#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GRIK3	2899	broad.mit.edu	37	1	37337827	37337827	+	Missense_Mutation	SNP	C	C	T	rs143358361		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:37337827C>T	ENST00000373091.3	-	4	710	c.694G>A	c.(694-696)Gac>Aac	p.D232N	GRIK3_ENST00000373093.4_Missense_Mutation_p.D232N	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	232					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.D232N(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TGGCTGCAGTCGAAGATAATG	0.612																																						uc001caz.2		NA																	1	Substitution - Missense(1)	p.D232N(1)	skin(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(694-696)GAC>AAC		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						63.0	55.0	58.0					1																	37337827		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37337827C>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.694G>A	1.37:g.37337827C>T	ENSP00000362183:p.Asp232Asn					GRIK3_uc001cba.1_Missense_Mutation_p.D232N	p.D232N	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			4	829	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	232			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.694G>A	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	36	5.701574	0.96812	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.83992	-1.79;-1.79	5.43	5.43	0.79202	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.93067	0.7793	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94114	0.7373	10	0.87932	D	0	.	19.2349	0.93855	0.0:1.0:0.0:0.0	.	232;232	A9Z1Z8;Q13003	.;GRIK3_HUMAN	N	232	ENSP00000362183:D232N;ENSP00000362185:D232N	ENSP00000362183:D232N	D	-	1	0	GRIK3	37110414	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.571000	0.86741	0.561000	0.74099	GAC		0.612	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		4	22	0	0	0	0	4	22				
MACF1	23499	broad.mit.edu	37	1	39797559	39797559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:39797559G>A	ENST00000372915.3	+	36	5401	c.5314G>A	c.(5314-5316)Gaa>Aaa	p.E1772K	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.E1767K|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E1804K|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.E207K|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1772					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)			CCGGTTGCTGGAAGCTCAGCT	0.498																																						uc010oiu.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(619-621)GAA>AAA		microfilament and actin filament cross-linker							91.0	89.0	89.0					1																	39797559		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.chr1:39797559G>A	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.5314G>A	1.37:g.39797559G>A	ENSP00000362006:p.Glu1772Lys					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.E207K	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)		1	750	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1772			Plectin 3.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.619G>A		.	.	.	.	.	.	.	.	.	.	G	17.23	3.336772	0.60963	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	D;D	0.82433	-1.61;-1.61	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000013	D	0.92567	0.7639	M	0.89534	3.04	0.80722	D	1	D	0.58268	0.982	D	0.67548	0.952	D	0.92314	0.5860	10	0.41790	T	0.15	.	19.351	0.94387	0.0:0.0:1.0:0.0	.	1772	Q9UPN3	MACF1_HUMAN	K	1772;207	ENSP00000362006:E1772K;ENSP00000289893:E207K	ENSP00000289893:E207K	E	+	1	0	MACF1	39570146	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.675000	0.74493	2.579000	0.87056	0.650000	0.86243	GAA		0.498	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		11	35	0	0	0	0	11	35				
FOXE3	2301	broad.mit.edu	37	1	47882290	47882290	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:47882290C>T	ENST00000335071.2	+	1	547	c.303C>T	c.(301-303)atC>atT	p.I101I		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	101					camera-type eye development (GO:0043010)|cell development (GO:0048468)|positive regulation of epithelial cell proliferation (GO:0050679)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		ACCGCTTCATCACCGAACGCT	0.667																																						uc001crk.2		NA																	0					0						c.(301-303)ATC>ATT		forkhead box E3							34.0	32.0	33.0					1																	47882290		2201	4296	6497	SO:0001819	synonymous_variant	2301				cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation	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.chr1:47882290C>T	AF275722	CCDS550.1	1p32	2008-02-05			ENSG00000186790	ENSG00000186790		"""Forkhead boxes"""	3808	protein-coding gene	gene with protein product		601094		FKHL12		8825632	Standard	NM_012186		Approved	FREAC8	uc001crk.3	Q13461	OTTHUMG00000007954	ENST00000335071.2:c.303C>T	1.37:g.47882290C>T							p.I101I	NM_012186	NP_036318	Q13461	FOXE3_HUMAN		READ - Rectum adenocarcinoma(2;0.0908)	1	547	+			101			Fork-head.		Q5SVY9|Q9NQV9	Silent	SNP	ENST00000335071.2	37	c.303C>T	CCDS550.1																																																																																				0.667	FOXE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021836.1	NM_012186		9	20	0	0	0	0	9	20				
WDR47	22911	broad.mit.edu	37	1	109554140	109554140	+	Silent	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:109554140G>T	ENST00000369962.3	-	5	750	c.528C>A	c.(526-528)atC>atA	p.I176I	WDR47_ENST00000400794.3_Silent_p.I183I|WDR47_ENST00000369965.4_Silent_p.I176I|WDR47_ENST00000357672.3_Silent_p.I148I|WDR47_ENST00000361054.3_Silent_p.I148I			O94967	WDR47_HUMAN	WD repeat domain 47	176					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TATCAGCAGGGATGAATTCTG	0.443																																						uc001dwj.2		NA																	0				ovary(1)	1						c.(526-528)ATC>ATA		WD repeat domain 47 isoform 3							206.0	209.0	208.0					1																	109554140		2203	4296	6499	SO:0001819	synonymous_variant	22911							g.chr1:109554140G>T	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.528C>A	1.37:g.109554140G>T						WDR47_uc001dwl.2_Silent_p.I183I|WDR47_uc001dwi.2_Silent_p.I176I|WDR47_uc001dwk.2_Silent_p.I148I|WDR47_uc010ovf.1_Silent_p.I103I	p.I176I	NM_001142551	NP_001136023	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	5	904	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	176					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Silent	SNP	ENST00000369962.3	37	c.528C>A	CCDS44187.1																																																																																				0.443	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		42	100	1	0	6.46e-13	7.46e-13	42	100				
NUP210L	91181	broad.mit.edu	37	1	154067493	154067493	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:154067493C>G	ENST00000368559.3	-	15	2176	c.2105G>C	c.(2104-2106)gGa>gCa	p.G702A	NUP210L_ENST00000271854.3_Missense_Mutation_p.G702A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	702					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTGTGCTATTCCAATCTTCTC	0.443																																						uc001fdw.2		NA																	0				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(2104-2106)GGA>GCA		nucleoporin 210kDa-like isoform 1							88.0	83.0	84.0					1																	154067493		1860	4108	5968	SO:0001583	missense	91181					integral to membrane		g.chr1:154067493C>G	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2105G>C	1.37:g.154067493C>G	ENSP00000357547:p.Gly702Ala					NUP210L_uc009woq.2_5'UTR|NUP210L_uc010peh.1_Missense_Mutation_p.G702A	p.G702A	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		15	2177	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		702					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.2105G>C	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373510	0.24857	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.23950	1.88;1.88	5.63	-11.3	0.00108	.	2.715370	0.00974	N	0.003296	T	0.02455	0.0075	N	0.12182	0.205	0.09310	N	1	B;B	0.14012	0.009;0.004	B;B	0.12156	0.007;0.004	T	0.12528	-1.0544	10	0.12430	T	0.62	-12.4648	7.1635	0.25677	0.0767:0.5868:0.1535:0.183	.	702;702	E7EP56;Q5VU65	.;P210L_HUMAN	A	702	ENSP00000357547:G702A;ENSP00000271854:G702A	ENSP00000271854:G702A	G	-	2	0	NUP210L	152334117	0.000000	0.05858	0.000000	0.03702	0.783000	0.44284	-0.970000	0.03810	-3.253000	0.00204	-0.378000	0.06908	GGA		0.443	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		10	28	0	0	0	0	10	28				
C1orf189	388701	broad.mit.edu	37	1	154171936	154171936	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:154171936C>G	ENST00000368525.3	-	4	298	c.273G>C	c.(271-273)caG>caC	p.Q91H		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	91										kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CTTTGCCCATCTGATTTAGTT	0.478																																						uc001fee.1		NA																	0					0						c.(271-273)CAG>CAC		hypothetical protein LOC388701							340.0	323.0	329.0					1																	154171936		2203	4300	6503	SO:0001583	missense	388701							g.chr1:154171936C>G		CCDS30876.1	1q21.3	2012-07-27			ENSG00000163263	ENSG00000163263			32305	protein-coding gene	gene with protein product							Standard	NM_001010979		Approved		uc001fee.2	Q5VU69	OTTHUMG00000035982	ENST00000368525.3:c.273G>C	1.37:g.154171936C>G	ENSP00000357511:p.Gln91His						p.Q91H	NM_001010979	NP_001010979	Q5VU69	CA189_HUMAN			4	299	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		91					A1L4E3	Missense_Mutation	SNP	ENST00000368525.3	37	c.273G>C	CCDS30876.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957735	0.34565	.	.	ENSG00000163263	ENST00000368525	.	.	.	4.47	1.43	0.22495	.	0.399963	0.28778	N	0.014165	T	0.15782	0.0380	L	0.50333	1.59	0.21697	N	0.999589	P	0.40794	0.729	P	0.45138	0.471	T	0.11494	-1.0585	9	0.31617	T	0.26	.	5.4462	0.16537	0.158:0.6656:0.0:0.1764	.	91	Q5VU69	CA189_HUMAN	H	91	.	ENSP00000357511:Q91H	Q	-	3	2	C1orf189	152438560	0.063000	0.20901	0.253000	0.24343	0.996000	0.88848	-0.062000	0.11674	0.199000	0.20427	0.655000	0.94253	CAG		0.478	C1orf189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087672.1	NM_001010979		42	221	0	0	0	0	42	221				
PEAR1	375033	broad.mit.edu	37	1	156884446	156884446	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:156884446C>T	ENST00000338302.3	+	24	3195	c.2970C>T	c.(2968-2970)gaC>gaT	p.D990D	PEAR1_ENST00000292357.7_Silent_p.D990D			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	990	Pro-rich.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGACCGAGACTCTGTGGGCT	0.607																																						uc001fqj.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2968-2970)GAC>GAT		platelet endothelial aggregation receptor 1							104.0	100.0	101.0					1																	156884446		2203	4300	6503	SO:0001819	synonymous_variant	375033					integral to membrane		g.chr1:156884446C>T	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.2970C>T	1.37:g.156884446C>T						PEAR1_uc001fqk.1_Silent_p.D615D	p.D990D	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN			23	3086	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		990			Pro-rich.		Q8TEK2	Silent	SNP	ENST00000338302.3	37	c.2970C>T	CCDS30892.1																																																																																				0.607	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		22	65	0	0	0	0	22	65				
FCRL3	115352	broad.mit.edu	37	1	157666929	157666929	+	Splice_Site	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:157666929C>G	ENST00000368184.3	-	6	1136		c.e6+1		FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Splice_Site|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TAGACACTCACTCTGTACACG	0.522																																						uc001frb.2		NA																	0				ovary(3)|breast(1)	4						c.e6+1		Fc receptor-like 3 precursor							79.0	67.0	71.0					1																	157666929		2203	4300	6503	SO:0001630	splice_region_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157666929C>G	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.844+1G>C	1.37:g.157666929C>G						FCRL3_uc001fqx.3_Splice_Site|FCRL3_uc001fqy.3_Splice_Site|FCRL3_uc001fqz.3_Splice_Site_p.R282_splice|FCRL3_uc009wsn.2_Intron|FCRL3_uc009wso.2_Splice_Site|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Splice_Site_p.R282_splice	p.R282_splice	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			6	1136	-	all_hematologic(112;0.0378)							A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Splice_Site	SNP	ENST00000368184.3	37	c.844_splice	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386440	0.25031	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6497	0.88159	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FCRL3	155933553	1.000000	0.71417	0.998000	0.56505	0.022000	0.10575	4.100000	0.57762	2.779000	0.95612	0.491000	0.48974	.		0.522	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939	Intron	17	24	0	0	0	0	17	24				
FCGR3A	2214	broad.mit.edu	37	1	161518211	161518211	+	Splice_Site	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:161518211C>T	ENST00000436743.1	-	4	473	c.319G>A	c.(319-321)Ggc>Agc	p.G107S	RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000540048.1_Splice_Site_p.G107S|FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000367969.3_Splice_Site_p.G143S|FCGR3A_ENST00000443193.1_Splice_Site_p.G142S	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	107	Ig-like C2-type 2.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	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)	ATCAACTCACCGATATGGACT	0.473																																						uc001gat.3		NA																	0				ovary(1)	1						c.(319-321)GGC>AGC		Fc fragment of IgG, low affinity IIIa, 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)						76.0	74.0	74.0					1																	161518211		2203	4294	6497	SO:0001630	splice_region_variant	2214				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161518211C>T	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.319+1G>A	1.37:g.161518211C>T						FCGR3A_uc001gar.2_Missense_Mutation_p.G143S|FCGR3A_uc001gas.2_Missense_Mutation_p.G142S|FCGR3A_uc009wuh.2_Missense_Mutation_p.G106S|FCGR3A_uc009wui.2_Missense_Mutation_p.G107S	p.G107S	NM_001127595	NP_001121067	P08637	FCG3A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	456	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		107			Extracellular (Potential).|Ig-like C2-type 2.		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000436743.1	37	c.319G>A	CCDS44266.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701023	0.30142	.	.	ENSG00000203747	ENST00000367969;ENST00000443193;ENST00000436743;ENST00000367967;ENST00000540048	T;T;T;T;T	0.01438	4.91;4.89;4.93;4.93;4.93	4.43	4.43	0.53597	.	0.648954	0.13409	N	0.389985	T	0.01189	0.0039	M	0.76328	2.33	0.41722	D	0.98951	P;P;B	0.46621	0.584;0.881;0.208	B;B;B	0.36335	0.039;0.222;0.013	T	0.62831	-0.6771	9	.	.	.	.	12.7559	0.57335	0.0:1.0:0.0:0.0	.	107;142;107	P08637;E9PG94;Q9UPY7	FCG3A_HUMAN;.;.	S	143;142;107;107;107	ENSP00000356946:G143S;ENSP00000392047:G142S;ENSP00000416607:G107S;ENSP00000356944:G107S;ENSP00000444971:G107S	.	G	-	1	0	FCGR3A	159784835	0.817000	0.29147	0.946000	0.38457	0.005000	0.04900	1.200000	0.32247	2.455000	0.83008	0.591000	0.81541	GGC		0.473	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569	Missense_Mutation	4	59	0	0	0	0	4	59				
FCGR3A	2214	broad.mit.edu	37	1	161599568	161599568	+	Intron	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:161599568C>T	ENST00000540048.1	-	2	94				FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000367964.2_Splice_Site_p.G107S|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR3B_ENST00000294800.3_Splice_Site_p.G107S|FCGR3B_ENST00000531221.1_Splice_Site_p.G143S			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	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)	ATCAACTCACCGATATGGACT	0.468																																						uc009wul.2		NA																	0					0						c.(319-321)GGC>AGC		low affinity immunoglobulin gamma Fc region	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)						21.0	23.0	23.0					1																	161599568		2116	4267	6383	SO:0001627	intron_variant	2215				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	g.chr1:161599568C>T	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+589G>A	1.37:g.161599568C>T							p.G107S	NM_000570	NP_000561	O75015	FCG3B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	593	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		107					A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37	c.319G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	13.31|13.31	2.200038|2.200038	0.38905|0.38905	.|.	.|.	ENSG00000162747|ENSG00000162747	ENST00000367964;ENST00000294800;ENST00000531221;ENST00000534776|ENST00000421702	T;T;T;T|.	0.02709|.	4.93;4.93;5.03;4.19|.	2.79|2.79	2.79|2.79	0.32731|0.32731	.|.	0.706646|.	0.12710|.	N|.	0.445568|.	T|T	0.46151|0.46151	0.1378|0.1378	L|L	0.56124|0.56124	1.755|1.755	0.35666|0.35666	D|D	0.812895|0.812895	P|.	0.37141|.	0.584|.	B|.	0.19666|.	0.026|.	T|T	0.44847|0.44847	-0.9301|-0.9301	9|5	.|.	.|.	.|.	.|.	9.21|9.21	0.37313|0.37313	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	107|.	O75015|.	FCG3B_HUMAN|.	S|Q	107;107;143;90|127	ENSP00000356941:G107S;ENSP00000294800:G107S;ENSP00000433642:G143S;ENSP00000437084:G90S|.	.|.	G|R	-|-	1|2	0|0	FCGR3B|FCGR3B	159866192|159866192	0.959000|0.959000	0.32827|0.32827	0.736000|0.736000	0.30914|0.30914	0.023000|0.023000	0.10783|0.10783	2.194000|2.194000	0.42668|0.42668	1.564000|1.564000	0.49628|0.49628	0.388000|0.388000	0.25769|0.25769	GGC|CGG		0.468	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		6	40	0	0	0	0	6	40				
MPZL1	9019	broad.mit.edu	37	1	167757121	167757121	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:167757121C>T	ENST00000359523.2	+	6	975	c.773C>T	c.(772-774)tCa>tTa	p.S258L	MPZL1_ENST00000403379.3_3'UTR|MPZL1_ENST00000392121.3_Missense_Mutation_p.S108L	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	258					cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					ATTAACAAGTCAGAGTCTGTG	0.438																																						uc001geo.2		NA																	0				ovary(2)	2						c.(772-774)TCA>TTA		myelin protein zero-like 1 isoform a							106.0	98.0	101.0					1																	167757121		2203	4300	6503	SO:0001583	missense	9019				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity	g.chr1:167757121C>T	AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"""Immunoglobulin superfamily / V-set domain containing"""	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.773C>T	1.37:g.167757121C>T	ENSP00000352513:p.Ser258Leu					MPZL1_uc001gep.2_3'UTR|MPZL1_uc001geq.2_Missense_Mutation_p.S108L|MPZL1_uc009wvh.2_RNA	p.S258L	NM_003953	NP_003944	O95297	MPZL1_HUMAN			6	975	+	all_hematologic(923;0.215)		258			Cytoplasmic (Potential).		B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Missense_Mutation	SNP	ENST00000359523.2	37	c.773C>T	CCDS1264.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806354	0.90623	.	.	ENSG00000197965	ENST00000359523;ENST00000392121	D;D	0.99311	-4.08;-5.73	4.58	4.58	0.56647	.	.	.	.	.	D	0.97964	0.9330	L	0.29908	0.895	0.34850	D	0.741579	P;P	0.50156	0.932;0.58	P;B	0.51135	0.66;0.254	D	0.99636	1.0987	8	0.72032	D	0.01	.	16.5301	0.84355	0.0:1.0:0.0:0.0	.	108;258	B2REC0;O95297	.;MPZL1_HUMAN	L	258;108	ENSP00000352513:S258L;ENSP00000375968:S108L	ENSP00000352513:S258L	S	+	2	0	MPZL1	166023745	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	1.909000	0.39917	2.505000	0.84491	0.650000	0.86243	TCA		0.438	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083655.2	NM_024569		24	30	0	0	0	0	24	30				
PRRC2C	23215	broad.mit.edu	37	1	171509614	171509614	+	Silent	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:171509614A>G	ENST00000338920.4	+	16	3240	c.3003A>G	c.(3001-3003)agA>agG	p.R1001R	PRRC2C_ENST00000426496.2_Silent_p.R1001R|PRRC2C_ENST00000392078.3_Silent_p.R1003R|PRRC2C_ENST00000367742.3_Silent_p.R1003R	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1001					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										GCTCTAACAGAAGGGAAGAAG	0.403																																						uc010pmg.1		NA																	0					0						c.(3001-3003)AGA>AGG		HBxAg transactivated protein 2							25.0	25.0	25.0					1																	171509614		2202	4300	6502	SO:0001819	synonymous_variant	23215						protein C-terminus binding	g.chr1:171509614A>G	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.3003A>G	1.37:g.171509614A>G						BAT2L2_uc010pmh.1_5'UTR	p.R1001R	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			16	3269	+			1001					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Silent	SNP	ENST00000338920.4	37	c.3003A>G	CCDS1296.2																																																																																				0.403	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		6	14	0	0	0	0	6	14				
CACYBP	27101	broad.mit.edu	37	1	174977767	174977767	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:174977767T>C	ENST00000367679.2	+	5	903	c.455T>C	c.(454-456)aTa>aCa	p.I152T	CACYBP_ENST00000367681.2_Missense_Mutation_p.I109T|MRPS14_ENST00000498253.1_5'Flank|CACYBP_ENST00000405362.1_Missense_Mutation_p.I109T	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	152	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.|Interaction with SKP1.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						ACAGTTCTTATATTGTGTAGA	0.338																																						uc001gkj.1		NA																	0					0						c.(454-456)ATA>ACA		calcyclin binding protein isoform 1							97.0	95.0	96.0					1																	174977767		2203	4300	6503	SO:0001583	missense	27101					beta-catenin destruction complex	protein homodimerization activity	g.chr1:174977767T>C	BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.455T>C	1.37:g.174977767T>C	ENSP00000356652:p.Ile152Thr					CACYBP_uc001gki.1_Missense_Mutation_p.I109T	p.I152T	NM_014412	NP_055227	Q9HB71	CYBP_HUMAN			5	880	+			152			Interaction with SKP1.|CS.		B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Missense_Mutation	SNP	ENST00000367679.2	37	c.455T>C	CCDS1315.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.985092	0.74474	.	.	ENSG00000116161	ENST00000367681;ENST00000450101;ENST00000367679;ENST00000405362	T;T;T	0.23950	1.88;1.88;1.88	5.47	5.47	0.80525	CS-like domain (1);CS domain (1);SGS (1);HSP20-like chaperone (1);	0.224065	0.46145	D	0.000312	T	0.42743	0.1216	M	0.75884	2.315	0.45139	D	0.998154	B	0.34015	0.435	P	0.45099	0.469	T	0.42783	-0.9431	10	0.87932	D	0	-16.3541	15.1927	0.73060	0.0:0.0:0.0:1.0	.	152	Q9HB71	CYBP_HUMAN	T	109;125;152;109	ENSP00000356654:I109T;ENSP00000356652:I152T;ENSP00000385771:I109T	ENSP00000356652:I152T	I	+	2	0	CACYBP	173244390	0.996000	0.38824	0.454000	0.27019	0.946000	0.59487	6.399000	0.73248	2.075000	0.62263	0.482000	0.46254	ATA		0.338	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	NM_014412		51	36	0	0	0	0	51	36				
PAPPA2	60676	broad.mit.edu	37	1	176668354	176668354	+	Silent	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:176668354G>T	ENST00000367662.3	+	8	4029	c.2865G>T	c.(2863-2865)ctG>ctT	p.L955L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	955					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GCTTGGAGCTGCTCTTCCAAC	0.592																																						uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(2863-2865)CTG>CTT		pappalysin 2 isoform 1							114.0	115.0	115.0					1																	176668354		2010	4170	6180	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176668354G>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2865G>T	1.37:g.176668354G>T						PAPPA2_uc009www.2_RNA	p.L955L	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			8	4029	+			955					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.2865G>T	CCDS41438.1																																																																																				0.592	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			25	126	1	0	2.8e-10	3.17e-10	25	126				
PAPPA2	60676	broad.mit.edu	37	1	176769219	176769219	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:176769219G>A	ENST00000367662.3	+	21	6317	c.5153G>A	c.(5152-5154)cGt>cAt	p.R1718H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1718	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1718H(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTGGCCGGCGTCAATGGCAC	0.493																																						uc001gkz.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(5152-5154)CGT>CAT		pappalysin 2 isoform 1							133.0	129.0	131.0					1																	176769219		1935	4140	6075	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176769219G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5153G>A	1.37:g.176769219G>A	ENSP00000356634:p.Arg1718His					PAPPA2_uc009www.2_RNA	p.R1718H	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			21	6317	+			1718			Sushi 5.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.5153G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330450	0.60743	.	.	ENSG00000116183	ENST00000367662	T	0.01705	4.68	6.02	3.07	0.35406	.	0.289113	0.33092	N	0.005285	T	0.04048	0.0113	L	0.51422	1.61	0.09310	N	0.999999	D	0.76494	0.999	P	0.58210	0.835	T	0.36286	-0.9754	10	0.38643	T	0.18	-9.571	5.7732	0.18265	0.1489:0.0:0.6041:0.247	.	1718	Q9BXP8	PAPP2_HUMAN	H	1718	ENSP00000356634:R1718H	ENSP00000356634:R1718H	R	+	2	0	PAPPA2	175035842	0.007000	0.16637	0.443000	0.26883	0.918000	0.54935	1.478000	0.35442	0.897000	0.36392	-0.122000	0.15005	CGT		0.493	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			25	86	0	0	0	0	25	86				
QSOX1	5768	broad.mit.edu	37	1	180165521	180165521	+	Silent	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:180165521C>G	ENST00000367602.3	+	12	1667	c.1593C>G	c.(1591-1593)ctC>ctG	p.L531L	QSOX1_ENST00000367600.5_Silent_p.L531L			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	531					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCAACTTCCTCAAGGCCCACT	0.617																																						uc001gnz.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1591-1593)CTC>CTG		quiescin Q6 sulfhydryl oxidase 1 isoform a							151.0	151.0	151.0					1																	180165521		2203	4300	6503	SO:0001819	synonymous_variant	5768				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	g.chr1:180165521C>G	U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.1593C>G	1.37:g.180165521C>G						QSOX1_uc001gny.2_Silent_p.L531L|QSOX1_uc001goa.2_Silent_p.L531L|QSOX1_uc001goc.2_Silent_p.L73L|FLJ23867_uc001god.3_5'Flank	p.L531L	NM_002826	NP_002817	O00391	QSOX1_HUMAN			12	1668	+			531					Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Silent	SNP	ENST00000367602.3	37	c.1593C>G	CCDS1337.1																																																																																				0.617	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		62	140	0	0	0	0	62	140				
ASPM	259266	broad.mit.edu	37	1	197071233	197071233	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:197071233C>G	ENST00000367409.4	-	18	7404	c.7148G>C	c.(7147-7149)aGa>aCa	p.R2383T	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2383					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTGTCTTTGTCTGAGATAATG	0.433																																						uc001gtu.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(7147-7149)AGA>ACA		asp (abnormal spindle)-like, microcephaly							173.0	172.0	172.0					1																	197071233		2203	4299	6502	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197071233C>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7148G>C	1.37:g.197071233C>G	ENSP00000356379:p.Arg2383Thr					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.R231T	p.R2383T	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	7405	-			2383					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.7148G>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	c	7.855	0.724855	0.15439	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.72615	-0.67	4.17	-8.34	0.00988	.	0.676904	0.12596	N	0.455178	T	0.68595	0.3018	L	0.56769	1.78	0.09310	N	1	P;B	0.45011	0.848;0.047	P;B	0.60682	0.878;0.074	T	0.61946	-0.6958	10	0.46703	T	0.11	.	0.8562	0.01183	0.1718:0.2286:0.2519:0.3478	.	369;2383	E7EQ84;Q8IZT6	.;ASPM_HUMAN	T	2383;369	ENSP00000356379:R2383T	ENSP00000356376:R369T	R	-	2	0	ASPM	195337856	0.000000	0.05858	0.000000	0.03702	0.893000	0.52053	-4.601000	0.00210	-2.637000	0.00431	0.558000	0.71614	AGA		0.433	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		37	151	0	0	0	0	37	151				
PTPN14	5784	broad.mit.edu	37	1	214542824	214542824	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:214542824G>C	ENST00000366956.5	-	17	3441	c.3247C>G	c.(3247-3249)Cca>Gca	p.P1083A	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1083	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ACATCTTCTGGACAGCCGTGA	0.438																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.1		NA																	0				breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(3247-3249)CCA>GCA		protein tyrosine phosphatase, non-receptor type							140.0	139.0	140.0					1																	214542824		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214542824G>C	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.3247C>G	1.37:g.214542824G>C	ENSP00000355923:p.Pro1083Ala						p.P1083A	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	17	3518	-			1083			Tyrosine-protein phosphatase.		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.3247C>G	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032627	0.75504	.	.	ENSG00000152104	ENST00000366956	T	0.27890	1.64	5.42	5.42	0.78866	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.69620	0.3131	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79928	-0.1596	10	0.87932	D	0	.	19.2162	0.93780	0.0:0.0:1.0:0.0	.	1083	Q15678	PTN14_HUMAN	A	1083	ENSP00000355923:P1083A	ENSP00000355923:P1083A	P	-	1	0	PTPN14	212609447	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	9.751000	0.98889	2.517000	0.84864	0.585000	0.79938	CCA		0.438	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		37	74	0	0	0	0	37	74				
USH2A	7399	broad.mit.edu	37	1	215848775	215848775	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:215848775C>T	ENST00000307340.3	-	63	12864	c.12478G>A	c.(12478-12480)Gct>Act	p.A4160T	USH2A_ENST00000366943.2_Missense_Mutation_p.A4160T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4160	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAGTAGGAGCCAGCTGAGAG	0.542										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(12478-12480)GCT>ACT		usherin isoform B							55.0	57.0	56.0					1																	215848775		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848775C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12478G>A	1.37:g.215848775C>T	ENSP00000305941:p.Ala4160Thr	HNSCC(13;0.011)					p.A4160T	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	12865	-			4160			Extracellular (Potential).|Fibronectin type-III 27.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.12478G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274901	0.40194	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	D;T	0.85171	-1.95;0.58	5.25	1.18	0.20946	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.318671	0.22113	N	0.064442	T	0.82098	0.4963	M	0.66939	2.045	0.18873	N	0.999982	B	0.22800	0.075	B	0.31614	0.133	T	0.65541	-0.6143	10	0.15952	T	0.53	.	11.6147	0.51083	0.0:0.4425:0.4902:0.0673	.	4160	O75445	USH2A_HUMAN	T	4160	ENSP00000305941:A4160T;ENSP00000355910:A4160T	ENSP00000305941:A4160T	A	-	1	0	USH2A	213915398	0.944000	0.32072	0.004000	0.12327	0.460000	0.32559	1.976000	0.40579	-0.031000	0.13781	-0.172000	0.13284	GCT		0.542	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		12	46	0	0	0	0	12	46				
OBSCN	84033	broad.mit.edu	37	1	228509058	228509058	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:228509058C>A	ENST00000422127.1	+	55	14560	c.14516C>A	c.(14515-14517)gCa>gAa	p.A4839E	OBSCN_ENST00000366707.4_Missense_Mutation_p.A2473E|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1958E|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4839E|OBSCN_ENST00000570156.2_Missense_Mutation_p.A5796E	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4839					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGCCCCAGCAGCCCCCTCT	0.622																																						uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(14515-14517)GCA>GAA		obscurin, cytoskeletal calmodulin and							16.0	18.0	17.0					1																	228509058		1956	4131	6087	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228509058C>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.14516C>A	1.37:g.228509058C>A	ENSP00000409493:p.Ala4839Glu					OBSCN_uc001hsn.2_Missense_Mutation_p.A4839E	p.A4839E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			55	14560	+		Prostate(94;0.0405)	4839					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.14516C>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637168	0.29157	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.61742	0.49;0.08;0.16;0.65	4.68	-1.28	0.09318	.	0.793883	0.11324	N	0.575742	T	0.28433	0.0703	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.14952	-1.0454	10	0.21014	T	0.42	.	3.8738	0.09048	0.4171:0.369:0.1353:0.0786	.	4839;4839	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	E	4839;4839;2473;1958	ENSP00000284548:A4839E;ENSP00000409493:A4839E;ENSP00000355668:A2473E;ENSP00000355670:A1958E	ENSP00000284548:A4839E	A	+	2	0	OBSCN	226575681	0.000000	0.05858	0.000000	0.03702	0.300000	0.27592	0.486000	0.22340	-0.076000	0.12775	0.563000	0.77884	GCA		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		8	25	1	0	3.1e-07	3.43e-07	8	25				
NET1	10276	broad.mit.edu	37	10	5498902	5498902	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:5498902G>A	ENST00000355029.4	+	12	1878	c.1736G>A	c.(1735-1737)cGa>cAa	p.R579Q	NET1_ENST00000542715.1_Missense_Mutation_p.R398Q|NET1_ENST00000380359.3_Missense_Mutation_p.R525Q	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	579					apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCCGGCATCCGAAGAGCGAGG	0.493																																						uc001iia.2		NA																	0				breast(1)	1						c.(1735-1737)CGA>CAA		neuroepithelial cell transforming gene 1 isoform							63.0	67.0	66.0					10																	5498902		2203	4300	6503	SO:0001583	missense	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5498902G>A	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.1736G>A	10.37:g.5498902G>A	ENSP00000347134:p.Arg579Gln					NET1_uc010qar.1_Missense_Mutation_p.R398Q|NET1_uc001iib.2_Missense_Mutation_p.R525Q|NET1_uc010qas.1_Missense_Mutation_p.R398Q	p.R579Q	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN			12	1874	+			579					Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	c.1736G>A	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	G	5.462	0.270244	0.10349	.	.	ENSG00000173848	ENST00000355029;ENST00000542715;ENST00000380359	T;T;T	0.14516	2.66;2.5;2.7	5.38	1.86	0.25419	.	0.243360	0.21270	N	0.077322	T	0.09512	0.0234	L	0.40543	1.245	0.09310	N	1	B;B	0.26547	0.051;0.152	B;B	0.12837	0.005;0.008	T	0.19778	-1.0295	10	0.56958	D	0.05	-1.0136	5.6108	0.17404	0.224:0.1603:0.6157:0.0	.	525;579	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	Q	579;398;525	ENSP00000347134:R579Q;ENSP00000446452:R398Q;ENSP00000369717:R525Q	ENSP00000347134:R579Q	R	+	2	0	NET1	5488902	0.076000	0.21285	0.118000	0.21660	0.010000	0.07245	1.624000	0.37018	1.277000	0.44412	-0.156000	0.13503	CGA		0.493	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		9	38	0	0	0	0	9	38				
CACNB2	783	broad.mit.edu	37	10	18439891	18439891	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:18439891G>A	ENST00000324631.7	+	2	260	c.200G>A	c.(199-201)aGt>aAt	p.S67N	CACNB2_ENST00000467034.1_3'UTR|CACNB2_ENST00000352115.6_Missense_Mutation_p.S67N|CACNB2_ENST00000377328.1_Missense_Mutation_p.S67N|CACNB2_ENST00000377331.2_Missense_Mutation_p.S39N|CACNB2_ENST00000282343.8_Missense_Mutation_p.S39N	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	67					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCTCAAATAGTTTTGTTCGC	0.313																																						uc001ipr.2		NA																	0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(199-201)AGT>AAT		calcium channel, voltage-dependent, beta 2	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						133.0	138.0	136.0					10																	18439891		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18439891G>A	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.200G>A	10.37:g.18439891G>A	ENSP00000320025:p.Ser67Asn					CACNB2_uc009xjz.1_Missense_Mutation_p.S67N|CACNB2_uc001ips.2_Missense_Mutation_p.S67N|CACNB2_uc001ipt.2_Missense_Mutation_p.S67N|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Missense_Mutation_p.S39N|CACNB2_uc001ipv.2_Missense_Mutation_p.S39N|CACNB2_uc009xka.1_Missense_Mutation_p.S39N	p.S67N	NM_201596	NP_963890	Q08289	CACB2_HUMAN			2	260	+			67					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.200G>A	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851609	0.71719	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331	D;T;D;D;D	0.83591	-1.7;1.94;-1.74;-1.69;-1.71	5.93	5.93	0.95920	.	0.344620	0.25347	N	0.031335	D	0.87724	0.6249	L	0.36672	1.1	0.80722	D	1	P;D;B;P;D;B;D	0.69078	0.919;0.997;0.31;0.952;0.996;0.176;0.958	P;D;B;P;D;B;P	0.75484	0.45;0.986;0.113;0.652;0.986;0.227;0.45	D	0.86229	0.1636	10	0.41790	T	0.15	-1.6791	19.1254	0.93380	0.0:0.0:1.0:0.0	.	39;67;39;39;67;67;67	Q5QJA0;A6PVM6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;CACB2_HUMAN	N	67;67;67;39;39	ENSP00000320025:S67N;ENSP00000344474:S67N;ENSP00000366545:S67N;ENSP00000282343:S39N;ENSP00000366548:S39N	ENSP00000282343:S39N	S	+	2	0	CACNB2	18479897	1.000000	0.71417	0.989000	0.46669	0.886000	0.51366	8.365000	0.90108	2.826000	0.97356	0.655000	0.94253	AGT		0.313	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		8	78	0	0	0	0	8	78				
C10orf71	118461	broad.mit.edu	37	10	50532323	50532323	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:50532323C>T	ENST00000374144.3	+	3	2021	c.1733C>T	c.(1732-1734)gCt>gTt	p.A578V	C10orf71_ENST00000323868.4_Missense_Mutation_p.A578V			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	578										endometrium(1)	1						GACCCTACAGCTGACCCCAGT	0.547																																						uc010qgp.1		NA																	0					0						c.(1732-1734)GCT>GTT		hypothetical protein LOC118461 isoform 2							42.0	43.0	43.0					10																	50532323		2004	4175	6179	SO:0001583	missense	118461							g.chr10:50532323C>T	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1733C>T	10.37:g.50532323C>T	ENSP00000363259:p.Ala578Val						p.A578V	NM_199459	NP_955629	Q711Q0	CJ071_HUMAN			3	2072	+			578					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.1733C>T	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756165	0.31137	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.14516	2.5;3.64	5.27	-1.84	0.07809	.	0.527164	0.14408	N	0.321454	T	0.08758	0.0217	L	0.36672	1.1	0.09310	N	1	B	0.19200	0.034	B	0.20955	0.032	T	0.27640	-1.0068	10	0.40728	T	0.16	.	4.4214	0.11482	0.2179:0.3536:0.3502:0.0782	.	578	Q711Q0-3	.	V	578	ENSP00000318713:A578V;ENSP00000363259:A578V	ENSP00000318713:A578V	A	+	2	0	C10orf71	50202329	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	0.060000	0.14342	-0.050000	0.13356	-0.230000	0.12252	GCT		0.547	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		14	8	0	0	0	0	14	8				
