#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
PLOD1	5351	broad.mit.edu	37	1	12012751	12012751	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:12012751C>G	ENST00000196061.4	+	5	565	c.538C>G	c.(538-540)Cag>Gag	p.Q180E	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.Q227E	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	180					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	CGACAGCGATCAGCTGTTTTA	0.617																																						uc001atm.2		NA																	0				ovary(2)|breast(1)	3						c.(538-540)CAG>GAG		lysyl hydroxylase 1 precursor	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						95.0	88.0	90.0					1																	12012751		2203	4300	6503	SO:0001583	missense	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12012751C>G	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.538C>G	1.37:g.12012751C>G	ENSP00000196061:p.Gln180Glu					PLOD1_uc010obb.1_Missense_Mutation_p.Q227E	p.Q180E	NM_000302	NP_000293	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	5	629	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	180					B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	c.538C>G	CCDS142.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604697	0.87157	.	.	ENSG00000083444	ENST00000358133;ENST00000376369;ENST00000429000;ENST00000196061	T;T;T	0.39592	1.07;1.07;1.07	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.70762	0.3261	M	0.90483	3.12	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.986	T	0.78677	-0.2111	10	0.87932	D	0	.	16.5981	0.84802	0.0:1.0:0.0:0.0	.	227;180	B4DR87;Q02809	.;PLOD1_HUMAN	E	180;227;180;180	ENSP00000365548:Q227E;ENSP00000405372:Q180E;ENSP00000196061:Q180E	ENSP00000196061:Q180E	Q	+	1	0	PLOD1	11935338	1.000000	0.71417	0.998000	0.56505	0.783000	0.44284	7.596000	0.82721	2.380000	0.81148	0.555000	0.69702	CAG		0.617	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		9	69	0	0	0	0	9	69				
GRIK3	2899	broad.mit.edu	37	1	37324810	37324810	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:37324810C>T	ENST00000373091.3	-	7	1019	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	GRIK3_ENST00000373093.4_Missense_Mutation_p.V335M|GRIK3_ENST00000462621.1_5'Flank	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	335					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)			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)				TGGTAGCACACGGACACGATA	0.622																																						uc001caz.2		NA																	0				ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(1003-1005)GTG>ATG		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						143.0	123.0	130.0					1																	37324810		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.chr1:37324810C>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.1003G>A	1.37:g.37324810C>T	ENSP00000362183:p.Val335Met					GRIK3_uc001cba.1_Missense_Mutation_p.V335M	p.V335M	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			7	1138	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	335			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1003G>A	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883602	0.72410	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	D;D	0.81996	-1.56;-1.56	5.68	5.68	0.88126	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89473	0.6725	L	0.60455	1.87	0.51767	D	0.999931	D;D	0.69078	0.997;0.997	D;D	0.65684	0.937;0.91	D	0.88736	0.3240	10	0.49607	T	0.09	.	19.7849	0.96432	0.0:1.0:0.0:0.0	.	335;335	A9Z1Z8;Q13003	.;GRIK3_HUMAN	M	335	ENSP00000362183:V335M;ENSP00000362185:V335M	ENSP00000362183:V335M	V	-	1	0	GRIK3	37097397	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.773000	0.68898	2.671000	0.90904	0.650000	0.86243	GTG		0.622	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		11	112	0	0	0	0	11	112				
LEPR	3953	broad.mit.edu	37	1	66102651	66102651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:66102651C>T	ENST00000349533.6	+	20	3636	c.3451C>T	c.(3451-3453)Cag>Tag	p.Q1151*	LEPR_ENST00000406510.3_Nonsense_Mutation_p.Q218*	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTGTTCTACTCAGACTCATAA	0.338																																						uc001dci.2		NA																	0				skin(1)	1						c.(3451-3453)CAG>TAG		leptin receptor isoform 1							66.0	66.0	66.0					1																	66102651		2203	4300	6503	SO:0001587	stop_gained	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66102651C>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3451C>T	1.37:g.66102651C>T	ENSP00000330393:p.Gln1151*					LEPR_uc009waq.2_3'UTR	p.Q1151*	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	20	3653	+			1151			Cytoplasmic (Potential).		Q6FHL5	Nonsense_Mutation	SNP	ENST00000349533.6	37	c.3451C>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	40	8.187289	0.98696	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	.	.	.	5.73	4.75	0.60458	.	0.446142	0.25352	N	0.031295	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8417	11.2187	0.48842	0.3813:0.6187:0.0:0.0	.	.	.	.	X	1151;218	.	ENSP00000330393:Q1151X	Q	+	1	0	LEPR	65875239	0.931000	0.31567	1.000000	0.80357	0.931000	0.56810	3.882000	0.56160	2.697000	0.92050	0.585000	0.79938	CAG		0.338	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		5	91	0	0	0	0	5	91				
