-0.4;-0.4;-0.4	5.08	5.08	0.68730	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	D	0.82660	0.5085	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85711	0.1319	10	0.87932	D	0	-25.7026	14.8665	0.70419	0.0:1.0:0.0:0.0	.	111;111	B0QZ44;P41229	.;KDM5C_HUMAN	N	111	ENSP00000364550:D111N;ENSP00000385394:D111N;ENSP00000364528:D111N	ENSP00000364528:D111N	D	-	1	0	KDM5C	53264203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.638000	0.83328	2.093000	0.63338	0.529000	0.55759	GAC		0.488	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2		NM_004187		10	50	0	0	0	0.006214	0	10	50		
WNK3	65267	broad.mit.edu	37	X	54276034	54276034	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:54276034C>T	ENST00000375159.2	-	16	2746	c.2747G>A	c.(2746-2748)cGg>cAg	p.R916Q	WNK3_ENST00000354646.2_Missense_Mutation_p.R916Q|WNK3_ENST00000375169.3_Missense_Mutation_p.R916Q			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	916					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CAATGTGTCCCGTGATATTTC	0.398																																						uc004dtd.1		NaN																	0				lung(4)|ovary(3)|kidney(2)|central_nervous_system(2)	11						c.(2746-2748)CGG>CAG		WNK lysine deficient protein kinase 3 isoform 2							91.0	91.0	91.0					X																	54276034		2203	4297	6500	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54276034C>T	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.2747G>A	X.37:g.54276034C>T	ENSP00000364301:p.Arg916Gln					WNK3_uc004dtc.1_Missense_Mutation_p.R916Q	p.R916Q	NM_001002838	NP_001002838	Q9BYP7	WNK3_HUMAN			17	3186	-			916					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.2747G>A	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.340192	0.00224	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.31769	1.48;1.48;1.48	5.02	2.6	0.31112	.	0.248907	0.28606	N	0.014758	T	0.07908	0.0198	N	0.01576	-0.805	0.20403	N	0.999906	B;B	0.09022	0.0;0.002	B;B	0.04013	0.001;0.0	T	0.38178	-0.9673	10	0.02654	T	1	-0.0366	5.1159	0.14834	0.0:0.0999:0.1794:0.7207	.	916;916	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	Q	916	ENSP00000364312:R916Q;ENSP00000346667:R916Q;ENSP00000364301:R916Q	ENSP00000346667:R916Q	R	-	2	0	WNK3	54292759	0.999000	0.42202	0.639000	0.29394	0.007000	0.05969	1.043000	0.30316	0.142000	0.18901	-1.379000	0.01178	CGG		0.398	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2		NM_020922		8	78	0	0	0	0.006214	0	8	78		
MTMR8	55613	broad.mit.edu	37	X	63548760	63548760	+	Missense_Mutation	SNP	G	G	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:63548760G>A	ENST00000374852.3	-	12	1440	c.1373C>T	c.(1372-1374)tCt>tTt	p.S458F	MTMR8_ENST00000453546.1_Intron|MTMR8_ENST00000478487.1_5'Flank	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	458	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGGCCACACAGAATGTGTTTT	0.403																																						uc004dvs.2		NaN																	1	Whole gene deletion(1)		ovary(1)	ovary(2)|breast(2)	4						c.(1372-1374)TCT>TTT		myotubularin related protein 8							76.0	66.0	69.0					X																	63548760		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63548760G>A	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1373C>T	X.37:g.63548760G>A	ENSP00000363985:p.Ser458Phe					MTMR8_uc011mou.1_Intron	p.S458F	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			12	1441	-			458			Myotubularin phosphatase.		Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.1373C>T	CCDS14379.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953745	0.53293	.	.	ENSG00000102043	ENST00000374852;ENST00000247400	D	0.93659	-3.26	2.93	2.05	0.26809	Myotubularin phosphatase domain (1);	0.000000	0.44097	U	0.000500	D	0.97676	0.9238	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96018	0.9007	10	0.87932	D	0	.	8.3908	0.32526	0.129:0.0:0.871:0.0	.	458	Q96EF0	MTMR8_HUMAN	F	458;344	ENSP00000363985:S458F	ENSP00000247400:S344F	S	-	2	0	MTMR8	63465485	1.000000	0.71417	0.350000	0.25708	0.937000	0.57800	4.364000	0.59479	0.434000	0.26340	0.506000	0.49869	TCT		0.403	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2		NM_017677		5	5	0	0	0	0.000602	0	5	5		