STAMBPL1	57559	broad.mit.edu	37	10	90682924	90682924	+	Splice_Site	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:90682924G>C	ENST00000371926.3	+	11	2212		c.e11-1		STAMBPL1_ENST00000371924.1_Splice_Site|STAMBPL1_ENST00000371927.3_Intron|STAMBPL1_ENST00000371922.1_Splice_Site	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1							membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TTCTTTCCTAGATATGCAAAC	0.313																																						uc001kfk.2		NA																	0				ovary(1)	1						c.e11-1		STAM binding protein-like 1							86.0	83.0	84.0					10																	90682924		2203	4300	6503	SO:0001630	splice_region_variant	57559						metal ion binding|metallopeptidase activity|protein binding	g.chr10:90682924G>C	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"""associated molecule with the SH3 domain of STAM (AMSH) like protein"", ""associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"""	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.1255-1G>C	10.37:g.90682924G>C						STAMBPL1_uc010qmx.1_Intron|STAMBPL1_uc009xto.2_Splice_Site|STAMBPL1_uc001kfl.2_Splice_Site_p.I419_splice|STAMBPL1_uc001kfn.2_Splice_Site_p.I253_splice	p.I419_splice	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	11	1678	+		Colorectal(252;0.0381)						B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Splice_Site	SNP	ENST00000371926.3	37	c.1255_splice	CCDS7391.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.043900	0.75732	.	.	ENSG00000138134	ENST00000371926;ENST00000371924;ENST00000371922	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6987	0.91613	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAMBPL1	90672904	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.752000	0.85141	2.763000	0.94921	0.591000	0.81541	.		0.313	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799	Intron	6	20	0	0	0	0	6	20				
PNLIP	5406	broad.mit.edu	37	10	118306919	118306919	+	Missense_Mutation	SNP	C	C	T	rs142749694		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:118306919C>T	ENST00000369221.2	+	3	188	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	54					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.R54C(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TGTCAACACCCGCTTCCTCCT	0.468																																						uc001lcm.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(160-162)CGC>TGC		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	75.0	75.0		160	5.4	1.0	10	dbSNP_134	75	0,8600		0,0,4300	no	missense	PNLIP	NM_000936.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	54/466	118306919	1,13005	2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118306919C>T	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.160C>T	10.37:g.118306919C>T	ENSP00000358223:p.Arg54Cys						p.R54C	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	3	203	+			54					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.160C>T	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116467	0.77323	2.27E-4	0.0	ENSG00000175535	ENST00000369221	D	0.91945	-2.94	5.36	5.36	0.76844	Lipase, N-terminal (1);	0.079288	0.53938	D	0.000049	D	0.97259	0.9104	H	0.96333	3.805	0.58432	D	0.999994	D	0.89917	1.0	D	0.83275	0.996	D	0.97868	1.0284	10	0.87932	D	0	.	14.225	0.65853	0.0:0.8496:0.1504:0.0	.	54	P16233	LIPP_HUMAN	C	54	ENSP00000358223:R54C	ENSP00000358223:R54C	R	+	1	0	PNLIP	118296909	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.998000	0.49465	2.789000	0.95967	0.591000	0.81541	CGC		0.468	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		35	16	0	0	0	0	35	16				
HSPA12A	259217	broad.mit.edu	37	10	118434882	118434882	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:118434882G>C	ENST00000369209.3	-	12	1542	c.1438C>G	c.(1438-1440)Ctg>Gtg	p.L480V	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	480						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CCGCCCACCAGAAAGAGGAAC	0.622																																						uc001lct.2		NA																	0				ovary(1)	1						c.(1438-1440)CTG>GTG		heat shock 70kDa protein 12A							13.0	15.0	14.0					10																	118434882		1922	4106	6028	SO:0001583	missense	259217						ATP binding	g.chr10:118434882G>C	AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1438C>G	10.37:g.118434882G>C	ENSP00000358211:p.Leu480Val					HSPA12A_uc001lcu.2_Missense_Mutation_p.L397V	p.L480V	NM_025015	NP_079291	O43301	HS12A_HUMAN		all cancers(201;0.0158)	12	1543	-			480						Missense_Mutation	SNP	ENST00000369209.3	37	c.1438C>G	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834631	0.71373	.	.	ENSG00000165868	ENST00000369209	T	0.40225	1.04	6.06	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	M	0.68952	2.095	0.58432	D	0.999998	D	0.58620	0.983	D	0.63877	0.919	T	0.49652	-0.8917	10	0.24483	T	0.36	.	14.7854	0.69800	0.0685:0.0:0.9315:0.0	.	480	O43301	HS12A_HUMAN	V	480	ENSP00000358211:L480V	ENSP00000358211:L480V	L	-	1	2	HSPA12A	118424872	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.194000	0.51005	2.882000	0.98803	0.655000	0.94253	CTG		0.622	HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015		4	12	0	0	0	0	4	12				
CPXM2	119587	broad.mit.edu	37	10	125526664	125526664	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:125526664G>A	ENST00000241305.3	-	10	1458	c.1304C>T	c.(1303-1305)tCg>tTg	p.S435L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	435					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		TCCCAGCTCCGAGCCCTGGAG	0.552																																						uc001lhk.1		NA																	0				ovary(2)	2						c.(1303-1305)TCG>TTG		carboxypeptidase X (M14 family), member 2							83.0	82.0	82.0					10																	125526664		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125526664G>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1304C>T	10.37:g.125526664G>A	ENSP00000241305:p.Ser435Leu					CPXM2_uc001lhj.2_RNA	p.S435L	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	10	1629	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	435					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.1304C>T	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	31	5.059390	0.93846	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.03124	4.04	4.69	4.69	0.59074	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.23727	0.0574	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.05582	-1.0876	10	0.62326	D	0.03	-15.6528	17.8309	0.88682	0.0:0.0:1.0:0.0	.	435	Q8N436	CPXM2_HUMAN	L	435;268;435	ENSP00000241305:S435L	ENSP00000241305:S435L	S	-	2	0	CPXM2	125516654	1.000000	0.71417	0.987000	0.45799	0.944000	0.59088	9.621000	0.98376	2.420000	0.82092	0.650000	0.86243	TCG		0.552	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		21	22	0	0	0	0	21	22				
EDRF1	26098	broad.mit.edu	37	10	127429569	127429569	+	Splice_Site	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr10:127429569G>C	ENST00000356792.4	+	17	2402		c.e17-1		C10orf137_ENST00000337623.3_Splice_Site	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN							regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTTCTAAACAGATACTTATTG	0.378																																						uc001liq.1		NA																	0				ovary(5)|large_intestine(3)|lung(2)	10						c.e17-1		erythroid differentiation-related factor 1							123.0	125.0	124.0					10																	127429569		2203	4300	6503	SO:0001630	splice_region_variant	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127429569G>C																												ENST00000356792.4:c.2171-1G>C	10.37:g.127429569G>C						C10orf137_uc001lin.2_Splice_Site_p.D690_splice|C10orf137_uc001lio.1_Splice_Site_p.D690_splice|C10orf137_uc001lip.1_Splice_Site_p.D428_splice|C10orf137_uc001lir.2_Splice_Site_p.D218_splice|C10orf137_uc001lis.1_Splice_Site_p.D50_splice	p.D724_splice	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN			17	2464	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)						B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Splice_Site	SNP	ENST00000356792.4	37	c.2171_splice	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941982	0.34283	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623;ENST00000368813	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4119	0.94677	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C10orf137	127419559	1.000000	0.71417	0.954000	0.39281	0.103000	0.19146	9.476000	0.97823	2.596000	0.87737	0.650000	0.86243	.		0.378	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1		Intron	29	100	0	0	0	0	29	100				
SLC17A6	57084	broad.mit.edu	37	11	22363086	22363086	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr11:22363086G>A	ENST00000263160.3	+	2	536	c.99G>A	c.(97-99)aaG>aaA	p.K33K		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	33					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGCTGGAGAAGAAGCAAGACA	0.642																																						uc001mqk.2		NA																	0				ovary(3)|breast(1)	4						c.(97-99)AAG>AAA		solute carrier family 17 (sodium-dependent							54.0	60.0	58.0					11																	22363086		2203	4300	6503	SO:0001819	synonymous_variant	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22363086G>A	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.99G>A	11.37:g.22363086G>A							p.K33K	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			2	512	+			33			Cytoplasmic (Potential).		A6NKS2	Silent	SNP	ENST00000263160.3	37	c.99G>A	CCDS7856.1																																																																																				0.642	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		11	45	0	0	0	0	11	45				
SLC43A1	8501	broad.mit.edu	37	11	57268800	57268800	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr11:57268800C>T	ENST00000278426.3	-	3	512	c.157G>A	c.(157-159)Gag>Aag	p.E53K	SLC43A1_ENST00000528450.1_Missense_Mutation_p.E53K|SLC43A1_ENST00000533515.1_5'Flank	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GTGCTGCTCTCAGCTGAGGAG	0.607																																						uc001nkk.2		NA																	0					0						c.(157-159)GAG>AAG		solute carrier family 43, member 1							73.0	62.0	66.0					11																	57268800		2201	4296	6497	SO:0001583	missense	8501				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity	g.chr11:57268800C>T	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.157G>A	11.37:g.57268800C>T	ENSP00000278426:p.Glu53Lys					SLC43A1_uc001nkl.2_Missense_Mutation_p.E53K	p.E53K	NM_003627	NP_003618	O75387	LAT3_HUMAN			3	275	-			53						Missense_Mutation	SNP	ENST00000278426.3	37	c.157G>A	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	C	9.241	1.038408	0.19669	.	.	ENSG00000149150	ENST00000278426;ENST00000528450;ENST00000533066;ENST00000533263	T;T;T;T	0.53640	0.61;0.61;0.61;0.61	4.65	0.566	0.17317	Major facilitator superfamily domain, general substrate transporter (1);	0.587013	0.10319	U	0.688968	T	0.32941	0.0846	L	0.38531	1.155	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27020	-1.0086	10	0.15066	T	0.55	-3.9171	8.2265	0.31572	0.0:0.6336:0.0:0.3664	.	53	O75387	LAT3_HUMAN	K	53	ENSP00000278426:E53K;ENSP00000435673:E53K;ENSP00000435647:E53K;ENSP00000435486:E53K	ENSP00000278426:E53K	E	-	1	0	SLC43A1	57025376	0.003000	0.15002	0.012000	0.15200	0.136000	0.21042	0.950000	0.29122	0.136000	0.18733	0.655000	0.94253	GAG		0.607	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392541.1	NM_003627		5	34	0	0	0	0	5	34				
VWA5A	4013	broad.mit.edu	37	11	123989062	123989062	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr11:123989062A>G	ENST00000456829.2	+	5	664	c.413A>G	c.(412-414)gAt>gGt	p.D138G	VWA5A_ENST00000449321.1_Missense_Mutation_p.D138G|VWA5A_ENST00000361352.5_Missense_Mutation_p.D138G|VWA5A_ENST00000360334.4_Missense_Mutation_p.D138G|VWA5A_ENST00000392744.4_Missense_Mutation_p.D154G|VWA5A_ENST00000392748.1_Missense_Mutation_p.D138G	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	138										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTGGAAGCAGATGGGGCTCTG	0.537																																						uc001pzu.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(412-414)GAT>GGT		BCSC-1 isoform 1							109.0	106.0	107.0					11																	123989062		2201	4299	6500	SO:0001583	missense	4013							g.chr11:123989062A>G	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.413A>G	11.37:g.123989062A>G	ENSP00000407726:p.Asp138Gly					VWA5A_uc001pzr.2_Missense_Mutation_p.D138G|VWA5A_uc001pzs.2_Missense_Mutation_p.D138G|VWA5A_uc010sae.1_Missense_Mutation_p.D154G|VWA5A_uc001pzt.2_Missense_Mutation_p.D138G	p.D138G	NM_001130142	NP_001123614	O00534	VMA5A_HUMAN			5	622	+			138					Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.413A>G	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.647143	0.67358	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000524524;ENST00000530025;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.25579	3.57;1.79;3.57;2.13;2.13;2.13	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.52533	0.1740	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.55321	-0.8159	10	0.48119	T	0.1	-33.7427	13.5992	0.62010	1.0:0.0:0.0:0.0	.	154;138	B4DHS6;O00534	.;VMA5A_HUMAN	G	138;138;138;138;138;138;138;154	ENSP00000407726:D138G;ENSP00000353485:D138G;ENSP00000376504:D138G;ENSP00000355070:D138G;ENSP00000404683:D138G;ENSP00000376501:D154G	ENSP00000353485:D138G	D	+	2	0	VWA5A	123494272	1.000000	0.71417	0.879000	0.34478	0.192000	0.23643	7.813000	0.86123	2.100000	0.63781	0.533000	0.62120	GAT		0.537	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		15	89	0	0	0	0	15	89				
CRACR2A	84766	broad.mit.edu	37	12	3765560	3765560	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:3765560A>C	ENST00000252322.1	-	9	1243	c.775T>G	c.(775-777)Ttt>Gtt	p.F259V	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.F259V|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.F259V	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		259					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CGGGCTTGAAACCTCTCTGTG	0.498																																						uc001qmj.2		NA																	0				ovary(1)|pancreas(1)	2						c.(775-777)TTT>GTT		EF-hand calcium binding domain 4B isoform c							91.0	79.0	83.0					12																	3765560		2203	4300	6503	SO:0001583	missense	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3765560A>C																												ENST00000252322.1:c.775T>G	12.37:g.3765560A>C	ENSP00000252322:p.Phe259Val					EFCAB4B_uc010sen.1_Missense_Mutation_p.F259V|EFCAB4B_uc010seo.1_Missense_Mutation_p.F259V|EFCAB4B_uc001qmi.1_RNA	p.F259V	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		9	1347	-			259			Potential.		B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	c.775T>G	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	a	12.34	1.908328	0.33721	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.20598	2.06;2.56;2.57	5.01	3.87	0.44632	.	0.296953	0.36854	N	0.002364	T	0.33760	0.0874	L	0.51422	1.61	0.34962	D	0.752277	P;D;D	0.89917	0.932;1.0;0.958	P;D;B	0.83275	0.49;0.996;0.386	T	0.38373	-0.9664	10	0.15952	T	0.53	-7.6391	9.0754	0.36517	0.9114:0.0:0.0886:0.0	.	259;259;259	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	V	259	ENSP00000409382:F259V;ENSP00000412496:F259V;ENSP00000252322:F259V	ENSP00000252322:F259V	F	-	1	0	EFCAB4B	3635821	0.987000	0.35691	0.942000	0.38095	0.948000	0.59901	2.573000	0.46007	0.855000	0.35359	0.454000	0.30748	TTT		0.498	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			10	54	0	0	0	0	10	54				
M6PR	4074	broad.mit.edu	37	12	9095069	9095069	+	Silent	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:9095069T>C	ENST00000000412.3	-	6	1122	c.654A>G	c.(652-654)aaA>aaG	p.K218K		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	218					endosome to lysosome transport (GO:0008333)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	mannose binding (GO:0005537)|mannose transmembrane transporter activity (GO:0015578)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)	Alglucosidase alfa(DB01272)	GCTCCATTCCTTTGGCTCCCA	0.478																																						uc001qvf.2		NA																	0					0						c.(652-654)AAA>AAG		cation-dependent mannose-6-phosphate receptor							135.0	118.0	124.0					12																	9095069		2203	4300	6503	SO:0001819	synonymous_variant	4074				endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity	g.chr12:9095069T>C		CCDS8598.1, CCDS73440.1	12p13.31	2013-09-20			ENSG00000003056	ENSG00000003056			6752	protein-coding gene	gene with protein product		154540					Standard	NM_002355		Approved		uc001qvf.3	P20645	OTTHUMG00000168276	ENST00000000412.3:c.654A>G	12.37:g.9095069T>C							p.K218K	NM_002355	NP_002346	P20645	MPRD_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0146)	6	824	-		Hepatocellular(102;0.137)	218			Cytoplasmic (Potential).		A8K528|D3DUV5	Silent	SNP	ENST00000000412.3	37	c.654A>G	CCDS8598.1	.	.	.	.	.	.	.	.	.	.	T	10.68	1.418631	0.25552	.	.	ENSG00000003056	ENST00000539143;ENST00000537621	.	.	.	5.75	-6.0	0.02206	.	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54255	-0.8321	6	0.12103	T	0.63	-22.4157	17.3242	0.87243	0.0:0.2147:0.0:0.7853	.	.	.	.	R	29;96	.	ENSP00000444684:K96R	K	-	2	0	M6PR	8986336	0.593000	0.26840	0.830000	0.32933	0.993000	0.82548	-0.210000	0.09345	-1.100000	0.03030	-0.242000	0.12053	AAG		0.478	M6PR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399130.1			47	269	0	0	0	0	47	269				
ESPL1	9700	broad.mit.edu	37	12	53663848	53663848	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:53663848G>A	ENST00000257934.4	+	3	1213	c.1122G>A	c.(1120-1122)ctG>ctA	p.L374L	ESPL1_ENST00000552462.1_Silent_p.L374L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	374					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCTCTCTTCTGCAGCAGCTGC	0.537																																					Colon(53;1069 1201 2587 5382)	uc001sck.2		NA																	0				lung(1)|kidney(1)|skin(1)	3						c.(1120-1122)CTG>CTA		separase							77.0	80.0	79.0					12																	53663848		2174	4281	6455	SO:0001819	synonymous_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53663848G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1122G>A	12.37:g.53663848G>A						ESPL1_uc001scj.2_Silent_p.L49L	p.L374L	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			3	1213	+			374						Silent	SNP	ENST00000257934.4	37	c.1122G>A	CCDS8852.1																																																																																				0.537	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		23	11	0	0	0	0	23	11				
HOXC4	3221	broad.mit.edu	37	12	54448755	54448755	+	Silent	SNP	C	C	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:54448755C>A	ENST00000430889.2	+	2	607	c.561C>A	c.(559-561)atC>atA	p.I187I	HOXC4_ENST00000609810.1_Silent_p.I187I|HOXC4_ENST00000303406.4_Silent_p.I187I	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	187					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GGAGAAGGATCGAGATCGCCC	0.537																																						uc001seu.2		NA																	0				ovary(1)	1						c.(559-561)ATC>ATA		homeobox C4							50.0	47.0	48.0					12																	54448755		2203	4300	6503	SO:0001819	synonymous_variant	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54448755C>A		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.561C>A	12.37:g.54448755C>A						HOXC4_uc001sex.2_Silent_p.I187I	p.I187I	NM_014620	NP_055435	P09017	HXC4_HUMAN			4	1241	+			187			Homeobox.			Silent	SNP	ENST00000430889.2	37	c.561C>A	CCDS8873.1																																																																																				0.537	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			13	8	1	0	3.46e-05	3.74e-05	13	8				
GDF11	10220	broad.mit.edu	37	12	56143303	56143303	+	Silent	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:56143303T>C	ENST00000257868.5	+	3	898	c.861T>C	c.(859-861)ctT>ctC	p.L287L		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	287					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						TCATGGAGCTTCGAGTCCTAG	0.572																																						uc001shq.2		NA																	0				kidney(1)	1						c.(859-861)CTT>CTC		growth differentiation factor 11 precursor							62.0	64.0	63.0					12																	56143303		2203	4298	6501	SO:0001819	synonymous_variant	10220				growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:56143303T>C	AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.861T>C	12.37:g.56143303T>C						GDF11_uc010spv.1_Silent_p.L287L	p.L287L	NM_005811	NP_005802	O95390	GDF11_HUMAN			3	898	+			287					Q9UID1|Q9UID2	Silent	SNP	ENST00000257868.5	37	c.861T>C	CCDS8891.1	.	.	.	.	.	.	.	.	.	.	T	9.788	1.177124	0.21787	.	.	ENSG00000135414	ENST00000546799	.	.	.	4.95	2.36	0.29203	.	.	.	.	.	T	0.51958	0.1705	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43360	-0.9396	4	.	.	.	-6.8529	4.9958	0.14237	0.2941:0.0:0.1623:0.5436	.	.	.	.	S	260	.	.	F	+	2	0	GDF11	54429570	0.993000	0.37304	1.000000	0.80357	0.996000	0.88848	0.202000	0.17295	0.833000	0.34828	0.459000	0.35465	TTC		0.572	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407842.3			3	64	0	0	0	0	3	64				
HNF1A	6927	broad.mit.edu	37	12	121426777	121426777	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr12:121426777G>A	ENST00000257555.6	+	2	694	c.468G>A	c.(466-468)acG>acA	p.T156T	HNF1A_ENST00000402929.1_Silent_p.T156T|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000541395.1_Silent_p.T156T|HNF1A_ENST00000544413.1_Silent_p.T156T|HNF1A_ENST00000400024.2_Silent_p.T156T|HNF1A_ENST00000543427.1_Silent_p.T39T			P20823	HNF1A_HUMAN	HNF1 homeobox A	156	Interaction with DNA.				glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCATGAAGACGCAGAAGCGGG	0.622									Hepatic Adenoma, Familial Clustering of																													uc001tzg.2		NA																	0				liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1)	116						c.(466-468)ACG>ACA		hepatic nuclear factor-1-alpha							140.0	110.0	120.0					12																	121426777		2203	4300	6503	SO:0001819	synonymous_variant	6927	Hepatic_Adenoma_Familial_Clustering_of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121426777G>A	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.468G>A	12.37:g.121426777G>A						HNF1A_uc001tze.1_Silent_p.T156T|HNF1A_uc001tzf.2_Silent_p.T156T|HNF1A_uc010szn.1_Silent_p.T156T	p.T156T	NM_000545	NP_000536	P20823	HNF1A_HUMAN			2	491	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		156			Interaction with DNA.		A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Silent	SNP	ENST00000257555.6	37	c.468G>A	CCDS9209.1																																																																																				0.622	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		10	19	0	0	0	0	10	19				
BRCA2	675	broad.mit.edu	37	13	32913203	32913203	+	Missense_Mutation	SNP	G	G	A	rs397507338		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr13:32913203G>A	ENST00000380152.3	+	11	4944	c.4711G>A	c.(4711-4713)Gag>Aag	p.E1571K	BRCA2_ENST00000544455.1_Missense_Mutation_p.E1571K			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1571	Interaction with POLH.|Required for stimulation of POLH DNA polymerization activity.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAGTACAGAGAGGCCTGTAA	0.383			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		0				ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(4711-4713)GAG>AAG	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							79.0	83.0	82.0					13																	32913203		2203	4300	6503	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32913203G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4711G>A	13.37:g.32913203G>A	ENSP00000369497:p.Glu1571Lys	TCGA Ovarian(8;0.087)					p.E1571K	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	4938	+		Lung SC(185;0.0262)	1571					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.4711G>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260145	0.23051	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.01126	5.3;5.3	5.51	0.65	0.17812	.	1.001530	0.08050	N	0.996536	T	0.01661	0.0053	L	0.59436	1.845	0.09310	N	1	B	0.17852	0.024	B	0.10450	0.005	T	0.45425	-0.9262	10	0.42905	T	0.14	.	5.3666	0.16117	0.3013:0.2495:0.4491:0.0	.	1571	P51587	BRCA2_HUMAN	K	1571	ENSP00000369497:E1571K;ENSP00000439902:E1571K	ENSP00000369497:E1571K	E	+	1	0	BRCA2	31811203	0.019000	0.18553	0.000000	0.03702	0.017000	0.09413	0.938000	0.28965	-0.209000	0.10156	-0.175000	0.13238	GAG		0.383	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		45	31	0	0	0	0	45	31				
DNAJC15	29103	broad.mit.edu	37	13	43643083	43643083	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr13:43643083A>T	ENST00000379221.2	+	3	602	c.178A>T	c.(178-180)Atc>Ttc	p.I60F	DNAJC15_ENST00000474320.1_3'UTR	NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15	60					cellular response to starvation (GO:0009267)|negative regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902957)|negative regulation of protein complex assembly (GO:0031333)|protein transport (GO:0015031)|regulation of lipid metabolic process (GO:0019216)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		CGCATTTCGGATCTGGAAACC	0.333																																						uc001uyy.2		NA																	0					0						c.(178-180)ATC>TTC		DNAJ domain-containing							102.0	97.0	99.0					13																	43643083		2203	4300	6503	SO:0001583	missense	29103					integral to membrane	heat shock protein binding	g.chr13:43643083A>T	AF126743	CCDS9388.1	13q14.1	2011-09-02	2005-06-30	2005-06-30	ENSG00000120675	ENSG00000120675		"""Heat shock proteins / DNAJ (HSP40)"""	20325	protein-coding gene	gene with protein product		615339	"""DnaJ (Hsp40) homolog, subfamily D, member 1"""	DNAJD1		11358853	Standard	NM_013238		Approved	MCJ	uc001uyy.3	Q9Y5T4	OTTHUMG00000016813	ENST00000379221.2:c.178A>T	13.37:g.43643083A>T	ENSP00000368523:p.Ile60Phe						p.I60F	NM_013238	NP_037370	Q9Y5T4	DJC15_HUMAN		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)	3	579	+		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	60					B2R4L0|Q5T219|Q6X963	Missense_Mutation	SNP	ENST00000379221.2	37	c.178A>T	CCDS9388.1	.	.	.	.	.	.	.	.	.	.	A	6.697	0.497193	0.12762	.	.	ENSG00000120675	ENST00000379221	T	0.44881	0.91	5.05	1.27	0.21489	.	0.265778	0.36268	N	0.002683	T	0.24005	0.0581	L	0.42245	1.32	0.38679	D	0.952481	B	0.09022	0.002	B	0.06405	0.002	T	0.10730	-1.0617	10	0.10111	T	0.7	-11.2009	1.4314	0.02334	0.3549:0.2849:0.2407:0.1195	.	60	Q9Y5T4	DJC15_HUMAN	F	60	ENSP00000368523:I60F	ENSP00000368523:I60F	I	+	1	0	DNAJC15	42541083	0.963000	0.33076	0.999000	0.59377	0.982000	0.71751	0.707000	0.25704	0.076000	0.16826	0.528000	0.53228	ATC		0.333	DNAJC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044709.2	NM_013238		7	12	0	0	0	0	7	12				
LRRC16B	90668	broad.mit.edu	37	14	24532038	24532038	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr14:24532038G>A	ENST00000342740.5	+	29	2843	c.2689G>A	c.(2689-2691)Gaa>Aaa	p.E897K	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	897						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)		CACAGATGATGAACTTGGGAC	0.597																																						uc001wlj.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(2689-2691)GAA>AAA		leucine rich repeat containing 16B							128.0	137.0	134.0					14																	24532038		2203	4300	6503	SO:0001583	missense	90668							g.chr14:24532038G>A	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		ENST00000342740.5:c.2689G>A	14.37:g.24532038G>A	ENSP00000340467:p.Glu897Lys					LRRC16B_uc001wlk.2_5'UTR	p.E897K	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN		GBM - Glioblastoma multiforme(265;0.019)	29	2846	+			897					Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	c.2689G>A	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131164	0.77549	.	.	ENSG00000186648	ENST00000342740	T	0.18810	2.19	5.37	5.37	0.77165	.	0.000000	0.47852	D	0.000212	T	0.35653	0.0939	L	0.40543	1.245	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.01587	-1.1318	10	0.36615	T	0.2	-15.534	14.6064	0.68481	0.0:0.0:1.0:0.0	.	897	Q8ND23	LR16B_HUMAN	K	897	ENSP00000340467:E897K	ENSP00000340467:E897K	E	+	1	0	LRRC16B	23601878	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.833000	0.75334	2.513000	0.84729	0.561000	0.74099	GAA		0.597	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360		8	85	0	0	0	0	8	85				
ADCY4	196883	broad.mit.edu	37	14	24789048	24789048	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr14:24789048G>C	ENST00000310677.4	-	22	2746	c.2633C>G	c.(2632-2634)tCa>tGa	p.S878*	ADCY4_ENST00000554068.2_Nonsense_Mutation_p.S878*|ADCY4_ENST00000418030.2_Nonsense_Mutation_p.S878*	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	878					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GTCTGGGACTGAGGCGAAGAG	0.493																																						uc001wov.2		NA																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(2632-2634)TCA>TGA		adenylate cyclase 4							103.0	90.0	94.0					14																	24789048		2203	4300	6503	SO:0001587	stop_gained	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24789048G>C	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2633C>G	14.37:g.24789048G>C	ENSP00000312126:p.Ser878*					ADCY4_uc001wow.2_Nonsense_Mutation_p.S878*|ADCY4_uc010toh.1_Nonsense_Mutation_p.S564*|ADCY4_uc001wox.2_Nonsense_Mutation_p.S878*|ADCY4_uc001woy.2_Nonsense_Mutation_p.S878*	p.S878*	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	21	2639	-			878			Cytoplasmic (Potential).		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Nonsense_Mutation	SNP	ENST00000310677.4	37	c.2633C>G	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	41	8.879105	0.98988	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	.	.	.	5.24	5.24	0.73138	.	0.000000	0.41605	D	0.000856	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.3687	0.83346	0.0:0.0:1.0:0.0	.	.	.	.	X	878	.	ENSP00000312126:S878X	S	-	2	0	ADCY4	23858888	1.000000	0.71417	0.975000	0.42487	0.949000	0.60115	9.601000	0.98297	2.715000	0.92844	0.655000	0.94253	TCA		0.493	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			6	76	0	0	0	0	6	76				
MIS18BP1	55320	broad.mit.edu	37	14	45679696	45679696	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr14:45679696A>T	ENST00000310806.4	-	14	3497	c.3039T>A	c.(3037-3039)gaT>gaA	p.D1013E		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	1013	Poly-Asp.				CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTGGCAGAATATCATCATCAT	0.373																																						uc001wwf.2		NA																	0					0						c.(3037-3039)GAT>GAA		chromosome 14 open reading frame 106							131.0	118.0	122.0					14																	45679696		2203	4300	6503	SO:0001583	missense	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45679696A>T	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.3039T>A	14.37:g.45679696A>T	ENSP00000309790:p.Asp1013Glu						p.D1013E	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN			14	3498	-			1013			Poly-Asp.		D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	ENST00000310806.4	37	c.3039T>A	CCDS9684.1	.	.	.	.	.	.	.	.	.	.	A	10.53	1.374867	0.24857	.	.	ENSG00000129534	ENST00000310806	T	0.21361	2.01	5.46	1.53	0.23141	.	0.453496	0.27294	N	0.020021	T	0.28928	0.0718	L	0.58428	1.81	0.26808	N	0.96906	D	0.76494	0.999	D	0.68353	0.957	T	0.20438	-1.0275	10	0.02654	T	1	-17.5242	6.8107	0.23802	0.6357:0.287:0.0773:0.0	.	1013	Q6P0N0	M18BP_HUMAN	E	1013	ENSP00000309790:D1013E	ENSP00000309790:D1013E	D	-	3	2	MIS18BP1	44749446	1.000000	0.71417	0.995000	0.50966	0.883000	0.51084	1.868000	0.39509	0.341000	0.23771	0.460000	0.39030	GAT		0.373	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			14	97	0	0	0	0	14	97				
SIPA1L1	26037	broad.mit.edu	37	14	72169178	72169178	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr14:72169178C>T	ENST00000555818.1	+	12	3950	c.3602C>T	c.(3601-3603)aCg>aTg	p.T1201M	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.T676M|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.T1201M|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.T1201M|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1201					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGAAAATCCACGCCTAGCTGG	0.478																																						uc001xms.2		NA																	0				ovary(3)|breast(1)	4						c.(3601-3603)ACG>ATG		signal-induced proliferation-associated 1 like							122.0	103.0	109.0					14																	72169178		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72169178C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3602C>T	14.37:g.72169178C>T	ENSP00000450832:p.Thr1201Met					SIPA1L1_uc001xmt.2_Missense_Mutation_p.T1201M|SIPA1L1_uc001xmu.2_Missense_Mutation_p.T1201M|SIPA1L1_uc001xmv.2_Missense_Mutation_p.T1201M|SIPA1L1_uc010ttm.1_Missense_Mutation_p.T676M|SIPA1L1_uc001xmw.2_Translation_Start_Site	p.T1201M	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	12	3950	+			1201					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.3602C>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738649	0.49045	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	6.02	5.14	0.70334	.	0.417428	0.29321	N	0.012489	T	0.59959	0.2232	L	0.51422	1.61	0.51767	D	0.999934	D;D;D;D;D	0.89917	0.994;1.0;0.99;0.994;1.0	P;D;P;P;D	0.63192	0.804;0.912;0.642;0.669;0.912	T	0.61043	-0.7142	10	0.51188	T	0.08	-19.0983	13.8237	0.63338	0.0:0.9295:0.0:0.0705	.	676;1201;676;1201;1201	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	M	1201;1201;1201;676	ENSP00000370630:T1201M;ENSP00000450832:T1201M;ENSP00000351352:T1201M;ENSP00000440682:T676M	ENSP00000351352:T1201M	T	+	2	0	SIPA1L1	71238931	1.000000	0.71417	0.991000	0.47740	0.023000	0.10783	4.872000	0.63050	1.561000	0.49584	-0.143000	0.13931	ACG		0.478	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		8	27	0	0	0	0	8	27				
GABRB3	2562	broad.mit.edu	37	15	26806279	26806279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr15:26806279G>A	ENST00000311550.5	-	8	991	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	GABRB3_ENST00000400188.3_Missense_Mutation_p.R223W|GABRB3_ENST00000299267.4_Missense_Mutation_p.R294W|GABRB3_ENST00000545868.1_Missense_Mutation_p.R209W|GABRB3_ENST00000541819.2_Missense_Mutation_p.R350W	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	294	Allosteric effector binding.				cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAGGTCTCCCGAAGGTGGGTG	0.473																																						uc001zaz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(880-882)CGG>TGG		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						186.0	172.0	176.0					15																	26806279		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26806279G>A		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.880C>T	15.37:g.26806279G>A	ENSP00000308725:p.Arg294Trp					GABRB3_uc010uae.1_Missense_Mutation_p.R209W|GABRB3_uc001zba.2_Missense_Mutation_p.R294W|GABRB3_uc001zbb.2_Missense_Mutation_p.R350W	p.R294W	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	8	1022	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	294					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.880C>T	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256821	0.80246	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19	5.19	4.27	0.50696	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.054507	0.64402	D	0.000001	D	0.94364	0.8188	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74348	0.958;0.972;0.983	D	0.95257	0.8365	10	0.87932	D	0	.	14.2125	0.65773	0.0:0.0:0.8495:0.1505	.	350;294;294	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	W	294;350;294;223;209	ENSP00000308725:R294W;ENSP00000442408:R350W;ENSP00000299267:R294W;ENSP00000383049:R223W;ENSP00000439169:R209W	ENSP00000299267:R294W	R	-	1	2	GABRB3	24357372	1.000000	0.71417	0.994000	0.49952	0.934000	0.57294	2.918000	0.48829	1.170000	0.42753	0.655000	0.94253	CGG		0.473	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			12	47	0	0	0	0	12	47				
FSIP1	161835	broad.mit.edu	37	15	40057834	40057834	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr15:40057834G>C	ENST00000350221.3	-	4	633	c.424C>G	c.(424-426)Caa>Gaa	p.Q142E		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	142										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TCTAGACCTTGCTTCTTAATT	0.323																																						uc001zki.2		NA																	0				ovary(2)|skin(1)	3						c.(424-426)CAA>GAA		fibrous sheath interacting protein 1							121.0	119.0	120.0					15																	40057834		2202	4299	6501	SO:0001583	missense	161835							g.chr15:40057834G>C	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.424C>G	15.37:g.40057834G>C	ENSP00000280236:p.Gln142Glu						p.Q142E	NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)	4	642	-		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)	142			Potential.		Q6X2C8|Q86Y89	Missense_Mutation	SNP	ENST00000350221.3	37	c.424C>G	CCDS10050.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159654	0.57368	.	.	ENSG00000150667	ENST00000350221	T	0.30714	1.52	5.66	5.66	0.87406	.	0.179933	0.34460	N	0.003947	T	0.43055	0.1230	M	0.71581	2.175	0.37644	D	0.922155	D	0.55385	0.971	P	0.48270	0.572	T	0.48790	-0.9004	9	.	.	.	-4.1129	16.6565	0.85230	0.0:0.0:1.0:0.0	.	142	Q8NA03	FSIP1_HUMAN	E	142	ENSP00000280236:Q142E	.	Q	-	1	0	FSIP1	37845126	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.643000	0.61390	2.665000	0.90641	0.561000	0.74099	CAA		0.323	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		8	25	0	0	0	0	8	25				
BAHD1	22893	broad.mit.edu	37	15	40750963	40750963	+	Silent	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr15:40750963C>G	ENST00000416165.1	+	2	371	c.300C>G	c.(298-300)ccC>ccG	p.P100P	BAHD1_ENST00000561234.1_Silent_p.P100P|BAHD1_ENST00000560846.1_Silent_p.P100P	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	100					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCAAGCCCCCCAGCCCGGCCC	0.657																																						uc001zlu.2		NA																	0					0						c.(298-300)CCC>CCG		bromo adjacent homology domain containing 1							26.0	32.0	30.0					15																	40750963		2203	4300	6503	SO:0001819	synonymous_variant	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40750963C>G	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.300C>G	15.37:g.40750963C>G						BAHD1_uc001zlt.2_Silent_p.P100P|BAHD1_uc010bbp.1_Silent_p.P100P|BAHD1_uc001zlv.2_Silent_p.P100P	p.P100P	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	2	371	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	100					Q8NDF7|Q9Y2F4	Silent	SNP	ENST00000416165.1	37	c.300C>G	CCDS10058.1																																																																																				0.657	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		4	41	0	0	0	0	4	41				