CHI3L2	1117	broad.mit.edu	37	1	111778658	111778658	+	Silent	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:111778658C>T	ENST00000445067.2	+	9	1389	c.618C>T	c.(616-618)ttC>ttT	p.F206F	CHI3L2_ENST00000466741.1_Silent_p.F127F|CHI3L2_ENST00000369748.4_Silent_p.F206F|CHI3L2_ENST00000524472.1_Silent_p.F127F|CHI3L2_ENST00000369744.2_Silent_p.F196F			Q15782	CH3L2_HUMAN	chitinase 3-like 2	206					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		ATCTGGATTTCATCAACCTCC	0.473																																						uc001eam.2		NA																	0				central_nervous_system(1)	1						c.(616-618)TTC>TTT		chitinase 3-like 2 isoform a							174.0	177.0	176.0					1																	111778658		2203	4300	6503	SO:0001819	synonymous_variant	1117				chitin catabolic process	extracellular space	cation binding|chitinase activity	g.chr1:111778658C>T	U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.618C>T	1.37:g.111778658C>T						CHI3L2_uc001ean.2_Silent_p.F196F|CHI3L2_uc001eao.2_Silent_p.F127F|CHI3L2_uc009wga.2_Silent_p.F127F	p.F206F	NM_004000	NP_003991	Q15782	CH3L2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)	7	689	+		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	206					A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Silent	SNP	ENST00000445067.2	37	c.618C>T	CCDS30802.1	.	.	.	.	.	.	.	.	.	.	C	8.163	0.789893	0.16258	.	.	ENSG00000064886	ENST00000533831	.	.	.	3.02	1.08	0.20341	.	.	.	.	.	T	0.39489	0.1080	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27502	-1.0072	4	.	.	.	-13.2014	6.7962	0.23727	0.0:0.7383:0.0:0.2617	.	.	.	.	L	83	.	.	S	+	2	0	CHI3L2	111580181	0.998000	0.40836	1.000000	0.80357	0.884000	0.51177	0.462000	0.21956	0.567000	0.29293	0.561000	0.74099	TCA		0.473	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033669.4	NM_004000		49	269	0	0	0	0	49	269				
ZNF697	90874	broad.mit.edu	37	1	120168657	120168657	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:120168657C>G	ENST00000421812.2	-	2	186	c.67G>C	c.(67-69)Gat>Cat	p.D23H		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	23					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TCCTCAAAATCAGAACCCATC	0.498																																						uc001ehy.1		NA																	0				ovary(1)	1						c.(67-69)GAT>CAT		zinc finger protein 697							200.0	197.0	198.0					1																	120168657		1904	4106	6010	SO:0001583	missense	90874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:120168657C>G	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.67G>C	1.37:g.120168657C>G	ENSP00000396857:p.Asp23His						p.D23H	NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	2	181	-	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)	23					Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	37	c.67G>C	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493663	0.44352	.	.	ENSG00000143067	ENST00000421812	T	0.16597	2.33	4.32	4.32	0.51571	.	.	.	.	.	T	0.09949	0.0244	L	0.27053	0.805	0.09310	N	0.999994	D	0.63046	0.992	P	0.52710	0.707	T	0.10917	-1.0609	9	0.62326	D	0.03	.	8.3529	0.32314	0.0:0.8969:0.0:0.1031	.	23	Q5TEC3	ZN697_HUMAN	H	23	ENSP00000396857:D23H	ENSP00000396857:D23H	D	-	1	0	ZNF697	119970180	0.993000	0.37304	0.286000	0.24833	0.647000	0.38526	4.335000	0.59298	2.711000	0.92665	0.561000	0.74099	GAT		0.498	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286		23	209	0	0	0	0	23	209				
S100A8	6279	broad.mit.edu	37	1	153362715	153362715	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:153362715T>C	ENST00000368733.3	-	3	315	c.146A>G	c.(145-147)aAg>aGg	p.K49R	S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.K49R	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	49	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|acute inflammatory response (GO:0002526)|autophagy (GO:0006914)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|wound healing (GO:0042060)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCTGCACCCTTTTTCTGTCA	0.507																																						uc001fbs.2		NA																	0					0						c.(145-147)AAG>AGG		S100 calcium-binding protein A8							115.0	115.0	115.0					1																	153362715		2203	4300	6503	SO:0001583	missense	6279				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	g.chr1:153362715T>C	BC005928	CCDS1038.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000143546	ENSG00000143546		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10498	protein-coding gene	gene with protein product		123885	"""S100 calcium-binding protein A8 (calgranulin A)"", ""S100 calcium binding protein A8 (calgranulin A)"""	CAGA, CFAG			Standard	NM_002964		Approved	P8, MRP8, 60B8AG, CGLA	uc001fbs.3	P05109	OTTHUMG00000013124	ENST00000368733.3:c.146A>G	1.37:g.153362715T>C	ENSP00000357722:p.Lys49Arg						p.K49R	NM_002964	NP_002955	P05109	S10A8_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	201	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		49			EF-hand 2.		A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Missense_Mutation	SNP	ENST00000368733.3	37	c.146A>G	CCDS1038.1	.	.	.	.	.	.	.	.	.	.	.	11.89	1.773606	0.31411	.	.	ENSG00000143546	ENST00000368733;ENST00000368732	T;T	0.07021	3.23;3.23	4.37	2.01	0.26516	EF-hand-like domain (1);	0.146302	0.64402	N	0.000011	T	0.01523	0.0049	.	.	.	0.09310	N	1	B	0.18741	0.03	B	0.17098	0.017	T	0.45877	-0.9231	9	0.36615	T	0.2	.	3.8238	0.08846	0.1858:0.1009:0.0:0.7134	.	49	P05109	S10A8_HUMAN	R	49	ENSP00000357722:K49R;ENSP00000357721:K49R	ENSP00000357721:K49R	K	-	2	0	S100A8	151629339	0.137000	0.22531	0.024000	0.17045	0.196000	0.23810	1.062000	0.30555	0.437000	0.26423	0.524000	0.50904	AAG		0.507	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036791.1	NM_002964		3	151	0	0	0	0	3	151				