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.2		NaN																	6	Substitution - coding silent(6)		lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	ovary(2)	2						c.(1210-1212)ACC>ACG		ring finger protein, LIM domain interacting							102.0	92.0	95.0					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811938G>C	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1212C>G	X.37:g.73811938G>C						RLIM_uc004ebw.2_Silent_p.T404T	p.T404T	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			5	1502	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1		NM_016120		5	65	0	0	0	0.000602	0	5	65		
TGIF2LX	90316	broad.mit.edu	37	X	89177629	89177629	+	Missense_Mutation	SNP	A	A	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:89177629A>T	ENST00000561129.2	+	1	675	c.545A>T	c.(544-546)aAg>aTg	p.K182M	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.K182M			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	182					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CCTAGCCAGAAGCTCACCGGA	0.562																																						uc004efe.2		NaN																	0				ovary(1)|skin(1)	2						c.(544-546)AAG>ATG		TGFB-induced factor homeobox 2-like, X-linked							54.0	59.0	57.0					X																	89177629		2203	4300	6503	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177629A>T	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.545A>T	X.37:g.89177629A>T	ENSP00000453704:p.Lys182Met						p.K182M	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	594	+			182					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.545A>T	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	A	11.58	1.681040	0.29872	.	.	ENSG00000153779	ENST00000283891	T	0.65549	-0.16	2.53	-0.039	0.13878	.	.	.	.	.	T	0.52677	0.1749	L	0.58101	1.795	0.09310	N	1	P	0.46327	0.876	B	0.43360	0.417	T	0.45556	-0.9253	8	.	.	.	0.3529	1.7405	0.02951	0.536:0.0:0.1769:0.2871	.	182	Q8IUE1	TF2LX_HUMAN	M	182	ENSP00000355119:K182M	.	K	+	2	0	TGIF2LX	89064285	0.002000	0.14202	0.003000	0.11579	0.017000	0.09413	0.190000	0.17057	-0.093000	0.12396	0.412000	0.27726	AAG		0.562	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2		NM_138960		7	22	0	0	0	0.001984	0	7	22		
GPRASP2	114928	broad.mit.edu	37	X	101970046	101970046	+	Silent	SNP	T	T	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:101970046T>G	ENST00000535209.1	+	4	1080	c.249T>G	c.(247-249)ggT>ggG	p.G83G	GPRASP2_ENST00000543253.1_Silent_p.G83G|GPRASP2_ENST00000332262.5_Silent_p.G83G			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	83						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						TAATGGGTGGTGCAAGACCCA	0.562																																						uc004ejk.2		NaN																	0				ovary(1)	1						c.(247-249)GGT>GGG		G protein-coupled receptor associated sorting							79.0	77.0	78.0					X																	101970046		2203	4300	6503	SO:0001819	synonymous_variant	114928					cytoplasm	protein binding	g.chrX:101970046T>G	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.249T>G	X.37:g.101970046T>G						GPRASP2_uc004ejl.2_Silent_p.G83G|GPRASP2_uc004ejm.2_Silent_p.G83G|GPRASP2_uc011mrp.1_5'Flank	p.G83G	NM_138437	NP_612446	Q96D09	GASP2_HUMAN			4	1583	+			83					D3DXA0|Q8NAB4	Silent	SNP	ENST00000535209.1	37	c.249T>G	CCDS14501.1																																																																																				0.562	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2		NM_138437		4	58	0	0	0	0.009096	0	4	58		