PRR35	146325	broad.mit.edu	37	16	615181	615181	+	Silent	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:615181C>G	ENST00000409413.3	+	3	1869	c.1590C>G	c.(1588-1590)ctC>ctG	p.L530L	PIGQ_ENST00000409527.2_5'Flank|NHLRC4_ENST00000424439.2_5'Flank|NHLRC4_ENST00000540585.1_5'Flank	NM_145270.2	NP_660313.1	P0CG20	PRR35_HUMAN		530										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCCCAGGGCTCCCCCTCGCAG	0.692																																						uc002chk.2		NA																	0				central_nervous_system(1)	1						c.(1588-1590)CTC>CTG		hypothetical protein LOC146325							16.0	20.0	19.0					16																	615181		1989	4145	6134	SO:0001819	synonymous_variant	146325							g.chr16:615181C>G																												ENST00000409413.3:c.1590C>G	16.37:g.615181C>G						NHLRC4_uc002chl.2_5'Flank|PIGQ_uc010bqw.2_5'Flank	p.L530L	NM_145270	NP_660313	P0CG20	CP011_HUMAN			3	1869	+			530					B8ZZ27|Q8N233|Q96AX3|Q96S23	Silent	SNP	ENST00000409413.3	37	c.1590C>G	CCDS45365.1																																																																																				0.692	C16orf11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000333913.1			11	16	0	0	0	0	11	16				
MSLNL	401827	broad.mit.edu	37	16	825511	825511	+	Intron	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:825511G>C	ENST00000442466.1	-	4	279				MSLNL_ENST00000293892.3_Missense_Mutation_p.S417C			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GAGCTGGGCAGAACGGCGCTC	0.682																																						uc002cjz.1		NA																	0				breast(3)|ovary(1)	4						c.(1249-1251)TCT>TGT		mesothelin-like							39.0	51.0	47.0					16																	825511		2138	4217	6355	SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:825511G>C			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.280-8C>G	16.37:g.825511G>C							p.S417C	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN			5	1250	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						Missense_Mutation	SNP	ENST00000442466.1	37	c.1250C>G		.	.	.	.	.	.	.	.	.	.	G	4.989	0.183755	0.09495	.	.	ENSG00000162006	ENST00000293892	T	0.15603	2.41	3.35	0.262	0.15597	.	.	.	.	.	T	0.11793	0.0287	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35251	-0.9796	5	.	.	.	-0.016	5.0515	0.14511	0.4157:0.0:0.5843:0.0	.	.	.	.	C	417	ENSP00000293892:S417C	.	S	-	2	0	MSLNL	765512	0.001000	0.12720	0.315000	0.25238	0.153000	0.21895	0.789000	0.26886	0.257000	0.21650	0.478000	0.44815	TCT		0.682	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		6	14	0	0	0	0	6	14				
ZNF598	90850	broad.mit.edu	37	16	2053657	2053657	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:2053657C>T	ENST00000563630.1	-	2	372	c.130G>A	c.(130-132)Gat>Aat	p.D44N	ZNF598_ENST00000562103.1_Missense_Mutation_p.D44N|ZNF598_ENST00000431526.1_Missense_Mutation_p.D99N			Q86UK7	ZN598_HUMAN	zinc finger protein 598	99							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						AAGTAGATATCATATTTCTTC	0.547											OREG0023548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002cof.1		NA																	0				lung(1)|breast(1)	2						c.(295-297)GAT>AAT		zinc finger protein 598							107.0	115.0	112.0					16																	2053657		2101	4235	6336	SO:0001583	missense	90850					intracellular	zinc ion binding	g.chr16:2053657C>T	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.130G>A	16.37:g.2053657C>T	ENSP00000455882:p.Asp44Asn		OREG0023548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	600	ZNF598_uc002coe.1_5'Flank	p.D99N	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN			4	310	-			99					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	Missense_Mutation	SNP	ENST00000563630.1	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	.	19.48	3.834759	0.71373	.	.	ENSG00000167962	ENST00000431526	T	0.31510	1.49	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	L	0.39692	1.235	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.12066	-1.0562	10	0.19590	T	0.45	-35.8791	16.3969	0.83610	0.0:1.0:0.0:0.0	.	99	Q86UK7	ZN598_HUMAN	N	99	ENSP00000411409:D99N	ENSP00000411409:D99N	D	-	1	0	ZNF598	1993658	1.000000	0.71417	0.997000	0.53966	0.625000	0.37756	7.232000	0.78116	2.360000	0.80028	0.491000	0.48974	GAT		0.547	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		12	42	0	0	0	0	12	42				
PPL	5493	broad.mit.edu	37	16	4934903	4934903	+	Silent	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:4934903G>C	ENST00000345988.2	-	22	3842	c.3753C>G	c.(3751-3753)ctC>ctG	p.L1251L	PPL_ENST00000590782.2_Silent_p.L1249L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1251					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCTCCTCCCTGAGCCGCTGAA	0.522																																						uc002cyd.1		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3751-3753)CTC>CTG		periplakin							140.0	132.0	135.0					16																	4934903		2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934903G>C	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3753C>G	16.37:g.4934903G>C							p.L1251L	NM_002705	NP_002696	O60437	PEPL_HUMAN			22	3843	-			1251			Potential.		O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.3753C>G	CCDS10526.1																																																																																				0.522	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		14	59	0	0	0	0	14	59				
ACSM3	6296	broad.mit.edu	37	16	20781560	20781560	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:20781560G>A	ENST00000289416.5	+	2	679	c.204G>A	c.(202-204)tgG>tgA	p.W68*	ACSM3_ENST00000450120.2_Nonsense_Mutation_p.W23*|ACSM3_ENST00000440284.2_Nonsense_Mutation_p.W68*	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	68					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TGGACCAATGGACTGATAAGG	0.428																																						uc002dhr.2		NA																	0				ovary(1)	1						c.(202-204)TGG>TGA		SA hypertension-associated homolog isoform 1							42.0	42.0	42.0					16																	20781560		2201	4300	6501	SO:0001587	stop_gained	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20781560G>A	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.204G>A	16.37:g.20781560G>A	ENSP00000289416:p.Trp68*					ACSM3_uc002dhq.2_Nonsense_Mutation_p.W68*|ACSM3_uc010vba.1_Nonsense_Mutation_p.W60*	p.W68*	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN			2	391	+			68					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Nonsense_Mutation	SNP	ENST00000289416.5	37	c.204G>A	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479953	0.84747	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	.	.	.	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.5684	19.8936	0.96942	0.0:0.0:1.0:0.0	.	.	.	.	X	68;68;23	.	ENSP00000289416:W68X	W	+	3	0	ACSM3	20689061	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.506000	0.81665	2.793000	0.96121	0.655000	0.94253	TGG		0.428	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		4	30	0	0	0	0	4	30				
CD2BP2	10421	broad.mit.edu	37	16	30364880	30364880	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:30364880G>A	ENST00000305596.3	-	5	792	c.617C>T	c.(616-618)gCc>gTc	p.A206V	CD2BP2_ENST00000569466.1_Missense_Mutation_p.A206V|RP11-347C12.10_ENST00000563252.1_lincRNA	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	206					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CATCTGGTCGGCCAACCCGGA	0.657																																						uc002dxr.2		NA																	0				ovary(1)	1						c.(616-618)GCC>GTC		CD2 antigen (cytoplasmic tail) binding protein							35.0	35.0	35.0					16																	30364880		2197	4300	6497	SO:0001583	missense	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30364880G>A	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.617C>T	16.37:g.30364880G>A	ENSP00000304903:p.Ala206Val					CD2BP2_uc002dxs.2_Missense_Mutation_p.A206V	p.A206V	NM_006110	NP_006101	O95400	CD2B2_HUMAN			4	870	-			206					B2RDX2|Q9ULP2	Missense_Mutation	SNP	ENST00000305596.3	37	c.617C>T	CCDS10675.1	.	.	.	.	.	.	.	.	.	.	g	21.9	4.220897	0.79464	.	.	ENSG00000169217	ENST00000305596	T	0.39406	1.08	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.60702	0.2289	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.56956	-0.7893	10	0.37606	T	0.19	-0.0067	17.7796	0.88519	0.0:0.0:1.0:0.0	.	206	O95400	CD2B2_HUMAN	V	206	ENSP00000304903:A206V	ENSP00000304903:A206V	A	-	2	0	CD2BP2	30272381	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	5.890000	0.69774	2.486000	0.83907	0.655000	0.94253	GCC		0.657	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		3	22	0	0	0	0	3	22				
ZNF689	115509	broad.mit.edu	37	16	30621254	30621254	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:30621254A>G	ENST00000287461.3	-	1	446	c.109T>C	c.(109-111)Tac>Cac	p.Y37H	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_Intron	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GGGGAGAAGTACACGGCCACG	0.692																																						uc002dyx.2		NA																	0					0						c.(109-111)TAC>CAC		zinc finger protein HIT-39							35.0	28.0	30.0					16																	30621254		2197	4300	6497	SO:0001583	missense	115509				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30621254A>G	BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"""Zinc fingers, C2H2-type"", ""-"""	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.109T>C	16.37:g.30621254A>G	ENSP00000287461:p.Tyr37His					ZNF689_uc010bzy.2_Intron	p.Y37H	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	Colorectal(24;0.198)		1	429	-			37			KRAB.		Q658J5	Missense_Mutation	SNP	ENST00000287461.3	37	c.109T>C	CCDS10686.1	.	.	.	.	.	.	.	.	.	.	A	19.25	3.791280	0.70452	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	T	0.01918	4.56	4.97	4.97	0.65823	Krueppel-associated box (4);	0.000000	0.42548	D	0.000687	T	0.09512	0.0234	L	0.58669	1.825	0.35832	D	0.825364	D	0.76494	0.999	D	0.79784	0.993	T	0.05616	-1.0874	10	0.59425	D	0.04	-59.3791	12.9111	0.58181	1.0:0.0:0.0:0.0	.	37	Q96CS4	ZN689_HUMAN	H	37	ENSP00000287461:Y37H	ENSP00000287461:Y37H	Y	-	1	0	ZNF689	30528755	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.721000	0.38032	2.217000	0.71921	0.459000	0.35465	TAC		0.692	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255552.1	NM_138447		2	11	0	0	0	0	2	11				
KLHDC4	54758	broad.mit.edu	37	16	87744911	87744911	+	Missense_Mutation	SNP	G	G	A	rs113844965		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr16:87744911G>A	ENST00000270583.5	-	9	1032	c.974C>T	c.(973-975)tCg>tTg	p.S325L	KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000353170.5_Missense_Mutation_p.S268L|KLHDC4_ENST00000347925.5_Missense_Mutation_p.S294L	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	325										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GAACTCGCCCGACAGGCTCTC	0.582																																						uc002fki.2		NA																	0				pancreas(2)	2						c.(973-975)TCG>TTG		kelch domain containing 4		G	LEU/SER,LEU/SER,LEU/SER	1,4395	2.1+/-5.4	0,1,2197	111.0	104.0	107.0		803,881,974	3.7	0.9	16	dbSNP_132	107	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	KLHDC4	NM_001184854.1,NM_001184856.1,NM_017566.3	145,145,145	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign,benign	268/464,294/490,325/521	87744911	2,12994	2198	4300	6498	SO:0001583	missense	54758							g.chr16:87744911G>A	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.974C>T	16.37:g.87744911G>A	ENSP00000270583:p.Ser325Leu					KLHDC4_uc002fkh.1_5'Flank|KLHDC4_uc010cht.1_Missense_Mutation_p.S144L|KLHDC4_uc002fkj.2_Missense_Mutation_p.S294L|KLHDC4_uc002fkk.2_Missense_Mutation_p.S144L|KLHDC4_uc002fkl.2_Missense_Mutation_p.S268L|KLHDC4_uc010chu.1_Missense_Mutation_p.S144L	p.S325L	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	9	1020	-			325			Kelch 5.		D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Missense_Mutation	SNP	ENST00000270583.5	37	c.974C>T	CCDS10963.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393245	0.25118	2.27E-4	1.16E-4	ENSG00000104731	ENST00000270583;ENST00000316853;ENST00000347925;ENST00000353170	T;T;T	0.74209	-0.82;-0.82;-0.82	4.8	3.69	0.42338	Kelch-type beta propeller (1);	0.325833	0.32343	N	0.006232	T	0.65154	0.2664	L	0.52573	1.65	0.22591	N	0.998959	B;P;B;P	0.37824	0.038;0.609;0.4;0.512	B;B;B;B	0.33568	0.025;0.103;0.035;0.166	T	0.55451	-0.8139	10	0.39692	T	0.17	-19.1585	10.9481	0.47312	0.0:0.0:0.1603:0.8397	.	144;268;294;325	Q9UF94;Q8TBB5-2;Q8TBB5-3;Q8TBB5	.;.;.;KLDC4_HUMAN	L	325;144;294;268	ENSP00000270583:S325L;ENSP00000325717:S294L;ENSP00000262530:S268L	ENSP00000270583:S325L	S	-	2	0	KLHDC4	86302412	1.000000	0.71417	0.937000	0.37676	0.305000	0.27757	4.230000	0.58632	0.689000	0.31550	-0.375000	0.07067	TCG		0.582	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		9	33	0	0	0	0	9	33				
OR1E1	8387	broad.mit.edu	37	17	3301357	3301357	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:3301357C>T	ENST00000322608.2	-	1	347	c.348G>A	c.(346-348)gtG>gtA	p.V116V		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	116					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(2)|lung(5)	10						AGGCCATGGCCACAAGGAGGA	0.577																																						uc002fvj.1		NA																	0					0						c.(346-348)GTG>GTA		olfactory receptor, family 1, subfamily E,							104.0	83.0	90.0					17																	3301357		2203	4300	6503	SO:0001819	synonymous_variant	8387				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3301357C>T	U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"""GPCR / Class A : Olfactory receptors"""	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.348G>A	17.37:g.3301357C>T							p.V116V	NM_003553	NP_003544	P30953	OR1E1_HUMAN			1	348	-			116			Helical; Name=3; (Potential).		O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Silent	SNP	ENST00000322608.2	37	c.348G>A	CCDS11024.1																																																																																				0.577	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	NM_003553		13	26	0	0	0	0	13	26				
GSG2	83903	broad.mit.edu	37	17	3629572	3629572	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:3629572G>A	ENST00000325418.4	+	1	2362	c.2343G>A	c.(2341-2343)atG>atA	p.M781I	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	781	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										ACAGGACAATGCTGAACTTCA	0.433																																						uc002fwp.2		NA																	0					0						c.(2341-2343)ATG>ATA		haspin							53.0	51.0	52.0					17																	3629572		2203	4300	6503	SO:0001583	missense	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3629572G>A	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.2343G>A	17.37:g.3629572G>A	ENSP00000325290:p.Met781Ile					ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank	p.M781I	NM_031965	NP_114171	Q8TF76	HASP_HUMAN			1	2376	+			781			Protein kinase.		Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	c.2343G>A	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	G	9.198	1.027737	0.19512	.	.	ENSG00000177602	ENST00000325418	T	0.04917	3.53	5.51	3.4	0.38934	Domain of unknown function DUF3635 (1);Protein kinase, catalytic domain (1);	0.330848	0.26331	N	0.024983	T	0.02807	0.0084	N	0.03948	-0.315	0.29479	N	0.856486	B	0.14805	0.011	B	0.04013	0.001	T	0.18398	-1.0338	10	0.87932	D	0	-21.6204	6.0803	0.19938	0.1627:0.0:0.6843:0.153	.	781	Q8TF76	HASP_HUMAN	I	781	ENSP00000325290:M781I	ENSP00000325290:M781I	M	+	3	0	GSG2	3576321	0.998000	0.40836	0.984000	0.44739	0.858000	0.48976	0.719000	0.25881	1.471000	0.48121	0.655000	0.94253	ATG		0.433	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965		11	34	0	0	0	0	11	34				
ZZEF1	23140	broad.mit.edu	37	17	3961378	3961378	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:3961378T>C	ENST00000381638.2	-	32	5199	c.5075A>G	c.(5074-5076)aAt>aGt	p.N1692S	RNA5SP434_ENST00000516647.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1692							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGCGAGATCATTGGGTTCCCA	0.458																																						uc002fxe.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(5074-5076)AAT>AGT		zinc finger, ZZ type with EF hand domain 1							93.0	82.0	86.0					17																	3961378		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3961378T>C	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.5075A>G	17.37:g.3961378T>C	ENSP00000371051:p.Asn1692Ser					ZZEF1_uc002fxh.2_Missense_Mutation_p.N6S|ZZEF1_uc002fxi.2_5'UTR|ZZEF1_uc002fxj.1_Missense_Mutation_p.N305S	p.N1692S	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			32	5139	-			1692					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.5075A>G	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	4.726	0.134990	0.09032	.	.	ENSG00000074755	ENST00000381638	T	0.18174	2.23	5.02	5.02	0.67125	.	0.476605	0.25575	N	0.029734	T	0.04952	0.0133	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40813	-0.9543	10	0.02654	T	1	-0.1294	7.2208	0.25985	0.0:0.7097:0.1397:0.1507	.	1692;1692	O43149-2;O43149	.;ZZEF1_HUMAN	S	1692	ENSP00000371051:N1692S	ENSP00000371051:N1692S	N	-	2	0	ZZEF1	3908127	0.006000	0.16342	0.954000	0.39281	0.890000	0.51754	1.834000	0.39171	1.143000	0.42306	-0.119000	0.15052	AAT		0.458	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		10	23	0	0	0	0	10	23				
NLRP1	22861	broad.mit.edu	37	17	5486123	5486123	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:5486123C>T	ENST00000572272.1	-	2	314	c.315G>A	c.(313-315)ctG>ctA	p.L105L	NLRP1_ENST00000354411.3_Silent_p.L105L|NLRP1_ENST00000345221.3_Silent_p.L105L|NLRP1_ENST00000269280.4_Silent_p.L105L|NLRP1_ENST00000262467.5_Silent_p.L105L|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Silent_p.L105L			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	105					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGGGAGACCCCAGGTGGGGTT	0.602																																						uc002gci.2		NA																	0				lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(313-315)CTG>CTA		NLR family, pyrin domain containing 1 isoform 1							43.0	41.0	42.0					17																	5486123		2203	4300	6503	SO:0001819	synonymous_variant	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5486123C>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.315G>A	17.37:g.5486123C>T						NLRP1_uc002gcg.1_Silent_p.L105L|NLRP1_uc002gck.2_Silent_p.L105L|NLRP1_uc002gcj.2_Silent_p.L105L|NLRP1_uc002gcl.2_Silent_p.L105L|NLRP1_uc002gch.3_Silent_p.L105L|NLRP1_uc010clh.2_Silent_p.L105L	p.L105L	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			2	870	-		Colorectal(1115;3.48e-05)	105					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	37	c.315G>A	CCDS42246.1																																																																																				0.602	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		3	32	0	0	0	0	3	32				
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R282W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)CGG>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1038	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	32	0	0	0	0	16	32				
DNAH2	146754	broad.mit.edu	37	17	7667311	7667311	+	Silent	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:7667311C>G	ENST00000572933.1	+	19	4601	c.3141C>G	c.(3139-3141)ctC>ctG	p.L1047L	DNAH2_ENST00000389173.2_Silent_p.L1047L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1047	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGGGCGCCTCCTGGAGCTGC	0.622																																						uc002giu.1		NA																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(3139-3141)CTC>CTG		dynein heavy chain domain 3							61.0	60.0	60.0					17																	7667311		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7667311C>G	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3141C>G	17.37:g.7667311C>G							p.L1047L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			18	3155	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1047			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.3141C>G	CCDS32551.1																																																																																				0.622	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		7	49	0	0	0	0	7	49				
MYH3	4621	broad.mit.edu	37	17	10545560	10545560	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:10545560G>A	ENST00000583535.1	-	17	2043	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F	MYH3_ENST00000226209.7_Silent_p.F652F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	652	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTCTTACCCTGAAAAGGGCAG	0.388																																						uc002gmq.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1954-1956)TTC>TTT		myosin, heavy chain 3, skeletal muscle,							54.0	52.0	53.0					17																	10545560		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10545560G>A		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1956C>T	17.37:g.10545560G>A							p.F652F	NM_002470	NP_002461	P11055	MYH3_HUMAN			16	2033	-			652			Myosin head-like.		Q15492	Silent	SNP	ENST00000583535.1	37	c.1956C>T	CCDS11157.1																																																																																				0.388	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		8	32	0	0	0	0	8	32				
NBR1	4077	broad.mit.edu	37	17	41347008	41347008	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:41347008A>G	ENST00000422280.1	+	14	2161	c.1702A>G	c.(1702-1704)Ata>Gta	p.I568V	NBR1_ENST00000389312.4_Missense_Mutation_p.I568V|NBR1_ENST00000341165.6_Missense_Mutation_p.I568V|NBR1_ENST00000590996.1_Missense_Mutation_p.I568V|NBR1_ENST00000589872.1_Missense_Mutation_p.I568V|NBR1_ENST00000542611.1_Missense_Mutation_p.I547V	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	568	ATG8 family protein-binding.				macroautophagy (GO:0016236)|negative regulation of osteoblast differentiation (GO:0045668)|protein oligomerization (GO:0051259)|regulation of bone mineralization (GO:0030500)|regulation of stress-activated MAPK cascade (GO:0032872)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)	mitogen-activated protein kinase binding (GO:0051019)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		GCTGTTGGATATAAACATTGT	0.438																																						uc010czd.2		NA																	0				skin(1)	1						c.(1702-1704)ATA>GTA		neighbor of BRCA1 gene 1							114.0	112.0	113.0					17																	41347008		1929	4118	6047	SO:0001583	missense	4077				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding	g.chr17:41347008A>G	X76952	CCDS45694.1	17q21.31	2008-02-01	2005-02-15	2005-02-16		ENSG00000188554			6746	protein-coding gene	gene with protein product		166945	"""membrane component, chromosome 17, surface marker 2 (ovarian carcinoma antigen CA125)"""	M17S2		8069304	Standard	XM_006721903		Approved	CA125, KIAA0049, 1A1-3B	uc010whv.2	Q14596		ENST00000422280.1:c.1702A>G	17.37:g.41347008A>G	ENSP00000411250:p.Ile568Val					NBR1_uc010diz.2_Missense_Mutation_p.I568V|NBR1_uc010whu.1_Missense_Mutation_p.I568V|NBR1_uc010whv.1_Missense_Mutation_p.I568V|NBR1_uc010whw.1_Missense_Mutation_p.I547V|NBR1_uc010whx.1_3'UTR	p.I568V	NM_031862	NP_114068	Q14596	NBR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0934)	14	1842	+		Breast(137;0.00086)	568			ATG8 family protein-binding.		Q13173|Q15026|Q5J7Q8|Q96GB6|Q9NRF7	Missense_Mutation	SNP	ENST00000422280.1	37	c.1702A>G	CCDS45694.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.412723	0.83340	.	.	ENSG00000188554	ENST00000422280;ENST00000542611;ENST00000341165;ENST00000389312;ENST00000389311	T;T;T;T	0.57595	0.96;0.39;0.96;0.96	5.75	5.75	0.90469	.	.	.	.	.	T	0.70150	0.3191	L	0.61387	1.9	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.80764	0.994;0.976;0.994	T	0.71922	-0.4446	9	0.56958	D	0.05	-9.5175	16.0539	0.80782	1.0:0.0:0.0:0.0	.	547;568;568	B7Z5R6;Q14596-2;Q14596	.;.;NBR1_HUMAN	V	568;547;568;568;568	ENSP00000411250:I568V;ENSP00000437545:I547V;ENSP00000343479:I568V;ENSP00000373963:I568V	ENSP00000343479:I568V	I	+	1	0	NBR1	38600534	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.940000	0.75917	2.193000	0.70182	0.533000	0.62120	ATA		0.438	NBR1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453461.1	NM_005899		8	26	0	0	0	0	8	26				
MPP3	4356	broad.mit.edu	37	17	41888554	41888554	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:41888554C>G	ENST00000398389.4	-	17	1440	c.1275G>C	c.(1273-1275)aaG>aaC	p.K425N	MPP3_ENST00000398393.1_Missense_Mutation_p.K450N|MPP3_ENST00000475450.1_5'Flank	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	425	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		TCTCATGGCTCTTTCGGGGCC	0.488																																						uc002iei.3		NA																	0				large_intestine(1)|skin(1)	2						c.(1273-1275)AAG>AAC		palmitoylated membrane protein 3							95.0	91.0	92.0					17																	41888554		1931	4147	6078	SO:0001583	missense	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41888554C>G		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1275G>C	17.37:g.41888554C>G	ENSP00000381425:p.Lys425Asn					MPP3_uc002ieh.2_Missense_Mutation_p.K450N|MPP3_uc002iej.2_RNA	p.K425N	NM_001932	NP_001923	Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	17	1441	-		Breast(137;0.00394)	425			Guanylate kinase-like.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	c.1275G>C	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927519	0.52759	.	.	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.19532	2.14;2.14	5.38	2.3	0.28687	Guanylate kinase/L-type calcium channel (1);Guanylate kinase, conserved site (1);Guanylate kinase (2);	0.049406	0.85682	D	0.000000	T	0.32010	0.0815	M	0.82193	2.58	0.48632	D	0.999685	B;B	0.33940	0.433;0.433	B;B	0.42087	0.263;0.375	T	0.13415	-1.0510	10	0.56958	D	0.05	.	8.6311	0.33919	0.0:0.6804:0.0:0.3196	.	425;450	Q13368;D3DX46	MPP3_HUMAN;.	N	450;425	ENSP00000381430:K450N;ENSP00000381425:K425N	ENSP00000381425:K425N	K	-	3	2	MPP3	39244080	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	0.983000	0.29552	0.843000	0.35070	0.655000	0.94253	AAG		0.488	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		12	47	0	0	0	0	12	47				
ITGA3	3675	broad.mit.edu	37	17	48145541	48145541	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:48145541C>G	ENST00000320031.8	+	4	866	c.536C>G	c.(535-537)aCc>aGc	p.T179S	ITGA3_ENST00000544892.1_Intron|ITGA3_ENST00000007722.7_Missense_Mutation_p.T179S	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	179					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|lung development (GO:0030324)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|negative regulation of cell projection organization (GO:0031345)|nephron development (GO:0072006)|neuron migration (GO:0001764)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|regulation of BMP signaling pathway (GO:0030510)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of Wnt signaling pathway (GO:0030111)|renal filtration (GO:0097205)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|skin development (GO:0043588)	basolateral plasma membrane (GO:0016323)|cell periphery (GO:0071944)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integrin alpha3-beta1 complex (GO:0034667)|integrin complex (GO:0008305)|invadopodium membrane (GO:0071438)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	glycoprotein binding (GO:0001948)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GACTGGCAGACCTACCACAAC	0.582																																						uc010dbl.2		NA																	0				ovary(2)|pancreas(1)	3						c.(535-537)ACC>AGC		integrin alpha 3 isoform a precursor							144.0	123.0	130.0					17																	48145541		2203	4300	6503	SO:0001583	missense	3675				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	g.chr17:48145541C>G	M59911	CCDS11557.1, CCDS11558.1	17q21.33	2010-03-23	2003-10-13		ENSG00000005884	ENSG00000005884		"""CD molecules"", ""Integrins"""	6139	protein-coding gene	gene with protein product		605025	"""antigen identified by monoclonal antibody J143"""	MSK18		1655803, 9704023	Standard	NM_005501		Approved	CD49c, VLA3a, VCA-2, GAP-B3	uc010dbm.3	P26006	OTTHUMG00000161890	ENST00000320031.8:c.536C>G	17.37:g.48145541C>G	ENSP00000315190:p.Thr179Ser					ITGA3_uc010dbm.2_Missense_Mutation_p.T179S	p.T179S	NM_002204	NP_002195	P26006	ITA3_HUMAN			4	1000	+			179			Extracellular (Potential).		A7E246|B7ZM80|B9EGQ1|D3DTX4|D3DTX5	Missense_Mutation	SNP	ENST00000320031.8	37	c.536C>G	CCDS11558.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.335639	0.24253	.	.	ENSG00000005884	ENST00000007722;ENST00000538917;ENST00000320031	T;T	0.51574	0.7;0.7	5.36	5.36	0.76844	.	0.355514	0.30455	N	0.009598	T	0.47691	0.1459	L	0.33189	0.99	0.80722	D	1	D;B	0.61697	0.99;0.366	P;B	0.52514	0.701;0.032	T	0.25676	-1.0125	10	0.12103	T	0.63	.	17.8421	0.88718	0.0:1.0:0.0:0.0	.	179;179	P26006-1;P26006	.;ITA3_HUMAN	S	179;165;179	ENSP00000007722:T179S;ENSP00000315190:T179S	ENSP00000007722:T179S	T	+	2	0	ITGA3	45500540	0.092000	0.21681	1.000000	0.80357	0.945000	0.59286	0.910000	0.28571	2.486000	0.83907	0.650000	0.86243	ACC		0.582	ITGA3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000366298.1	NM_005501		8	85	0	0	0	0	8	85				
USH1G	124590	broad.mit.edu	37	17	72915717	72915717	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:72915717G>A	ENST00000319642.1	-	2	1396	c.1214C>T	c.(1213-1215)gCc>gTc	p.A405V		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	405	SAM.				equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CAGGAGGGCGGCAAAGTCCTC	0.627																																						uc002jme.1		NA																	0				skin(2)	2						c.(1213-1215)GCC>GTC		Usher syndrome 1G protein							46.0	43.0	44.0					17																	72915717		2203	4298	6501	SO:0001583	missense	124590				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		g.chr17:72915717G>A	AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.1214C>T	17.37:g.72915717G>A	ENSP00000320076:p.Ala405Val					USH1G_uc010wro.1_Missense_Mutation_p.A302V	p.A405V	NM_173477	NP_775748	Q495M9	USH1G_HUMAN			2	1397	-	all_lung(278;0.172)|Lung NSC(278;0.207)		405			SAM.		Q8N251	Missense_Mutation	SNP	ENST00000319642.1	37	c.1214C>T	CCDS32725.1	.	.	.	.	.	.	.	.	.	.	G	8.703	0.910112	0.17833	.	.	ENSG00000182040	ENST00000319642	T	0.49139	0.79	4.53	0.999	0.19862	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.770174	0.12427	N	0.469921	T	0.18800	0.0451	N	0.02765	-0.5	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16424	-1.0403	10	0.28530	T	0.3	-6.1315	3.7981	0.08747	0.2204:0.5:0.2796:0.0	.	405	Q495M9	USH1G_HUMAN	V	405	ENSP00000320076:A405V	ENSP00000320076:A405V	A	-	2	0	USH1G	70427312	0.662000	0.27439	0.015000	0.15790	0.947000	0.59692	3.769000	0.55303	0.479000	0.27511	0.555000	0.69702	GCC		0.627	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443676.1	NM_173477		4	60	0	0	0	0	4	60				
TNRC6C	57690	broad.mit.edu	37	17	76045225	76045225	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:76045225G>A	ENST00000588061.1	+	5	809	c.82G>A	c.(82-84)Gtc>Atc	p.V28I	TNRC6C_ENST00000335749.4_Missense_Mutation_p.V28I|TNRC6C_ENST00000544502.1_Missense_Mutation_p.V28I|TNRC6C_ENST00000541771.1_Missense_Mutation_p.V28I|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V28I|TNRC6C_ENST00000588847.1_Missense_Mutation_p.V28I			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	28	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGGCGCACTCGTCCAAAGCCC	0.557																																						uc002jud.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(82-84)GTC>ATC		trinucleotide repeat containing 6C isoform 2							53.0	54.0	53.0					17																	76045225		2042	4197	6239	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76045225G>A	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.82G>A	17.37:g.76045225G>A	ENSP00000468647:p.Val28Ile					TNRC6C_uc002juf.2_Missense_Mutation_p.V28I|TNRC6C_uc002jue.2_Missense_Mutation_p.V28I	p.V28I	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		4	682	+			28			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.82G>A	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	9.880	1.201245	0.22121	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.48	4.51	0.55191	.	0.564482	0.20146	N	0.098279	T	0.06188	0.0160	N	0.08118	0	0.29591	N	0.848423	B;B;B	0.13145	0.007;0.007;0.004	B;B;B	0.12156	0.007;0.007;0.002	T	0.31475	-0.9942	10	0.10377	T	0.69	-7.4428	8.7987	0.34896	0.2257:0.0:0.7743:0.0	.	28;28;28	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	I	28	ENSP00000336783:V28I;ENSP00000301624:V28I;ENSP00000440310:V28I;ENSP00000442421:V28I	ENSP00000301624:V28I	V	+	1	0	TNRC6C	73556820	1.000000	0.71417	0.958000	0.39756	0.998000	0.95712	3.317000	0.51968	1.318000	0.45170	0.585000	0.79938	GTC		0.557	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		11	59	0	0	0	0	11	59				
GAREM	64762	broad.mit.edu	37	18	29847915	29847915	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr18:29847915G>C	ENST00000269209.6	-	6	2553	c.2550C>G	c.(2548-2550)atC>atG	p.I850M	GAREM_ENST00000399218.4_Missense_Mutation_p.I849M			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	850	SAM.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										CCTCTGAGAGGATTTCTTCCG	0.418																																						uc002kxl.2		NA																	0				ovary(1)|skin(1)	2						c.(2548-2550)ATC>ATG		family with sequence similarity 59, member A							44.0	45.0	45.0					18																	29847915		2203	4300	6503	SO:0001583	missense	64762							g.chr18:29847915G>C	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.2550C>G	18.37:g.29847915G>C	ENSP00000269209:p.Ile850Met					FAM59A_uc002kxk.1_Missense_Mutation_p.I849M	p.I850M	NM_022751	NP_073588	Q9H706	FA59A_HUMAN			6	2606	-			850			SAM.		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	c.2550C>G	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503451	0.44558	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.15718	2.4;2.4	5.6	3.8	0.43715	Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.32194	0.0821	L	0.52266	1.64	0.58432	D	0.999996	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	T	0.02150	-1.1205	10	0.87932	D	0	-22.6273	8.4773	0.33021	0.0699:0.0:0.656:0.2741	.	850;849	Q9H706;Q9H706-3	FA59A_HUMAN;.	M	849;850	ENSP00000382165:I849M;ENSP00000269209:I850M	ENSP00000269209:I850M	I	-	3	3	FAM59A	28101913	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.963000	0.40452	0.721000	0.32231	0.650000	0.86243	ATC		0.418	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		6	34	0	0	0	0	6	34				
ALPK2	115701	broad.mit.edu	37	18	56184167	56184167	+	Silent	SNP	G	G	T	rs61732436		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr18:56184167G>T	ENST00000361673.3	-	9	6126	c.5913C>A	c.(5911-5913)atC>atA	p.I1971I		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1971	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGTTCCTTTGGATGAGCTCAT	0.502																																						uc002lhj.3		NA																	0				ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(5911-5913)ATC>ATA		heart alpha-kinase							190.0	170.0	177.0					18																	56184167		2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56184167G>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5913C>A	18.37:g.56184167G>T							p.I1971I	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			9	6127	-			1971			Alpha-type protein kinase.		Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.5913C>A	CCDS11966.2																																																																																				0.502	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		18	73	1	0	2.38e-13	2.76e-13	18	73				
MC4R	4160	broad.mit.edu	37	18	58038766	58038766	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr18:58038766G>A	ENST00000299766.3	-	1	1235	c.817C>T	c.(817-819)Cag>Tag	p.Q273*		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	273					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TATGGATTCTGAGGACAAGAG	0.423																																						uc002lie.1		NA																	0				lung(1)	1						c.(817-819)CAG>TAG		melanocortin 4 receptor							115.0	101.0	106.0					18																	58038766		2203	4300	6503	SO:0001587	stop_gained	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58038766G>A	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.817C>T	18.37:g.58038766G>A	ENSP00000299766:p.Gln273*						p.Q273*	NM_005912	NP_005903	P32245	MC4R_HUMAN			1	1236	-		Colorectal(73;0.0946)	273			Extracellular (Potential).		B2RAC3|Q16317|Q3MIJ6	Nonsense_Mutation	SNP	ENST00000299766.3	37	c.817C>T	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	G	39	7.598178	0.98381	.	.	ENSG00000166603	ENST00000299766	.	.	.	5.85	5.85	0.93711	.	0.373878	0.27811	N	0.017753	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	12.5845	0.56410	0.0:0.0:0.8342:0.1658	.	.	.	.	X	273	.	ENSP00000299766:Q273X	Q	-	1	0	MC4R	56189746	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.414000	0.44627	2.773000	0.95371	0.655000	0.94253	CAG		0.423	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		13	51	0	0	0	0	13	51				
IZUMO4	113177	broad.mit.edu	37	19	2096977	2096977	+	Silent	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:2096977G>T	ENST00000395301.3	+	1	97	c.33G>T	c.(31-33)acG>acT	p.T11T	MOB3A_ENST00000357066.3_5'Flank|IZUMO4_ENST00000395307.2_Silent_p.T11T|IZUMO4_ENST00000395296.1_Silent_p.T11T	NM_001039846.1	NP_001034935.1	Q1ZYL8	IZUM4_HUMAN	IZUMO family member 4	11						extracellular region (GO:0005576)|nucleus (GO:0005634)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						TGTGCCTGACGGCGGCGCTGG	0.672											OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002luw.1		NA																	0					0						c.(31-33)ACG>ACT		hypothetical protein LOC113177 isoform 3							41.0	46.0	45.0					19																	2096977		2202	4299	6501	SO:0001819	synonymous_variant	113177					extracellular region		g.chr19:2096977G>T	BC014609	CCDS35499.1, CCDS42458.1	19p13.3	2014-02-17	2010-07-29	2010-07-29	ENSG00000099840	ENSG00000099840		"""-"""	26950	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 36"""	C19orf36		12975309, 19658160, 22957301	Standard	XM_005259480		Approved		uc002luw.1	Q1ZYL8	OTTHUMG00000141290	ENST00000395301.3:c.33G>T	19.37:g.2096977G>T			OREG0025135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	C19orf36_uc002lux.1_Silent_p.T11T|C19orf36_uc010xgw.1_Silent_p.T11T|MOBKL2A_uc002luv.2_5'Flank	p.T11T	NM_001039846	NP_001034935	Q1ZYL8	IZUM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	110	+		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	11					A7RA93|A7RA94|Q6UXA2|Q96FT6|Q96L02	Silent	SNP	ENST00000395301.3	37	c.33G>T	CCDS42458.1																																																																																				0.672	IZUMO4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280536.3	NM_052878		10	61	1	0	0.000978159	0.00102849	10	61				