MTX1	4580	broad.mit.edu	37	1	155178627	155178627	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:155178627G>A	ENST00000368376.3	+	1	138	c.32G>A	c.(31-33)cGc>cAc	p.R11H	RP11-263K19.6_ENST00000455788.1_RNA|THBS3_ENST00000368378.3_5'Flank|THBS3_ENST00000541990.1_5'Flank|THBS3_ENST00000486260.1_Intron|MTX1_ENST00000609421.1_5'Flank|MTX1_ENST00000316721.4_Missense_Mutation_p.R11H|THBS3_ENST00000457183.2_5'Flank	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	11					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCAGTCCCCGCTCGGGGACG	0.677																																						uc001fjb.2		NA																	0				skin(1)	1						c.(31-33)CGC>CAC		metaxin 1 isoform 1							7.0	10.0	9.0					1																	155178627		2076	4171	6247	SO:0001583	missense	4580				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding	g.chr1:155178627G>A		CCDS1100.1, CCDS1101.1	1q21	2008-07-18			ENSG00000173171	ENSG00000173171			7504	protein-coding gene	gene with protein product		600605		MTX		7753840	Standard	XM_006711338		Approved	MTXN	uc001fjb.3	Q13505	OTTHUMG00000035708	ENST00000368376.3:c.32G>A	1.37:g.155178627G>A	ENSP00000357360:p.Arg11His					RAG1AP1_uc010pey.1_Intron|THBS3_uc001fix.2_5'Flank|THBS3_uc009wqi.2_5'Flank|THBS3_uc001fiz.2_5'Flank|THBS3_uc001fiy.2_5'Flank|THBS3_uc010pfu.1_5'Flank|THBS3_uc010pfv.1_5'Flank|THBS3_uc001fja.2_Intron|THBS3_uc009wqj.1_Intron|MTX1_uc001fjc.2_Missense_Mutation_p.R11H	p.R11H	NM_002455	NP_002446	Q13505	MTX1_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		1	138	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		11					B1AVR9|B1AVS0|B2R9P4|Q9BUU3	Missense_Mutation	SNP	ENST00000368376.3	37	c.32G>A	CCDS1100.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.721071	0.30503	.	.	ENSG00000173171	ENST00000368376;ENST00000316721	T;T	0.53857	0.63;0.6	4.47	1.28	0.21552	.	0.411496	0.17904	N	0.158091	T	0.19765	0.0475	L	0.29908	0.895	0.09310	N	1	D;P	0.52996	0.957;0.874	P;B	0.44696	0.458;0.27	T	0.07539	-1.0767	10	0.59425	D	0.04	-8.1206	2.9817	0.05955	0.1019:0.1763:0.5403:0.1814	.	11;11	Q13505-2;Q13505	.;MTX1_HUMAN	H	11	ENSP00000357360:R11H;ENSP00000317106:R11H	ENSP00000317106:R11H	R	+	2	0	MTX1	153445251	0.006000	0.16342	0.224000	0.23877	0.376000	0.30014	0.923000	0.28757	0.484000	0.27630	0.561000	0.74099	CGC		0.677	MTX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086844.1	NM_198883		3	20	0	0	0	0	3	20				
PCP4L1	654790	broad.mit.edu	37	1	161254169	161254169	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:161254169G>A	ENST00000504449.1	+	3	353	c.105G>A	c.(103-105)gaG>gaA	p.E35E		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	35										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGGAGGAGGAGATTGACATTG	0.488																																						uc001gad.2		NA																	0					0						c.(103-105)GAG>GAA		Purkinje cell protein 4 like 1							105.0	104.0	104.0					1																	161254169		1976	4150	6126	SO:0001819	synonymous_variant	654790							g.chr1:161254169G>A	BC028905	CCDS53412.1	1q23.3	2006-02-27	2006-02-27		ENSG00000248485	ENSG00000248485			20448	protein-coding gene	gene with protein product			"""purkinje cell protein 4 like 1"""				Standard	NM_001102566		Approved	IQM1	uc001gad.3	A6NKN8	OTTHUMG00000034340	ENST00000504449.1:c.105G>A	1.37:g.161254169G>A							p.E35E	NM_001102566	NP_001096036	A6NKN8	PC4L1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	353	+	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		35					B2RV24|B9EJG4	Silent	SNP	ENST00000504449.1	37	c.105G>A	CCDS53412.1																																																																																				0.488	PCP4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082986.2			9	93	0	0	0	0	9	93				
CACNA1S	779	broad.mit.edu	37	1	201047194	201047194	+	Missense_Mutation	SNP	C	C	T	rs9333651		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:201047194C>T	ENST00000362061.3	-	11	1658	c.1432G>A	c.(1432-1434)Gag>Aag	p.E478K	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E478K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	478					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATCAGCATCTCAGTGGTGAAG	0.567																																						uc001gvv.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1432-1434)GAG>AAG		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						130.0	120.0	123.0					1																	201047194		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201047194C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1432G>A	1.37:g.201047194C>T	ENSP00000355192:p.Glu478Lys						p.E478K	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			11	1659	-			478			Helical; Name=S2 of repeat II; (Potential).|II.		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1432G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.853273	0.71719	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98822	-5.16;-5.16	4.78	4.78	0.61160	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99616	0.9860	H	0.99659	4.685	0.53688	D	0.999972	D	0.89917	1.0	D	0.91635	0.999	D	0.97210	0.9870	10	0.87932	D	0	.	18.141	0.89639	0.0:1.0:0.0:0.0	.	478	Q13698	CAC1S_HUMAN	K	478	ENSP00000355192:E478K;ENSP00000356307:E478K	ENSP00000355192:E478K	E	-	1	0	CACNA1S	199313817	1.000000	0.71417	0.934000	0.37439	0.317000	0.28152	7.795000	0.85887	2.351000	0.79841	0.643000	0.83706	GAG		0.567	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		22	100	0	0	0	0	22	100				