IGSF1	3547	broad.mit.edu	37	X	130409595	130409595	+	Missense_Mutation	SNP	C	C	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:130409595C>A	ENST00000361420.3	-	16	3120	c.3041G>T	c.(3040-3042)tGg>tTg	p.W1014L	IGSF1_ENST00000370903.3_Missense_Mutation_p.W1019L|IGSF1_ENST00000370904.1_Missense_Mutation_p.W1005L|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Missense_Mutation_p.W1005L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1014	Ig-like C2-type 10.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGTGGATCCCCAGAGCTGCAT	0.537																																						uc004ewd.2		NaN																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(3040-3042)TGG>TTG		immunoglobulin superfamily, member 1 isoform 1							123.0	105.0	111.0					X																	130409595		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409595C>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3041G>T	X.37:g.130409595C>A	ENSP00000355010:p.Trp1014Leu					IGSF1_uc004ewe.3_Missense_Mutation_p.W1008L|IGSF1_uc004ewf.2_Missense_Mutation_p.W994L	p.W1014L	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			16	3279	-			1014			Extracellular (Potential).|Ig-like C2-type 10.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.3041G>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	9.257	1.042295	0.19748	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00649	5.98;5.98;5.98;5.98	4.67	4.67	0.58626	Immunoglobulin-like fold (1);	0.000000	0.41712	D	0.000824	T	0.00666	0.0022	N	0.00966	-1.09	0.32110	N	0.589472	P;B;D	0.64830	0.874;0.05;0.994	P;B;D	0.76575	0.685;0.079;0.988	T	0.69989	-0.4995	10	0.08837	T	0.75	.	11.8031	0.52139	0.0:1.0:0.0:0.0	.	1005;458;1014	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	L	1005;1014;1005;1019	ENSP00000359947:W1005L;ENSP00000355010:W1014L;ENSP00000359941:W1005L;ENSP00000359940:W1019L	ENSP00000355010:W1014L	W	-	2	0	IGSF1	130237276	0.138000	0.22547	0.998000	0.56505	0.218000	0.24690	0.850000	0.27737	2.562000	0.86427	0.600000	0.82982	TGG		0.537	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1				11	64	1	0	4.68919e-08	0.008291	4.99863e-08	11	64		
GPR112	139378	broad.mit.edu	37	X	135441568	135441568	+	Silent	SNP	A	A	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:135441568A>G	ENST00000394143.1	+	11	7389	c.7098A>G	c.(7096-7098)caA>caG	p.Q2366Q	GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Silent_p.Q2161Q|GPR112_ENST00000412101.1_Silent_p.Q2161Q|GPR112_ENST00000370652.1_Silent_p.Q2366Q	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2366					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CACAAGATCAATTGACGTTAT	0.343																																						uc004ezu.1		NaN																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(7096-7098)CAA>CAG		G-protein coupled receptor 112							135.0	115.0	121.0					X																	135441568		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135441568A>G	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7098A>G	X.37:g.135441568A>G						GPR112_uc010nsb.1_Silent_p.Q2161Q|GPR112_uc010nsc.1_Intron	p.Q2366Q	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			11	7389	+	Acute lymphoblastic leukemia(192;0.000127)		2366			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.7098A>G	CCDS35409.1																																																																																				0.343	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1				3	41	0	0	0	0.004672	0	3	41		
CTAG2	30848	broad.mit.edu	37	X	153880682	153880682	+	Missense_Mutation	SNP	C	C	G			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:153880682C>G	ENST00000247306.4	-	2	556	c.493G>C	c.(493-495)Gct>Cct	p.A165P	CTAG2_ENST00000369585.3_Intron	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	165						centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGATCTCTAGCTTTCTGCCCC	0.632																																						uc004fmi.1		NaN																	0				pancreas(1)	1						c.