CREB3L3	84699	broad.mit.edu	37	19	4171169	4171169	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:4171169C>T	ENST00000078445.2	+	8	1119	c.972C>T	c.(970-972)gtC>gtT	p.V324V	CREB3L3_ENST00000602257.1_Silent_p.V322V|CREB3L3_ENST00000602147.1_Missense_Mutation_p.R289C|CREB3L3_ENST00000595923.1_Silent_p.V323V|CREB3L3_ENST00000252587.3_Intron	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	324					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCTGTGTCGCAGTGAGTC	0.602																																						uc002lzl.2		NA																	0				ovary(1)|skin(1)	2						c.(970-972)GTC>GTT		cAMP responsive element binding protein 3-like							63.0	59.0	60.0					19																	4171169		2203	4300	6503	SO:0001819	synonymous_variant	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4171169C>T		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.972C>T	19.37:g.4171169C>T						CREB3L3_uc002lzm.2_Silent_p.V314V|CREB3L3_uc010xib.1_Silent_p.V313V|CREB3L3_uc010xic.1_Missense_Mutation_p.R280C	p.V324V	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1088	+			324			Helical; Signal-anchor for type II membrane protein; (Potential).		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Silent	SNP	ENST00000078445.2	37	c.972C>T	CCDS12121.1																																																																																				0.602	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		21	23	0	0	0	0	21	23				
FDX1L	112812	broad.mit.edu	37	19	10426650	10426650	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:10426650C>T	ENST00000393708.3	-	1	41	c.23G>A	c.(22-24)gGa>gAa	p.G8E	FDX1L_ENST00000541276.1_Missense_Mutation_p.G11E|FDX1L_ENST00000492239.1_5'Flank|CTD-2369P2.12_ENST00000586529.1_Intron|FDX1L_ENST00000494368.1_5'UTR|CTD-2369P2.10_ENST00000452032.2_Missense_Mutation_p.G8E	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	8					oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			ACTCACGCCTCCCCGGGCCAT	0.662																																						uc002mny.1		NA																	0				skin(1)	1						c.(22-24)GGA>GAA		ferredoxin 1-like precursor							19.0	20.0	19.0					19																	10426650		2201	4295	6496	SO:0001583	missense	112812				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding	g.chr19:10426650C>T	AK097022	CCDS32905.1	19p13.2	2012-10-09			ENSG00000267673	ENSG00000267673			30546	protein-coding gene	gene with protein product		614585				12477932	Standard	NM_001031734		Approved	MGC19604	uc002mny.1	Q6P4F2	OTTHUMG00000141299	ENST00000393708.3:c.23G>A	19.37:g.10426650C>T	ENSP00000377311:p.Gly8Glu					FDX1L_uc002mnx.1_RNA	p.G8E	NM_001031734	NP_001026904	Q6P4F2	ADXL_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)		1	42	-			8					Q8N8B8	Missense_Mutation	SNP	ENST00000393708.3	37	c.23G>A	CCDS32905.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114871	0.56505	.	.	ENSG00000167807	ENST00000541276;ENST00000393708	.	.	.	4.96	4.96	0.65561	.	0.429062	0.24074	N	0.041788	T	0.39384	0.1076	N	0.19112	0.55	0.80722	D	1	P	0.41313	0.745	B	0.38562	0.276	T	0.46400	-0.9194	9	0.87932	D	0	-10.0178	13.6978	0.62591	0.0:1.0:0.0:0.0	.	8	Q6P4F2	ADXL_HUMAN	E	11;8	.	ENSP00000341665:G8E	G	-	2	0	FDX1L	10287650	0.007000	0.16637	0.392000	0.26245	0.037000	0.13140	0.624000	0.24462	2.317000	0.78254	0.462000	0.41574	GGA		0.662	FDX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280567.2			3	13	0	0	0	0	3	13				
LDLR	3949	broad.mit.edu	37	19	11224240	11224240	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:11224240C>G	ENST00000558518.1	+	10	1575	c.1388C>G	c.(1387-1389)tCt>tGt	p.S463C	LDLR_ENST00000535915.1_Missense_Mutation_p.S422C|LDLR_ENST00000545707.1_Missense_Mutation_p.S336C|LDLR_ENST00000558013.1_Missense_Mutation_p.S463C|LDLR_ENST00000557933.1_Missense_Mutation_p.S463C|LDLR_ENST00000455727.2_Missense_Mutation_p.S295C	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	463					cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CACGGCGTCTCTTCCTATGAC	0.632																																					GBM(18;201 575 7820 21545)	uc002mqk.3		NA																	1	Unknown(1)		lung(1)	ovary(2)|skin(2)	4						c.(1387-1389)TCT>TGT		low density lipoprotein receptor precursor	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						44.0	42.0	43.0					19																	11224240		2203	4300	6503	SO:0001583	missense	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11224240C>G	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1388C>G	19.37:g.11224240C>G	ENSP00000454071:p.Ser463Cys					LDLR_uc010xlk.1_Missense_Mutation_p.S463C|LDLR_uc010xll.1_Missense_Mutation_p.S422C|LDLR_uc010xlm.1_Missense_Mutation_p.S316C|LDLR_uc010xln.1_Missense_Mutation_p.S336C|LDLR_uc010xlo.1_Missense_Mutation_p.S295C	p.S463C	NM_000527	NP_000518	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	10	1556	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	463			LDL-receptor class B 2.|Extracellular (Potential).		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.1388C>G	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651726	0.47362	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.96685	-4.09;-4.09;-4.09	3.16	0.884	0.19182	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.368160	0.22284	N	0.062087	D	0.97368	0.9139	M	0.87180	2.865	0.23816	N	0.996767	D;D;D;D;D;D	0.64830	0.994;0.987;0.989;0.987;0.994;0.994	D;D;D;D;D;D	0.67548	0.952;0.92;0.941;0.938;0.941;0.941	D	0.92333	0.5875	10	0.72032	D	0.01	.	6.0668	0.19868	0.1856:0.7068:0.0:0.1076	.	295;336;342;422;475;463	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	C	463;336;422;295	ENSP00000437639:S336C;ENSP00000440520:S422C;ENSP00000397829:S295C	ENSP00000252444:S463C	S	+	2	0	LDLR	11085240	0.023000	0.18921	0.001000	0.08648	0.001000	0.01503	2.834000	0.48167	0.074000	0.16767	0.555000	0.69702	TCT		0.632	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2			10	27	0	0	0	0	10	27				
ZNF208	7757	broad.mit.edu	37	19	22157311	22157311	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:22157311A>C	ENST00000397126.4	-	4	673	c.525T>G	c.(523-525)tgT>tgG	p.C175W	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CGTATTCTTTACATTGCAAAT	0.328																																						uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(523-525)TGT>TGG		zinc finger protein 208							105.0	101.0	102.0					19																	22157311		2038	4223	6261	SO:0001583	missense	7757							g.chr19:22157311A>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.525T>G	19.37:g.22157311A>C	ENSP00000380315:p.Cys175Trp					ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.C175W	NM_007153	NP_009084					4	674	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.525T>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	A	9.696	1.153074	0.21371	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.37058	1.22	1.62	0.408	0.16377	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48926	0.1527	.	.	.	0.26709	N	0.971001	D	0.89917	1.0	D	0.75484	0.986	T	0.38045	-0.9679	8	0.66056	D	0.02	.	1.6208	0.02713	0.5055:0.0:0.1976:0.2969	.	175	O43345	ZN208_HUMAN	W	175	ENSP00000380315:C175W	ENSP00000380315:C175W	C	-	3	2	ZNF208	21949151	0.145000	0.22656	0.002000	0.10522	0.549000	0.35272	0.404000	0.20999	-0.099000	0.12263	0.248000	0.18094	TGT		0.328	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		8	41	0	0	0	0	8	41				
ZNF675	171392	broad.mit.edu	37	19	23836955	23836955	+	Silent	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:23836955T>C	ENST00000359788.4	-	4	948	c.780A>G	c.(778-780)gaA>gaG	p.E260E	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	260					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CTTTGCCACATTCTTCACATT	0.353																																						uc002nri.2		NA																	0				ovary(1)|kidney(1)	2						c.(778-780)GAA>GAG		zinc finger protein 675							65.0	69.0	68.0					19																	23836955		2203	4300	6503	SO:0001819	synonymous_variant	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23836955T>C		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.780A>G	19.37:g.23836955T>C							p.E260E	NM_138330	NP_612203	Q8TD23	ZN675_HUMAN			4	962	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	260			C2H2-type 5.		Q8N211	Silent	SNP	ENST00000359788.4	37	c.780A>G	CCDS32981.1																																																																																				0.353	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		10	31	0	0	0	0	10	31				
FCGBP	8857	broad.mit.edu	37	19	40376315	40376315	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:40376315C>G	ENST00000221347.6	-	25	11996	c.11989G>C	c.(11989-11991)Gag>Cag	p.E3997Q	FCGBP_ENST00000595713.1_5'Flank	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3997	Cys-rich.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTTCCTACCTCATAGTAGACA	0.542																																						uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(11989-11991)GAG>CAG		Fc fragment of IgG binding protein precursor							56.0	52.0	53.0					19																	40376315		2200	4299	6499	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40376315C>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.11989G>C	19.37:g.40376315C>G	ENSP00000221347:p.Glu3997Gln						p.E3997Q	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		25	11997	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		3997			Cys-rich.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.11989G>C	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	c	12.09	1.833702	0.32421	.	.	ENSG00000090920	ENST00000221347	T	0.04917	3.53	3.4	2.34	0.29019	von Willebrand factor, type C (1);	.	.	.	.	T	0.05502	0.0145	L	0.48218	1.51	0.20403	N	0.999908	P	0.37176	0.586	B	0.37015	0.239	T	0.31110	-0.9955	9	0.09590	T	0.72	.	5.7096	0.17927	0.0:0.6427:0.0:0.3573	.	3997	Q9Y6R7	FCGBP_HUMAN	Q	3997	ENSP00000221347:E3997Q	ENSP00000221347:E3997Q	E	-	1	0	FCGBP	45068155	0.963000	0.33076	0.896000	0.35187	0.113000	0.19764	1.569000	0.36428	0.525000	0.28522	0.306000	0.20318	GAG		0.542	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		6	28	0	0	0	0	6	28				
BCAM	4059	broad.mit.edu	37	19	45316587	45316587	+	Silent	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:45316587C>G	ENST00000270233.6	+	5	607	c.585C>G	c.(583-585)ccC>ccG	p.P195P	BCAM_ENST00000589651.1_Silent_p.P195P	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	195	Ig-like V-type 2.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TGGAGGTGCCCGTAGAGATGA	0.687																																						uc002ozu.2		NA																	0				skin(1)	1						c.(583-585)CCC>CCG		basal cell adhesion molecule isoform 1							36.0	37.0	37.0					19																	45316587		2203	4295	6498	SO:0001819	synonymous_variant	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45316587C>G	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.585C>G	19.37:g.45316587C>G						BCAM_uc002ozt.1_Silent_p.P195P	p.P195P	NM_005581	NP_005572	P50895	BCAM_HUMAN			5	629	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	195			Extracellular (Potential).|Ig-like V-type 2.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Silent	SNP	ENST00000270233.6	37	c.585C>G	CCDS12644.1																																																																																				0.687	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		18	41	0	0	0	0	18	41				
IZUMO1	284359	broad.mit.edu	37	19	49245052	49245052	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:49245052C>T	ENST00000332955.2	-	8	1295	c.748G>A	c.(748-750)Gtc>Atc	p.V250I	RASIP1_ENST00000222145.4_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	250	Ig-like C2-type.				cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TGACCTGTGACGTGAAAATTG	0.632																																						uc002pkj.2		NA																	0				ovary(1)	1						c.(748-750)GTC>ATC		izumo sperm-egg fusion 1 precursor							40.0	40.0	40.0					19																	49245052		2203	4300	6503	SO:0001583	missense	284359				fusion of sperm to egg plasma membrane	integral to membrane		g.chr19:49245052C>T	BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"""-"""	28539	protein-coding gene	gene with protein product	"""oocyte binding/fusion factor"""	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.748G>A	19.37:g.49245052C>T	ENSP00000327786:p.Val250Ile					RASIP1_uc002pki.2_5'Flank|IZUMO1_uc010eme.2_RNA|IZUMO1_uc010emf.2_RNA	p.V250I	NM_182575	NP_872381	Q8IYV9	IZUM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	8	1296	-		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)	250			Ig-like C2-type.|Extracellular (Potential).		Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	c.748G>A	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784089	0.70222	.	.	ENSG00000182264	ENST00000332955	D	0.85339	-1.97	5.26	5.26	0.73747	Immunoglobulin subtype (1);	0.000000	0.47455	D	0.000226	D	0.88477	0.6447	L	0.36672	1.1	0.37787	D	0.927213	D	0.89917	1.0	D	0.81914	0.995	D	0.90497	0.4471	10	0.87932	D	0	-37.8031	14.7529	0.69540	0.0:1.0:0.0:0.0	.	250	Q8IYV9	IZUM1_HUMAN	I	250	ENSP00000327786:V250I	ENSP00000327786:V250I	V	-	1	0	IZUMO1	53936864	0.967000	0.33354	0.940000	0.37924	0.084000	0.17831	3.549000	0.53681	2.642000	0.89623	0.561000	0.74099	GTC		0.632	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	NM_182575		9	27	0	0	0	0	9	27				
IL4I1	259307	broad.mit.edu	37	19	50399101	50399101	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:50399101C>T	ENST00000391826.2	-	3	365	c.223G>A	c.(223-225)Gcc>Acc	p.A75T	IL4I1_ENST00000595948.1_Missense_Mutation_p.A97T|IL4I1_ENST00000341114.3_Missense_Mutation_p.A97T	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	75						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	AGCACCTTGGCGGCCACCAGC	0.637																																						uc002pqt.1		NA																	0				lung(1)|ovary(1)|prostate(1)	3						c.(223-225)GCC>ACC		interleukin 4 induced 1 isoform 1 precursor							92.0	98.0	96.0					19																	50399101		2203	4300	6503	SO:0001583	missense	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50399101C>T	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.223G>A	19.37:g.50399101C>T	ENSP00000375702:p.Ala75Thr					IL4I1_uc002pqv.1_Missense_Mutation_p.A84T|IL4I1_uc010eno.1_Missense_Mutation_p.A83T|IL4I1_uc002pqw.1_Missense_Mutation_p.A83T|IL4I1_uc002pqu.1_Missense_Mutation_p.A97T	p.A75T	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	3	301	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	75					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Missense_Mutation	SNP	ENST00000391826.2	37	c.223G>A	CCDS12787.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444025	0.83993	.	.	ENSG00000104951	ENST00000341114;ENST00000391826	D;D	0.99594	-6.25;-6.25	5.39	4.34	0.51931	Amine oxidase (1);	0.045957	0.85682	N	0.000000	D	0.99278	0.9748	M	0.88906	2.99	0.42323	D	0.992261	D;D;D	0.61080	0.987;0.989;0.989	P;P;P	0.48795	0.454;0.59;0.59	D	0.98586	1.0652	10	0.87932	D	0	-60.0894	10.4863	0.44724	0.0:0.9084:0.0:0.0916	.	97;97;75	Q96RQ9-2;Q1WMJ3;Q96RQ9	.;.;OXLA_HUMAN	T	97;75	ENSP00000342557:A97T;ENSP00000375702:A75T	ENSP00000342557:A97T	A	-	1	0	IL4I1	55090913	0.995000	0.38212	0.855000	0.33649	0.596000	0.36781	3.362000	0.52314	1.269000	0.44280	0.542000	0.68232	GCC		0.637	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1			12	116	0	0	0	0	12	116				
ZNF616	90317	broad.mit.edu	37	19	52619847	52619847	+	Silent	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:52619847A>G	ENST00000600228.1	-	4	831	c.570T>C	c.(568-570)tgT>tgC	p.C190C	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGGCTTTGCCACATTCATTAC	0.373																																						uc002pym.2		NA																	0					0						c.(568-570)TGT>TGC		zinc finger protein 616							165.0	156.0	159.0					19																	52619847		2203	4300	6503	SO:0001819	synonymous_variant	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619847A>G	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.570T>C	19.37:g.52619847A>G						ZNF616_uc002pyn.2_RNA	p.C190C	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	853	-			190			C2H2-type 1.		B3KRV1|Q0P658|Q658V7	Silent	SNP	ENST00000600228.1	37	c.570T>C	CCDS33090.1																																																																																				0.373	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		41	83	0	0	0	0	41	83				
ADAM17	6868	broad.mit.edu	37	2	9666273	9666273	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:9666273G>A	ENST00000310823.3	-	6	902	c.720C>T	c.(718-720)ggC>ggT	p.G240G	ADAM17_ENST00000497134.1_Silent_p.G240G	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	240	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CTTCCCCTCTGCCCATGTATC	0.383																																						uc002qzu.2		NA																	0				lung(1)|kidney(1)	2						c.(718-720)GGC>GGT		a disintegrin and metalloprotease domain 17							238.0	219.0	226.0					2																	9666273		2203	4300	6503	SO:0001819	synonymous_variant	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9666273G>A	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.720C>T	2.37:g.9666273G>A						ADAM17_uc010ewy.2_Silent_p.G240G|ADAM17_uc010ewz.2_Intron|ADAM17_uc010exa.2_5'Flank	p.G240G	NM_003183	NP_003174	P78536	ADA17_HUMAN		Epithelial(75;0.225)	6	903	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		240			Peptidase M12B.|Extracellular (Potential).		O60226	Silent	SNP	ENST00000310823.3	37	c.720C>T	CCDS1665.1																																																																																				0.383	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			66	111	0	0	0	0	66	111				
GTF3C2	2976	broad.mit.edu	37	2	27566417	27566417	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:27566417T>A	ENST00000359541.2	-	2	434	c.5A>T	c.(4-6)gAt>gTt	p.D2V	GTF3C2_ENST00000264720.3_Missense_Mutation_p.D2V|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000588707.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	2					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGCAGGTATCCATCAGCAC	0.517																																						uc002rjv.1		NA																	0				ovary(1)|skin(1)	2						c.(4-6)GAT>GTT		general transcription factor IIIC, polypeptide							54.0	59.0	57.0					2																	27566417		2203	4300	6503	SO:0001583	missense	2976					transcription factor TFIIIC complex		g.chr2:27566417T>A	D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.5A>T	2.37:g.27566417T>A	ENSP00000352536:p.Asp2Val					GTF3C2_uc002rju.1_Missense_Mutation_p.D13V|GTF3C2_uc002rjw.1_Missense_Mutation_p.D2V|GTF3C2_uc010eyz.1_Missense_Mutation_p.D2V	p.D2V	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN			3	368	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2					D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	ENST00000359541.2	37	c.5A>T	CCDS1749.1	.	.	.	.	.	.	.	.	.	.	T	18.86	3.712617	0.68730	.	.	ENSG00000115207	ENST00000359541;ENST00000264720;ENST00000457748;ENST00000423998	T;T	0.81247	-1.47;-1.47	4.8	4.8	0.61643	.	0.170666	0.37715	N	0.001968	T	0.81706	0.4879	N	0.24115	0.695	0.54753	D	0.999988	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.996;0.998	D	0.83560	0.0106	10	0.87932	D	0	-8.1055	10.6566	0.45678	0.0:0.0:0.0:1.0	.	2;2;2	Q8WUA4-2;Q8WUA4;Q53QN0	.;TF3C2_HUMAN;.	V	2	ENSP00000352536:D2V;ENSP00000264720:D2V	ENSP00000264720:D2V	D	-	2	0	GTF3C2	27419921	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.381000	0.52455	2.017000	0.59298	0.460000	0.39030	GAT		0.517	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215028.2			39	70	0	0	0	0	39	70				
LTBP1	4052	broad.mit.edu	37	2	33588552	33588552	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:33588552A>C	ENST00000404816.2	+	29	4719	c.4366A>C	c.(4366-4368)Acg>Ccg	p.T1456P	LTBP1_ENST00000402934.1_Missense_Mutation_p.T1075P|LTBP1_ENST00000354476.3_Missense_Mutation_p.T1457P|LTBP1_ENST00000407925.1_Missense_Mutation_p.T1130P|LTBP1_ENST00000272273.5_Missense_Mutation_p.T354P|LTBP1_ENST00000404525.1_Missense_Mutation_p.T1077P|LTBP1_ENST00000418533.2_Missense_Mutation_p.T1088P|LTBP1_ENST00000390003.4_Missense_Mutation_p.T1131P			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1456	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TAAGCAAGGGACGTACTATGA	0.398																																						uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(4369-4371)ACG>CCG		latent transforming growth factor beta binding							171.0	159.0	163.0					2																	33588552		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33588552A>C		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4366A>C	2.37:g.33588552A>C	ENSP00000386043:p.Thr1456Pro					LTBP1_uc002rot.2_Missense_Mutation_p.T1131P|LTBP1_uc002rou.2_Missense_Mutation_p.T1130P|LTBP1_uc002rov.2_Missense_Mutation_p.T1077P|LTBP1_uc010ymz.1_Missense_Mutation_p.T1088P|LTBP1_uc010yna.1_Missense_Mutation_p.T1035P|LTBP1_uc010ynb.1_Missense_Mutation_p.T354P	p.T1457P	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			29	4369	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1456			EGF-like 15; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.4369A>C	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	A	15.27	2.785255	0.49997	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	D;D;D;D;D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76;-3.76;-3.76;-3.76;-2.94	5.34	5.34	0.76211	Epidermal growth factor-like (1);	.	.	.	.	D	0.97297	0.9116	M	0.70842	2.15	0.39713	D	0.971361	D;D;D;D;D;D;D	0.89917	0.989;0.999;1.0;0.997;0.999;1.0;0.999	P;D;D;D;D;D;D	0.91635	0.854;0.925;0.998;0.921;0.973;0.999;0.966	D	0.98763	1.0725	9	0.87932	D	0	.	15.3253	0.74157	1.0:0.0:0.0:0.0	.	354;1456;1088;1077;1130;1131;1457	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	P	1456;1457;1131;1088;1075;1077;1130;354	ENSP00000386043:T1456P;ENSP00000346467:T1457P;ENSP00000374653:T1131P;ENSP00000393057:T1088P;ENSP00000384373:T1075P;ENSP00000385359:T1077P;ENSP00000384091:T1130P;ENSP00000272273:T354P	ENSP00000272273:T354P	T	+	1	0	LTBP1	33442056	0.645000	0.27286	1.000000	0.80357	0.922000	0.55478	2.018000	0.40991	2.025000	0.59659	0.460000	0.39030	ACG		0.398	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		14	92	0	0	0	0	14	92				
PSME4	23198	broad.mit.edu	37	2	54155437	54155437	+	Silent	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:54155437T>C	ENST00000404125.1	-	11	1375	c.1320A>G	c.(1318-1320)acA>acG	p.T440T	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	440					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATGCAGGATATGTTCTACAGT	0.353																																						uc002rxp.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(1318-1320)ACA>ACG		proteasome (prosome, macropain) activator							63.0	62.0	62.0					2																	54155437		2203	4300	6503	SO:0001819	synonymous_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54155437T>C	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.1320A>G	2.37:g.54155437T>C						PSME4_uc010yop.1_Silent_p.T326T|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron	p.T440T	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		11	1376	-			440					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	c.1320A>G	CCDS33197.2																																																																																				0.353	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		4	24	0	0	0	0	4	24				
CNNM3	26505	broad.mit.edu	37	2	97490833	97490833	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:97490833G>A	ENST00000305510.3	+	2	1292	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	422	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						GGTGAACAACGAGGGTGAAGG	0.602																																						uc002swy.2		NA																	0				ovary(1)	1						c.(1264-1266)GAG>AAG		cyclin M3 isoform 1							85.0	65.0	72.0					2																	97490833		2203	4300	6503	SO:0001583	missense	26505				ion transport	integral to membrane|plasma membrane	protein binding	g.chr2:97490833G>A	AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1264G>A	2.37:g.97490833G>A	ENSP00000305449:p.Glu422Lys					CNNM3_uc002swz.2_Intron	p.E422K	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN			2	1288	+			422			CBS 2.		B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Missense_Mutation	SNP	ENST00000305510.3	37	c.1264G>A	CCDS2025.1	.	.	.	.	.	.	.	.	.	.	G	36	5.725426	0.96847	.	.	ENSG00000168763	ENST00000305510	T	0.76060	-0.99	5.56	5.56	0.83823	Cystathionine beta-synthase, core (1);	0.000000	0.85682	D	0.000000	T	0.79947	0.4534	L	0.58428	1.81	0.80722	D	1	D	0.55605	0.972	P	0.52159	0.691	T	0.80661	-0.1283	10	0.52906	T	0.07	-28.0107	18.3066	0.90184	0.0:0.0:1.0:0.0	.	422	Q8NE01	CNNM3_HUMAN	K	422	ENSP00000305449:E422K	ENSP00000305449:E422K	E	+	1	0	CNNM3	96854560	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.420000	0.97426	2.640000	0.89533	0.655000	0.94253	GAG		0.602	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2	NM_017623		6	34	0	0	0	0	6	34				
TNFAIP6	7130	broad.mit.edu	37	2	152226720	152226720	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:152226720A>C	ENST00000243347.3	+	4	656	c.581A>C	c.(580-582)gAa>gCa	p.E194A	MIR4773-1_ENST00000585225.1_RNA|RN7SL124P_ENST00000498656.2_RNA	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	194	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	GATTATGTTGAAATATATGAC	0.413																																						uc002txk.2		NA																	0					0						c.(580-582)GAA>GCA		tumor necrosis factor, alpha-induced protein 6							213.0	208.0	210.0					2																	152226720		2203	4300	6503	SO:0001583	missense	7130				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding	g.chr2:152226720A>C		CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.581A>C	2.37:g.152226720A>C	ENSP00000243347:p.Glu194Ala						p.E194A	NM_007115	NP_009046	P98066	TSG6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	4	657	+			194			CUB.		Q53TI7|Q8WWI9	Missense_Mutation	SNP	ENST00000243347.3	37	c.581A>C	CCDS2193.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.591038	0.86851	.	.	ENSG00000123610	ENST00000243347	T	0.22134	1.97	5.49	5.49	0.81192	CUB (5);	0.000000	0.85682	D	0.000000	T	0.42426	0.1202	L	0.56124	1.755	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.18713	-1.0328	10	0.48119	T	0.1	.	15.5672	0.76303	1.0:0.0:0.0:0.0	.	194	P98066	TSG6_HUMAN	A	194	ENSP00000243347:E194A	ENSP00000243347:E194A	E	+	2	0	TNFAIP6	151934966	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.962000	0.93254	2.071000	0.62044	0.454000	0.30748	GAA		0.413	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115		32	166	0	0	0	0	32	166				
PKP4	8502	broad.mit.edu	37	2	159488376	159488376	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:159488376G>T	ENST00000389759.3	+	8	1377	c.1265G>T	c.(1264-1266)aGc>aTc	p.S422I	PKP4_ENST00000389757.3_Missense_Mutation_p.S422I	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	422					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ACCTATTACAGCCCAGTGTAC	0.527										HNSCC(62;0.18)																												uc002tzv.2		NA																	0				ovary(5)|skin(2)	7						c.(1264-1266)AGC>ATC		plakophilin 4 isoform a							134.0	120.0	125.0					2																	159488376		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159488376G>T	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.1265G>T	2.37:g.159488376G>T	ENSP00000374409:p.Ser422Ile	HNSCC(62;0.18)				PKP4_uc002tzt.1_Missense_Mutation_p.S274I|PKP4_uc002tzu.2_Missense_Mutation_p.S422I|PKP4_uc002tzw.2_Missense_Mutation_p.S422I|PKP4_uc002tzx.2_Missense_Mutation_p.S80I|PKP4_uc002tzy.1_Missense_Mutation_p.S80I|PKP4_uc002tzz.1_Missense_Mutation_p.S420I|PKP4_uc002uaa.2_Missense_Mutation_p.S274I	p.S422I	NM_003628	NP_003619	Q99569	PKP4_HUMAN			8	1525	+			422			ARM 1.		Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.1265G>T	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	33	5.244805	0.95272	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.75050	-0.9;-0.9	5.97	5.97	0.96955	.	0.147637	0.64402	D	0.000016	T	0.81884	0.4917	L	0.54323	1.7	0.58432	D	0.999991	P;P;P;P;D	0.54207	0.941;0.948;0.935;0.948;0.965	P;P;P;P;P	0.55577	0.67;0.467;0.565;0.467;0.779	T	0.81724	-0.0802	10	0.62326	D	0.03	-12.2639	20.4387	0.99107	0.0:0.0:1.0:0.0	.	274;378;422;422;273	Q6LCG8;Q4W5T8;Q99569-2;Q99569;F8W7E2	.;.;.;PKP4_HUMAN;.	I	273;422;422	ENSP00000374407:S422I;ENSP00000374409:S422I	ENSP00000374407:S422I	S	+	2	0	PKP4	159196622	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.199000	0.95003	2.836000	0.97738	0.655000	0.94253	AGC		0.527	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			22	62	1	0	1.96e-10	2.23e-10	22	62				
LRP2	4036	broad.mit.edu	37	2	170060520	170060520	+	Missense_Mutation	SNP	A	A	C	rs78701402		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:170060520A>C	ENST00000263816.3	-	42	8262	c.7977T>G	c.(7975-7977)aaT>aaG	p.N2659K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2659	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGCAGCCCCCATTAAACTGTT	0.428																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(7975-7977)AAT>AAG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						108.0	110.0	109.0					2																	170060520		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170060520A>C		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7977T>G	2.37:g.170060520A>C	ENSP00000263816:p.Asn2659Lys						p.N2659K	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	42	8190	-			2659			EGF-like 10.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.7977T>G	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.742466	0.69418	.	.	ENSG00000081479	ENST00000263816	D	0.92595	-3.07	5.58	1.8	0.24995	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.95345	0.8489	M	0.84511	2.7	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.93691	0.7007	10	0.66056	D	0.02	.	9.4955	0.38986	0.7289:0.0:0.2711:0.0	.	2659	P98164	LRP2_HUMAN	K	2659	ENSP00000263816:N2659K	ENSP00000263816:N2659K	N	-	3	2	LRP2	169768766	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	1.331000	0.33793	0.059000	0.16252	-0.274000	0.10170	AAT		0.428	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		12	106	0	0	0	0	12	106				
SP3	6670	broad.mit.edu	37	2	174819640	174819640	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:174819640T>C	ENST00000310015.6	-	4	2130	c.1600A>G	c.(1600-1602)Ata>Gta	p.I534V	SP3_ENST00000418194.2_Missense_Mutation_p.I466V|SP3_ENST00000483084.1_5'Flank|SP3_ENST00000455789.2_Missense_Mutation_p.I481V	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	534	Repressor domain.				B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TGTAGCTGTATACCAGCAGAA	0.423																																						uc002uig.2		NA																EWSR1/SP3(3)	0				soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(1600-1602)ATA>GTA		Sp3 transcription factor isoform 1							91.0	85.0	87.0					2																	174819640		2203	4300	6503	SO:0001583	missense	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174819640T>C	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1600A>G	2.37:g.174819640T>C	ENSP00000310301:p.Ile534Val					SP3_uc002uie.2_Missense_Mutation_p.I466V|SP3_uc002uif.2_Missense_Mutation_p.I481V|SP3_uc010zel.1_Missense_Mutation_p.I531V	p.I534V	NM_003111	NP_003102	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		4	1764	-			534			Repressor domain.		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	c.1600A>G	CCDS2254.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.632350	0.46944	.	.	ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194	T;T;T	0.03951	3.77;3.76;3.75	5.74	5.74	0.90152	.	0.095718	0.64402	D	0.000003	T	0.04272	0.0118	N	0.25789	0.76	0.58432	D	0.999999	B;B;B	0.33022	0.184;0.013;0.394	B;B;B	0.31547	0.063;0.024;0.132	T	0.44590	-0.9318	10	0.07990	T	0.79	.	16.0326	0.80588	0.0:0.0:0.0:1.0	.	531;534;481	B7ZLN9;Q02447;Q02447-6	.;SP3_HUMAN;.	V	534;481;466	ENSP00000310301:I534V;ENSP00000388903:I481V;ENSP00000406140:I466V	ENSP00000310301:I534V	I	-	1	0	SP3	174527886	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.369000	0.73109	2.185000	0.69588	0.528000	0.53228	ATA		0.423	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		35	57	0	0	0	0	35	57				
OLA1	29789	broad.mit.edu	37	2	175006625	175006625	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:175006625C>T	ENST00000409546.1	-	5	1167	c.537G>A	c.(535-537)atG>atA	p.M179I	OLA1_ENST00000428402.2_Missense_Mutation_p.M159I|OLA1_ENST00000284719.3_Missense_Mutation_p.M159I|OLA1_ENST00000344357.5_Start_Codon_SNP_p.M1I					Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TGGGCCCAATCATTTCCTCAT	0.343																																						uc002uih.2		NA																	0				ovary(1)|breast(1)	2						c.(475-477)ATG>ATA		Obg-like ATPase 1 isoform 1							98.0	97.0	97.0					2																	175006625		2203	4300	6503	SO:0001583	missense	29789				ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding	g.chr2:175006625C>T		CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"""GTP-binding protein 9 (putative)"""	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.537G>A	2.37:g.175006625C>T	ENSP00000386350:p.Met179Ile					OLA1_uc002uii.2_Missense_Mutation_p.M1I|OLA1_uc010fqq.2_Missense_Mutation_p.M159I|OLA1_uc002uij.2_Missense_Mutation_p.M1I|OLA1_uc002uik.2_Missense_Mutation_p.M129I|OLA1_uc010fqr.2_Missense_Mutation_p.M159I	p.M159I	NM_013341	NP_037473	Q9NTK5	OLA1_HUMAN			5	663	-			159						Missense_Mutation	SNP	ENST00000409546.1	37	c.477G>A		.	.	.	.	.	.	.	.	.	.	C	16.37	3.104096	0.56291	.	.	ENSG00000138430	ENST00000284719;ENST00000344357;ENST00000428402;ENST00000409546;ENST00000429575	T;T;T	0.39056	2.43;1.1;2.43	5.68	5.68	0.88126	TGS-like domain (1);	0.034174	0.85682	D	0.000000	T	0.27098	0.0664	N	0.05608	-0.01	0.80722	D	1	B;B;B;B	0.22683	0.003;0.01;0.073;0.01	B;B;B;B	0.17979	0.002;0.004;0.02;0.004	T	0.07366	-1.0776	10	0.21540	T	0.41	.	19.7908	0.96456	0.0:1.0:0.0:0.0	.	159;159;1;159	Q9NTK5-3;D7EHM2;Q9NTK5-2;Q9NTK5	.;.;.;OLA1_HUMAN	I	159;1;159;179;1	ENSP00000284719:M159I;ENSP00000410385:M159I;ENSP00000386350:M179I	ENSP00000284719:M159I	M	-	3	0	OLA1	174714871	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.599000	0.54045	2.682000	0.91365	0.591000	0.81541	ATG		0.343	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333877.1	NM_013341		16	87	0	0	0	0	16	87				
TTC30A	92104	broad.mit.edu	37	2	178482633	178482633	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:178482633T>A	ENST00000355689.5	-	1	1061	c.797A>T	c.(796-798)aAc>aTc	p.N266I	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	266					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			TACCTCATAGTTTCTCAGTTG	0.507																																						uc002ulo.2		NA																	0					0						c.(796-798)AAC>ATC		tetratricopeptide repeat domain 30A							122.0	126.0	125.0					2																	178482633		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178482633T>A	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.797A>T	2.37:g.178482633T>A	ENSP00000347915:p.Asn266Ile						p.N266I	NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	1062	-			266					A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.797A>T	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.425153	0.62733	.	.	ENSG00000197557	ENST00000355689	T	0.39229	1.09	5.78	5.78	0.91487	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.72882	0.3516	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.80493	-0.1358	10	0.87932	D	0	.	16.1702	0.81808	0.0:0.0:0.0:1.0	.	266	Q86WT1	TT30A_HUMAN	I	266	ENSP00000347915:N266I	ENSP00000347915:N266I	N	-	2	0	TTC30A	178190879	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	7.765000	0.85310	2.224000	0.72417	0.449000	0.29647	AAC		0.507	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		40	80	0	0	0	0	40	80				
TTN	7273	broad.mit.edu	37	2	179449963	179449963	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:179449963C>T	ENST00000591111.1	-	259	59809	c.59585G>A	c.(59584-59586)gGa>gAa	p.G19862E	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G12630E|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G12563E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G18935E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G21503E|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G12438E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19862	Ig-like 110.				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)			TTCATCTTCTCCTTTTTTCCA	0.423																																						uc010zfg.1		NA																	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.(56803-56805)GGA>GAA		titin isoform N2-A							318.0	289.0	298.0					2																	179449963		1887	4130	6017	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179449963C>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.59585G>A	2.37:g.179449963C>T	ENSP00000465570:p.Gly19862Glu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G12630E|TTN_uc010zfi.1_Missense_Mutation_p.G12563E|TTN_uc010zfj.1_Missense_Mutation_p.G12438E	p.G18935E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		258	57028	-			19862					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.56804G>A		.	.	.	.	.	.	.	.	.	.	C	18.13	3.556411	0.65425	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54951	0.1890	L	0.33293	1	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.71414	0.973;0.973;0.973;0.973	T	0.54105	-0.8343	9	0.87932	D	0	.	17.0531	0.86525	0.0:0.8734:0.1266:0.0	.	12438;12563;12630;19862	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	18935;12438;12630;12563;12436	ENSP00000343764:G18935E;ENSP00000434586:G12438E;ENSP00000340554:G12630E;ENSP00000352154:G12563E	ENSP00000340554:G12630E	G	-	2	0	TTN	179158209	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.863000	0.62983	2.941000	0.99782	0.655000	0.94253	GGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		32	189	0	0	0	0	32	189				
ORC2	4999	broad.mit.edu	37	2	201798698	201798698	+	Splice_Site	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:201798698C>T	ENST00000234296.2	-	10	958		c.e10-1			NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2						DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						CTAAGTCACTCTGAAAGTGAA	0.348																																						uc002uwr.2		NA																	0					0						c.e10-1		origin recognition complex, subunit 2							67.0	69.0	68.0					2																	201798698		2203	4299	6502	SO:0001630	splice_region_variant	4999				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr2:201798698C>T		CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.709-1G>A	2.37:g.201798698C>T						ORC2L_uc010zhj.1_Splice_Site_p.S237_splice	p.S237_splice	NM_006190	NP_006181	Q13416	ORC2_HUMAN			10	966	-								Q13204|Q53TX5	Splice_Site	SNP	ENST00000234296.2	37	c.709_splice	CCDS2334.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836001	0.32421	.	.	ENSG00000115942	ENST00000234296	.	.	.	5.51	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4183	0.60982	0.0:0.9238:0.0:0.0762	.	.	.	.	.	-1	.	.	.	-	.	.	ORC2	201506943	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	3.962000	0.56766	2.581000	0.87130	0.650000	0.86243	.		0.348	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256191.2	NM_006190	Intron	14	73	0	0	0	0	14	73				