DIEXF	27042	broad.mit.edu	37	1	210012455	210012455	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:210012455G>A	ENST00000491415.2	+	7	1321	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	422					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GGGCAATATTGATGACCACTT	0.428																																						uc001hhr.1		NA																	0					0						c.(1264-1266)GAT>AAT		digestive-organ expansion factor homolog							108.0	106.0	107.0					1																	210012455		2203	4300	6503	SO:0001583	missense	27042				multicellular organismal development	nucleus		g.chr1:210012455G>A	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.1264G>A	1.37:g.210012455G>A	ENSP00000419005:p.Asp422Asn					C1orf107_uc009xcu.1_Missense_Mutation_p.D137N	p.D422N	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0367)	7	1340	+			422					O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	ENST00000491415.2	37	c.1264G>A	CCDS1493.1	.	.	.	.	.	.	.	.	.	.	G	35	5.470693	0.96274	.	.	ENSG00000117597	ENST00000491415	T	0.63744	-0.06	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.77805	0.4185	M	0.65320	2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75190	-0.3405	10	0.42905	T	0.14	-30.642	18.5737	0.91147	0.0:0.0:1.0:0.0	.	422	Q68CQ4	DIEXF_HUMAN	N	422	ENSP00000419005:D422N	ENSP00000419005:D422N	D	+	1	0	DIEXF	208079078	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.640000	0.98453	2.824000	0.97209	0.655000	0.94253	GAT		0.428	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089127.2	NM_014388		11	87	0	0	0	0	11	87				
CAPN2	824	broad.mit.edu	37	1	223957578	223957578	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:223957578C>G	ENST00000295006.5	+	17	2100	c.1791C>G	c.(1789-1791)ttC>ttG	p.F597L	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Missense_Mutation_p.F519L	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	597	Domain IV.|EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TGAAGGAGTTCTACATTCTCT	0.478																																						uc001hob.3		NA																	0				lung(3)|breast(1)|skin(1)	5						c.(1789-1791)TTC>TTG		calpain 2 isoform 1							85.0	75.0	78.0					1																	223957578		2203	4300	6503	SO:0001583	missense	824				proteolysis	cytoplasm|plasma membrane		g.chr1:223957578C>G	J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1791C>G	1.37:g.223957578C>G	ENSP00000295006:p.Phe597Leu					CAPN2_uc010puy.1_Missense_Mutation_p.F519L|CAPN2_uc001hoc.2_Missense_Mutation_p.F178L	p.F597L	NM_001748	NP_001739	P17655	CAN2_HUMAN		GBM - Glioblastoma multiforme(131;0.109)	17	2015	+			597			Domain IV.|EF-hand 1.		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	ENST00000295006.5	37	c.1791C>G	CCDS31035.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441258	0.83993	.	.	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.92249	-3.0;-3.0	5.69	5.69	0.88448	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.97222	0.9092	H	0.96604	3.85	0.80722	D	1	B;D;D	0.89917	0.185;1.0;1.0	P;D;D	0.97110	0.665;1.0;0.999	D	0.97533	1.0081	10	0.59425	D	0.04	.	11.9793	0.53111	0.0:0.9198:0.0:0.0802	.	519;180;597	B7ZA96;B3KUH9;P17655	.;.;CAN2_HUMAN	L	519;597;626	ENSP00000413158:F519L;ENSP00000295006:F597L	ENSP00000295006:F597L	F	+	3	2	CAPN2	222024201	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.983000	0.49345	2.683000	0.91414	0.591000	0.81541	TTC		0.478	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090973.1	NM_001748		2	5	0	0	0	0	2	5				
OBSCN	84033	broad.mit.edu	37	1	228433261	228433261	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:228433261C>G	ENST00000422127.1	+	12	3673	c.3629C>G	c.(3628-3630)tCa>tGa	p.S1210*	OBSCN_ENST00000570156.2_Nonsense_Mutation_p.S1302*|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.S1210*|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1210	Ig-like 12.|Poly-Ser.				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)				AGCTCCAGCTCAAAAGTACGC	0.627																																						uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(3628-3630)TCA>TGA		obscurin, cytoskeletal calmodulin and							99.0	97.0	97.0					1																	228433261		2081	4209	6290	SO:0001587	stop_gained	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.chr1:228433261C>G	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.3629C>G	1.37:g.228433261C>G	ENSP00000409493:p.Ser1210*					OBSCN_uc001hsn.2_Nonsense_Mutation_p.S1210*	p.S1210*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			12	3673	+		Prostate(94;0.0405)	1210			Poly-Ser.|Ig-like 12.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	c.3629C>G	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	38	6.937184	0.97948	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	.	.	.	4.63	1.3	0.21679	.	0.618785	0.14740	N	0.301258	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	6.7768	0.23624	0.5896:0.3118:0.0:0.0985	.	.	.	.	X	1210	.	ENSP00000284548:S1210X	S	+	2	0	OBSCN	226499884	0.457000	0.25752	0.103000	0.21229	0.024000	0.10985	1.188000	0.32102	0.402000	0.25451	0.306000	0.20318	TCA		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		16	102	0	0	0	0	16	102				
TARBP1	6894	broad.mit.edu	37	1	234529206	234529206	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:234529206C>A	ENST00000040877.1	-	28	4461	c.4462G>T	c.(4462-4464)Ggg>Tgg	p.G1488W	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1488					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACTGAAGCCCCAAATACCTCA	0.498																																						uc001hwd.2		NA																	0				ovary(2)|skin(1)	3						c.(4462-4464)GGG>TGG		TAR RNA binding protein 1							146.0	131.0	136.0					1																	234529206		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234529206C>A		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4462G>T	1.37:g.234529206C>A	ENSP00000040877:p.Gly1488Trp						p.G1488W	NM_005646	NP_005637	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		28	4462	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1488					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.4462G>T	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577499	0.65878	.	.	ENSG00000059588	ENST00000040877	T	0.47177	0.85	5.2	5.2	0.72013	tRNA/rRNA methyltransferase, SpoU (1);	0.000000	0.85682	D	0.000000	T	0.77890	0.4198	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83781	0.0225	10	0.87932	D	0	-16.9504	18.919	0.92518	0.0:1.0:0.0:0.0	.	1488	Q13395	TARB1_HUMAN	W	1488	ENSP00000040877:G1488W	ENSP00000040877:G1488W	G	-	1	0	TARBP1	232595829	1.000000	0.71417	0.997000	0.53966	0.322000	0.28314	7.320000	0.79064	2.713000	0.92767	0.650000	0.86243	GGG		0.498	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		14	74	1	0	4.37e-10	4.89e-10	14	74				