(493-495)GCT>CCT		cancer/testis antigen 2 isoform LAGE-1b							97.0	95.0	96.0					X																	153880682		2203	4297	6500	SO:0001583	missense	30848					centrosome		g.chrX:153880682C>G	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.493G>C	X.37:g.153880682C>G	ENSP00000247306:p.Ala165Pro					CTAG2_uc004fmh.1_Intron	p.A165P	NM_020994	NP_066274	O75638	CTAG2_HUMAN			2	546	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		165					O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Missense_Mutation	SNP	ENST00000247306.4	37	c.493G>C	CCDS14759.1	.	.	.	.	.	.	.	.	.	.	C	6.379	0.437974	0.12104	.	.	ENSG00000126890	ENST00000247306	T	0.30182	1.54	3.08	-4.7	0.03288	.	.	.	.	.	T	0.13372	0.0324	N	0.08118	0	0.09310	N	1	P	0.42993	0.797	B	0.34242	0.178	T	0.20174	-1.0283	9	0.87932	D	0	.	13.1605	0.59542	0.0:0.8262:0.0:0.1738	.	165	O75638	CTAG2_HUMAN	P	165	ENSP00000247306:A165P	ENSP00000247306:A165P	A	-	1	0	CTAG2	153533876	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.492000	0.06467	-0.935000	0.03728	-0.554000	0.04202	GCT		0.632	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1		NM_020994		43	10	0	0	0	0.009718	0	43	10		
CTAG2	30848	broad.mit.edu	37	X	153880694	153880694	+	Missense_Mutation	SNP	C	C	T			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chrX:153880694C>T	ENST00000247306.4	-	2	544	c.481G>A	c.(481-483)Gag>Aag	p.E161K	CTAG2_ENST00000369585.3_Intron	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	161						centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCTGCCCCTCCGGGGAGGCG	0.632																																						uc004fmi.1		NaN																	0				pancreas(1)	1						c.(481-483)GAG>AAG		cancer/testis antigen 2 isoform LAGE-1b							87.0	87.0	87.0					X																	153880694		2203	4298	6501	SO:0001583	missense	30848					centrosome		g.chrX:153880694C>T	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.481G>A	X.37:g.153880694C>T	ENSP00000247306:p.Glu161Lys					CTAG2_uc004fmh.1_Intron	p.E161K	NM_020994	NP_066274	O75638	CTAG2_HUMAN			2	534	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		161					O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Missense_Mutation	SNP	ENST00000247306.4	37	c.481G>A	CCDS14759.1	.	.	.	.	.	.	.	.	.	.	C	8.444	0.851468	0.17034	.	.	ENSG00000126890	ENST00000247306	T	0.28255	1.62	3.16	-3.77	0.04346	.	.	.	.	.	T	0.13157	0.0319	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.11329	0.006	T	0.25082	-1.0142	9	0.87932	D	0	-3.4837	5.254	0.15537	0.0:0.4719:0.1984:0.3296	.	161	O75638	CTAG2_HUMAN	K	161	ENSP00000247306:E161K	ENSP00000247306:E161K	E	-	1	0	CTAG2	153533888	0.015000	0.18098	0.000000	0.03702	0.013000	0.08279	0.827000	0.27421	-0.725000	0.04901	-0.554000	0.04202	GAG		0.632	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1		NM_020994		45	10	0	0	0	0.010771	0	45	10		
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NaN		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		2	Deletion - Frameshift(2)		haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(16-18)CCCfs		notch 2 preproprotein																																				SO:0001589	frameshift_variant	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612003_120612004delGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs					NOTCH2_uc001eil.2_Frame_Shift_Del_p.P6fs|NOTCH2_uc001eim.3_5'UTR	p.P6fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	273_274	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	6					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.17_18delCC	CCDS908.1																																																																																				0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1		NM_024408		12	22	NaN	NaN	NaN	NaN	NaN	12	22	---	---