TMC2	117532	broad.mit.edu	37	20	2621930	2621930	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr20:2621930A>G	ENST00000358864.1	+	20	2669	c.2654A>G	c.(2653-2655)cAc>cGc	p.H885R		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	885					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GATTCTGGCCACGCCCCATCT	0.617																																						uc002wgf.1		NA																	0				ovary(3)	3						c.(2653-2655)CAC>CGC		transmembrane cochlear-expressed protein 2							70.0	64.0	66.0					20																	2621930		2203	4300	6503	SO:0001583	missense	117532					integral to membrane		g.chr20:2621930A>G	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2654A>G	20.37:g.2621930A>G	ENSP00000351732:p.His885Arg					TMC2_uc002wgg.1_Missense_Mutation_p.H869R	p.H885R	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			20	2669	+			885			Cytoplasmic (Potential).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Missense_Mutation	SNP	ENST00000358864.1	37	c.2654A>G	CCDS13029.2	.	.	.	.	.	.	.	.	.	.	A	0.023	-1.405441	0.01155	.	.	ENSG00000149488	ENST00000358864	T	0.62364	0.03	4.7	1.12	0.20585	.	2.027030	0.02540	N	0.094567	T	0.45013	0.1321	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12116	-1.0560	10	0.16896	T	0.51	0.3997	3.4528	0.07505	0.643:0.0:0.1899:0.1671	.	885	Q8TDI7	TMC2_HUMAN	R	885	ENSP00000351732:H885R	ENSP00000351732:H885R	H	+	2	0	TMC2	2569930	0.034000	0.19679	0.001000	0.08648	0.001000	0.01503	1.205000	0.32308	0.052000	0.16007	-0.468000	0.05107	CAC		0.617	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			3	47	0	0	0	0	3	47				
ESF1	51575	broad.mit.edu	37	20	13698017	13698017	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr20:13698017C>G	ENST00000202816.1	-	13	2367	c.2260G>C	c.(2260-2262)Gag>Cag	p.E754Q		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	754	Lys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						ATGGTTACCTCAAAGTCATCC	0.378																																						uc002woj.2		NA																	0				ovary(1)	1						c.(2260-2262)GAG>CAG		ABT1-associated protein							239.0	209.0	219.0					20																	13698017		2203	4300	6503	SO:0001583	missense	51575				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		g.chr20:13698017C>G		CCDS13117.1	20p12.1	2007-02-12	2006-11-13	2006-11-13	ENSG00000089048	ENSG00000089048			15898	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 6"""	C20orf6			Standard	NM_016649		Approved	bA526K24.1	uc002wok.2	Q9H501	OTTHUMG00000031906	ENST00000202816.1:c.2260G>C	20.37:g.13698017C>G	ENSP00000202816:p.Glu754Gln						p.E754Q	NM_016649	NP_057733	Q9H501	ESF1_HUMAN			13	2368	-			754			Lys-rich.|Potential.		Q86X92|Q9H9Q5|Q9HA35|Q9NX93|Q9P1S6	Missense_Mutation	SNP	ENST00000202816.1	37	c.2260G>C	CCDS13117.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212693	0.58452	.	.	ENSG00000089048	ENST00000202816	T	0.23552	1.9	5.87	5.87	0.94306	.	0.063724	0.64402	D	0.000005	T	0.18593	0.0446	N	0.25890	0.77	0.33985	D	0.648374	B	0.26708	0.157	B	0.20767	0.031	T	0.15780	-1.0425	10	0.23891	T	0.37	-8.5872	14.7366	0.69419	0.0:0.7523:0.2477:0.0	.	754	Q9H501	ESF1_HUMAN	Q	754	ENSP00000202816:E754Q	ENSP00000202816:E754Q	E	-	1	0	ESF1	13646017	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.759000	0.38420	2.941000	0.99782	0.655000	0.94253	GAG		0.378	ESF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078049.1	NM_016649		17	830	0	0	0	0	17	830				
ENTPD6	955	broad.mit.edu	37	20	25199204	25199204	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr20:25199204G>A	ENST00000376652.4	+	10	1060	c.897G>A	c.(895-897)ctG>ctA	p.L299L	ENTPD6_ENST00000354989.5_Silent_p.L282L|ENTPD6_ENST00000433259.2_Silent_p.L299L|ENTPD6_ENST00000360031.2_Silent_p.L298L			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	299					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GGCTCGGGCTGATGTCGGCAC	0.657																																						uc002wuj.2		NA																	0					0						c.(895-897)CTG>CTA		ectonucleoside triphosphate diphosphohydrolase 6							45.0	35.0	39.0					20																	25199204		2202	4300	6502	SO:0001819	synonymous_variant	955					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25199204G>A	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.897G>A	20.37:g.25199204G>A						ENTPD6_uc010zsy.1_Silent_p.L299L|ENTPD6_uc010gdj.1_Silent_p.L271L|ENTPD6_uc010zsz.1_Silent_p.L81L|ENTPD6_uc002wum.2_Silent_p.L282L|ENTPD6_uc010zta.1_Silent_p.L299L|ENTPD6_uc002wun.2_Silent_p.L299L|ENTPD6_uc002wuk.2_Silent_p.L298L|ENTPD6_uc002wul.2_Silent_p.L298L|ENTPD6_uc010ztb.1_Silent_p.L271L|ENTPD6_uc010ztc.1_Silent_p.L271L|ENTPD6_uc002wuo.2_Silent_p.L51L|ENTPD6_uc010ztd.1_Silent_p.L81L	p.L299L	NM_001247	NP_001238	O75354	ENTP6_HUMAN			10	1077	+			299			Lumenal (Potential).		A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Silent	SNP	ENST00000376652.4	37	c.897G>A	CCDS13170.1	.	.	.	.	.	.	.	.	.	.	G	8.558	0.877125	0.17395	.	.	ENSG00000197586	ENST00000376666	.	.	.	5.28	3.27	0.37495	.	.	.	.	.	T	0.53690	0.1812	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45991	-0.9223	4	.	.	.	-13.4414	5.0237	0.14374	0.0794:0.1484:0.6181:0.154	.	.	.	.	N	123	.	.	D	+	1	0	ENTPD6	25147204	1.000000	0.71417	0.987000	0.45799	0.776000	0.43924	1.868000	0.39509	0.577000	0.29470	0.462000	0.41574	GAT		0.657	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			6	9	0	0	0	0	6	9				
CDH4	1002	broad.mit.edu	37	20	60511842	60511842	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr20:60511842C>T	ENST00000360469.5	+	16	2680	c.2592C>T	c.(2590-2592)tcC>tcT	p.S864S	CDH4_ENST00000543233.1_Silent_p.S790S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	864					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCTATGACTCCCTGCTGGTCT	0.637																																						uc002ybn.1		NA																	0				lung(3)|ovary(2)|skin(1)	6						c.(2590-2592)TCC>TCT		cadherin 4, type 1 preproprotein							47.0	46.0	46.0					20																	60511842		2202	4300	6502	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60511842C>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2592C>T	20.37:g.60511842C>T						CDH4_uc002ybp.1_Silent_p.S790S|uc002ybr.1_5'Flank	p.S864S	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		16	2606	+			864			Cytoplasmic (Potential).		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.2592C>T	CCDS13488.1																																																																																				0.637	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		22	22	0	0	0	0	22	22				
LTN1	26046	broad.mit.edu	37	21	30357237	30357237	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr21:30357237C>T	ENST00000361371.5	-	4	431	c.352G>A	c.(352-354)Gac>Aac	p.D118N	LTN1_ENST00000389194.2_Missense_Mutation_p.D164N|LTN1_ENST00000389195.2_Missense_Mutation_p.D164N			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	118					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ACGCGACGGTCATGATCCTAT	0.348																																						uc002ymr.2		NA																	0					0						c.(490-492)GAC>AAC		zinc finger protein 294							60.0	59.0	59.0					21																	30357237		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30357237C>T	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.352G>A	21.37:g.30357237C>T	ENSP00000354977:p.Asp118Asn					RNF160_uc010gll.1_RNA	p.D164N	NM_015565	NP_056380	O94822	LTN1_HUMAN			4	503	-			118					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.490G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.229111	0.95173	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.68331	3.48;3.48;-0.32	5.27	5.27	0.74061	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77850	0.4192	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72456	-0.4288	10	0.25751	T	0.34	.	19.0718	0.93140	0.0:1.0:0.0:0.0	.	118	O94822	LTN1_HUMAN	N	164;118;120;164	ENSP00000373846:D164N;ENSP00000354977:D118N;ENSP00000373847:D164N	ENSP00000354977:D118N	D	-	1	0	LTN1	29279108	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.320000	0.79064	2.746000	0.94184	0.460000	0.39030	GAC		0.348	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		10	17	0	0	0	0	10	17				
DONSON	29980	broad.mit.edu	37	21	34950680	34950680	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr21:34950680G>C	ENST00000303071.5	-	10	1700	c.1634C>G	c.(1633-1635)cCg>cGg	p.P545R	DONSON_ENST00000432378.1_Missense_Mutation_p.P474R|DONSON_ENST00000303113.6_Missense_Mutation_p.P531R|DONSON_ENST00000453626.1_Missense_Mutation_p.R497G	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	545					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						CCCAAGTAACGGTATTTGACT	0.403																																						uc002ysk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1633-1635)CCG>CGG		downstream neighbor of SON							159.0	136.0	144.0					21																	34950680		2203	4300	6503	SO:0001583	missense	29980				multicellular organismal development	nucleus		g.chr21:34950680G>C	AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.1634C>G	21.37:g.34950680G>C	ENSP00000307143:p.Pro545Arg					DONSON_uc002ysi.1_Missense_Mutation_p.P305R|DONSON_uc002ysj.2_Missense_Mutation_p.P178R|DONSON_uc002ysl.2_Missense_Mutation_p.P178R|DONSON_uc010gme.2_Missense_Mutation_p.P518R|DONSON_uc002ysm.2_Missense_Mutation_p.P545R	p.P545R	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN			10	1701	-			545					Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	ENST00000303071.5	37	c.1634C>G	CCDS13632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.30|16.30	3.084702|3.084702	0.55861|0.55861	.|.	.|.	ENSG00000159147|ENSG00000159147	ENST00000303113;ENST00000303071;ENST00000432378|ENST00000453626;ENST00000437395	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.230714|.	0.45867|.	D|.	0.000324|.	T|T	0.61677|0.61677	0.2366|0.2366	M|M	0.76838|0.76838	2.35|2.35	0.20196|0.20196	N|N	0.999926|0.999926	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.67103|.	0.949;0.949|.	T|T	0.56932|0.56932	-0.7897|-0.7897	9|5	0.44086|.	T|.	0.13|.	-31.85|-31.85	13.0956|13.0956	0.59190|0.59190	0.0:0.0:0.8395:0.1605|0.0:0.0:0.8395:0.1605	.|.	531;545|.	F8W8A5;Q9NYP3|.	.;DONS_HUMAN|.	R|G	531;545;474|497;516	.|.	ENSP00000307143:P545R|.	P|R	-|-	2|1	0|0	DONSON|DONSON	33872550|33872550	0.997000|0.997000	0.39634|0.39634	0.953000|0.953000	0.39169|0.39169	0.534000|0.534000	0.34807|0.34807	5.591000|5.591000	0.67536|0.67536	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	CCG|CGT		0.403	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613		9	71	0	0	0	0	9	71				
EWSR1	2130	broad.mit.edu	37	22	29695245	29695245	+	Silent	SNP	C	C	T	rs138837921		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr22:29695245C>T	ENST00000397938.2	+	15	1921	c.1602C>T	c.(1600-1602)ttC>ttT	p.F534F	EWSR1_ENST00000332050.6_Silent_p.F461F|EWSR1_ENST00000414183.2_Silent_p.F539F|EWSR1_ENST00000406548.1_Silent_p.F533F|EWSR1_ENST00000331029.7_Silent_p.F496F|EWSR1_ENST00000332035.6_Silent_p.F478F	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	534					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACCAGAACTTCGCCTGGAGAA	0.512			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								C|||	1	0.000199681	0.0	0.0014	5008	,	,		20737	0.0		0.0	False		,,,				2504	0.0					uc003aet.2		NA		Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1		Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma	EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	0				bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						c.(1600-1602)TTC>TTT		Ewing sarcoma breakpoint region 1 isoform 2		C	,,,	0,4406		0,0,2203	168.0	159.0	162.0		1599,1434,1602,1617	-1.8	1.0	22	dbSNP_134	162	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EWSR1	NM_001163285.1,NM_001163286.1,NM_005243.3,NM_013986.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	533/656,478/601,534/657,539/662	29695245	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29695245C>T		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1602C>T	22.37:g.29695245C>T						EWSR1_uc003aev.2_Silent_p.F539F|EWSR1_uc003aew.2_Silent_p.F478F|EWSR1_uc003aex.2_Silent_p.F533F|EWSR1_uc003aey.2_Silent_p.F329F|EWSR1_uc003aez.2_Silent_p.F195F	p.F534F	NM_005243	NP_005234	Q01844	EWS_HUMAN			15	1930	+			534			RanBP2-type.		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Silent	SNP	ENST00000397938.2	37	c.1602C>T	CCDS13851.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	10.02	1.234877	0.22626	0.0	1.16E-4	ENSG00000182944	ENST00000360091	.	.	.	5.36	-1.84	0.07809	.	.	.	.	.	T	0.56187	0.1968	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54153	-0.8336	4	.	.	.	.	10.9833	0.47508	0.0:0.3261:0.0:0.6739	.	.	.	.	C	203	.	.	R	+	1	0	EWSR1	28025245	0.059000	0.20769	0.997000	0.53966	0.994000	0.84299	-0.683000	0.05179	-0.103000	0.12175	0.462000	0.41574	CGC		0.512	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		27	102	0	0	0	0	27	102				
TBC1D10A	83874	broad.mit.edu	37	22	30722697	30722697	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr22:30722697G>A	ENST00000215790.7	-	1	338	c.174C>T	c.(172-174)ttC>ttT	p.F58F	TBC1D10A_ENST00000403477.3_Silent_p.F58F|TBC1D10A_ENST00000490449.1_5'UTR	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	58					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CGATGAAGCCGAACTTGTCGA	0.726																																						uc011akt.1		NA																	0				ovary(1)	1						c.(172-174)TTC>TTT		TBC1 domain family, member 10A							22.0	27.0	25.0					22																	30722697		2199	4283	6482	SO:0001819	synonymous_variant	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30722697G>A	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.174C>T	22.37:g.30722697G>A						TBC1D10A_uc010gvu.2_Silent_p.F58F|TBC1D10A_uc003ahk.3_Silent_p.F58F	p.F58F	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN			1	198	-			58					B3KXT8|O76053|Q20WK7|Q543A2	Silent	SNP	ENST00000215790.7	37	c.174C>T	CCDS13874.1																																																																																				0.726	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		10	24	0	0	0	0	10	24				
CACNA1D	776	broad.mit.edu	37	3	53834348	53834348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:53834348G>T	ENST00000350061.5	+	41	5507	c.4996G>T	c.(4996-4998)Gag>Tag	p.E1666*	CACNA1D_ENST00000288139.4_Nonsense_Mutation_p.E1686*|RP11-884K10.6_ENST00000607740.1_RNA|CACNA1D_ENST00000544977.1_Nonsense_Mutation_p.E45*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.E1651*	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1666					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCAAGATGACGAGCCTGAGGA	0.463																																						uc003dgv.3		NA																	0				ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(4996-4998)GAG>TAG		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						192.0	178.0	182.0					3																	53834348		2203	4300	6503	SO:0001587	stop_gained	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53834348G>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.4996G>T	3.37:g.53834348G>T	ENSP00000288133:p.Glu1666*					CACNA1D_uc003dgu.3_Nonsense_Mutation_p.E1686*|CACNA1D_uc003dgy.3_Nonsense_Mutation_p.E1651*|CACNA1D_uc003dgw.3_Nonsense_Mutation_p.E1333*|CACNA1D_uc003dgx.1_Nonsense_Mutation_p.E842*|CACNA1D_uc011bes.1_RNA	p.E1666*	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	41	5159	+			1666			Cytoplasmic (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Nonsense_Mutation	SNP	ENST00000350061.5	37	c.4996G>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	g	46	12.803121	0.99697	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	.	.	.	4.62	4.62	0.57501	.	0.654152	0.12951	N	0.425827	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.518	0.87779	0.0:0.0:1.0:0.0	.	.	.	.	X	1666;1686;1651;1359;45	.	ENSP00000288139:E1686X	E	+	1	0	CACNA1D	53809388	1.000000	0.71417	0.858000	0.33744	0.987000	0.75469	9.432000	0.97498	2.121000	0.65114	0.450000	0.29827	GAG		0.463	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		20	45	1	0	1.34e-09	1.51e-09	20	45				
PDE12	201626	broad.mit.edu	37	3	57542169	57542169	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:57542169G>A	ENST00000311180.8	+	1	166	c.63G>A	c.(61-63)ctG>ctA	p.L21L	PDE12_ENST00000487257.1_Silent_p.L21L	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	21					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TGGAGAAGCTGAGCCGGGCTG	0.692																																					Colon(125;308 1634 19198 50622 50717)	uc003diw.3		NA																	0					0						c.(61-63)CTG>CTA		phosphodiesterase 12							17.0	21.0	20.0					3																	57542169		2197	4291	6488	SO:0001819	synonymous_variant	201626						hydrolase activity	g.chr3:57542169G>A	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.63G>A	3.37:g.57542169G>A						PDE12_uc003div.2_Silent_p.L21L	p.L21L	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	1	189	+			21					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Silent	SNP	ENST00000311180.8	37	c.63G>A	CCDS33772.1																																																																																				0.692	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		5	9	0	0	0	0	5	9				
NFKBIZ	64332	broad.mit.edu	37	3	101573934	101573934	+	Missense_Mutation	SNP	A	A	G	rs187961189		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:101573934A>G	ENST00000326172.5	+	7	1587	c.1472A>G	c.(1471-1473)aAt>aGt	p.N491S	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.N369S|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.N391S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	491	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GTGGCTGCCAATCAGCATCTC	0.458													A|||	1	0.000199681	0.0	0.0	5008	,	,		19965	0.0		0.001	False		,,,				2504	0.0					uc003dvp.2		NA																	0				ovary(2)	2						c.(1471-1473)AAT>AGT		nuclear factor of kappa light polypeptide gene		A	SER/ASN,SER/ASN	0,4406		0,0,2203	75.0	76.0	75.0		1172,1472	5.6	1.0	3		75	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	NFKBIZ	NM_001005474.2,NM_031419.3	46,46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging	391/619,491/719	101573934	1,13005	2203	4300	6503	SO:0001583	missense	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101573934A>G	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1472A>G	3.37:g.101573934A>G	ENSP00000325663:p.Asn491Ser					NFKBIZ_uc003dvo.2_Missense_Mutation_p.N391S|NFKBIZ_uc010hpo.2_Missense_Mutation_p.N391S|NFKBIZ_uc003dvq.2_Missense_Mutation_p.N369S	p.N491S	NM_031419	NP_113607	Q9BYH8	IKBZ_HUMAN			7	1587	+			491			Interaction with NFKB1/p50 (By similarity).|ANK 2.		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	c.1472A>G	CCDS2946.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	A	22.8	4.334287	0.81801	0.0	1.16E-4	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.58	5.58	0.84498	Ankyrin repeat-containing domain (4);	0.052931	0.64402	D	0.000001	T	0.67979	0.2951	L	0.49513	1.565	0.50813	D	0.999892	D;D	0.89917	0.992;1.0	P;D	0.77557	0.895;0.99	T	0.72360	-0.4317	10	0.48119	T	0.1	-4.9478	16.0334	0.80603	1.0:0.0:0.0:0.0	.	369;491	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	S	391;391;369;491	ENSP00000419800:N391S;ENSP00000377618:N391S;ENSP00000325593:N369S;ENSP00000325663:N491S	ENSP00000325593:N369S	N	+	2	0	NFKBIZ	103056624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.890000	0.92477	2.243000	0.73865	0.533000	0.62120	AAT		0.458	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		21	102	0	0	0	0	21	102				
CD96	10225	broad.mit.edu	37	3	111296359	111296359	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:111296359G>C	ENST00000283285.5	+	4	685	c.554G>C	c.(553-555)aGc>aCc	p.S185T	CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	185	Ig-like V-type 2.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GAAAACAGCAGCACGGATTCT	0.423									Opitz Trigonocephaly syndrome																													uc003dxw.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(553-555)AGC>ACC		CD96 antigen isoform 1 precursor							193.0	201.0	198.0					3																	111296359		2203	4300	6503	SO:0001583	missense	10225	Opitz_Trigonocephaly_syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111296359G>C	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.554G>C	3.37:g.111296359G>C	ENSP00000283285:p.Ser185Thr					CD96_uc003dxv.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	p.S185T	NM_198196	NP_937839	P40200	TACT_HUMAN			4	724	+			185			Extracellular (Potential).|Ig-like V-type 2.		Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.554G>C	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	G	0.039	-1.292670	0.01375	.	.	ENSG00000153283	ENST00000283285	T	0.64085	-0.08	3.48	-0.598	0.11649	Immunoglobulin subtype (1);	1.713590	0.03461	N	0.212189	T	0.35008	0.0917	N	0.08118	0	0.09310	N	1	B	0.29432	0.244	B	0.21917	0.037	T	0.11179	-1.0598	10	0.16420	T	0.52	6.8481	2.8149	0.05453	0.2278:0.0:0.3863:0.3859	.	185	P40200	TACT_HUMAN	T	185	ENSP00000283285:S185T	ENSP00000283285:S185T	S	+	2	0	CD96	112779049	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.088000	0.11198	-0.122000	0.11766	0.655000	0.94253	AGC		0.423	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			62	331	0	0	0	0	62	331				
ATP2C1	27032	broad.mit.edu	37	3	130715584	130715584	+	Silent	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:130715584C>G	ENST00000510168.1	+	24	2737	c.2187C>G	c.(2185-2187)ctC>ctG	p.L729L	ATP2C1_ENST00000359644.3_Silent_p.L729L|ATP2C1_ENST00000505330.1_Silent_p.L713L|ATP2C1_ENST00000504381.1_Silent_p.L674L|ATP2C1_ENST00000533801.2_Silent_p.L724L|ATP2C1_ENST00000428331.2_Silent_p.L729L|ATP2C1_ENST00000328560.8_Silent_p.L729L|ATP2C1_ENST00000508532.1_Silent_p.L729L|ATP2C1_ENST00000393221.4_Silent_p.L763L|ATP2C1_ENST00000507488.2_Silent_p.L713L|ATP2C1_ENST00000513801.1_Silent_p.L713L|ATP2C1_ENST00000422190.2_Silent_p.L729L|ATP2C1_ENST00000504948.1_Silent_p.L713L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	729					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTAATCCTCTCAATGCCATGC	0.363									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	uc003enl.2		NA																	0				skin(1)	1						c.(2185-2187)CTC>CTG		calcium-transporting ATPase 2C1 isoform 1a	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						140.0	138.0	139.0					3																	130715584		2203	4300	6503	SO:0001819	synonymous_variant	27032	Hailey-Hailey_disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130715584C>G	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2187C>G	3.37:g.130715584C>G						ATP2C1_uc011blg.1_Silent_p.L763L|ATP2C1_uc011blh.1_Silent_p.L724L|ATP2C1_uc011bli.1_Silent_p.L763L|ATP2C1_uc003enk.2_Silent_p.L713L|ATP2C1_uc003enm.2_Silent_p.L729L|ATP2C1_uc003enn.2_Silent_p.L713L|ATP2C1_uc003eno.2_Silent_p.L729L|ATP2C1_uc003enp.2_Silent_p.L729L|ATP2C1_uc003enq.2_Silent_p.L729L|ATP2C1_uc003enr.2_Silent_p.L729L|ATP2C1_uc003ens.2_Silent_p.L729L|ATP2C1_uc003ent.2_Silent_p.L729L|ATP2C1_uc003enu.2_Silent_p.L407L	p.L729L	NM_014382	NP_055197	P98194	AT2C1_HUMAN			24	2409	+			729			Lumenal (By similarity).		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Silent	SNP	ENST00000510168.1	37	c.2187C>G	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	C	8.816	0.936422	0.18206	.	.	ENSG00000017260	ENST00000504612;ENST00000508660	.	.	.	5.73	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2177	0.82239	0.0:0.8671:0.1329:0.0	.	.	.	.	X	683;247	.	.	S	+	2	0	ATP2C1	132198274	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.730000	0.38125	2.699000	0.92147	0.655000	0.94253	TCA		0.363	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		35	85	0	0	0	0	35	85				
NPHP3	27031	broad.mit.edu	37	3	132435736	132435736	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:132435736C>T	ENST00000337331.5	-	4	774	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	NPHP3_ENST00000476742.1_5'Flank|NPHP3_ENST00000326682.8_Missense_Mutation_p.E230K	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	230					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTCCAATATTCACATTGGGTT	0.443																																						uc003epe.1		NA																	0				ovary(1)	1						c.(688-690)GAA>AAA		nephrocystin 3							57.0	55.0	56.0					3																	132435736		2203	4300	6503	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132435736C>T	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.688G>A	3.37:g.132435736C>T	ENSP00000338766:p.Glu230Lys					NPHP3_uc003epf.1_5'UTR	p.E230K	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			4	765	-			230					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.688G>A	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840971	0.51057	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	D;D	0.92048	-2.96;-2.85	6.13	6.13	0.99165	.	0.286895	0.38164	N	0.001788	D	0.89252	0.6662	L	0.50333	1.59	0.80722	D	1	P	0.36282	0.546	B	0.26770	0.073	D	0.88909	0.3358	10	0.66056	D	0.02	-14.6821	19.0207	0.92915	0.0:1.0:0.0:0.0	.	230	Q7Z494	NPHP3_HUMAN	K	230	ENSP00000319909:E230K;ENSP00000338766:E230K	ENSP00000319909:E230K	E	-	1	0	NPHP3	133918426	1.000000	0.71417	0.998000	0.56505	0.041000	0.13682	7.487000	0.81328	2.932000	0.99384	0.644000	0.83932	GAA		0.443	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		15	74	0	0	0	0	15	74				
KY	339855	broad.mit.edu	37	3	134323141	134323141	+	Silent	SNP	G	G	A	rs376295684		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:134323141G>A	ENST00000423778.2	-	11	1327	c.1266C>T	c.(1264-1266)tcC>tcT	p.S422S	KY_ENST00000503669.1_3'UTR|KY_ENST00000508956.1_Silent_p.S401S	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	422					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TGTAGATGTCGGAGTTGCCCT	0.562																																						uc010hty.2		NA																	0				ovary(2)	2						c.(1264-1266)TCC>TCT		kyphoscoliosis peptidase		G		0,4250		0,0,2125	79.0	77.0	78.0		1266	-11.0	0.1	3		78	2,8482		0,2,4240	no	coding-synonymous	KY	NM_178554.4		0,2,6365	AA,AG,GG		0.0236,0.0,0.0157		422/662	134323141	2,12732	2125	4242	6367	SO:0001819	synonymous_variant	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134323141G>A	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1266C>T	3.37:g.134323141G>A						KY_uc011blw.1_3'UTR|KY_uc011blx.1_Silent_p.S401S	p.S422S	NM_178554	NP_848649	Q8NBH2	KY_HUMAN			11	1328	-			422					B7Z1S4|Q6ZT15	Silent	SNP	ENST00000423778.2	37	c.1266C>T	CCDS46920.1																																																																																				0.562	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		8	60	0	0	0	0	8	60				
AP2M1	1173	broad.mit.edu	37	3	183894784	183894784	+	Start_Codon_SNP	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr3:183894784G>C	ENST00000292807.5	+	2	151	c.3G>C	c.(1-3)atG>atC	p.M1I	EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000439647.1_Start_Codon_SNP_p.M1I|AP2M1_ENST00000382456.3_Start_Codon_SNP_p.M1I|AP2M1_ENST00000411763.2_Start_Codon_SNP_p.M1I	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	1					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGCCGCCATGATTGGAGGCT	0.582																																						uc011bqx.1		NA																	0					0						c.(1-3)ATG>ATC		adaptor-related protein complex 2, mu 1 subunit							46.0	51.0	49.0					3																	183894784		1982	4146	6128	SO:0001582	initiator_codon_variant	1173				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity	g.chr3:183894784G>C	U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.3G>C	3.37:g.183894784G>C	ENSP00000292807:p.Met1Ile					AP2M1_uc003fmw.2_Missense_Mutation_p.M1I|AP2M1_uc003fmx.2_Missense_Mutation_p.M1I|AP2M1_uc003fmy.2_Missense_Mutation_p.M1I	p.M1I	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	160	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		1					A6NE12|D3DNT1|P20172|P53679	Missense_Mutation	SNP	ENST00000292807.5	37	c.3G>C	CCDS43177.1	.	.	.	.	.	.	.	.	.	.	G	36	5.650578	0.96714	.	.	ENSG00000161203	ENST00000382456;ENST00000427072;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000448139;ENST00000455925;ENST00000439647;ENST00000432591;ENST00000431779	T;T;T;T	0.76186	-1.0;-0.47;-0.98;-1.0	5.69	5.69	0.88448	Longin-like (1);	0.000000	0.85682	D	0.000000	D	0.87708	0.6245	.	.	.	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.998;0.996	D	0.88525	0.3099	9	0.87932	D	0	.	19.8275	0.96624	0.0:0.0:1.0:0.0	.	1;1;1	Q96CW1;E9PFW3;Q96CW1-2	AP2M1_HUMAN;.;.	I	1	ENSP00000371894:M1I;ENSP00000403362:M1I;ENSP00000292807:M1I;ENSP00000409081:M1I	ENSP00000292807:M1I	M	+	3	0	AP2M1	185377478	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.369000	0.97156	2.684000	0.91462	0.650000	0.86243	ATG		0.582	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	NM_004068	Missense_Mutation	6	38	0	0	0	0	6	38				
DGKQ	1609	broad.mit.edu	37	4	959312	959312	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr4:959312C>T	ENST00000273814.3	-	14	1658	c.1585G>A	c.(1585-1587)Gtg>Atg	p.V529M	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	529					blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACGGACACCACGGTGGCTGCA	0.652																																					Esophageal Squamous(17;537 645 4447 26373)	uc003gbw.2		NA																	0				kidney(1)	1						c.(1585-1587)GTG>ATG		diacylglycerol kinase, theta							58.0	49.0	52.0					4																	959312		2199	4299	6498	SO:0001583	missense	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:959312C>T	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.1585G>A	4.37:g.959312C>T	ENSP00000273814:p.Val529Met					DGKQ_uc010ibn.2_Intron	p.V529M	NM_001347	NP_001338	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		14	1659	-			529					Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.1585G>A	CCDS3342.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.442345	0.25987	.	.	ENSG00000145214	ENST00000273814	T	0.80909	-1.43	4.42	1.45	0.22620	.	0.441538	0.21930	N	0.067038	T	0.60728	0.2291	N	0.12182	0.205	0.23669	N	0.997155	B	0.19583	0.037	B	0.11329	0.006	T	0.52480	-0.8570	10	0.49607	T	0.09	.	6.9559	0.24570	0.0:0.3656:0.5124:0.122	.	529	P52824	DGKQ_HUMAN	M	529	ENSP00000273814:V529M	ENSP00000273814:V529M	V	-	1	0	DGKQ	949312	0.000000	0.05858	0.949000	0.38748	0.893000	0.52053	0.116000	0.15561	0.433000	0.26313	-0.261000	0.10672	GTG		0.652	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			3	25	0	0	0	0	3	25				
CRIPAK	285464	broad.mit.edu	37	4	1389375	1389375	+	Missense_Mutation	SNP	T	T	C	rs35263928		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr4:1389375T>C	ENST00000324803.4	+	1	4036	c.1076T>C	c.(1075-1077)gTg>gCg	p.V359A		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	359					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CGTGCCCATGTGGAGTGCCCG	0.652																																						uc003gdf.2		NA																	0					0						c.(1075-1077)GTG>GCG		cysteine-rich PAK1 inhibitor							167.0	173.0	171.0					4																	1389375		2203	4299	6502	SO:0001583	missense	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389375T>C	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1076T>C	4.37:g.1389375T>C	ENSP00000323978:p.Val359Ala						p.V359A	NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	4036	+			359					Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.1076T>C	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	8.975	0.973866	0.18736	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.24538	1.85	0.757	-0.868	0.10652	.	.	.	.	.	T	0.11110	0.0271	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.24764	-1.0151	9	0.52906	T	0.07	.	4.2907	0.10878	0.0:0.526:0.0:0.474	rs35263928	359	Q8N1N5	CRPAK_HUMAN	A	359;301	ENSP00000323978:V359A	ENSP00000323978:V359A	V	+	2	0	CRIPAK	1379375	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.182000	0.03082	-0.267000	0.09325	-1.193000	0.01689	GTG		0.652	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		4	202	0	0	0	0	4	202				
SLC2A9	56606	broad.mit.edu	37	4	9828063	9828063	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr4:9828063G>A	ENST00000264784.3	-	12	1634	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	SLC2A9_ENST00000309065.3_Silent_p.I498I|SLC2A9_ENST00000506583.1_Silent_p.I498I	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	527					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)	p.I498I(1)|p.I527I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CAGCTGAGTCGATTTTCTCTT	0.423																																						uc003gmc.2		NA																	2	Substitution - coding silent(2)		prostate(2)	ovary(3)	3						c.(1579-1581)ATC>ATT		solute carrier family 2, member 9 protein							188.0	168.0	175.0					4																	9828063		2203	4300	6503	SO:0001819	synonymous_variant	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9828063G>A	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.1581C>T	4.37:g.9828063G>A						SLC2A9_uc003gmd.2_Silent_p.I498I	p.I527I	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN			12	1642	-			527			Cytoplasmic (Potential).		Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	ENST00000264784.3	37	c.1581C>T	CCDS3407.1																																																																																				0.423	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			40	77	0	0	0	0	40	77				
NKX3-2	579	broad.mit.edu	37	4	13544126	13544126	+	Missense_Mutation	SNP	C	C	T	rs61795263	byFrequency	TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr4:13544126C>T	ENST00000382438.5	-	2	1128	c.493G>A	c.(493-495)Gac>Aac	p.D165N		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	165					determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CCAACACCGTCGTCCTCGGTC	0.721																																						uc003gmx.2		NA																	0					0						c.(493-495)GAC>AAC		NK3 homeobox 2							16.0	19.0	18.0					4																	13544126		1746	3385	5131	SO:0001583	missense	579				negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:13544126C>T	AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"""Homeoboxes / ANTP class : NKL subclass"""	951	protein-coding gene	gene with protein product		602183	"""bagpipe homeobox homolog 1 (Drosophila)"""	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.493G>A	4.37:g.13544126C>T	ENSP00000371875:p.Asp165Asn						p.D165N	NM_001189	NP_001180	P78367	NKX32_HUMAN			2	569	-			165					Q2M2I7	Missense_Mutation	SNP	ENST00000382438.5	37	c.493G>A	CCDS3410.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818805	0.71028	.	.	ENSG00000109705	ENST00000382438	D	0.91740	-2.9	5.31	5.31	0.75309	.	0.379641	0.26923	N	0.021819	D	0.85362	0.5679	N	0.19112	0.55	0.09310	N	0.999994	B	0.16166	0.016	B	0.09377	0.004	T	0.70088	-0.4968	10	0.21540	T	0.41	.	15.698	0.77515	0.0:1.0:0.0:0.0	.	165	P78367	NKX32_HUMAN	N	165	ENSP00000371875:D165N	ENSP00000371875:D165N	D	-	1	0	NKX3-2	13153224	0.026000	0.19158	0.957000	0.39632	0.879000	0.50718	3.045000	0.49838	2.485000	0.83878	0.561000	0.74099	GAC		0.721	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3			4	20	0	0	0	0	4	20				
PF4	5196	broad.mit.edu	37	4	74846999	74846999	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr4:74846999C>T	ENST00000296029.3	-	3	398	c.228G>A	c.(226-228)ctG>ctA	p.L76L		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	76					blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|leukocyte chemotaxis (GO:0030595)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cytolysis (GO:0045918)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of megakaryocyte differentiation (GO:0045653)|negative regulation of MHC class II biosynthetic process (GO:0045347)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	TTCCATTCTTCAGCGTGGCTC	0.488																																						uc003hhi.2		NA																	0					0						c.(226-228)CTG>CTA		platelet factor 4 (chemokine (C-X-C motif)	Drotrecogin alfa(DB00055)						82.0	85.0	84.0					4																	74846999		2203	4300	6503	SO:0001819	synonymous_variant	5196				cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding	g.chr4:74846999C>T	M25897	CCDS3562.1	4q12-q21	2012-10-02	2008-08-29		ENSG00000163737	ENSG00000163737			8861	protein-coding gene	gene with protein product	"""chemokine (C-X-C motif) ligand 4"""	173460	"""platelet factor 4"""			3622011	Standard	NM_002619		Approved	SCYB4, CXCL4	uc003hhi.3	P02776	OTTHUMG00000130009	ENST00000296029.3:c.228G>A	4.37:g.74846999C>T							p.L76L	NM_002619	NP_002610	P02776	PLF4_HUMAN	all cancers(17;0.0034)|Lung(101;0.196)		3	273	-	Breast(15;0.00136)		76					Q53X61|Q9UC64|Q9UC65	Silent	SNP	ENST00000296029.3	37	c.228G>A	CCDS3562.1																																																																																				0.488	PF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252282.1			9	87	0	0	0	0	9	87				
KLHL8	57563	broad.mit.edu	37	4	88106900	88106900	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr4:88106900G>A	ENST00000273963.5	-	3	609	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S	KLHL8_ENST00000425278.2_Intron|KLHL8_ENST00000512111.1_Missense_Mutation_p.P90S|KLHL8_ENST00000498875.2_Intron|KLHL8_ENST00000545252.1_Intron	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	90	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CTAAAGTAGGGAATAACACAA	0.373																																						uc011cdb.1		NA																	0					0						c.(268-270)CCC>TCC		kelch-like 8							29.0	29.0	29.0					4																	88106900		2203	4297	6500	SO:0001583	missense	57563							g.chr4:88106900G>A	AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.268C>T	4.37:g.88106900G>A	ENSP00000273963:p.Pro90Ser					KLHL8_uc003hql.1_Missense_Mutation_p.P90S|KLHL8_uc003hqm.1_Intron|KLHL8_uc003hqn.1_Intron|KLHL8_uc010ikj.1_Intron	p.P90S	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	3	653	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	90			BTB.		Q53XA3|Q6N018	Missense_Mutation	SNP	ENST00000273963.5	37	c.268C>T	CCDS3617.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795615	0.70452	.	.	ENSG00000145332	ENST00000273963;ENST00000512111	T;T	0.71934	-0.61;-0.61	5.89	5.89	0.94794	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.78509	0.4294	L	0.55481	1.735	0.80722	D	1	P	0.51791	0.948	P	0.54499	0.754	T	0.76586	-0.2905	10	0.45353	T	0.12	.	20.2572	0.98426	0.0:0.0:1.0:0.0	.	90	Q9P2G9	KLHL8_HUMAN	S	90	ENSP00000273963:P90S;ENSP00000424131:P90S	ENSP00000273963:P90S	P	-	1	0	KLHL8	88325924	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.178000	0.65037	2.793000	0.96121	0.650000	0.86243	CCC		0.373	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			6	11	0	0	0	0	6	11				