RGS7	6000	broad.mit.edu	37	1	241261998	241261998	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr1:241261998C>A	ENST00000407727.1	-	2	142	c.143G>T	c.(142-144)aGc>aTc	p.S48I	RGS7_ENST00000366563.1_Missense_Mutation_p.S48I|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000366564.1_Missense_Mutation_p.S48I|RGS7_ENST00000366562.4_Missense_Mutation_p.S48I|RGS7_ENST00000331110.7_Missense_Mutation_p.S22I|RGS7_ENST00000401882.1_Missense_Mutation_p.S48I|RGS7_ENST00000348120.2_Missense_Mutation_p.S48I|RGS7_ENST00000366565.1_Missense_Mutation_p.S48I			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	48	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GGAAAGAAAGCTTTTGACCGT	0.363																																						uc001hyv.2		NA																	0				ovary(4)|skin(2)|kidney(1)	7						c.(142-144)AGC>ATC		regulator of G-protein signaling 7							169.0	150.0	156.0					1																	241261998		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241261998C>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.143G>T	1.37:g.241261998C>A	ENSP00000384428:p.Ser48Ile					RGS7_uc010pyh.1_Missense_Mutation_p.S22I|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.S48I|RGS7_uc009xgn.1_Missense_Mutation_p.S48I|RGS7_uc001hyw.2_Missense_Mutation_p.S48I	p.S48I	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		3	473	-		all_cancers(173;0.0131)	48			DEP.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.143G>T		.	.	.	.	.	.	.	.	.	.	C	17.63	3.437739	0.62955	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000348120;ENST00000366562;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	M	0.77103	2.36	0.80722	D	1	D;D;D;D;P	0.89917	1.0;1.0;0.997;0.999;0.539	D;D;D;D;B	0.91635	0.999;0.999;0.981;0.993;0.439	T	0.28038	-1.0056	10	0.20519	T	0.43	-14.2578	14.3648	0.66799	0.0:1.0:0.0:0.0	.	22;48;48;48;48	B7Z257;P49802-4;P49802-2;P49802-5;P49802-3	.;.;.;.;.	I	22;48;48;48;48;48;48;48	ENSP00000331485:S22I;ENSP00000355523:S48I;ENSP00000355522:S48I;ENSP00000355521:S48I;ENSP00000341242:S48I;ENSP00000355520:S48I;ENSP00000384428:S48I;ENSP00000385508:S48I	ENSP00000331485:S22I	S	-	2	0	RGS7	239328621	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.591000	0.74090	2.525000	0.85131	0.655000	0.94253	AGC		0.363	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		10	51	1	0	1.09e-07	1.19e-07	10	51				
KLF6	1316	broad.mit.edu	37	10	3823969	3823969	+	Silent	SNP	C	C	G	rs565366896		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr10:3823969C>G	ENST00000497571.1	-	2	800	c.540G>C	c.(538-540)tcG>tcC	p.S180S	KLF6_ENST00000173785.4_Intron|KLF6_ENST00000469435.1_Silent_p.S180S|KLF6_ENST00000542957.1_Silent_p.S180S	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	180			S -> L (found in gastric cancer samples; somatic mutation). {ECO:0000269|PubMed:15824733}.		B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		CTGGCTTCCCCGAAGTCCCGC	0.627											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001iha.2		NA																	0				central_nervous_system(3)|lung(1)	4						c.(538-540)TCG>TCC		Kruppel-like factor 6 isoform A							71.0	65.0	67.0					10																	3823969		2203	4300	6503	SO:0001819	synonymous_variant	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3823969C>G	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	2235	protein-coding gene	gene with protein product	"""GC-rich binding factor"""	602053	"""core promoter element binding protein"""	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.540G>C	10.37:g.3823969C>G			OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	614	KLF6_uc010qaj.1_Silent_p.S180S|KLF6_uc010qak.1_Intron|KLF6_uc010qal.1_Silent_p.S180S|KLF6_uc001ihb.2_Silent_p.S180S	p.S180S	NM_001300	NP_001291	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	2	807	-			180		S -> L (found in gastric cancer samples; somatic mutation).			B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Silent	SNP	ENST00000497571.1	37	c.540G>C	CCDS7060.1																																																																																				0.627	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1			6	79	0	0	0	0	6	79				
SUPV3L1	6832	broad.mit.edu	37	10	70940261	70940261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr10:70940261C>T	ENST00000359655.4	+	1	274	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	72					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTGAAACCTCAGGGCCCCAG	0.637																																						uc001jpe.1		NA																	0				urinary_tract(1)|ovary(1)	2						c.(214-216)CAG>TAG		suppressor of var1, 3-like 1 precursor							53.0	61.0	58.0					10																	70940261		2203	4299	6502	SO:0001587	stop_gained	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70940261C>T	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.214C>T	10.37:g.70940261C>T	ENSP00000352678:p.Gln72*					SUPV3L1_uc010qjd.1_5'UTR	p.Q72*	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN			1	269	+			72					A8K301|O43630	Nonsense_Mutation	SNP	ENST00000359655.4	37	c.214C>T	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	C	38	6.757597	0.97817	.	.	ENSG00000156502	ENST00000359655;ENST00000422378	.	.	.	5.77	5.77	0.91146	.	0.549745	0.19804	N	0.105690	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	-3.8631	17.758	0.88455	0.0:1.0:0.0:0.0	.	.	.	.	X	72	.	ENSP00000352678:Q72X	Q	+	1	0	SUPV3L1	70610267	0.749000	0.28305	0.999000	0.59377	0.997000	0.91878	2.959000	0.49153	2.725000	0.93324	0.650000	0.86243	CAG		0.637	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		24	108	0	0	0	0	24	108				