RHBG	57127	broad.mit.edu	37	1	156339062	156339073	+	In_Frame_Del	DEL	GCCGCGGGCCGG	GCCGCGGGCCGG	-			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr1:156339062_156339073delGCCGCGGGCCGG	ENST00000368249.1	+	1	60_71	c.22_33delGCCGCGGGCCGG	c.(22-33)gccgcgggccggdel	p.AAGR8del	RHBG_ENST00000255013.3_5'UTR|RHBG_ENST00000451864.2_5'UTR|RHBG_ENST00000368246.2_In_Frame_Del_p.AAGR8del|RHBG_ENST00000537040.1_In_Frame_Del_p.AAGR8del|RHBG_ENST00000400992.2_5'UTR	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	8					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCCTAGCCGCGCCGCGGGCCGGCGACTGCAGC	0.67																																						uc010pho.1		NaN																	0				ovary(2)	2						c.(22-33)GCCGCGGGCCGGdel		Rhesus blood group, B glycoprotein																																				SO:0001651	inframe_deletion	57127				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr1:156339062_156339073delGCCGCGGGCCGG	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.22_33delGCCGCGGGCCGG	1.37:g.156339062_156339073delGCCGCGGGCCGG	ENSP00000357232:p.Ala8_Arg11del					RHBG_uc010phm.1_In_Frame_Del_p.AAGR8del|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_5'UTR|RHBG_uc009wrz.2_5'UTR|RHBG_uc001for.2_5'UTR	p.AAGR8del	NM_020407	NP_065140	Q9H310	RHBG_HUMAN			1	60_71	+	Hepatocellular(266;0.158)		8_11			Cytoplasmic (Potential).		A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	In_Frame_Del	DEL	ENST00000368249.1	37	c.22_33delGCCGCGGGCCGG																																																																																					0.670	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2		NM_001256395		16	90	NaN	NaN	NaN	NaN	NaN	16	90	---	---
ITGA8	8516	broad.mit.edu	37	10	15639284	15639301	+	Splice_Site	DEL	CAGTGGTCGAAATCCCTA	CAGTGGTCGAAATCCCTA	-			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr10:15639284_15639301delCAGTGGTCGAAATCCCTA	ENST00000378076.3	-	21	2472_2486	c.2119_2133delTAGGGATTTCGACCACTG	c.(2119-2133)tagggatttcgaccadel	p.*GFRP707del	ITGA8_ENST00000477064.1_5'UTR	NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	707					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ACTCACAGCTCAGTGGTCGAAATCCCTACAATTGCAAA	0.491																																						uc001ioc.1		NaN																	0				ovary(3)|lung(3)	6						c.e21-1		integrin, alpha 8 precursor																																				SO:0001630	splice_region_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15639284_15639301delCAGTGGTCGAAATCCCTA	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2119-1TAGGGATTTCGACCACTG>-	10.37:g.15639284_15639301delCAGTGGTCGAAATCCCTA						ITGA8_uc010qcb.1_Splice_Site_p.G692_splice	p.G707_splice	NM_003638	NP_003629	P53708	ITA8_HUMAN			21	2119	-								B0YJ31|Q5VX94	Splice_Site	DEL	ENST00000378076.3	37	c.2119_splice	CCDS31155.1																																																																																				0.491	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1		NM_003638	In_Frame_Del	8	36	NaN	NaN	NaN	NaN	NaN	8	36	---	---
FOXA1	3169	broad.mit.edu	37	14	38061168	38061169	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr14:38061168_38061169insC	ENST00000250448.2	-	2	881_882	c.820_821insG	c.(820-822)gccfs	p.A274fs	FOXA1_ENST00000540786.1_Frame_Shift_Ins_p.A241fs|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	274					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		cccgccgccggcccccgGCTGC	0.723																																						uc001wuf.2		NaN																	0					0						c.(820-822)GCCfs		forkhead box A1																																				SO:0001589	frameshift_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061168_38061169insC	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.821dupG	14.37:g.38061173_38061173dupC	ENSP00000250448:p.Ala274fs					FOXA1_uc010tpz.1_Frame_Shift_Ins_p.A241fs	p.A274fs	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	1132_1133	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		274					B2R9H6|B7ZAP5|Q9H2A0	Frame_Shift_Ins	INS	ENST00000250448.2	37	c.820_821insG	CCDS9665.1																																																																																				0.723	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1				13	3	NaN	NaN	NaN	NaN	NaN	13	3	---	---