FAT1	2195	broad.mit.edu	37	4	187538164	187538164	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr4:187538164C>A	ENST00000441802.2	-	11	9279	c.9070G>T	c.(9070-9072)Gaa>Taa	p.E3024*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3024	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTACCTTTTCACAAACTGGA	0.388										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(9070-9072)GAA>TAA		FAT tumor suppressor 1 precursor							199.0	175.0	182.0					4																	187538164		1928	4122	6050	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187538164C>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9070G>T	4.37:g.187538164C>A	ENSP00000406229:p.Glu3024*	HNSCC(5;0.00058)					p.E3024*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			11	9258	-			3024			Extracellular (Potential).|Cadherin 28.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.9070G>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	51	18.066352	0.99898	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.33	4.33	0.51752	.	0.052373	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	17.3816	0.87406	0.0:1.0:0.0:0.0	.	.	.	.	X	3024;3026	.	ENSP00000260147:E3026X	E	-	1	0	FAT1	187775158	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.826000	0.69293	2.399000	0.81585	0.563000	0.77884	GAA		0.388	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		13	22	1	0	7.93e-07	8.71e-07	13	22				
NUDT12	83594	broad.mit.edu	37	5	102894586	102894586	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:102894586C>G	ENST00000230792.2	-	3	886	c.790G>C	c.(790-792)Gaa>Caa	p.E264Q	NUDT12_ENST00000515407.1_5'Flank|NUDT12_ENST00000507423.1_Missense_Mutation_p.E246Q	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	264					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TTACCAGCTTCTTTTTCTTTC	0.373																																						uc003koi.2		NA																	0					0						c.(790-792)GAA>CAA		nudix-type motif 12							38.0	36.0	37.0					5																	102894586		2202	4298	6500	SO:0001583	missense	83594					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity	g.chr5:102894586C>G	AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.790G>C	5.37:g.102894586C>G	ENSP00000230792:p.Glu264Gln					NUDT12_uc011cvb.1_Missense_Mutation_p.E246Q	p.E264Q	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)	3	883	-		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)	264					B3KUW2|Q8TAL7	Missense_Mutation	SNP	ENST00000230792.2	37	c.790G>C	CCDS4096.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918204	0.73098	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.32023	1.47;1.47	5.55	5.55	0.83447	NUDIX hydrolase domain (1);NADH pyrophosphatase-like, N-terminal (1);NUDIX hydrolase domain-like (1);	0.149014	0.64402	D	0.000008	T	0.43700	0.1259	M	0.71581	2.175	0.58432	D	0.999993	P;P	0.47762	0.9;0.624	P;B	0.45794	0.493;0.395	T	0.40346	-0.9568	10	0.52906	T	0.07	-13.0353	19.8623	0.96787	0.0:1.0:0.0:0.0	.	246;264	E7EM93;Q9BQG2	.;NUD12_HUMAN	Q	264;246	ENSP00000230792:E264Q;ENSP00000424521:E246Q	ENSP00000230792:E264Q	E	-	1	0	NUDT12	102922485	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.794000	0.75135	2.769000	0.95229	0.650000	0.86243	GAA		0.373	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250650.1	NM_031438		3	7	0	0	0	0	3	7				
APC	324	broad.mit.edu	37	5	112176368	112176368	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:112176368G>A	ENST00000457016.1	+	16	5457	c.5077G>A	c.(5077-5079)Gaa>Aaa	p.E1693K	APC_ENST00000508376.2_Missense_Mutation_p.E1693K|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.E1693K			P25054	APC_HUMAN	adenomatous polyposis coli	1693	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|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 apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CATTCCTACAGAAGGCAGAAG	0.438		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		2	Unknown(1)|Deletion - Frameshift(1)	p.K1192fs*3(1)|p.?(1)	soft_tissue(1)|skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515	GRCh37	CM942021	APC	M		c.(5077-5079)GAA>AAA		adenomatous polyposis coli							58.0	59.0	59.0					5																	112176368		2202	4300	6502	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112176368G>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5077G>A	5.37:g.112176368G>A	ENSP00000413133:p.Glu1693Lys	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.E1675K|APC_uc003kpz.3_Missense_Mutation_p.E1693K|APC_uc003kpy.3_Missense_Mutation_p.E1693K|APC_uc010jbz.2_Missense_Mutation_p.E1410K|APC_uc010jca.2_Missense_Mutation_p.E993K	p.E1693K	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	5457	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1693			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.5077G>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810667	0.70797	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90900	-2.75;-2.75;-2.75	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.90463	0.7013	L	0.32530	0.975	0.58432	D	0.999998	D;D	0.57257	0.979;0.979	P;P	0.51777	0.679;0.679	D	0.88214	0.2892	9	.	.	.	-25.1448	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1695;1693	Q4LE70;P25054	.;APC_HUMAN	K	1693	ENSP00000413133:E1693K;ENSP00000257430:E1693K;ENSP00000427089:E1693K	.	E	+	1	0	APC	112204267	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.979000	0.76154	2.937000	0.99478	0.650000	0.86243	GAA		0.438	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		4	17	0	0	0	0	4	17				
APC	324	broad.mit.edu	37	5	112177885	112177885	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:112177885G>C	ENST00000457016.1	+	16	6974	c.6594G>C	c.(6592-6594)ttG>ttC	p.L2198F	APC_ENST00000508376.2_Missense_Mutation_p.L2198F|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.L2198F			P25054	APC_HUMAN	adenomatous polyposis coli	2198	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|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 apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATAAAAGTTTGATTACTGGAA	0.358		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		1	Unknown(1)	p.?(1)	skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(6592-6594)TTG>TTC		adenomatous polyposis coli							53.0	59.0	57.0					5																	112177885		2169	4295	6464	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112177885G>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6594G>C	5.37:g.112177885G>C	ENSP00000413133:p.Leu2198Phe	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.L2180F|APC_uc003kpz.3_Missense_Mutation_p.L2198F|APC_uc003kpy.3_Missense_Mutation_p.L2198F|APC_uc010jbz.2_Missense_Mutation_p.L1915F|APC_uc010jca.2_Missense_Mutation_p.L1498F	p.L2198F	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	6974	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	2198			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.6594G>C	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.484763	0.26598	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90504	-2.68;-2.68;-2.68	6.02	0.625	0.17665	.	0.063724	0.64402	D	0.000004	D	0.84570	0.5501	L	0.34521	1.04	0.46396	D	0.99902	P;P	0.50066	0.931;0.883	P;P	0.44732	0.459;0.459	T	0.78391	-0.2222	9	.	.	.	-7.1661	10.7376	0.46135	0.5254:0.0:0.4746:0.0	.	2200;2198	Q4LE70;P25054	.;APC_HUMAN	F	2198	ENSP00000413133:L2198F;ENSP00000257430:L2198F;ENSP00000427089:L2198F	.	L	+	3	2	APC	112205784	0.999000	0.42202	0.989000	0.46669	0.996000	0.88848	0.588000	0.23924	-0.183000	0.10585	0.650000	0.86243	TTG		0.358	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		13	36	0	0	0	0	13	36				
APC	324	broad.mit.edu	37	5	112178407	112178407	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:112178407G>T	ENST00000457016.1	+	16	7496	c.7116G>T	c.(7114-7116)caG>caT	p.Q2372H	APC_ENST00000508376.2_Missense_Mutation_p.Q2372H|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.Q2372H			P25054	APC_HUMAN	adenomatous polyposis coli	2372	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|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 apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAGGTAGACAGATGAGCCAAC	0.403		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		1	Unknown(1)	p.?(1)	skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(7114-7116)CAG>CAT		adenomatous polyposis coli							83.0	76.0	79.0					5																	112178407		2202	4299	6501	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112178407G>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.7116G>T	5.37:g.112178407G>T	ENSP00000413133:p.Gln2372His	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.Q2354H|APC_uc003kpz.3_Missense_Mutation_p.Q2372H|APC_uc003kpy.3_Missense_Mutation_p.Q2372H|APC_uc010jbz.2_Missense_Mutation_p.Q2089H|APC_uc010jca.2_Missense_Mutation_p.Q1672H	p.Q2372H	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	7496	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	2372			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.7116G>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943881	0.34283	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.83335	-1.71;-1.71;-1.71	5.9	4.06	0.47325	Adenomatous polyposis coli protein basic domain (1);	0.000000	0.85682	D	0.000000	D	0.86686	0.5992	L	0.51422	1.61	0.43761	D	0.996275	D;D	0.71674	0.998;0.998	D;D	0.83275	0.971;0.996	D	0.84412	0.0566	9	.	.	.	-8.4621	9.402	0.38437	0.2393:0.0:0.7607:0.0	.	2374;2372	Q4LE70;P25054	.;APC_HUMAN	H	2372	ENSP00000413133:Q2372H;ENSP00000257430:Q2372H;ENSP00000427089:Q2372H	.	Q	+	3	2	APC	112206306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.473000	0.35387	0.794000	0.33899	0.650000	0.86243	CAG		0.403	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		14	34	1	0	1.58e-08	1.77e-08	14	34				
APC	324	broad.mit.edu	37	5	112178579	112178579	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:112178579G>C	ENST00000457016.1	+	16	7668	c.7288G>C	c.(7288-7290)Gat>Cat	p.D2430H	APC_ENST00000508376.2_Missense_Mutation_p.D2430H|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.D2430H			P25054	APC_HUMAN	adenomatous polyposis coli	2430	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|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 apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGTGAATCTGATAGATCAGA	0.373		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		1	Unknown(1)	p.?(1)	skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(7288-7290)GAT>CAT		adenomatous polyposis coli							72.0	73.0	73.0					5																	112178579		2202	4300	6502	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112178579G>C	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.7288G>C	5.37:g.112178579G>C	ENSP00000413133:p.Asp2430His	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.D2412H|APC_uc003kpz.3_Missense_Mutation_p.D2430H|APC_uc003kpy.3_Missense_Mutation_p.D2430H|APC_uc010jbz.2_Missense_Mutation_p.D2147H|APC_uc010jca.2_Missense_Mutation_p.D1730H	p.D2430H	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	7668	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	2430			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.7288G>C	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224019	0.58668	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90955	-2.76;-2.76;-2.76	6.06	6.06	0.98353	Adenomatous polyposis coli protein basic domain (1);	0.092350	0.64402	D	0.000001	D	0.94188	0.8135	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.92460	0.5977	9	.	.	.	-23.256	20.6208	0.99490	0.0:0.0:1.0:0.0	.	2432;2430	Q4LE70;P25054	.;APC_HUMAN	H	2430	ENSP00000413133:D2430H;ENSP00000257430:D2430H;ENSP00000427089:D2430H	.	D	+	1	0	APC	112206478	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.050000	0.93843	2.882000	0.98803	0.655000	0.94253	GAT		0.373	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		17	34	0	0	0	0	17	34				
PCDHB10	56126	broad.mit.edu	37	5	140572793	140572793	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:140572793C>G	ENST00000239446.4	+	1	852	c.668C>G	c.(667-669)tCt>tGt	p.S223C		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	223	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCATCCAGGTCTGGGACCTCT	0.552																																						uc003lix.2		NA																	0				ovary(1)|skin(1)	2						c.(667-669)TCT>TGT		protocadherin beta 10 precursor							80.0	86.0	84.0					5																	140572793		2203	4300	6503	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572793C>G	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.668C>G	5.37:g.140572793C>G	ENSP00000239446:p.Ser223Cys						p.S223C	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	842	+			223			Cadherin 2.|Extracellular (Potential).		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.668C>G	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.719730	0.48728	.	.	ENSG00000120324	ENST00000239446	T	0.01871	4.59	3.41	3.41	0.39046	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.21509	0.0518	H	0.97635	4.045	0.40675	D	0.982259	D	0.89917	1.0	D	0.80764	0.994	T	0.49331	-0.8951	9	0.87932	D	0	.	15.0394	0.71777	0.0:1.0:0.0:0.0	.	223	Q9UN67	PCDBA_HUMAN	C	223	ENSP00000239446:S223C	ENSP00000239446:S223C	S	+	2	0	PCDHB10	140552977	0.064000	0.20934	0.993000	0.49108	0.300000	0.27592	3.166000	0.50785	1.930000	0.55929	0.556000	0.70494	TCT		0.552	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		28	70	0	0	0	0	28	70				
GRIA1	2890	broad.mit.edu	37	5	153085627	153085627	+	Splice_Site	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:153085627G>A	ENST00000285900.5	+	11	2166	c.1823G>A	c.(1822-1824)aGg>aAg	p.R608K	GRIA1_ENST00000518783.1_Splice_Site_p.R618K|GRIA1_ENST00000340592.5_Splice_Site_p.R608K|GRIA1_ENST00000518142.1_Splice_Site_p.R528K|GRIA1_ENST00000448073.4_Splice_Site_p.R618K|GRIA1_ENST00000521843.2_Splice_Site_p.R539K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	608					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	ATTTCTCCCAGGTCAGTCAGC	0.403																																						uc003lva.3		NA																	0				ovary(4)|skin(2)	6						c.(1822-1824)AGG>AAG		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						97.0	92.0	94.0					5																	153085627		2203	4300	6503	SO:0001630	splice_region_variant	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153085627G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1823+1G>A	5.37:g.153085627G>A						GRIA1_uc003luy.3_Missense_Mutation_p.R608K|GRIA1_uc003luz.3_Missense_Mutation_p.R513K|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.R528K|GRIA1_uc011dcx.1_Missense_Mutation_p.R539K|GRIA1_uc011dcy.1_Missense_Mutation_p.R618K|GRIA1_uc011dcz.1_Missense_Mutation_p.R618K|GRIA1_uc010jia.1_Missense_Mutation_p.R588K	p.R608K	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		11	2188	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	608			Cytoplasmic (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1823G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770956	0.90108	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.06	5.06	0.68205	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.61350	0.2340	L	0.46741	1.465	0.80722	D	1	D;D;P;D;D;D	0.65815	0.99;0.99;0.88;0.99;0.987;0.995	D;D;P;D;P;D	0.64506	0.926;0.926;0.735;0.926;0.879;0.919	T	0.54063	-0.8349	10	0.06891	T	0.86	.	17.7763	0.88510	0.0:0.0:1.0:0.0	.	618;618;528;618;608;608	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	K	608;608;528;562;608;539;539;618;618	ENSP00000285900:R608K;ENSP00000427920:R528K;ENSP00000339343:R608K;ENSP00000427864:R539K;ENSP00000442108:R539K;ENSP00000428994:R618K;ENSP00000415569:R618K	ENSP00000285900:R608K	R	+	2	0	GRIA1	153065820	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.640000	0.98453	2.497000	0.84241	0.655000	0.94253	AGG		0.403	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		Missense_Mutation	31	22	0	0	0	0	31	22				
WWC1	23286	broad.mit.edu	37	5	167887709	167887709	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:167887709C>T	ENST00000265293.4	+	20	3380	c.2878C>T	c.(2878-2880)Cga>Tga	p.R960*	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Nonsense_Mutation_p.R960*	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	960	Interaction with PRKCZ.|Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		ACCTTTTGTTCGAAACTCCCT	0.507																																						uc003lzu.2		NA																	0				ovary(2)|skin(2)|breast(1)	5						c.(2878-2880)CGA>TGA		WW and C2 domain containing 1 isoform 3							104.0	100.0	101.0					5																	167887709		2203	4300	6503	SO:0001587	stop_gained	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167887709C>T	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2878C>T	5.37:g.167887709C>T	ENSP00000265293:p.Arg960*					WWC1_uc003lzv.2_Nonsense_Mutation_p.R960*|WWC1_uc011den.1_Nonsense_Mutation_p.R960*|WWC1_uc003lzw.2_Nonsense_Mutation_p.R759*|WWC1_uc010jjf.1_Nonsense_Mutation_p.R232*	p.R960*	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	20	2971	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	960			Interaction with PRKCZ.|Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Nonsense_Mutation	SNP	ENST00000265293.4	37	c.2878C>T	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.046282|8.046282	0.98627|0.98627	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038|ENST00000393895;ENST00000524228	.|.	.|.	.|.	5.83|5.83	3.94|3.94	0.45596|0.45596	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	.|T	.|0.62672	.|0.2447	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70421	.|-0.4876	.|3	0.02654|.	T|.	1|.	.|.	13.6159|13.6159	0.62108|0.62108	0.4002:0.5998:0.0:0.0|0.4002:0.5998:0.0:0.0	.|.	.|.	.|.	.|.	X|L	960;960;286|921;736	.|.	ENSP00000265293:R960X|.	R|S	+|+	1|2	2|0	WWC1|WWC1	167820287|167820287	0.997000|0.997000	0.39634|0.39634	0.997000|0.997000	0.53966|0.53966	0.974000|0.974000	0.67602|0.67602	2.020000|2.020000	0.41010|0.41010	1.442000|1.442000	0.47568|0.47568	-0.188000|-0.188000	0.12872|0.12872	CGA|TCG		0.507	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		13	11	0	0	0	0	13	11				
DOCK2	1794	broad.mit.edu	37	5	169144446	169144446	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr5:169144446A>G	ENST00000256935.8	+	21	2170	c.2090A>G	c.(2089-2091)gAg>gGg	p.E697G	DOCK2_ENST00000520908.1_Missense_Mutation_p.E189G|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	697					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCGTTCTGGAGGCTTACATC	0.463																																						uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(2089-2091)GAG>GGG		dedicator of cytokinesis 2							238.0	202.0	214.0					5																	169144446		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169144446A>G	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2090A>G	5.37:g.169144446A>G	ENSP00000256935:p.Glu697Gly					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.E189G	p.E697G	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		21	2170	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	697					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.2090A>G	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.694536	0.88830	.	.	ENSG00000134516	ENST00000256935;ENST00000520908	T;T	0.22134	1.97;1.97	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.80764	0.986;0.994	T	0.41270	-0.9518	10	0.87932	D	0	.	15.5744	0.76365	1.0:0.0:0.0:0.0	.	189;697	E7ERW7;Q92608	.;DOCK2_HUMAN	G	697;189	ENSP00000256935:E697G;ENSP00000429283:E189G	ENSP00000256935:E697G	E	+	2	0	DOCK2	169077024	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	9.192000	0.94947	2.086000	0.62901	0.533000	0.62120	GAG		0.463	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		7	137	0	0	0	0	7	137				
RIPK1	8737	broad.mit.edu	37	6	3105891	3105891	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:3105891G>C	ENST00000259808.4	+	9	1480	c.1182G>C	c.(1180-1182)caG>caC	p.Q394H	RIPK1_ENST00000380409.2_Missense_Mutation_p.Q394H|RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.Q348H			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	394	Interaction with SQSTM1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TGGACAGGCAGACGAAACAGC	0.532																																						uc010jni.2		NA																	0				large_intestine(3)|lung(1)|skin(1)	5						c.(1180-1182)CAG>CAC		receptor (TNFRSF)-interacting serine-threonine							66.0	71.0	69.0					6																	3105891		2203	4300	6503	SO:0001583	missense	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3105891G>C	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.1182G>C	6.37:g.3105891G>C	ENSP00000259808:p.Gln394His					RIPK1_uc003muv.3_Missense_Mutation_p.Q231H|RIPK1_uc003muw.3_Missense_Mutation_p.Q329H|RIPK1_uc011dhs.1_Missense_Mutation_p.Q348H|RIPK1_uc003mux.2_Missense_Mutation_p.Q394H	p.Q394H	NM_003804	NP_003795	Q13546	RIPK1_HUMAN			9	1414	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	394			Interaction with SQSTM1.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	ENST00000259808.4	37	c.1182G>C	CCDS4482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.92|11.92	1.781985|1.781985	0.31502|0.31502	.|.	.|.	ENSG00000137275|ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409|ENST00000453483	T;T;T|.	0.78246|.	-1.16;-0.66;-1.16|.	5.6|5.6	0.528|0.528	0.17089|0.17089	.|.	1.032320|.	0.07598|.	N|.	0.923222|.	T|T	0.20007|0.20007	0.0481|0.0481	L|L	0.55481|0.55481	1.735|1.735	0.09310|0.09310	N|N	1|1	P;P|.	0.51240|.	0.911;0.943|.	P;P|.	0.47941|.	0.562;0.45|.	T|T	0.32161|0.32161	-0.9917|-0.9917	10|6	0.42905|0.51188	T|T	0.14|0.08	-4.5579|-4.5579	2.5751|2.5751	0.04804|0.04804	0.1579:0.2659:0.4396:0.1366|0.1579:0.2659:0.4396:0.1366	.|.	348;394|.	Q13546-2;Q13546|.	.;RIPK1_HUMAN|.	H|T	394;348;394|25	ENSP00000259808:Q394H;ENSP00000442294:Q348H;ENSP00000369773:Q394H|.	ENSP00000259808:Q394H|ENSP00000415981:R25T	Q|R	+|+	3|2	2|0	RIPK1|RIPK1	3050890|3050890	0.001000|0.001000	0.12720|0.12720	0.006000|0.006000	0.13384|0.13384	0.812000|0.812000	0.45895|0.45895	0.491000|0.491000	0.22419|0.22419	0.029000|0.029000	0.15352|0.15352	0.655000|0.655000	0.94253|0.94253	CAG|AGA		0.532	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		26	65	0	0	0	0	26	65				
HIVEP1	3096	broad.mit.edu	37	6	12122650	12122650	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:12122650C>G	ENST00000379388.2	+	4	2954	c.2622C>G	c.(2620-2622)ttC>ttG	p.F874L		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	874					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTGGCACTTTCTATGATGATG	0.473																																						uc003nac.2		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(2620-2622)TTC>TTG		human immunodeficiency virus type I enhancer							102.0	98.0	100.0					6																	12122650		1923	4138	6061	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12122650C>G	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2622C>G	6.37:g.12122650C>G	ENSP00000368698:p.Phe874Leu					HIVEP1_uc011diq.1_RNA	p.F874L	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	2801	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	874					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.2622C>G	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.157836	0.00321	.	.	ENSG00000095951	ENST00000379388	T	0.06371	3.31	6.02	-1.87	0.07737	.	0.428172	0.17425	N	0.174675	T	0.00815	0.0027	N	0.12443	0.215	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.44251	-0.9340	9	.	.	.	-1.2511	2.9773	0.05942	0.181:0.2749:0.3771:0.167	.	874	P15822	ZEP1_HUMAN	L	874	ENSP00000368698:F874L	.	F	+	3	2	HIVEP1	12230636	0.071000	0.21146	0.190000	0.23270	0.198000	0.23893	-0.757000	0.04772	-0.233000	0.09797	-0.169000	0.13324	TTC		0.473	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		24	134	0	0	0	0	24	134				
HIST1H2BD	3017	broad.mit.edu	37	6	26158508	26158508	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:26158508C>G	ENST00000289316.2	+	1	135	c.111C>G	c.(109-111)agC>agG	p.S37R	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.S37R	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	37					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						GCAAGGAGAGCTATTCAGTGT	0.542																																						uc003ngr.2		NA																	0				ovary(1)|pancreas(1)	2						c.(109-111)AGC>AGG		histone cluster 1, H2bd							192.0	178.0	183.0					6																	26158508		2203	4300	6503	SO:0001583	missense	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158508C>G	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.111C>G	6.37:g.26158508C>G	ENSP00000289316:p.Ser37Arg					HIST1H2BD_uc003ngs.2_Missense_Mutation_p.S37R	p.S37R	NM_021063	NP_066407	P58876	H2B1D_HUMAN			1	160	+			37						Missense_Mutation	SNP	ENST00000289316.2	37	c.111C>G	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	17.21	3.332283	0.60853	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.68765	-0.35;-0.35	5.19	3.31	0.37934	Histone-fold (2);Histone core (1);	0.000000	0.49916	D	0.000135	T	0.74846	0.3770	M	0.92219	3.285	0.44652	D	0.997631	D	0.59357	0.985	P	0.57425	0.82	T	0.78922	-0.2013	10	0.87932	D	0	.	8.6504	0.34031	0.0:0.7485:0.0:0.2515	.	37	P58876	H2B1D_HUMAN	R	37	ENSP00000367008:S37R;ENSP00000289316:S37R	ENSP00000289316:S37R	S	+	3	2	HIST1H2BD	26266487	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	0.939000	0.28978	0.785000	0.33685	-0.355000	0.07637	AGC		0.542	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		17	166	0	0	0	0	17	166				
TAF8	129685	broad.mit.edu	37	6	42036204	42036204	+	Splice_Site	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:42036204G>A	ENST00000372977.3	+	7	657	c.639G>A	c.(637-639)ttG>ttA	p.L213L	TAF8_ENST00000372982.4_Splice_Site_p.L213L|TAF8_ENST00000456846.2_Splice_Site_p.L213L|TAF8_ENST00000494547.1_Splice_Site_p.L213L|TAF8_ENST00000465926.1_Intron	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	213					cell differentiation (GO:0030154)|inner cell mass cell proliferation (GO:0001833)|maintenance of protein location in nucleus (GO:0051457)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fat cell differentiation (GO:0045598)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcription factor TFIID complex (GO:0005669)				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			ATTCGCCAGTGATTGCTGCCA	0.522																																						uc003ors.2		NA																	0				ovary(1)	1						c.(637-639)TTG>TTA		TBP-associated factor 8							295.0	293.0	294.0					6																	42036204		2066	4228	6294	SO:0001630	splice_region_variant	129685				cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding	g.chr6:42036204G>A	AK057383	CCDS43462.1	6p21.1	2008-10-23	2007-07-30	2007-07-30	ENSG00000137413	ENSG00000137413			17300	protein-coding gene	gene with protein product		609514	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa"", ""taube nuss homolog (mouse)"""	TBN			Standard	NM_138572		Approved	FLJ32821, TAF(II)43	uc003ors.3	Q7Z7C8	OTTHUMG00000014692	ENST00000372977.3:c.638-1G>A	6.37:g.42036204G>A						TAF8_uc003ort.2_Silent_p.L213L|TAF8_uc003oru.1_Silent_p.L213L|TAF8_uc003orv.1_Silent_p.L213L|TAF8_uc011dun.1_Intron	p.L213L	NM_138572	NP_612639	Q7Z7C8	TAF8_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)		7	668	+	Colorectal(47;0.196)		213					Q5T0K1|Q8N4R9|Q96M52	Silent	SNP	ENST00000372977.3	37	c.639G>A	CCDS43462.1																																																																																				0.522	TAF8-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357901.1	NM_138572	Silent	54	395	0	0	0	0	54	395				
ABCC10	89845	broad.mit.edu	37	6	43413457	43413457	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:43413457G>T	ENST00000372530.4	+	15	3366	c.3151G>T	c.(3151-3153)Gca>Tca	p.A1051S	ABCC10_ENST00000244533.3_Missense_Mutation_p.A1023S	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1051	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GGCCAACGCGGCAGGCCTGCT	0.647																																						uc003ouy.1		NA																	0				ovary(6)|central_nervous_system(1)	7						c.(3151-3153)GCA>TCA		ATP-binding cassette, sub-family C, member 10							49.0	44.0	46.0					6																	43413457		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43413457G>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3151G>T	6.37:g.43413457G>T	ENSP00000361608:p.Ala1051Ser					ABCC10_uc003ouz.1_Missense_Mutation_p.A1023S|ABCC10_uc010jyo.1_Missense_Mutation_p.A157S	p.A1051S	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		15	3366	+	all_lung(25;0.00536)		1051			ABC transmembrane type-1 2.|Helical; (Potential).		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.3151G>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661716	0.67700	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.94457	-3.43;-3.43	5.16	5.16	0.70880	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.875385	0.10086	N	0.717787	D	0.87795	0.6267	N	0.25825	0.765	0.24470	N	0.994397	B;B	0.33345	0.409;0.183	B;B	0.40782	0.34;0.171	T	0.81571	-0.0872	10	0.41790	T	0.15	-0.3744	11.6222	0.51124	0.0:0.0:0.7013:0.2987	.	1023;1051	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	S	1051;1023	ENSP00000361608:A1051S;ENSP00000244533:A1023S	ENSP00000244533:A1023S	A	+	1	0	ABCC10	43521435	0.981000	0.34729	0.113000	0.21522	0.923000	0.55619	6.786000	0.75094	2.676000	0.91093	0.655000	0.94253	GCA		0.647	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		8	56	1	0	0.000157383	0.000167353	8	56				
HTR1E	3354	broad.mit.edu	37	6	87726086	87726086	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:87726086C>A	ENST00000305344.5	+	2	1737	c.1034C>A	c.(1033-1035)aCg>aAg	p.T345K		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	345					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CTGCTCTATACGAGTTTTAAT	0.438																																						uc003pli.2		NA																	0				ovary(2)|skin(1)	3						c.(1033-1035)ACG>AAG		5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)						89.0	95.0	93.0					6																	87726086		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87726086C>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.1034C>A	6.37:g.87726086C>A	ENSP00000307766:p.Thr345Lys						p.T345K	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1737	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	345			Helical; Name=7; (By similarity).		E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.1034C>A	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.158429	0.78114	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.38560	1.13;1.13	4.61	4.61	0.57282	.	0.000000	0.64402	U	0.000006	T	0.72803	0.3506	H	0.96691	3.865	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.83933	0.0307	10	0.72032	D	0.01	.	17.4189	0.87508	0.0:1.0:0.0:0.0	.	345	P28566	5HT1E_HUMAN	K	345	ENSP00000307766:T345K;ENSP00000358597:T345K	ENSP00000307766:T345K	T	+	2	0	HTR1E	87782805	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.320000	0.79064	2.119000	0.64992	0.407000	0.27541	ACG		0.438	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		14	51	1	0	2e-07	2.22e-07	14	51				
EPHA7	2045	broad.mit.edu	37	6	94120310	94120310	+	Silent	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:94120310C>T	ENST00000369303.4	-	3	925	c.741G>A	c.(739-741)agG>agA	p.R247R	EPHA7_ENST00000369297.1_Silent_p.R247R	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	247	Cys-rich.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGCAGTGCATCCTGGGGGCGT	0.473																																						uc003poe.2		NA																	0				lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(739-741)AGG>AGA		ephrin receptor EphA7 precursor							94.0	93.0	93.0					6																	94120310		2203	4300	6503	SO:0001819	synonymous_variant	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94120310C>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.741G>A	6.37:g.94120310C>T						EPHA7_uc003pof.2_Silent_p.R247R|EPHA7_uc011eac.1_Silent_p.R247R|EPHA7_uc003pog.3_Silent_p.R247R	p.R247R	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	3	982	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	247			Extracellular (Potential).|Cys-rich.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	c.741G>A	CCDS5031.1																																																																																				0.473	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			9	37	0	0	0	0	9	37				
FOXO3	2309	broad.mit.edu	37	6	108984767	108984767	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:108984767G>C	ENST00000343882.6	+	3	1035	c.731G>C	c.(730-732)gGa>gCa	p.G244A	FOXO3_ENST00000406360.1_Missense_Mutation_p.G244A|FOXO3_ENST00000540898.1_Missense_Mutation_p.G24A	NM_201559.2	NP_963853.1	O43524	FOXO3_HUMAN	forkhead box O3	244				PDGGKSGKA -> LMGEERKT (in Ref. 6; CAA04860). {ECO:0000305}.	antral ovarian follicle growth (GO:0001547)|cellular response to oxidative stress (GO:0034599)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|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)|glucose homeostasis (GO:0042593)|initiation of primordial ovarian follicle growth (GO:0001544)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|ovulation from ovarian follicle (GO:0001542)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GGGAAGAGCGGAAAAGCCCCC	0.592																																						uc003psk.2		NA																	0				central_nervous_system(4)|lung(2)	6						c.(730-732)GGA>GCA		forkhead box O3A							21.0	23.0	22.0					6																	108984767		2192	4276	6468	SO:0001583	missense	2309				antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding	g.chr6:108984767G>C	AF032886	CCDS5068.1	6q21	2008-09-08	2007-05-02	2007-05-02	ENSG00000118689	ENSG00000118689		"""Forkhead boxes"""	3821	protein-coding gene	gene with protein product		602681		FKHRL1, FOXO3A		9479491	Standard	NM_001455		Approved	AF6q21, FOXO2	uc003psm.2	O43524	OTTHUMG00000015327	ENST00000343882.6:c.731G>C	6.37:g.108984767G>C	ENSP00000339527:p.Gly244Ala					FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Missense_Mutation_p.G244A|FOXO3_uc011ean.1_Missense_Mutation_p.G24A|FOXO3_uc010kdj.1_Missense_Mutation_p.G24A	p.G244A	NM_201559	NP_963853	O43524	FOXO3_HUMAN		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)	3	1047	+		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)	244	PDGGKSGKA -> LMGEERKT (in Ref. 5; CAA04860).		Fork-head.|Nuclear localization signal.		B4DVZ6|E1P5E6|O15171|Q5T2I7|Q9BZ04	Missense_Mutation	SNP	ENST00000343882.6	37	c.731G>C	CCDS5068.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336195	0.60963	.	.	ENSG00000118689	ENST00000343882;ENST00000406360;ENST00000540258;ENST00000540898	D;D	0.93712	-3.27;-3.27	5.74	5.74	0.90152	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (2);	0.000000	0.85682	D	0.000000	D	0.96812	0.8959	M	0.83852	2.665	0.80722	D	1	D	0.56035	0.974	D	0.69824	0.966	D	0.96713	0.9527	10	0.72032	D	0.01	-6.7924	19.9077	0.97014	0.0:0.0:1.0:0.0	.	244	O43524	FOXO3_HUMAN	A	244;244;24;24	ENSP00000339527:G244A;ENSP00000385824:G244A	ENSP00000339527:G244A	G	+	2	0	FOXO3	109091460	1.000000	0.71417	0.989000	0.46669	0.472000	0.32918	9.433000	0.97501	2.712000	0.92718	0.561000	0.74099	GGA		0.592	FOXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041722.2			9	19	0	0	0	0	9	19				
ROS1	6098	broad.mit.edu	37	6	117681060	117681060	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:117681060A>G	ENST00000368508.3	-	23	3758	c.3560T>C	c.(3559-3561)gTt>gCt	p.V1187A	ROS1_ENST00000368507.3_Missense_Mutation_p.V1182A|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1187					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGTGTAGCAAACGGCACTGAT	0.403			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1		NA		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		0				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(3559-3561)GTT>GCT		proto-oncogene c-ros-1 protein precursor							156.0	149.0	151.0					6																	117681060		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117681060A>G	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3560T>C	6.37:g.117681060A>G	ENSP00000357494:p.Val1187Ala					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.V1187A	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	23	3759	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1187			Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.3560T>C	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	A	8.205	0.799117	0.16397	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.92099	-2.97;-2.97	5.04	5.04	0.67666	.	0.574553	0.16876	N	0.195923	D	0.83431	0.5253	L	0.44542	1.39	0.58432	D	0.999995	B	0.12013	0.005	B	0.14023	0.01	T	0.80553	-0.1331	10	0.39692	T	0.17	.	12.8161	0.57667	1.0:0.0:0.0:0.0	.	1187	P08922	ROS1_HUMAN	A	1187;1182	ENSP00000357494:V1187A;ENSP00000357493:V1182A	ENSP00000357493:V1182A	V	-	2	0	ROS1	117787753	0.216000	0.23585	0.045000	0.18777	0.015000	0.08874	5.468000	0.66743	2.029000	0.59856	0.533000	0.62120	GTT		0.403	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			13	83	0	0	0	0	13	83				
CCDC170	80129	broad.mit.edu	37	6	151936765	151936765	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:151936765T>C	ENST00000239374.7	+	10	1997	c.1898T>C	c.(1897-1899)aTg>aCg	p.M633T	RNU6-813P_ENST00000384691.1_RNA|CCDC170_ENST00000367290.5_Missense_Mutation_p.M640T	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	633																	ACCAGTGAAATGAAGACACTA	0.398																																						uc003qol.2		NA																	0					0						c.(1897-1899)ATG>ACG		hypothetical protein LOC80129							141.0	137.0	139.0					6																	151936765		1834	4082	5916	SO:0001583	missense	80129							g.chr6:151936765T>C	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1898T>C	6.37:g.151936765T>C	ENSP00000239374:p.Met633Thr						p.M633T	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	10	1987	+		Ovarian(120;0.126)	633			Potential.		Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.1898T>C	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.819654	0.32145	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.08546	3.08;3.11	5.95	3.56	0.40772	.	0.356050	0.34853	N	0.003628	T	0.01870	0.0059	N	0.20685	0.6	0.32666	N	0.517457	B	0.09022	0.002	B	0.09377	0.004	T	0.43669	-0.9377	10	0.35671	T	0.21	-0.1172	10.2772	0.43517	0.0:0.133:0.0:0.867	.	633	Q8IYT3	CF097_HUMAN	T	633;640	ENSP00000239374:M633T;ENSP00000356259:M640T	ENSP00000239374:M633T	M	+	2	0	C6orf97	151978458	0.991000	0.36638	0.912000	0.35992	0.993000	0.82548	1.537000	0.36083	0.502000	0.28037	0.533000	0.62120	ATG		0.398	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		38	45	0	0	0	0	38	45				
FAM188B	84182	broad.mit.edu	37	7	30818091	30818091	+	Missense_Mutation	SNP	G	G	A	rs377520823		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:30818091G>A	ENST00000265299.6	+	2	184	c.107G>A	c.(106-108)cGc>cAc	p.R36H	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	36										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAACGCCCACGCTCTGACCTC	0.438																																						uc003tbt.2		NA																	0					0						c.(106-108)CGC>CAC		hypothetical protein LOC84182		G	HIS/ARG	0,3946		0,0,1973	96.0	96.0	96.0		107	4.4	1.0	7		96	1,8333		0,1,4166	no	missense	FAM188B	NM_032222.2	29	0,1,6139	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	36/758	30818091	1,12279	1973	4167	6140	SO:0001583	missense	84182							g.chr7:30818091G>A	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.107G>A	7.37:g.30818091G>A	ENSP00000265299:p.Arg36His					FAM188B_uc010kwe.2_Missense_Mutation_p.R7H	p.R36H	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			2	184	+			36					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.107G>A	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350188	0.82132	0.0	1.2E-4	ENSG00000106125	ENST00000265299	T	0.25414	1.8	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.50599	0.1625	M	0.78801	2.425	0.58432	D	0.999993	D	0.89917	1.0	D	0.87578	0.998	T	0.54794	-0.8240	10	0.87932	D	0	1.1055	12.7199	0.57136	0.0:0.0:1.0:0.0	.	36	Q4G0A6	F188B_HUMAN	H	36	ENSP00000265299:R36H	ENSP00000265299:R36H	R	+	2	0	FAM188B	30784616	0.994000	0.37717	0.997000	0.53966	0.991000	0.79684	5.643000	0.67895	2.469000	0.83416	0.561000	0.74099	CGC		0.438	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		15	62	0	0	0	0	15	62				