KAT6B	23522	broad.mit.edu	37	10	76788729	76788729	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr10:76788729G>C	ENST00000287239.4	+	18	4636	c.4147G>C	c.(4147-4149)Gat>Cat	p.D1383H	KAT6B_ENST00000372711.1_Missense_Mutation_p.D1200H|KAT6B_ENST00000372724.1_Missense_Mutation_p.D1091H|KAT6B_ENST00000372725.1_Missense_Mutation_p.D1091H|KAT6B_ENST00000372714.1_Missense_Mutation_p.D1091H	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1383					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										aaaagaTCCAGATGGTGCTAA	0.468																																						uc001jwn.1		NA								T					CREBBP		AML		0				central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.(4147-4149)GAT>CAT		MYST histone acetyltransferase (monocytic							59.0	58.0	58.0					10																	76788729		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76788729G>C	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4147G>C	10.37:g.76788729G>C	ENSP00000287239:p.Asp1383His					MYST4_uc001jwo.1_Missense_Mutation_p.D1091H|MYST4_uc001jwp.1_Missense_Mutation_p.D1200H	p.D1383H	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			18	4640	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)		1383					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.4147G>C	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.166230	0.00318	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	4.61	-0.882	0.10604	.	0.978445	0.08334	N	0.961931	T	0.59622	0.2207	N	0.14661	0.345	0.09310	N	1	B;B;B	0.26876	0.115;0.115;0.162	B;B;B	0.34138	0.143;0.176;0.121	T	0.52170	-0.8611	10	0.62326	D	0.03	6.808	0.7614	0.01008	0.2709:0.125:0.3496:0.2545	.	1200;1091;1383	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	H	1091;1091;1383;1091;1200	ENSP00000361810:D1091H;ENSP00000361809:D1091H;ENSP00000287239:D1383H;ENSP00000361799:D1091H;ENSP00000361796:D1200H	ENSP00000287239:D1383H	D	+	1	0	KAT6B	76458735	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.287000	0.18920	-0.535000	0.06307	-0.181000	0.13052	GAT		0.468	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		7	46	0	0	0	0	7	46				
WDR11	55717	broad.mit.edu	37	10	122619653	122619653	+	Missense_Mutation	SNP	C	C	T	rs369243512		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr10:122619653C>T	ENST00000263461.6	+	4	631	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	283					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AGATGCTTCCCGCGATTTACT	0.448																																						uc010qtf.1		NA																	0					0						c.(385-387)CGC>TGC		bromodomain and WD repeat domain containing 2		C	CYS/ARG	0,4406		0,0,2203	172.0	144.0	154.0		385	2.8	0.9	10		154	1,8599	1.2+/-3.3	0,1,4299	no	missense	WDR11	NM_018117.11	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	129/1225	122619653	1,13005	2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122619653C>T	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.385C>T	10.37:g.122619653C>T	ENSP00000263461:p.Arg129Cys					WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR	p.R129C	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN			4	623	+			129			WD 2.		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.385C>T	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494464	0.44352	0.0	1.16E-4	ENSG00000120008	ENST00000263461	T	0.29142	1.58	5.74	2.77	0.32553	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.112593	0.64402	D	0.000011	T	0.29882	0.0747	L	0.50333	1.59	0.80722	D	1	D	0.64830	0.994	P	0.47744	0.556	T	0.03829	-1.1000	10	0.52906	T	0.07	-2.1744	6.3142	0.21180	0.242:0.5828:0.1091:0.0661	.	129	Q9BZH6	WDR11_HUMAN	C	129	ENSP00000263461:R129C	ENSP00000263461:R129C	R	+	1	0	WDR11	122609643	1.000000	0.71417	0.930000	0.37139	0.062000	0.15995	3.985000	0.56930	0.783000	0.33636	-0.229000	0.12294	CGC		0.448	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			26	89	0	0	0	0	26	89				
DPYSL4	10570	broad.mit.edu	37	10	134008424	134008424	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr10:134008424C>T	ENST00000338492.4	+	4	553	c.389C>T	c.(388-390)gCg>gTg	p.A130V	DPYSL4_ENST00000368627.1_Missense_Mutation_p.A53V|DPYSL4_ENST00000368629.1_Missense_Mutation_p.A53V|DPYSL4_ENST00000493882.1_3'UTR	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	130					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GCGGACAGCGCGGCCTGCTGC	0.662																																						uc009ybb.2		NA																	0				central_nervous_system(2)	2						c.(388-390)GCG>GTG		dihydropyrimidinase-like 4							63.0	53.0	56.0					10																	134008424		2203	4299	6502	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134008424C>T	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.389C>T	10.37:g.134008424C>T	ENSP00000339850:p.Ala130Val						p.A130V	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	4	543	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	130					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.389C>T	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444562	0.43429	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.90261	-2.64;-2.64;-2.64	4.48	-4.01	0.04045	Amidohydrolase 1 (1);	0.945754	0.08902	N	0.877031	T	0.79587	0.4471	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.64698	-0.6346	10	0.72032	D	0.01	-18.9093	1.2588	0.01997	0.1761:0.1628:0.2075:0.4535	.	130	O14531	DPYL4_HUMAN	V	130;53;53	ENSP00000339850:A130V;ENSP00000357618:A53V;ENSP00000357616:A53V	ENSP00000339850:A130V	A	+	2	0	DPYSL4	133858414	0.000000	0.05858	0.000000	0.03702	0.805000	0.45488	-0.310000	0.08135	-0.593000	0.05844	-0.263000	0.10527	GCG		0.662	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			13	81	0	0	0	0	13	81				