PMM2	5373	broad.mit.edu	37	16	8906913	8906918	+	In_Frame_Del	DEL	GAAAAT	GAAAAT	-	rs34258285	byFrequency	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr16:8906913_8906918delGAAAAT	ENST00000268261.4	+	7	655_660	c.589_594delGAAAAT	c.(589-594)gaaaatdel	p.EN197del	PMM2_ENST00000537352.1_In_Frame_Del_p.EN72del|PMM2_ENST00000539622.1_In_Frame_Del_p.EN114del|PMM2_ENST00000566983.1_In_Frame_Del_p.EN170del|PMM2_ENST00000569958.1_In_Frame_Del_p.EN106del	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	197			E -> A (in CDG1A; dbSNP:rs34258285). {ECO:0000269|PubMed:11058895, ECO:0000269|PubMed:15844218}.		cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	phosphomannomutase activity (GO:0004615)			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						GCGACATGTGGAAAATGACGGTTATA	0.471																																					Esophageal Squamous(154;1308 1842 2827 29799 42829)	uc002czf.3		NaN																	0				ovary(1)	1	GRCh37	CM002843	PMM2	M	rs34258285	c.(589-594)GAAAATdel		phosphomannomutase 2																																				SO:0001651	inframe_deletion	5373				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity	g.chr16:8906913_8906918delGAAAAT	BC008310	CCDS10536.1	16p13	2012-09-06			ENSG00000140650	ENSG00000140650	5.3.1.8		9115	protein-coding gene	gene with protein product	"""phosphomannose isomerase 1"""	601785		CDG1		9140401	Standard	NM_000303		Approved	CDGS, CDG1a, PMI, PMI1	uc002czf.4	O15305	OTTHUMG00000129697	ENST00000268261.4:c.589_594delGAAAAT	16.37:g.8906913_8906918delGAAAAT	ENSP00000268261:p.Glu197_Asn198del					PMM2_uc010uyf.1_RNA|PMM2_uc010uyg.1_In_Frame_Del_p.EN114del|PMM2_uc010uyh.1_In_Frame_Del_p.EN72del|PMM2_uc010buj.2_RNA|PMM2_uc010uyi.1_In_Frame_Del_p.EN50del	p.EN197del	NM_000303	NP_000294	O15305	PMM2_HUMAN			7	659_664	+			197_198					A8K672|B7Z6R0|D3DUF3	In_Frame_Del	DEL	ENST00000268261.4	37	c.589_594delGAAAAT	CCDS10536.1																																																																																				0.471	PMM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251904.1		NM_000303		18	208	NaN	NaN	NaN	NaN	NaN	18	208	---	---
MEGF10	84466	broad.mit.edu	37	5	126784798	126784799	+	Frame_Shift_Ins	INS	-	-	CAAT			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr5:126784798_126784799insCAAT	ENST00000274473.6	+	23	3131_3132	c.2864_2865insCAAT	c.(2863-2868)aacaatfs	p.-957fs	MEGF10_ENST00000510828.1_3'UTR|MEGF10_ENST00000503335.2_Frame_Shift_Ins_p.-957fs	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CAGTCAAAAAACAATCAACTGT	0.446																																						uc003kuh.3		NaN																	0				ovary(4)	4						c.(2863-2865)AACfs		multiple EGF-like-domains 10 precursor																																				SO:0001589	frameshift_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126784798_126784799insCAAT	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2865_2868dupCAAT	5.37:g.126784799_126784802dupCAAT	ENSP00000274473:p.Gln957fs					MEGF10_uc003kui.3_Frame_Shift_Ins_p.N955fs	p.N955fs	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	23	3226_3227	+		Prostate(80;0.165)	955			Cytoplasmic (Potential).|Necessary for formation of large intracellular vacuoles.		Q68DE5|Q8WUL3	Frame_Shift_Ins	INS	ENST00000274473.6	37	c.2864_2865insCAAT	CCDS4142.1																																																																																				0.446	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2		NM_032446		14	23	NaN	NaN	NaN	NaN	NaN	14	23	---	---