VPS41	27072	broad.mit.edu	37	7	38781699	38781699	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:38781699G>T	ENST00000310301.4	-	25	2199	c.2145C>A	c.(2143-2145)aaC>aaA	p.N715K	VPS41_ENST00000395969.2_Missense_Mutation_p.N690K	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	715					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TGCCAATGTTGTTTAACAAGC	0.323																																						uc003tgy.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(2143-2145)AAC>AAA		vacuolar protein sorting 41 isoform 1							61.0	60.0	61.0					7																	38781699		2202	4299	6501	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38781699G>T	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.2145C>A	7.37:g.38781699G>T	ENSP00000309457:p.Asn715Lys					VPS41_uc003tgz.2_Missense_Mutation_p.N690K|VPS41_uc010kxn.2_Missense_Mutation_p.N626K|VPS41_uc003tgx.2_RNA	p.N715K	NM_014396	NP_055211	P49754	VPS41_HUMAN			25	2171	-			715					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.2145C>A	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366715	0.41902	.	.	ENSG00000006715	ENST00000310301;ENST00000395969;ENST00000439468	T;T	0.16597	2.33;2.33	6.01	4.21	0.49690	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.16214	0.0390	M	0.65498	2.005	0.54753	D	0.999989	P;P;P	0.44816	0.69;0.844;0.844	B;B;B	0.36666	0.164;0.23;0.23	T	0.07481	-1.0770	10	0.14656	T	0.56	-29.2715	11.5309	0.50610	0.0644:0.0:0.8098:0.1259	.	715;690;715	B2RB94;E9PF36;P49754	.;.;VPS41_HUMAN	K	715;690;56	ENSP00000309457:N715K;ENSP00000379297:N690K	ENSP00000309457:N715K	N	-	3	2	VPS41	38748224	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.264000	0.51553	0.879000	0.35944	0.650000	0.86243	AAC		0.323	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3			6	27	1	0	0.000274275	0.000290992	6	27				
PKD1L1	168507	broad.mit.edu	37	7	47882701	47882701	+	Silent	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:47882701G>T	ENST00000289672.2	-	34	5354	c.5304C>A	c.(5302-5304)gtC>gtA	p.V1768V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1768					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TACTTTTAGCGACCAAAAATC	0.388																																						uc003tny.1		NA																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(5302-5304)GTC>GTA		polycystin-1L1							55.0	57.0	56.0					7																	47882701		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47882701G>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5304C>A	7.37:g.47882701G>T							p.V1768V	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			34	5304	-			1768			Helical; (Potential).		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.5304C>A	CCDS34633.1																																																																																				0.388	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		10	21	1	0	2.18e-05	2.37e-05	10	21				
SEMA3A	10371	broad.mit.edu	37	7	83610760	83610760	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:83610760G>A	ENST00000265362.4	-	14	1843	c.1529C>T	c.(1528-1530)gCc>gTc	p.A510V	SEMA3A_ENST00000436949.1_Missense_Mutation_p.A510V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	510	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AGGGAGCTGGGCAACCCCAGC	0.453																																						uc003uhz.2		NA																	0				ovary(2)|breast(1)|kidney(1)	4						c.(1528-1530)GCC>GTC		semaphorin 3A precursor							58.0	57.0	58.0					7																	83610760		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83610760G>A	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1529C>T	7.37:g.83610760G>A	ENSP00000265362:p.Ala510Val						p.A510V	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			14	1844	-			510			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.1529C>T	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550304	0.27739	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.20069	2.1;2.1	5.71	4.83	0.62350	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.151446	0.64402	N	0.000012	T	0.07279	0.0184	N	0.01640	-0.785	0.45284	D	0.998288	B	0.13145	0.007	B	0.08055	0.003	T	0.20505	-1.0273	10	0.02654	T	1	.	14.7248	0.69336	0.0693:0.0:0.9307:0.0	.	510	Q14563	SEM3A_HUMAN	V	510	ENSP00000265362:A510V;ENSP00000415260:A510V	ENSP00000265362:A510V	A	-	2	0	SEMA3A	83448696	1.000000	0.71417	0.066000	0.19879	0.039000	0.13416	6.745000	0.74860	1.415000	0.47037	-0.140000	0.14226	GCC		0.453	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		6	25	0	0	0	0	6	25				
FZD1	8321	broad.mit.edu	37	7	90895581	90895581	+	Silent	SNP	C	C	T	rs150597135		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:90895581C>T	ENST00000287934.2	+	1	1799	c.1386C>T	c.(1384-1386)atC>atT	p.I462I		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	462					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCATCACCATCCTGGCGCTGG	0.647																																						uc003ula.2		NA																	0					0						c.(1384-1386)ATC>ATT		frizzled 1 precursor							116.0	107.0	110.0					7																	90895581		2203	4300	6503	SO:0001819	synonymous_variant	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895581C>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1386C>T	7.37:g.90895581C>T							p.I462I	NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1799	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		462			Helical; Name=4; (Potential).		A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	c.1386C>T	CCDS5620.1																																																																																				0.647	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		27	86	0	0	0	0	27	86				
AKAP9	10142	broad.mit.edu	37	7	91632007	91632007	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:91632007G>C	ENST00000359028.2	+	9	3037	c.2812G>C	c.(2812-2814)Gaa>Caa	p.E938Q	AKAP9_ENST00000358100.2_Missense_Mutation_p.E938Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E926Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	938	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTTGTAGCAGAAACATTGGA	0.358			T	BRAF	papillary thyroid																																	uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(2776-2778)GAA>CAA		A-kinase anchor protein 9 isoform 2							45.0	45.0	45.0					7																	91632007		2202	4298	6500	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91632007G>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2812G>C	7.37:g.91632007G>C	ENSP00000351922:p.Glu938Gln					AKAP9_uc003ule.2_Missense_Mutation_p.E938Q|AKAP9_uc003ulf.2_Missense_Mutation_p.E926Q|AKAP9_uc003uli.2_Missense_Mutation_p.E551Q	p.E926Q	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	3001	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		938			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.2776G>C		.	.	.	.	.	.	.	.	.	.	G	9.506	1.104505	0.20632	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.04809	3.55;3.55;3.55	5.28	5.28	0.74379	.	0.000000	0.40554	N	0.001076	T	0.21307	0.0513	M	0.67953	2.075	0.46725	D	0.999179	D;D;D;D	0.89917	0.998;0.996;0.999;1.0	P;D;D;D	0.74348	0.863;0.922;0.935;0.983	T	0.00106	-1.2055	10	0.66056	D	0.02	.	19.2695	0.94003	0.0:0.0:1.0:0.0	.	938;926;926;938	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	Q	926;938;938;938;938	ENSP00000348573:E926Q;ENSP00000351922:E938Q;ENSP00000350813:E938Q	ENSP00000348573:E926Q	E	+	1	0	AKAP9	91469943	1.000000	0.71417	0.174000	0.22961	0.115000	0.19883	6.039000	0.70972	2.608000	0.88229	0.655000	0.94253	GAA		0.358	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		9	38	0	0	0	0	9	38				
PEX1	5189	broad.mit.edu	37	7	92147568	92147568	+	Splice_Site	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:92147568T>C	ENST00000248633.4	-	4	454	c.359A>G	c.(358-360)gAg>gGg	p.E120G	PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Splice_Site_p.E120G|PEX1_ENST00000541751.1_5'Flank	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	120					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGCATGCAGCTCCTAGAACCA	0.313																																						uc003uly.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(358-360)GAG>GGG		peroxin1							71.0	71.0	71.0					7																	92147568		2203	4300	6503	SO:0001630	splice_region_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92147568T>C	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.358-1A>G	7.37:g.92147568T>C						PEX1_uc011khr.1_5'UTR|PEX1_uc010ley.2_Missense_Mutation_p.E120G|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_5'Flank	p.E120G	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		4	455	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	120					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.359A>G	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	T	19.50	3.840232	0.71488	.	.	ENSG00000127980	ENST00000248633;ENST00000428214;ENST00000545192	D;D	0.97209	-4.27;-4.29	5.93	5.93	0.95920	Peroxisome biogenesis factor 1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98592	0.9529	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99709	1.1006	10	0.87932	D	0	-20.1882	16.3783	0.83418	0.0:0.0:0.0:1.0	.	120	O43933	PEX1_HUMAN	G	120	ENSP00000248633:E120G;ENSP00000394413:E120G	ENSP00000248633:E120G	E	-	2	0	PEX1	91985504	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	7.051000	0.76627	2.261000	0.74972	0.477000	0.44152	GAG		0.313	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466	Missense_Mutation	24	36	0	0	0	0	24	36				
SGCE	8910	broad.mit.edu	37	7	94257653	94257653	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:94257653G>A	ENST00000265735.7	-	3	361	c.251C>T	c.(250-252)cCc>cTc	p.P84L	SGCE_ENST00000445866.2_Missense_Mutation_p.P84L|SGCE_ENST00000428696.2_Missense_Mutation_p.P84L|SGCE_ENST00000447873.1_Missense_Mutation_p.P84L|SGCE_ENST00000437425.2_Missense_Mutation_p.P43L|SGCE_ENST00000415788.2_Missense_Mutation_p.P120L	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	84					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AAATGTTATGGGATCATTACT	0.368																																						uc003unl.2		NA																	0				ovary(1)	1						c.(250-252)CCC>CTC		sarcoglycan, epsilon isoform 2							66.0	63.0	64.0					7																	94257653		2203	4299	6502	SO:0001583	missense	8910				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr7:94257653G>A	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.251C>T	7.37:g.94257653G>A	ENSP00000265735:p.Pro84Leu					SGCE_uc003unm.2_Missense_Mutation_p.P84L|SGCE_uc003unn.2_Missense_Mutation_p.P84L|SGCE_uc011kic.1_Missense_Mutation_p.P43L|SGCE_uc011kid.1_Missense_Mutation_p.P120L	p.P84L	NM_003919	NP_003910	O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		3	362	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		84			Extracellular (Potential).		B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	37	c.251C>T	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.611823	0.87258	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D;D	0.98512	-4.97;-4.97;-4.38;-4.97;-4.97;-4.97	5.5	5.5	0.81552	Dystroglycan-type cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.98607	0.9534	L	0.53249	1.67	0.80722	D	1	D;D;P;P;D	0.89917	1.0;0.999;0.568;0.889;1.0	D;D;P;P;D	0.87578	0.993;0.997;0.627;0.749;0.998	D	0.99734	1.1013	10	0.59425	D	0.04	-10.8822	19.7702	0.96361	0.0:0.0:1.0:0.0	.	120;43;84;84;84	B7Z2R4;E9PEH6;E9PF60;G5E9K6;O43556	.;.;.;.;SGCE_HUMAN	L	84;84;43;84;84;120	ENSP00000265735:P84L;ENSP00000398930:P84L;ENSP00000394061:P43L;ENSP00000388734:P84L;ENSP00000397536:P84L;ENSP00000405313:P120L	ENSP00000265735:P84L	P	-	2	0	SGCE	94095589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.296000	0.96104	2.749000	0.94314	0.650000	0.86243	CCC		0.368	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			13	22	0	0	0	0	13	22				
BRAF	673	broad.mit.edu	37	7	140501295	140501295	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:140501295G>C	ENST00000288602.6	-	6	837	c.777C>G	c.(775-777)ttC>ttG	p.F259L		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	259					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TTTGACAGCGGAAACCCTGGA	0.358		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.3		61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	0				thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(775-777)TTC>TTG		B-Raf	Sorafenib(DB00398)						58.0	55.0	56.0					7																	140501295		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140501295G>C	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.777C>G	7.37:g.140501295G>C	ENSP00000288602:p.Phe259Leu						p.F259L	NM_004333	NP_004324	P15056	BRAF_HUMAN			6	838	-	Melanoma(164;0.00956)		259			Phorbol-ester/DAG-type.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.777C>G	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571910	0.86542	.	.	ENSG00000157764	ENST00000288602	D	0.91894	-2.93	5.33	4.46	0.54185	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.045926	0.85682	N	0.000000	D	0.89836	0.6830	L	0.28344	0.845	0.80722	D	1	P	0.48503	0.911	P	0.49752	0.621	D	0.90732	0.4643	10	0.87932	D	0	.	13.9147	0.63890	0.0732:0.0:0.9268:0.0	.	259	P15056	BRAF_HUMAN	L	259	ENSP00000288602:F259L	ENSP00000288602:F259L	F	-	3	2	BRAF	140147764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.784000	0.62411	1.259000	0.44117	0.561000	0.74099	TTC		0.358	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		5	31	0	0	0	0	5	31				
CHPF2	54480	broad.mit.edu	37	7	150935153	150935153	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:150935153G>C	ENST00000035307.2	+	4	3218	c.1705G>C	c.(1705-1707)Gag>Cag	p.E569Q	MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.E561Q|RP4-548D19.3_ENST00000607902.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	569					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGTGCGAGCAGAGGCCCCTTC	0.632																																						uc003wjr.1		NA																	0				ovary(1)	1						c.(1705-1707)GAG>CAG		chondroitin polymerizing factor 2							34.0	37.0	36.0					7																	150935153		2202	4300	6502	SO:0001583	missense	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150935153G>C	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1705G>C	7.37:g.150935153G>C	ENSP00000035307:p.Glu569Gln					CHPF2_uc003wjq.1_Missense_Mutation_p.E561Q|MIR671_hsa-mir-671|MI0003760_5'Flank	p.E569Q	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN			4	3218	+			569			Lumenal (Potential).		B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	c.1705G>C	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285836	0.80803	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.15834	2.39;2.39	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	L	0.56769	1.78	0.80722	D	1	D;D	0.67145	0.996;0.994	D;P	0.68765	0.96;0.87	T	0.02743	-1.1116	10	0.31617	T	0.26	-25.1034	16.8572	0.86009	0.0:0.0:1.0:0.0	.	569;561	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	Q	561;569;569	ENSP00000418914:E561Q;ENSP00000035307:E569Q	ENSP00000035307:E569Q	E	+	1	0	CHPF2	150566086	1.000000	0.71417	0.979000	0.43373	0.974000	0.67602	9.657000	0.98554	2.440000	0.82611	0.585000	0.79938	GAG		0.632	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		6	43	0	0	0	0	6	43				
GALNT11	63917	broad.mit.edu	37	7	151798008	151798008	+	Splice_Site	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr7:151798008T>C	ENST00000434507.1	+	5	856		c.e5+2		GALNT11_ENST00000415421.1_Splice_Site|GALNT11_ENST00000422997.2_Intron|GALNT11_ENST00000482812.1_Intron|GALNT11_ENST00000430044.2_Splice_Site|GALNT11_ENST00000452146.2_Splice_Site|GALNT11_ENST00000320311.2_Splice_Site			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11						cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		GAATGCAGCGTATGTGCCTTA	0.448																																						uc010lqg.1		NA																	0					0						c.e3+2		N-acetylgalactosaminyltransferase 11							159.0	140.0	146.0					7																	151798008		2203	4300	6503	SO:0001630	splice_region_variant	63917					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:151798008T>C	AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.419+2T>C	7.37:g.151798008T>C						GALNT11_uc011kvm.1_Splice_Site_p.A59_splice|GALNT11_uc003wku.2_Splice_Site_p.A140_splice|GALNT11_uc003wkv.1_Splice_Site_p.A140_splice|GALNT11_uc011kvn.1_Intron	p.A140_splice	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)	3	649	+	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)						B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Splice_Site	SNP	ENST00000434507.1	37	c.419_splice	CCDS5930.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793064	0.70452	.	.	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000423337;ENST00000434507;ENST00000415421;ENST00000320311;ENST00000419245;ENST00000447796	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8428	0.70237	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GALNT11	151428941	1.000000	0.71417	0.979000	0.43373	0.681000	0.39784	6.904000	0.75708	1.893000	0.54813	0.533000	0.62120	.		0.448	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348184.1	NM_022087	Intron	3	123	0	0	0	0	3	123				
CSGALNACT1	55790	broad.mit.edu	37	8	19315939	19315939	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:19315939G>A	ENST00000454498.2	-	5	1862	c.849C>T	c.(847-849)ttC>ttT	p.F283F	CSGALNACT1_ENST00000522854.1_Silent_p.F283F|CSGALNACT1_ENST00000544602.1_Silent_p.F283F|CSGALNACT1_ENST00000311540.4_Silent_p.F283F|CSGALNACT1_ENST00000332246.6_Silent_p.F283F|CSGALNACT1_ENST00000518542.1_5'UTR	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	283					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		AAACCAACCTGAAATTCTGCA	0.443																																						uc011kyn.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(847-849)TTC>TTT		chondroitin sulfate							273.0	259.0	264.0					8																	19315939		2203	4300	6503	SO:0001819	synonymous_variant	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19315939G>A	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.849C>T	8.37:g.19315939G>A						CSGALNACT1_uc011kyo.1_Silent_p.F283F|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Silent_p.F282F|CSGALNACT1_uc003wzh.2_RNA	p.F283F	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	5	1913	-			283			Lumenal (Potential).		B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	c.849C>T	CCDS6010.1																																																																																				0.443	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		46	141	0	0	0	0	46	141				
HR	55806	broad.mit.edu	37	8	21973860	21973860	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:21973860G>A	ENST00000381418.4	-	18	4940	c.3460C>T	c.(3460-3462)Cac>Tac	p.H1154Y	HR_ENST00000312841.8_Missense_Mutation_p.H1099Y	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1154	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGTCCCTGGTGGCAGAGCTGA	0.647																																						uc003xas.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(3460-3462)CAC>TAC		hairless protein isoform a							112.0	79.0	90.0					8																	21973860		2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21973860G>A	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.3460C>T	8.37:g.21973860G>A	ENSP00000370826:p.His1154Tyr					HR_uc003xat.2_Missense_Mutation_p.H1099Y	p.H1154Y	NM_005144	NP_005135	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	18	4125	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	1154			JmjC.		Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.3460C>T	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338028	0.41398	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.70282	-0.47;-0.47	5.1	3.32	0.38043	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.228469	0.30781	N	0.008900	T	0.54983	0.1892	L	0.47716	1.5	0.32894	D	0.512206	B;B	0.14805	0.011;0.0	B;B	0.14578	0.011;0.002	T	0.51764	-0.8664	10	0.02654	T	1	-11.3839	7.8888	0.29665	0.1882:0.0:0.8118:0.0	.	1099;1154	O43593-2;O43593	.;HAIR_HUMAN	Y	1154;1099	ENSP00000370826:H1154Y;ENSP00000326765:H1099Y	ENSP00000326765:H1099Y	H	-	1	0	HR	22029805	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	0.963000	0.29293	0.571000	0.29365	-0.126000	0.14955	CAC		0.647	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			11	13	0	0	0	0	11	13				
NEFL	4747	broad.mit.edu	37	8	24813613	24813613	+	RNA	SNP	G	G	C	rs545637885		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:24813613G>C	ENST00000221169.5	-	0	1011				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TCTCCTGCTCGTACAGCGCCC	0.682																																						uc003xee.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(415-417)TAC>TAG		neurofilament, light polypeptide 68kDa							11.0	12.0	12.0					8																	24813613		2024	4171	6195			4747				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	g.chr8:24813613G>C		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813613G>C							p.Y139*	NM_006158	NP_006149	P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	519	-		Ovarian(32;0.00965)|Prostate(55;0.157)	139			Rod.|Coil 1B.		B9ZVN2|Q16154|Q8IU72	Nonsense_Mutation	SNP	ENST00000221169.5	37	c.417C>G																																																																																					0.682	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158		4	11	0	0	0	0	4	11				
ZFHX4	79776	broad.mit.edu	37	8	77616773	77616773	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:77616773G>C	ENST00000521891.2	+	2	898	c.450G>C	c.(448-450)caG>caC	p.Q150H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q150H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q150H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q150H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAGTGGGCAGAATGCACAGA	0.488										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(448-450)CAG>CAC		zinc finger homeodomain 4							76.0	76.0	76.0					8																	77616773		1936	4143	6079	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616773G>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.450G>C	8.37:g.77616773G>C	ENSP00000430497:p.Gln150His	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.Q150H|ZFHX4_uc003yau.1_Missense_Mutation_p.Q150H|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q150H	p.Q150H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	837	+			150					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.450G>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906294	0.33628	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000517585;ENST00000518282	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	5.42	5.42	0.78866	.	0.000000	0.42294	U	0.000722	T	0.45236	0.1332	L	0.57536	1.79	0.54753	D	0.999986	B;B;B;P	0.52692	0.003;0.004;0.004;0.955	B;B;B;P	0.51135	0.005;0.01;0.01;0.66	T	0.39251	-0.9623	10	0.72032	D	0.01	.	19.416	0.94700	0.0:0.0:1.0:0.0	.	150;150;150;150	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	H	150	ENSP00000430497:Q150H;ENSP00000399605:Q150H;ENSP00000050961:Q150H;ENSP00000428525:Q150H;ENSP00000427775:Q150H;ENSP00000430848:Q150H	ENSP00000050961:Q150H	Q	+	3	2	ZFHX4	77779328	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.451000	0.73481	2.821000	0.97095	0.650000	0.86243	CAG		0.488	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		27	21	0	0	0	0	27	21				
TMEM64	169200	broad.mit.edu	37	8	91643854	91643854	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:91643854C>T	ENST00000458549.2	-	2	1054	c.877G>A	c.(877-879)Ggt>Agt	p.G293S	TMEM64_ENST00000418210.2_Intron|TMEM64_ENST00000519519.1_Missense_Mutation_p.G32S	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	293					cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			AGGGTGGTACCCAAGTAAGAA	0.423																																						uc003yen.2		NA																	0					0						c.(877-879)GGT>AGT		transmembrane protein 64 isoform 1							133.0	124.0	127.0					8																	91643854		2203	4300	6503	SO:0001583	missense	169200					integral to membrane		g.chr8:91643854C>T	AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.877G>A	8.37:g.91643854C>T	ENSP00000414786:p.Gly293Ser					TMEM64_uc003yeo.2_Missense_Mutation_p.G32S|TMEM64_uc011lgf.1_Intron	p.G293S	NM_001008495	NP_001008495	Q6YI46	TMM64_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0598)		2	877	-			293					B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	Missense_Mutation	SNP	ENST00000458549.2	37	c.877G>A	CCDS34920.2	.	.	.	.	.	.	.	.	.	.	C	36	5.849213	0.97023	.	.	ENSG00000180694	ENST00000458549;ENST00000519519;ENST00000521852	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.86406	0.5925	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.977;0.994	D	0.88490	0.3075	9	0.72032	D	0.01	.	19.9462	0.97183	0.0:1.0:0.0:0.0	.	32;293	Q6YI46-2;Q6YI46	.;TMM64_HUMAN	S	293;32;32	.	ENSP00000414786:G293S	G	-	1	0	TMEM64	91713030	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.693000	0.84214	2.717000	0.92951	0.585000	0.79938	GGT		0.423	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1	NM_001008495		106	51	0	0	0	0	106	51				
KIAA1429	25962	broad.mit.edu	37	8	95507153	95507153	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:95507153C>T	ENST00000297591.5	-	20	4651	c.4576G>A	c.(4576-4578)Gat>Aat	p.D1526N	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1526					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTCAACTGATCATCCATGACA	0.318																																						uc003ygo.1		NA																	0				ovary(1)|skin(1)	2						c.(4576-4578)GAT>AAT		hypothetical protein LOC25962 isoform 1							130.0	138.0	135.0					8																	95507153		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95507153C>T	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4576G>A	8.37:g.95507153C>T	ENSP00000297591:p.Asp1526Asn					KIAA1429_uc010maz.1_RNA	p.D1526N	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		20	4589	-	Breast(36;3.29e-05)		1526					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.4576G>A	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550367	0.86127	.	.	ENSG00000164944	ENST00000297591	T	0.46063	0.88	5.16	5.16	0.70880	.	0.055974	0.64402	D	0.000001	T	0.33059	0.0850	N	0.19112	0.55	0.80722	D	1	B	0.34290	0.447	B	0.33254	0.16	T	0.25847	-1.0120	10	0.62326	D	0.03	-16.8599	19.0186	0.92903	0.0:1.0:0.0:0.0	.	1526	Q69YN4	VIR_HUMAN	N	1526	ENSP00000297591:D1526N	ENSP00000297591:D1526N	D	-	1	0	KIAA1429	95576329	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.247000	0.78257	2.579000	0.87056	0.650000	0.86243	GAT		0.318	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		6	291	0	0	0	0	6	291				
KCNV1	27012	broad.mit.edu	37	8	110984685	110984685	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:110984685G>A	ENST00000524391.1	-	3	1825	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	KCNV1_ENST00000297404.1_Missense_Mutation_p.R265W|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	265					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CACCTGTCCCGCACACACAGG	0.532																																						uc003ynr.3		NA																	0				lung(1)|kidney(1)	2						c.(793-795)CGG>TGG		potassium channel, subfamily V, member 1							80.0	68.0	72.0					8																	110984685		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984685G>A	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.793C>T	8.37:g.110984685G>A	ENSP00000435954:p.Arg265Trp					KCNV1_uc010mcw.2_Missense_Mutation_p.R265W	p.R265W	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		2	1135	-	all_neural(195;0.219)		265			Cytoplasmic (Potential).		Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.793C>T	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273335	0.40194	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97772	-4.53;-4.53	5.7	2.48	0.30137	Ion transport (1);	0.126345	0.48767	D	0.000164	D	0.97841	0.9291	M	0.63208	1.945	0.35069	D	0.762328	D	0.76494	0.999	P	0.60473	0.875	D	0.99950	1.1533	10	0.72032	D	0.01	.	14.8744	0.70483	0.0:0.0:0.5211:0.4789	.	265	Q6PIU1	KCNV1_HUMAN	W	265;265;141	ENSP00000435954:R265W;ENSP00000297404:R265W	ENSP00000297404:R265W	R	-	1	2	KCNV1	111053861	0.753000	0.28349	1.000000	0.80357	0.997000	0.91878	0.606000	0.24194	0.706000	0.31912	0.557000	0.71058	CGG		0.532	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		38	46	0	0	0	0	38	46				
PTK2	5747	broad.mit.edu	37	8	141874416	141874416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:141874416G>A	ENST00000522684.1	-	5	674	c.445C>T	c.(445-447)Caa>Taa	p.Q149*	PTK2_ENST00000517887.1_Nonsense_Mutation_p.Q193*|PTK2_ENST00000395218.2_Nonsense_Mutation_p.Q149*|PTK2_ENST00000519419.1_Nonsense_Mutation_p.Q193*|PTK2_ENST00000340930.3_Nonsense_Mutation_p.Q149*|PTK2_ENST00000521059.1_Nonsense_Mutation_p.Q149*|PTK2_ENST00000535192.1_Nonsense_Mutation_p.Q149*	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	149	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AATACCTGTTGATAGAAGAAA	0.264																																						uc003yvu.2		NA																	0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(445-447)CAA>TAA		PTK2 protein tyrosine kinase 2 isoform a							67.0	75.0	72.0					8																	141874416		2198	4294	6492	SO:0001587	stop_gained	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141874416G>A	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.445C>T	8.37:g.141874416G>A	ENSP00000429911:p.Gln149*					PTK2_uc003yvr.2_Nonsense_Mutation_p.Q48*|PTK2_uc003yvs.2_Nonsense_Mutation_p.Q149*|PTK2_uc003yvt.2_Nonsense_Mutation_p.Q171*|PTK2_uc003yvv.2_Nonsense_Mutation_p.Q36*|PTK2_uc011ljr.1_Nonsense_Mutation_p.Q149*	p.Q149*	NM_153831	NP_722560	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		5	675	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	149			FERM.		B4E2N6|F5H4S4|Q14291|Q9UD85	Nonsense_Mutation	SNP	ENST00000522684.1	37	c.445C>T	CCDS6381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.244331|5.244331	0.95272|0.95272	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000340930;ENST00000519419;ENST00000520828;ENST00000520475|ENST00000519654	.|.	.|.	.|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.051634|.	0.85682|.	D|.	0.000000|.	.|T	.|0.73806	.|0.3634	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72760	.|-0.4196	.|4	0.37606|.	T|.	0.19|.	.|.	17.6794|17.6794	0.88238|0.88238	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	149;149;193;149;59;149;56;149;193;48;149|159	.|.	ENSP00000341189:Q149X|.	Q|S	-|-	1|2	0|0	PTK2|PTK2	141943598|141943598	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	7.249000|7.249000	0.78278|0.78278	2.475000|2.475000	0.83589|0.83589	0.313000|0.313000	0.20887|0.20887	CAA|TCA		0.264	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607		11	134	0	0	0	0	11	134				
RIC1	57589	broad.mit.edu	37	9	5763345	5763345	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:5763345A>G	ENST00000414202.2	+	19	2509	c.2318A>G	c.(2317-2319)cAc>cGc	p.H773R	KIAA1432_ENST00000449720.2_Missense_Mutation_p.H657R|KIAA1432_ENST00000418622.3_Missense_Mutation_p.H694R|KIAA1432_ENST00000251879.6_Missense_Mutation_p.H773R|KIAA1432_ENST00000381532.2_Missense_Mutation_p.H694R	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CTGCCTTTCCACATCAACATT	0.478																																						uc003zji.2		NA																	0					0						c.(2080-2082)CAC>CGC		connexin 43-interacting protein 150 isoform a							258.0	239.0	246.0					9																	5763345		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5763345A>G																												ENST00000414202.2:c.2318A>G	9.37:g.5763345A>G	ENSP00000416696:p.His773Arg					KIAA1432_uc003zjh.2_Missense_Mutation_p.H694R|KIAA1432_uc003zjl.3_Missense_Mutation_p.H657R|KIAA1432_uc003zjj.1_Missense_Mutation_p.H236R	p.H694R	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	18	2174	+		Acute lymphoblastic leukemia(23;0.154)	773						Missense_Mutation	SNP	ENST00000414202.2	37	c.2081A>G	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	A	14.01	2.406636	0.42715	.	.	ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.	.	.	5.78	5.78	0.91487	Ribosome control protein 1 (1);	0.000000	0.85682	D	0.000000	T	0.45776	0.1359	N	0.25647	0.755	0.80722	D	1	P;P;P;P	0.44877	0.81;0.845;0.845;0.774	P;B;P;B	0.46076	0.498;0.306;0.503;0.155	T	0.29610	-1.0006	9	0.15499	T	0.54	-16.8294	16.1067	0.81230	1.0:0.0:0.0:0.0	.	657;694;773;773	B7ZM67;B2RN24;Q4ADV7;G5E932	.;.;RIC1_HUMAN;.	R	773;773;694;694;657	.	ENSP00000251879:H773R	H	+	2	0	KIAA1432	5753345	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.000000	0.76290	2.201000	0.70794	0.459000	0.35465	CAC		0.478	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			41	67	0	0	0	0	41	67				
RIC1	57589	broad.mit.edu	37	9	5763371	5763371	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:5763371C>A	ENST00000414202.2	+	19	2535	c.2344C>A	c.(2344-2346)Ctg>Atg	p.L782M	KIAA1432_ENST00000449720.2_Missense_Mutation_p.L666M|KIAA1432_ENST00000418622.3_Missense_Mutation_p.L703M|KIAA1432_ENST00000251879.6_Missense_Mutation_p.L782M|KIAA1432_ENST00000381532.2_Missense_Mutation_p.L703M	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GCTAGCTGTTCTGTTTGAAGA	0.478																																						uc003zji.2		NA																	0					0						c.(2107-2109)CTG>ATG		connexin 43-interacting protein 150 isoform a							278.0	263.0	268.0					9																	5763371		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5763371C>A																												ENST00000414202.2:c.2344C>A	9.37:g.5763371C>A	ENSP00000416696:p.Leu782Met					KIAA1432_uc003zjh.2_Missense_Mutation_p.L703M|KIAA1432_uc003zjl.3_Missense_Mutation_p.L666M|KIAA1432_uc003zjj.1_Missense_Mutation_p.L245M	p.L703M	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	18	2200	+		Acute lymphoblastic leukemia(23;0.154)	782						Missense_Mutation	SNP	ENST00000414202.2	37	c.2107C>A	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.75|16.75	3.208742|3.208742	0.58343|0.58343	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	5.78|5.78	4.89|4.89	0.63831|0.63831	Ribosome control protein 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81014|0.81014	0.4735|0.4735	M|M	0.92122|0.92122	3.275|3.275	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;0.999|.	D|D	0.84898|0.84898	0.0840|0.0840	9|5	0.72032|.	D|.	0.01|.	-10.6383|-10.6383	11.8022|11.8022	0.52133|0.52133	0.0:0.8486:0.0:0.1514|0.0:0.8486:0.0:0.1514	.|.	666;703;782;782|.	B7ZM67;B2RN24;Q4ADV7;G5E932|.	.;.;RIC1_HUMAN;.|.	M|Y	782;782;703;703;666|673	.|.	ENSP00000251879:L782M|.	L|S	+|+	1|2	2|0	KIAA1432|KIAA1432	5753371|5753371	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.906000|0.906000	0.53458|0.53458	3.120000|3.120000	0.50430|0.50430	1.458000|1.458000	0.47871|0.47871	-0.221000|-0.221000	0.12465|0.12465	CTG|TCT		0.478	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			47	82	1	0	1.33e-27	1.57e-27	47	82				
RIC1	57589	broad.mit.edu	37	9	5765734	5765734	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:5765734G>T	ENST00000414202.2	+	21	3264	c.3073G>T	c.(3073-3075)Gtt>Ttt	p.V1025F	KIAA1432_ENST00000449720.2_Missense_Mutation_p.V909F|KIAA1432_ENST00000418622.3_Missense_Mutation_p.V946F|KIAA1432_ENST00000251879.6_Missense_Mutation_p.V1025F|KIAA1432_ENST00000381532.2_Missense_Mutation_p.V946F	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AGCTGAAAATGTTCCTGCCAG	0.408																																						uc003zji.2		NA																	0					0						c.(2836-2838)GTT>TTT		connexin 43-interacting protein 150 isoform a							113.0	120.0	118.0					9																	5765734		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5765734G>T																												ENST00000414202.2:c.3073G>T	9.37:g.5765734G>T	ENSP00000416696:p.Val1025Phe					KIAA1432_uc003zjh.2_Missense_Mutation_p.V946F|KIAA1432_uc003zjl.3_Missense_Mutation_p.V909F|KIAA1432_uc003zjj.1_Missense_Mutation_p.V488F|ERMP1_uc011lme.1_RNA	p.V946F	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	20	2929	+		Acute lymphoblastic leukemia(23;0.154)	1025						Missense_Mutation	SNP	ENST00000414202.2	37	c.2836G>T	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.436|6.436	0.448497|0.448497	0.12223|0.12223	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000545641|ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.|.	.|.	.|.	5.93|5.93	3.97|3.97	0.46021|0.46021	.|.	.|0.310631	.|0.34531	.|N	.|0.003881	T|T	0.29223|0.29223	0.0727|0.0727	N|N	0.08118|0.08118	0|0	0.54753|0.54753	D|D	0.99998|0.99998	.|B;B;B;B	.|0.06786	.|0.0;0.001;0.0;0.001	.|B;B;B;B	.|0.08055	.|0.0;0.001;0.001;0.003	T|T	0.12528|0.12528	-1.0544|-1.0544	5|9	.|0.51188	.|T	.|0.08	-14.9011|-14.9011	7.829|7.829	0.29332|0.29332	0.0:0.2592:0.4921:0.2487|0.0:0.2592:0.4921:0.2487	.|.	.|909;946;1025;1025	.|B7ZM67;B2RN24;Q4ADV7;G5E932	.|.;.;RIC1_HUMAN;.	F|F	916|1025;1025;946;946;909	.|.	.|ENSP00000251879:V1025F	C|V	+|+	2|1	0|0	KIAA1432|KIAA1432	5755734|5755734	0.999000|0.999000	0.42202|0.42202	0.919000|0.919000	0.36401|0.36401	0.501000|0.501000	0.33797|0.33797	0.829000|0.829000	0.27449|0.27449	2.814000|2.814000	0.96858|0.96858	0.563000|0.563000	0.77884|0.77884	TGT|GTT		0.408	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			6	48	1	0	1.26e-09	1.43e-09	6	48				
ZNF462	58499	broad.mit.edu	37	9	109688481	109688481	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:109688481G>C	ENST00000277225.5	+	3	2577	c.2288G>C	c.(2287-2289)aGa>aCa	p.R763T	ZNF462_ENST00000457913.1_Missense_Mutation_p.R763T|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	763					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATATGGGTAAGAGATACCAGT	0.488																																						uc004bcz.2		NA																	0				ovary(5)	5						c.(2287-2289)AGA>ACA		zinc finger protein 462							94.0	93.0	93.0					9																	109688481		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688481G>C	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2288G>C	9.37:g.109688481G>C	ENSP00000277225:p.Arg763Thr					ZNF462_uc010mto.2_Missense_Mutation_p.R611T|ZNF462_uc004bda.2_Missense_Mutation_p.R611T	p.R763T	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			3	2577	+			763					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.2288G>C	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806854	0.31961	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.06849	3.25;3.69	5.87	4.97	0.65823	.	0.184787	0.64402	D	0.000017	T	0.08044	0.0201	L	0.32530	0.975	0.80722	D	1	P;B	0.41848	0.763;0.18	B;B	0.36608	0.229;0.11	T	0.31364	-0.9946	9	.	.	.	.	17.038	0.86481	0.0:0.1272:0.8728:0.0	.	763;763	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	T	763	ENSP00000277225:R763T;ENSP00000414570:R763T	.	R	+	2	0	ZNF462	108728302	1.000000	0.71417	0.842000	0.33263	0.953000	0.61014	5.689000	0.68234	1.457000	0.47850	0.650000	0.86243	AGA		0.488	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		7	30	0	0	0	0	7	30				