MRGPRE	116534	broad.mit.edu	37	11	3249416	3249416	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:3249416C>T	ENST00000389832.5	-	2	920	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	MRGPRE_ENST00000436689.2_Missense_Mutation_p.R204Q|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGGGGGCCTCGCTCCACCCG	0.682																																						uc001lxq.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(610-612)CGA>CAA		MAS-related GPR, member E							5.0	7.0	7.0					11																	3249416		2047	4119	6166	SO:0001583	missense	116534					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:3249416C>T	AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.614G>A	11.37:g.3249416C>T	ENSP00000374482:p.Arg205Gln						p.R204Q	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	921	-		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	204			Cytoplasmic (Potential).		Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37	c.611G>A		.	.	.	.	.	.	.	.	.	.	c	11.69	1.714738	0.30413	.	.	ENSG00000184350	ENST00000436689;ENST00000389832	.	.	.	3.9	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.371793	0.18994	U	0.125523	T	0.22551	0.0544	L	0.50333	1.59	0.09310	N	1	P	0.43578	0.811	B	0.32211	0.142	T	0.12091	-1.0561	9	0.25106	T	0.35	-1.0574	5.2303	0.15418	0.0:0.6727:0.2111:0.1163	.	204	Q86SM8	MRGRE_HUMAN	Q	205;204	.	ENSP00000374482:R204Q	R	-	2	0	MRGPRE	3205992	0.000000	0.05858	0.001000	0.08648	0.074000	0.17049	0.355000	0.20163	0.828000	0.34709	0.462000	0.41574	CGA		0.682	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536		3	8	0	0	0	0	3	8				
IPO7	10527	broad.mit.edu	37	11	9456494	9456494	+	Silent	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:9456494C>T	ENST00000379719.3	+	19	2230	c.2088C>T	c.(2086-2088)ctC>ctT	p.L696L	CTD-2371O3.2_ENST00000531111.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	696					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TGATGCCCCTCCTTCATAATT	0.313																																						uc001mho.2		NA																	0				lung(1)|breast(1)	2						c.(2086-2088)CTC>CTT		importin 7							118.0	114.0	115.0					11																	9456494		2201	4294	6495	SO:0001819	synonymous_variant	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9456494C>T	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2088C>T	11.37:g.9456494C>T							p.L696L	NM_006391	NP_006382	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	19	2230	+			696					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Silent	SNP	ENST00000379719.3	37	c.2088C>T	CCDS31425.1																																																																																				0.313	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		9	81	0	0	0	0	9	81				
TP53I11	9537	broad.mit.edu	37	11	44956498	44956498	+	Silent	SNP	G	G	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:44956498G>T	ENST00000533940.1	-	10	1111	c.507C>A	c.(505-507)ctC>ctA	p.L169L	TP53I11_ENST00000395648.3_Silent_p.L169L|TP53I11_ENST00000308212.5_Silent_p.L169L|TP53I11_ENST00000531130.2_5'Flank|TP53I11_ENST00000525680.1_Silent_p.L169L	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	169					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						CGACAAAAAGGAGGCGGCTGA	0.617																																						uc001myi.2		NA																	0				ovary(1)	1						c.(505-507)CTC>CTA		p53-induced protein							117.0	112.0	114.0					11																	44956498		2203	4299	6502	SO:0001819	synonymous_variant	9537				negative regulation of cell proliferation|response to stress	integral to membrane		g.chr11:44956498G>T	AF010315	CCDS7911.1	11p11.2	2005-09-22				ENSG00000175274			16842	protein-coding gene	gene with protein product						9305847	Standard	NM_006034		Approved	PIG11	uc001myk.3	O14683		ENST00000533940.1:c.507C>A	11.37:g.44956498G>T						TP53I11_uc001myf.1_Intron|TP53I11_uc001myj.2_Silent_p.L169L|TP53I11_uc001myk.2_Silent_p.L169L|TP53I11_uc001myl.2_Silent_p.L169L|TP53I11_uc001mym.2_Silent_p.L116L	p.L169L	NM_006034	NP_006025	O14683	P5I11_HUMAN			10	1112	-			169			Helical; (Potential).		Q3ZCS0	Silent	SNP	ENST00000533940.1	37	c.507C>A	CCDS7911.1																																																																																				0.617	TP53I11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389909.1	NM_006034		19	137	1	0	7.93e-12	8.94e-12	19	137				
ZBTB3	79842	broad.mit.edu	37	11	62520951	62520951	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:62520951A>T	ENST00000394807.3	-	2	461	c.336T>A	c.(334-336)gaT>gaA	p.D112E		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	112	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TACACACCAGATCCCTCTTGT	0.547																																						uc001nuz.2		NA																	0				breast(2)|ovary(1)	3						c.(334-336)GAT>GAA		zinc finger and BTB domain containing 3							90.0	88.0	89.0					11																	62520951		2202	4299	6501	SO:0001583	missense	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62520951A>T	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.336T>A	11.37:g.62520951A>T	ENSP00000378286:p.Asp112Glu						p.D112E	NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN			2	458	-			112			BTB.			Missense_Mutation	SNP	ENST00000394807.3	37	c.336T>A	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.675664	0.67928	.	.	ENSG00000185670	ENST00000394807;ENST00000527994	T;T	0.66280	-0.2;-0.2	5.82	-1.34	0.09143	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.104706	0.64402	D	0.000004	T	0.61248	0.2332	N	0.25485	0.75	0.33236	D	0.556587	D	0.71674	0.998	D	0.67725	0.953	T	0.66909	-0.5804	10	0.42905	T	0.14	.	11.5197	0.50543	0.3274:0.0:0.6726:0.0	.	112	Q9H5J0	ZBTB3_HUMAN	E	112;62	ENSP00000378286:D112E;ENSP00000432731:D62E	ENSP00000378286:D112E	D	-	3	2	ZBTB3	62277527	0.970000	0.33590	0.997000	0.53966	0.998000	0.95712	0.790000	0.26900	-0.165000	0.10908	0.454000	0.30748	GAT		0.547	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		16	71	0	0	0	0	16	71				