PRRC1	133619	broad.mit.edu	37	5	126860380	126860381	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr5:126860380_126860381insA	ENST00000296666.8	+	3	449_450	c.261_262insA	c.(262-264)actfs	p.T88fs	PRRC1_ENST00000512635.2_Frame_Shift_Ins_p.T88fs|PRRC1_ENST00000442138.2_Frame_Shift_Ins_p.T88fs	NM_130809.3	NP_570721.1	Q96M27	PRRC1_HUMAN	proline-rich coiled-coil 1	88	Pro-rich.					Golgi apparatus (GO:0005794)				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		CACCACTTGTTACTTCTATGCC	0.52																																						uc003kuk.2		NaN																	0					0						c.(259-264)GTTACTfs		proline-rich coiled-coil 1																																				SO:0001589	frameshift_variant	133619					Golgi apparatus		g.chr5:126860380_126860381insA	AJ515429	CCDS4143.1, CCDS68943.1	5q23.2	2008-02-05			ENSG00000164244	ENSG00000164244			28164	protein-coding gene	gene with protein product						15541471	Standard	NM_130809		Approved	FLJ32875	uc003kuk.3	Q96M27	OTTHUMG00000128982	ENST00000296666.8:c.262dupA	5.37:g.126860381_126860381dupA	ENSP00000296666:p.Thr88fs					PRRC1_uc003kuj.3_Frame_Shift_Ins_p.V87fs	p.V87fs	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)	3	441_442	+		Prostate(80;0.165)	87_88			Pro-rich.		Q69YM8|Q7L2U7|Q86Y42|Q8IVJ4|Q8IVL4|Q8NEZ7|Q96AJ3	Frame_Shift_Ins	INS	ENST00000296666.8	37	c.261_262insA	CCDS4143.1																																																																																				0.520	PRRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250971.3		NM_130809		63	98	NaN	NaN	NaN	NaN	NaN	63	98	---	---
COL19A1	1310	broad.mit.edu	37	6	70639419	70639419	+	Frame_Shift_Del	DEL	C	C	-	rs112596596	byFrequency	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr6:70639419delC	ENST00000322773.4	+	6	595	c.493delC	c.(493-495)cctfs	p.P165fs		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	165	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.P165S(1)|p.P165F(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGAACTCCGTCCTTTGTTTGA	0.393																																						uc003pfc.1		NaN																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)	4						c.(493-495)CCTfs		alpha 1 type XIX collagen precursor							121.0	117.0	118.0					6																	70639419		2203	4300	6503	SO:0001589	frameshift_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70639419delC		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.493delC	6.37:g.70639419delC	ENSP00000316030:p.Pro165fs					COL19A1_uc010kam.1_Frame_Shift_Del_p.P61fs	p.P165fs	NM_001858	NP_001849	Q14993	COJA1_HUMAN			6	610	+			165			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Frame_Shift_Del	DEL	ENST00000322773.4	37	c.493delC	CCDS4970.1																																																																																				0.393	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1				6	6	NaN	NaN	NaN	NaN	NaN	6	6	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832|rs201838505	byFrequency	TCGA-HQ-A2OE-01A-11D-A202-08	TCGA-HQ-A2OE-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61324839-e90a-49f2-a9c9-629d7b125fe9	af92ee60-ca4f-4396-b0ff-b4b8c0ee0bb4	g.chr9:138715799_138715800insT	ENST00000389532.4	-	10	1460_1461	c.1396_1397insA	c.(1396-1398)accfs	p.T466fs	CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.T477fs|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.T188fs	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	466					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.46																																						uc004cgr.3		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1396-1398)ACCfs		calmodulin regulated spectrin-associated protein																																				SO:0001589	frameshift_variant	157922					cytoplasm|microtubule		g.chr9:138715799_138715800insT	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1397dupA	9.37:g.138715808_138715808dupT	ENSP00000374183:p.Thr466fs					CAMSAP1_uc004cgq.3_Frame_Shift_Ins_p.T356fs|CAMSAP1_uc010nbg.2_Frame_Shift_Ins_p.T188fs	p.T466fs	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	10	1396_1397	-			466					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Frame_Shift_Ins	INS	ENST00000389532.4	37	c.1396_1397insA	CCDS35176.2																																																																																				0.460	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2		XM_351857		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