HDHD3	81932	broad.mit.edu	37	9	116136274	116136274	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:116136274G>A	ENST00000238379.5	-	2	1258	c.361C>T	c.(361-363)Ctg>Ttg	p.L121L	HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Silent_p.L121L	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	121						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			large_intestine(2)|liver(1)	3						CACTCCCTCAGGGTGTCCTCA	0.602																																						uc004bhi.1		NA																	0					0						c.(361-363)CTG>TTG		haloacid dehalogenase-like hydrolase domain							111.0	119.0	116.0					9																	116136274		2203	4300	6503	SO:0001819	synonymous_variant	81932						phosphoglycolate phosphatase activity|protein binding	g.chr9:116136274G>A	AK097067	CCDS6793.1	9q33.1	2006-04-12	2004-08-09	2004-08-12	ENSG00000119431	ENSG00000119431			28171	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 158"""	C9orf158		12477932	Standard	NM_031219		Approved	MGC12904	uc004bhi.1	Q9BSH5	OTTHUMG00000020524	ENST00000238379.5:c.361C>T	9.37:g.116136274G>A						HDHD3_uc004bhj.2_Silent_p.L121L|HDHD3_uc004bhk.2_Silent_p.L121L	p.L121L	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN			2	1145	-			121					B2RD47	Silent	SNP	ENST00000238379.5	37	c.361C>T	CCDS6793.1																																																																																				0.602	HDHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053731.1	NM_031219		27	102	0	0	0	0	27	102				
TNFSF8	944	broad.mit.edu	37	9	117666585	117666585	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:117666585T>C	ENST00000223795.2	-	4	444	c.331A>G	c.(331-333)Acc>Gcc	p.T111A	TNFSF8_ENST00000474301.1_5'UTR	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	111					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GACAACTTGGTTTTGTTTAGA	0.378																																						uc004bji.1		NA																	0				lung(3)|skin(2)|ovary(1)	6						c.(331-333)ACC>GCC		tumor necrosis factor (ligand) superfamily,							129.0	128.0	129.0					9																	117666585		2203	4300	6503	SO:0001583	missense	944				cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117666585T>C	L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.331A>G	9.37:g.117666585T>C	ENSP00000223795:p.Thr111Ala						p.T111A	NM_001244	NP_001235	P32971	TNFL8_HUMAN			4	518	-			111			Extracellular (Potential).		O43404	Missense_Mutation	SNP	ENST00000223795.2	37	c.331A>G	CCDS6810.1	.	.	.	.	.	.	.	.	.	.	T	12.09	1.832174	0.32421	.	.	ENSG00000106952	ENST00000223795	T	0.42900	0.96	5.42	2.91	0.33838	Tumour necrosis factor (2);Tumour necrosis factor-like (2);	0.278436	0.31438	N	0.007645	T	0.25865	0.0630	N	0.19112	0.55	0.09310	N	1	B	0.26363	0.147	B	0.24701	0.055	T	0.16305	-1.0407	10	0.44086	T	0.13	-15.8965	8.8502	0.35194	0.3745:0.0:0.0:0.6255	.	111	P32971	TNFL8_HUMAN	A	111	ENSP00000223795:T111A	ENSP00000223795:T111A	T	-	1	0	TNFSF8	116706406	0.046000	0.20272	0.906000	0.35671	0.943000	0.58893	-0.017000	0.12590	0.867000	0.35654	0.533000	0.62120	ACC		0.378	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055464.1			48	46	0	0	0	0	48	46				
STRBP	55342	broad.mit.edu	37	9	125909210	125909210	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:125909210G>T	ENST00000348403.5	-	13	1691	c.1262C>A	c.(1261-1263)tCt>tAt	p.S421Y	STRBP_ENST00000447404.2_Missense_Mutation_p.S421Y|STRBP_ENST00000360998.3_Missense_Mutation_p.S407Y	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	421	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CACATCTACAGACATTGTGAA	0.453																																						uc004bns.2		NA																	0				breast(1)|skin(1)	2						c.(1261-1263)TCT>TAT		spermatid perinuclear RNA binding protein							170.0	157.0	161.0					9																	125909210		2203	4300	6503	SO:0001583	missense	55342				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr9:125909210G>T	AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.1262C>A	9.37:g.125909210G>T	ENSP00000321347:p.Ser421Tyr					STRBP_uc004bnt.2_Missense_Mutation_p.S239Y|STRBP_uc004bnu.2_Missense_Mutation_p.S407Y|STRBP_uc004bnv.2_Missense_Mutation_p.S421Y|STRBP_uc004bnr.2_Missense_Mutation_p.S33Y	p.S421Y	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN			13	1692	-			421			DRBM 1.		Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Missense_Mutation	SNP	ENST00000348403.5	37	c.1262C>A	CCDS6851.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473560	0.84640	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	T;T;T	0.78364	-1.17;-1.17;-1.17	5.69	5.69	0.88448	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.90868	0.7131	M	0.91140	3.18	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.986;0.99	D	0.92360	0.5896	10	0.87932	D	0	-11.1178	18.8051	0.92034	0.0:0.0:1.0:0.0	.	421;407	Q96SI9;Q96SI9-2	STRBP_HUMAN;.	Y	421;421;407	ENSP00000415968:S421Y;ENSP00000321347:S421Y;ENSP00000354271:S407Y	ENSP00000321347:S421Y	S	-	2	0	STRBP	124949031	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.876000	0.87215	2.689000	0.91719	0.460000	0.39030	TCT		0.453	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1			27	56	1	0	2.66e-16	3.12e-16	27	56				
LRRC8A	56262	broad.mit.edu	37	9	131669481	131669481	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:131669481C>T	ENST00000259324.5	+	3	561	c.38C>T	c.(37-39)aCg>aTg	p.T13M	LRRC8A_ENST00000372599.3_Missense_Mutation_p.T13M|LRRC8A_ENST00000372600.4_Missense_Mutation_p.T13M	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	13					anion transport (GO:0006820)|cell volume homeostasis (GO:0006884)|pre-B cell differentiation (GO:0002329)|response to osmotic stress (GO:0006970)	cell surface (GO:0009986)|ion channel complex (GO:0034702)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TTTGCGGACACGCAGCCAGCA	0.567																																						uc004bwl.3		NA																	0					0						c.(37-39)ACG>ATG		leucine rich repeat containing 8 family, member							99.0	79.0	85.0					9																	131669481		2203	4300	6503	SO:0001583	missense	56262				pre-B cell differentiation	integral to membrane		g.chr9:131669481C>T	AB037858	CCDS35155.1	9q34.2	2014-09-17	2005-06-29	2005-06-29	ENSG00000136802	ENSG00000136802			19027	protein-coding gene	gene with protein product		608360	"""leucine rich repeat containing 8"""	LRRC8			Standard	NM_001127244		Approved	KIAA1437, FLJ10337	uc010myp.3	Q8IWT6	OTTHUMG00000020766	ENST00000259324.5:c.38C>T	9.37:g.131669481C>T	ENSP00000259324:p.Thr13Met					LRRC8A_uc010myp.2_Missense_Mutation_p.T13M|LRRC8A_uc010myq.2_Missense_Mutation_p.T13M	p.T13M	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN			3	292	+			13					Q6UXM2|Q8NCI0|Q9P2B1	Missense_Mutation	SNP	ENST00000259324.5	37	c.38C>T	CCDS35155.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161482	0.78226	.	.	ENSG00000136802	ENST00000372600;ENST00000372599;ENST00000259324	T;T;T	0.28255	1.62;1.62;1.62	5.67	5.67	0.87782	Leucine-rich repeat-containing protein 8, N-terminal (1);	0.093651	0.64402	D	0.000001	T	0.34978	0.0916	N	0.08118	0	0.53688	D	0.999971	D	0.65815	0.995	P	0.61201	0.885	T	0.40232	-0.9574	10	0.52906	T	0.07	.	18.7667	0.91876	0.0:1.0:0.0:0.0	.	13	Q8IWT6	LRC8A_HUMAN	M	13	ENSP00000361682:T13M;ENSP00000361680:T13M;ENSP00000259324:T13M	ENSP00000259324:T13M	T	+	2	0	LRRC8A	130709302	1.000000	0.71417	0.977000	0.42913	0.994000	0.84299	4.945000	0.63568	2.667000	0.90743	0.563000	0.77884	ACG		0.567	LRRC8A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054516.2	NM_019594		9	20	0	0	0	0	9	20				
PHKA2	5256	broad.mit.edu	37	X	18912411	18912411	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chrX:18912411G>A	ENST00000379942.4	-	32	4113	c.3448C>T	c.(3448-3450)Ctc>Ttc	p.L1150F	PHKA2-AS1_ENST00000439295.1_RNA|PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1150					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GTGTCCGAGAGCAGCGTCAGC	0.612																																						uc004cyv.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3448-3450)CTC>TTC		phosphorylase kinase, alpha 2 (liver)							96.0	69.0	78.0					X																	18912411		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18912411G>A		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.3448C>T	X.37:g.18912411G>A	ENSP00000369274:p.Leu1150Phe					uc004cyt.2_RNA|PHKA2_uc004cyu.3_Missense_Mutation_p.L456F|PHKA2_uc010nfe.1_Missense_Mutation_p.L182F|PHKA2_uc010nff.1_RNA	p.L1150F	NM_000292	NP_000283	P46019	KPB2_HUMAN			32	3878	-	Hepatocellular(33;0.183)		1150					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.3448C>T	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024601	0.75390	.	.	ENSG00000044446	ENST00000379942	D	0.92595	-3.07	5.51	5.51	0.81932	.	0.126281	0.52532	D	0.000065	D	0.91033	0.7179	M	0.80183	2.485	0.48288	D	0.999624	P	0.37083	0.581	B	0.35114	0.196	D	0.91143	0.4947	10	0.72032	D	0.01	-17.01	9.9338	0.41539	0.0:0.146:0.7:0.154	.	1150	P46019	KPB2_HUMAN	F	1150	ENSP00000369274:L1150F	ENSP00000369274:L1150F	L	-	1	0	PHKA2	18822332	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	1.772000	0.38552	2.289000	0.77006	0.600000	0.82982	CTC		0.612	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		28	12	0	0	0	0	28	12				
TAF7L	54457	broad.mit.edu	37	X	100547854	100547854	+	Silent	SNP	G	G	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chrX:100547854G>A	ENST00000372907.3	-	1	191	c.180C>T	c.(178-180)gaC>gaT	p.D60D	TAF7L_ENST00000356784.1_5'Flank|TAF7L_ENST00000372905.2_De_novo_Start_OutOfFrame	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	60					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GAGTGTCCTCGTCGGCAGGAA	0.562																																					Ovarian(104;431 1530 3210 15406 18594)	uc004ehb.2		NA																	0				breast(1)	1						c.(178-180)GAC>GAT		TATA box binding protein-associated factor, RNA							119.0	116.0	117.0					X																	100547854		2203	4300	6503	SO:0001819	synonymous_variant	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100547854G>A	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.180C>T	X.37:g.100547854G>A						TAF7L_uc004ehc.1_5'Flank	p.D60D	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN			1	192	-			60					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Silent	SNP	ENST00000372907.3	37	c.180C>T	CCDS35347.1																																																																																				0.562	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			7	175	0	0	0	0	7	175				
TENM1	10178	broad.mit.edu	37	X	123870838	123870838	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chrX:123870838C>G	ENST00000371130.3	-	4	808	c.745G>C	c.(745-747)Gtc>Ctc	p.V249L	TENM1_ENST00000422452.2_Missense_Mutation_p.V249L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	249	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTGTTCAGGACCCAGCTGTTA	0.502																																						uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(745-747)GTC>CTC		odz, odd Oz/ten-m homolog 1 isoform 3							197.0	177.0	184.0					X																	123870838		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123870838C>G	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.745G>C	X.37:g.123870838C>G	ENSP00000360171:p.Val249Leu					ODZ1_uc011muj.1_Missense_Mutation_p.V249L|ODZ1_uc010nqy.2_Missense_Mutation_p.V249L	p.V249L	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			4	809	-			249			Teneurin N-terminal.|Cytoplasmic (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.745G>C	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.254264	0.59212	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.25085	1.82;1.82	4.93	4.93	0.64822	Teneurin intracellular, N-terminal (2);	0.000000	0.56097	D	0.000033	T	0.27663	0.0680	L	0.28344	0.845	0.58432	D	0.999997	P;P;P	0.51791	0.876;0.876;0.948	B;P;P	0.49799	0.388;0.527;0.622	T	0.02126	-1.1209	10	0.30078	T	0.28	.	17.3061	0.87195	0.0:1.0:0.0:0.0	.	249;249;249	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	L	249	ENSP00000360171:V249L;ENSP00000403954:V249L	ENSP00000360171:V249L	V	-	1	0	ODZ1	123698519	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.294000	0.78760	2.009000	0.58944	0.600000	0.82982	GTC		0.502	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		168	88	0	0	0	0	168	88				
IGSF1	3547	broad.mit.edu	37	X	130409627	130409627	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chrX:130409627G>T	ENST00000361420.3	-	16	3088	c.3009C>A	c.(3007-3009)caC>caA	p.H1003Q	IGSF1_ENST00000370903.3_Missense_Mutation_p.H1008Q|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370904.1_Missense_Mutation_p.H994Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.H994Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1003	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)	p.H1003Q(2)		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						CTCCTTCTTTGTGCAGAATGT	0.527																																						uc004ewd.2		NA																	2	Substitution - Missense(2)		kidney(2)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.(3007-3009)CAC>CAA		immunoglobulin superfamily, member 1 isoform 1							113.0	98.0	103.0					X																	130409627		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:130409627G>T	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.3009C>A	X.37:g.130409627G>T	ENSP00000355010:p.His1003Gln					IGSF1_uc004ewe.3_Missense_Mutation_p.H997Q|IGSF1_uc004ewf.2_Missense_Mutation_p.H983Q	p.H1003Q	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			16	3247	-			1003			Extracellular (Potential).|Ig-like C2-type 10.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.3009C>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901242	0.33535	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.32	2.45	0.29901	Immunoglobulin-like fold (1);	0.341686	0.22142	N	0.064031	T	0.22820	0.0551	L	0.60455	1.87	0.26862	N	0.967927	D;P;D	0.63880	0.993;0.563;0.987	D;B;D	0.75020	0.972;0.387;0.985	T	0.03957	-1.0989	10	0.38643	T	0.18	.	6.9963	0.24784	0.096:0.3263:0.5777:0.0	.	994;447;1003	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	Q	994;1003;994;1008	ENSP00000359947:H994Q;ENSP00000355010:H1003Q;ENSP00000359941:H994Q;ENSP00000359940:H1008Q	ENSP00000355010:H1003Q	H	-	3	2	IGSF1	130237308	1.000000	0.71417	0.997000	0.53966	0.554000	0.35429	0.669000	0.25142	0.242000	0.21303	0.600000	0.82982	CAC		0.527	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			11	71	1	0	2.35e-11	2.69e-11	11	71				
MAGEA11	4110	broad.mit.edu	37	X	148798058	148798058	+	Silent	SNP	T	T	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chrX:148798058T>C	ENST00000355220.5	+	5	1014	c.912T>C	c.(910-912)tgT>tgC	p.C304C	MAGEA11_ENST00000333104.4_Silent_p.C275C	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	304	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GCATACAGTGTAATGAGCAGA	0.502																																						uc004fdq.2		NA																	0				ovary(2)	2						c.(910-912)TGT>TGC		melanoma antigen family A, 11 isoform a							139.0	126.0	130.0					X																	148798058		2203	4300	6503	SO:0001819	synonymous_variant	4110					cytoplasm|nucleus	protein binding	g.chrX:148798058T>C		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.912T>C	X.37:g.148798058T>C						HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Silent_p.C275C	p.C304C	NM_005366	NP_005357	P43364	MAGAB_HUMAN			5	1014	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		304			MAGE.		Q5ETU4|Q6ZRZ5	Silent	SNP	ENST00000355220.5	37	c.912T>C	CCDS48180.1																																																																																				0.502	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		23	101	0	0	0	0	23	101				
SPEN	23013	broad.mit.edu	37	1	16263993	16263994	+	Frame_Shift_Ins	INS	-	-	C	rs141820706		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:16263993_16263994insC	ENST00000375759.3	+	12	10566_10567	c.10362_10363insC	c.(10363-10365)cagfs	p.Q3455fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3455	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGCCCCAAAACAGCCGTTGTT	0.579																																						uc001axk.1		NA																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(10360-10365)AAACAGfs		spen homolog, transcriptional regulator																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16263993_16263994insC		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.10363dupC	1.37:g.16263994_16263994dupC	ENSP00000364912:p.Gln3455fs					SPEN_uc010obp.1_Frame_Shift_Ins_p.K3413fs	p.K3454fs	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	12	10566_10567	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	3454_3455			Pro-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Ins	INS	ENST00000375759.3	37	c.10362_10363insC	CCDS164.1																																																																																				0.579	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		7	86	NA	NA	NA	NA	7	86	---	---	---	---
CD58	965	broad.mit.edu	37	1	117087209	117087209	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:117087209delA	ENST00000369489.5	-	2	154	c.88delT	c.(88-90)tccfs	p.S30fs	CD58_ENST00000369487.3_Frame_Shift_Del_p.S30fs|CD58_ENST00000457047.2_Frame_Shift_Del_p.S30fs	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	30	Ig-like.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		ATTTGTTGGGAAAAACAGCTG	0.343																																						uc001egm.2		NA																	0					0						c.(88-90)TCCfs		CD58 molecule isoform 1							34.0	32.0	33.0					1																	117087209		2203	4299	6502	SO:0001589	frameshift_variant	965				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding	g.chr1:117087209delA	BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"""CD molecules"""	1688	protein-coding gene	gene with protein product		153420	"""CD58 antigen, (lymphocyte function-associated antigen 3)"""	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.88delT	1.37:g.117087209delA	ENSP00000358501:p.Ser30fs					CD58_uc001egn.2_RNA|CD58_uc010owy.1_Frame_Shift_Del_p.S30fs|CD58_uc001ego.1_RNA|CD58_uc001egp.3_Frame_Shift_Del_p.S30fs	p.S30fs	NM_001779	NP_001770	P19256	LFA3_HUMAN		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)	2	209	-	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)	30			Extracellular (Potential).		A8K7G5|Q5U053|Q6IB65|Q96KI9	Frame_Shift_Del	DEL	ENST00000369489.5	37	c.88delT	CCDS888.1																																																																																				0.343	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1	NM_001779		14	12	NA	NA	NA	NA	14	12	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144994620	144994623	+	Frame_Shift_Del	DEL	CATA	CATA	-	rs587621396		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr1:144994620_144994623delCATA	ENST00000369354.3	-	1	298_301	c.109_112delTATG	c.(109-114)tatgagfs	p.YE37fs	PDE4DIP_ENST00000369351.3_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.YE103fs|PDE4DIP_ENST00000369349.3_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000369359.4_Frame_Shift_Del_p.YE174fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.YE174fs|PDE4DIP_ENST00000369347.4_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.YE37fs|PDE4DIP_ENST00000369348.3_Frame_Shift_Del_p.YE174fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	37					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)		CGGCTGGCCTCATACTTCTGTTGC	0.608			T	PDGFRB	MPD																																	uc001elw.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(109-114)TATGAGfs		phosphodiesterase 4D interacting protein isoform																																				SO:0001589	frameshift_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144994620_144994623delCATA	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.109_112delTATG	1.37:g.144994620_144994623delCATA	ENSP00000358360:p.Tyr37fs					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Frame_Shift_Del_p.Y37fs|PDE4DIP_uc001ell.1_Frame_Shift_Del_p.Y40fs|PDE4DIP_uc001elm.3_Frame_Shift_Del_p.Y5fs|PDE4DIP_uc001eln.3_Frame_Shift_Del_p.Y103fs|PDE4DIP_uc001elo.2_Frame_Shift_Del_p.Y174fs|PDE4DIP_uc001elx.3_Frame_Shift_Del_p.Y103fs|PDE4DIP_uc001emc.1_Frame_Shift_Del_p.Y37fs|PDE4DIP_uc001emd.1_Frame_Shift_Del_p.Y37fs|PDE4DIP_uc001emg.1_Frame_Shift_Del_p.Y37fs|PDE4DIP_uc001emh.2_Frame_Shift_Del_p.Y174fs	p.Y37fs	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	400_403	-			37_38					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Frame_Shift_Del	DEL	ENST00000369354.3	37	c.109_112delTATG	CCDS30824.1																																																																																				0.608	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		9	156	NA	NA	NA	NA	9	156	---	---	---	---
NRL	4901	broad.mit.edu	37	14	24551828	24551829	+	In_Frame_Ins	INS	-	-	GGT			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr14:24551828_24551829insGGT	ENST00000561028.1	-	2	548_549	c.229_230insACC	c.(229-231)acc>aACCcc	p.77_77T>NP	NRL_ENST00000397002.2_In_Frame_Ins_p.77_77T>NP|NRL_ENST00000396995.1_5'Flank|NRL_ENST00000560550.1_5'Flank|NRL_ENST00000396997.1_In_Frame_Ins_p.77_77T>NP			P54845	NRL_HUMAN	neural retina leucine zipper	77	Minimal transactivation domain (MTD).				positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of rhodopsin gene expression (GO:0007468)|response to stimulus (GO:0050896)|retinal rod cell development (GO:0046548)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		CTGCTGCAGGGTAGCCAGCCAG	0.658																																						uc001wlo.2		NA																	0					0						c.(229-231)ACC>AACCCC		neural retina leucine zipper																																				SO:0001652	inframe_insertion	4901				response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding	g.chr14:24551828_24551829insGGT		CCDS9608.1	14q11.1-q11.2	2013-01-08			ENSG00000129535	ENSG00000129535			8002	protein-coding gene	gene with protein product		162080				1427865, 10192380	Standard	NM_006177		Approved	D14S46E, RP27, NRL-MAF	uc021rrk.1	P54845	OTTHUMG00000028789	ENST00000561028.1:c.229_230insACC	14.37:g.24551828_24551829insGGT	ENSP00000454062:p.Thr77delinsAsnPro					NRL_uc001wlp.2_In_Frame_Ins_p.77_77T>NP|NRL_uc001wlq.2_In_Frame_Ins_p.77_77T>NP	p.77_77T>NP	NM_006177	NP_006168	P54845	NRL_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	2	360_361	-			77					A8MX14|Q53XD0	In_Frame_Ins	INS	ENST00000561028.1	37	c.229_230insACC	CCDS9608.1																																																																																				0.658	NRL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415595.1			9	57	NA	NA	NA	NA	9	57	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579410	7579420	+	Frame_Shift_Del	DEL	GGGGCCAGGAG	GGGGCCAGGAG	-	rs587783062		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr17:7579410_7579420delGGGGCCAGGAG	ENST00000269305.4	-	4	456_466	c.267_277delCTCCTGGCCCC	c.(265-279)ccctcctggcccctgfs	p.SWPL90fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.SWPL90fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.SWPL90fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.SWPL90fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.SWPL90fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.SWPL90fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	90	Interaction with WWOX.		S -> F (in sporadic cancers; somatic mutation).|S -> Y (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.W91*(20)|p.0?(8)|p.S90fs*59(6)|p.L93fs*30(5)|p.A88fs*32(3)|p.A76_S90del15(3)|p.G59fs*23(3)|p.P85fs*58(1)|p.W91fs*57(1)|p.W91fs*13(1)|p.A88fs*52(1)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93M(1)|p.P87fs*54(1)|p.P92fs*57(1)|p.S33fs*23(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P13fs*18(1)|p.S90F(1)|p.P92A(1)|p.P92L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAAGATGACAGGGGCCAGGAGGGGGCTGGTG	0.626		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		64	Deletion - Frameshift(22)|Substitution - Nonsense(20)|Whole gene deletion(8)|Insertion - Frameshift(7)|Substitution - Missense(4)|Deletion - In frame(3)	p.W91*(11)|p.0?(7)|p.A76_S90del15(3)|p.G59fs*23(3)|p.P89S(3)|p.L93fs*30(2)|p.P85fs*58(1)|p.W91fs*57(1)|p.W91fs*13(1)|p.A88fs*52(1)|p.V73fs*9(1)|p.D48fs*55(1)|p.L93M(1)|p.P87fs*54(1)|p.P89L(1)|p.P92fs*57(1)|p.S33fs*23(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P13fs*18(1)|p.P89fs*60(1)|p.S90F(1)|p.P92A(1)|p.P92L(1)	lung(16)|upper_aerodigestive_tract(8)|breast(8)|liver(7)|urinary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|prostate(4)|bone(4)|central_nervous_system(3)|skin(2)|stomach(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM065495	TP53	M		c.(265-279)CCCTCCTGGCCCCTGfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579410_7579420delGGGGCCAGGAG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.267_277delCTCCTGGCCCC	17.37:g.7579410_7579420delGGGGCCAGGAG	ENSP00000269305:p.Ser90fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.P89fs|TP53_uc002gih.2_Frame_Shift_Del_p.P89fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P89fs|TP53_uc010cni.1_Frame_Shift_Del_p.P89fs|TP53_uc002gij.2_Frame_Shift_Del_p.P89fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.P50fs|TP53_uc010cnk.1_Frame_Shift_Del_p.P104fs	p.P89fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	461_471	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	89_93		L -> P (in a sporadic cancer; somatic mutation).|L -> M (in a sporadic cancer; somatic mutation).	Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.267_277delCTCCTGGCCCC	CCDS11118.1																																																																																				0.626	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	52	NA	NA	NA	NA	23	52	---	---	---	---
ZNF155	7711	broad.mit.edu	37	19	44501449	44501450	+	Frame_Shift_Ins	INS	-	-	A	rs539072881	byFrequency	TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr19:44501449_44501450insA	ENST00000270014.2	+	5	1568_1569	c.1440_1441insA	c.(1441-1443)aaafs	p.K481fs	ZNF155_ENST00000407951.2_Frame_Shift_Ins_p.K492fs|ZNF155_ENST00000590615.1_Frame_Shift_Ins_p.K481fs|RP11-15A1.7_ENST00000589021.1_RNA|RP11-15A1.7_ENST00000586860.1_RNA	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	481					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				TCCACTGCCAGAAAAAACCATT	0.455													AAAAAA|AAAAAA|AAAAAAA|insertion	3	0.000599042	0.0008	0.0	5008	,	,		18146	0.0		0.001	False		,,,				2504	0.001				NSCLC(61;554 1277 20909 42067 42312)	uc002oxy.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(1438-1443)CAGAAAfs		zinc finger protein 155			,	0,4262		0,0,2131					,	-5.7	0.0			93	3,8251		0,3,4124	no	frameshift,frameshift	ZNF155	NM_198089.1,NM_003445.2	,	0,3,6255	A1A1,A1R,RR		0.0363,0.0,0.024	,	,		3,12513				SO:0001589	frameshift_variant	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44501449_44501450insA	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.1446dupA	19.37:g.44501455_44501455dupA	ENSP00000270014:p.Lys481fs					ZNF155_uc002oxz.1_Frame_Shift_Ins_p.Q480fs|ZNF155_uc010xwt.1_Frame_Shift_Ins_p.Q491fs|uc010ejc.1_RNA	p.Q480fs	NM_003445	NP_003436	Q12901	ZN155_HUMAN			5	1645_1646	+		Prostate(69;0.0352)	480_481					A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	Frame_Shift_Ins	INS	ENST00000270014.2	37	c.1440_1441insA	CCDS12634.1																																																																																				0.455	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		23	86	NA	NA	NA	NA	23	86	---	---	---	---
FHL2	2274	broad.mit.edu	37	2	105977793	105977794	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr2:105977793_105977794insG	ENST00000409807.1	-	6	1120_1121	c.786_787insC	c.(784-789)ggcttcfs	p.F263fs	AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000393352.3_Frame_Shift_Ins_p.F263fs|FHL2_ENST00000408995.1_Frame_Shift_Ins_p.F263fs|FHL2_ENST00000409177.1_Frame_Shift_Ins_p.F379fs|FHL2_ENST00000393353.3_Frame_Shift_Ins_p.F263fs|FHL2_ENST00000322142.8_Frame_Shift_Ins_p.F263fs|FHL2_ENST00000358129.4_Frame_Shift_Ins_p.F263fs|FHL2_ENST00000336660.5_3'UTR|FHL2_ENST00000344213.4_Frame_Shift_Ins_p.F373fs			Q14192	FHL2_HUMAN	four and a half LIM domains 2	263	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						TCTGTGAGGAAGCCACGCCCCA	0.5																																						uc002tcu.2		NA																	0				ovary(1)	1						c.(784-789)GGCTTCfs		four and a half LIM domains 2																																				SO:0001589	frameshift_variant	2274				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding	g.chr2:105977793_105977794insG		CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409807.1:c.787dupC	2.37:g.105977794_105977794dupG	ENSP00000386665:p.Phe263fs					FHL2_uc002tdc.2_Frame_Shift_Ins_p.G148fs|FHL2_uc002tdd.2_Frame_Shift_Ins_p.G262fs|FHL2_uc002tct.2_Frame_Shift_Ins_p.G148fs|FHL2_uc002tcv.2_Frame_Shift_Ins_p.G262fs|FHL2_uc002tcw.2_Frame_Shift_Ins_p.G262fs|FHL2_uc002tcx.2_Frame_Shift_Ins_p.G262fs|FHL2_uc010fje.2_Frame_Shift_Ins_p.G175fs|FHL2_uc002tcy.2_Frame_Shift_Ins_p.G262fs|FHL2_uc002tcz.2_Frame_Shift_Ins_p.G372fs|FHL2_uc002tda.2_RNA|FHL2_uc002tdb.2_Frame_Shift_Ins_p.G378fs	p.G262fs	NM_201557	NP_963851	Q14192	FHL2_HUMAN			6	1123_1124	-			262_263			LIM zinc-binding 4.		Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Frame_Shift_Ins	INS	ENST00000409807.1	37	c.786_787insC	CCDS2070.1																																																																																				0.500	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329654.1			30	64	NA	NA	NA	NA	30	64	---	---	---	---
WHSC1	7468	broad.mit.edu	37	4	1957868	1957869	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr4:1957868_1957869insC	ENST00000382895.3	+	17	3265_3266	c.2834_2835insC	c.(2833-2838)ggcagcfs	p.S946fs	WHSC1_ENST00000508803.1_Frame_Shift_Ins_p.S946fs|WHSC1_ENST00000382891.5_Frame_Shift_Ins_p.S946fs|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Frame_Shift_Ins_p.S294fs|WHSC1_ENST00000382892.2_Frame_Shift_Ins_p.S946fs	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	946					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGGACCGGGGCAGCCGCTACC	0.51			T	IGH@	MM																																	uc003gdz.3		NA		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(2833-2835)GGCfs		Wolf-Hirschhorn syndrome candidate 1 protein																																				SO:0001589	frameshift_variant	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1957868_1957869insC	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2835dupC	4.37:g.1957869_1957869dupC	ENSP00000372351:p.Ser946fs					WHSC1_uc003geb.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003gec.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003ged.3_Frame_Shift_Ins_p.G945fs|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Frame_Shift_Ins_p.G164fs|WHSC1_uc011bvh.1_Frame_Shift_Ins_p.G6fs|WHSC1_uc010icf.2_Frame_Shift_Ins_p.G293fs	p.G945fs	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	15	3010_3011	+		all_epithelial(65;1.34e-05)	945					A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Frame_Shift_Ins	INS	ENST00000382895.3	37	c.2834_2835insC	CCDS33940.1																																																																																				0.510	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330		30	214	NA	NA	NA	NA	30	214	---	---	---	---
FBXO30	84085	broad.mit.edu	37	6	146126707	146126708	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr6:146126707_146126708insA	ENST00000237281.4	-	2	1000_1001	c.834_835insT	c.(832-837)tatgacfs	p.D279fs		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	279							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GCAGAAGTGTCATAAGAACTTG	0.356																																						uc003qla.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(832-837)TATGACfs		F-box only protein 30																																				SO:0001589	frameshift_variant	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146126707_146126708insA	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.835dupT	6.37:g.146126708_146126708dupA	ENSP00000237281:p.Asp279fs					uc003qky.1_Intron	p.Y278fs	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	1033_1034	-		Ovarian(120;0.0776)	278_279					Q9BXZ7	Frame_Shift_Ins	INS	ENST00000237281.4	37	c.834_835insT	CCDS5208.1																																																																																				0.356	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			40	111	NA	NA	NA	NA	40	111	---	---	---	---
ERLIN2	11160	broad.mit.edu	37	8	37595472	37595473	+	Frame_Shift_Ins	INS	-	-	T	rs200790467		TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:37595472_37595473insT	ENST00000276461.5	+	2	99_100	c.32_33insT	c.(31-36)gcttccfs	p.S12fs	ERLIN2_ENST00000335171.6_Frame_Shift_Ins_p.S12fs|ERLIN2_ENST00000519638.1_Frame_Shift_Ins_p.S12fs|ERLIN2_ENST00000523107.1_Frame_Shift_Ins_p.S12fs|ERLIN2_ENST00000523887.1_Frame_Shift_Ins_p.S12fs|RP11-863K10.7_ENST00000330539.1_5'Flank|ERLIN2_ENST00000518586.1_Frame_Shift_Ins_p.S12fs|ERLIN2_ENST00000397228.2_Frame_Shift_Ins_p.S12fs	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	12					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTGGCTGTGGCTTCCAGTTTCT	0.5																																						uc003xke.3		NA																	0					0						c.(31-33)GCTfs		ER lipid raft associated 2 isoform 1																																				SO:0001589	frameshift_variant	11160				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding	g.chr8:37595472_37595473insT	AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.34dupT	8.37:g.37595474_37595474dupT	ENSP00000276461:p.Ser12fs					uc003xkb.1_5'Flank|ERLIN2_uc003xkc.3_Frame_Shift_Ins_p.A11fs|ERLIN2_uc003xkd.2_Frame_Shift_Ins_p.A11fs|ERLIN2_uc003xkf.3_Frame_Shift_Ins_p.A11fs|ERLIN2_uc003xkg.2_Frame_Shift_Ins_p.A11fs	p.A11fs	NM_007175	NP_009106	O94905	ERLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		2	147_148	+		Lung NSC(58;0.174)	11			Helical; (Potential).		A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Frame_Shift_Ins	INS	ENST00000276461.5	37	c.32_33insT	CCDS6095.1																																																																																				0.500	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376712.2	NM_007175		10	171	NA	NA	NA	NA	10	171	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100479733	100479733	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr8:100479733delG	ENST00000358544.2	+	24	3648	c.3537delG	c.(3535-3537)atgfs	p.M1179fs	VPS13B_ENST00000395996.1_Frame_Shift_Del_p.M1179fs|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.M1179fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1179					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGGAACCTATGGGTTGCACCT	0.443																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(3535-3537)ATGfs		vacuolar protein sorting 13B isoform 5							249.0	223.0	232.0					8																	100479733		2203	4300	6503	SO:0001589	frameshift_variant	157680				protein transport			g.chr8:100479733delG	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3537delG	8.37:g.100479733delG	ENSP00000351346:p.Met1179fs					VPS13B_uc003yiw.2_Frame_Shift_Del_p.M1179fs|VPS13B_uc003yiu.1_Frame_Shift_Del_p.M1179fs|VPS13B_uc003yix.1_Frame_Shift_Del_p.M649fs	p.M1179fs	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		24	3648	+	Breast(36;3.73e-07)		1179					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Frame_Shift_Del	DEL	ENST00000358544.2	37	c.3537delG	CCDS6280.1																																																																																				0.443	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		85	348	NA	NA	NA	NA	85	348	---	---	---	---
EPB41L4B	54566	broad.mit.edu	37	9	111945031	111945031	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chr9:111945031delA	ENST00000374566.3	-	24	2982	c.2465delT	c.(2464-2466)ttcfs	p.F822fs		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	822					actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCTGTGGTGAAAGTATCAGG	0.418																																						uc004bdz.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2464-2466)TTCfs		erythrocyte membrane protein band 4.1 like 4B							166.0	158.0	161.0					9																	111945031		1874	4094	5968	SO:0001589	frameshift_variant	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:111945031delA	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.2465delT	9.37:g.111945031delA	ENSP00000363694:p.Phe822fs						p.F822fs	NM_019114	NP_061987	Q9H329	E41LB_HUMAN			24	2760	-			822					Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Frame_Shift_Del	DEL	ENST00000374566.3	37	c.2465delT	CCDS43859.1																																																																																				0.418	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		63	50	NA	NA	NA	NA	63	50	---	---	---	---
RBM10	8241	broad.mit.edu	37	X	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CV-5430-01A-02D-1683-08	TCGA-CV-5430-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4dfcbe35-9e78-4629-8a00-96fee7062d1e	e879b6a8-15e5-434f-9d46-71e58b6d25c8	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggggag>ggg	p.E119del	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.66																																					Melanoma(171;120 2705 19495 39241)	uc004dhf.2		NA																	0				ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						c.(334-339)GGGGAG>GGG		RNA binding motif protein 10 isoform 1			,,,,	630,3068		53,380,144,1150,388					,,,,	4.2	1.0			18	1271,5155		67,669,468,1609,1268	no	intron,coding,coding,coding,intron	RBM10	NM_152856.2,NM_005676.4,NM_001204468.1,NM_001204467.1,NM_001204466.1	,,,,	120,1049,612,2759,1656	A1A1,A1R,A1,RR,R		19.779,17.0362,18.7772	,,,,	,,,,		1901,8223				SO:0001651	inframe_deletion	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030561_47030563delGGA	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.336_338delGGA	X.37:g.47030570_47030572delGGA	ENSP00000366829:p.Glu119del					RBM10_uc004dhe.1_In_Frame_Del_p.E109del|RBM10_uc004dhg.2_Intron|RBM10_uc004dhh.2_In_Frame_Del_p.E119del|RBM10_uc010nhq.2_Intron|RBM10_uc004dhi.2_In_Frame_Del_p.E184del	p.E119del	NM_005676	NP_005667	P98175	RBM10_HUMAN			4	715_717	+			119			Poly-Glu.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	37	c.336_338delGGA	CCDS14274.1																																																																																				0.660	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		10	128	NA	NA	NA	NA	10	128	---	---	---	---