CDCA5	113130	broad.mit.edu	37	11	64846603	64846603	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:64846603C>G	ENST00000275517.3	-	6	907	c.735G>C	c.(733-735)gaG>gaC	p.E245D	CDCA5_ENST00000404147.3_Missense_Mutation_p.E300D	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	245					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GATCAAACTGCTCAGCAGCTT	0.552																																						uc001ocp.2		NA																	0					0						c.(733-735)GAG>GAC		cell division cycle associated 5							81.0	60.0	67.0					11																	64846603		2201	4297	6498	SO:0001583	missense	113130				cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding	g.chr11:64846603C>G	BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"""sororin"""	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.735G>C	11.37:g.64846603C>G	ENSP00000275517:p.Glu245Asp						p.E245D	NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN			6	900	-			245					A8K625	Missense_Mutation	SNP	ENST00000275517.3	37	c.735G>C	CCDS8091.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232050	0.58777	.	.	ENSG00000146670	ENST00000275517;ENST00000404147	T;T	0.59772	0.24;0.43	5.42	4.52	0.55395	.	0.240312	0.40144	N	0.001178	T	0.57873	0.2083	N	0.17082	0.46	0.29238	N	0.872844	D	0.76494	0.999	D	0.76071	0.987	T	0.55933	-0.8062	10	0.87932	D	0	.	8.3752	0.32438	0.0:0.8238:0.0:0.1762	.	245	Q96FF9	CDCA5_HUMAN	D	245;300	ENSP00000275517:E245D;ENSP00000385711:E300D	ENSP00000275517:E245D	E	-	3	2	CDCA5	64603179	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.610000	0.24253	1.295000	0.44724	0.650000	0.86243	GAG		0.552	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385186.1	NM_080668		4	34	0	0	0	0	4	34				
RSF1	51773	broad.mit.edu	37	11	77412091	77412091	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:77412091C>A	ENST00000308488.6	-	6	2485	c.2183G>T	c.(2182-2184)aGg>aTg	p.R728M	RSF1_ENST00000360355.2_Missense_Mutation_p.R697M|RSF1_ENST00000480887.1_Missense_Mutation_p.R476M			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	728					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTCTTTCTGCCTTTCAGAGGT	0.398																																						uc001oyn.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(2182-2184)AGG>ATG		remodeling and spacing factor 1							109.0	113.0	112.0					11																	77412091		2200	4292	6492	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77412091C>A	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.2183G>T	11.37:g.77412091C>A	ENSP00000311513:p.Arg728Met					RSF1_uc001oym.2_Missense_Mutation_p.R476M	p.R728M	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		6	2303	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		728					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.2183G>T	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151517	0.57151	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324	D;D;D;D	0.86956	-2.1;-2.12;-2.1;-2.19	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000006	D	0.89746	0.6804	L	0.32530	0.975	0.37286	D	0.908039	D	0.71674	0.998	P	0.61328	0.887	D	0.91731	0.5396	10	0.87932	D	0	-14.4064	19.57	0.95407	0.0:1.0:0.0:0.0	.	728	Q96T23	RSF1_HUMAN	M	728;476;697;529	ENSP00000311513:R728M;ENSP00000434509:R476M;ENSP00000353511:R697M;ENSP00000432022:R529M	ENSP00000311513:R728M	R	-	2	0	RSF1	77089739	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.699000	0.47077	2.726000	0.93360	0.655000	0.94253	AGG		0.398	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		27	157	1	0	7.08e-08	7.78e-08	27	157				
USP28	57646	broad.mit.edu	37	11	113670017	113670017	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:113670017C>A	ENST00000003302.4	-	25	3247	c.3179G>T	c.(3178-3180)cGa>cTa	p.R1060L	USP28_ENST00000545540.1_Missense_Mutation_p.R903L|USP28_ENST00000260188.5_Missense_Mutation_p.R1028L|USP28_ENST00000544967.1_Missense_Mutation_p.R736L	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	1060					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGCTGCAAATCGGCTACATAG	0.483																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.2		NA																	0				lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7						c.(3178-3180)CGA>CTA		ubiquitin specific protease 28							114.0	115.0	115.0					11																	113670017		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113670017C>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.3179G>T	11.37:g.113670017C>A	ENSP00000003302:p.Arg1060Leu					USP28_uc001pog.2_Missense_Mutation_p.R736L|USP28_uc010rwy.1_Missense_Mutation_p.R903L|USP28_uc001poi.2_Missense_Mutation_p.R383L	p.R1060L	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	25	3212	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	1060					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.3179G>T	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066322	0.93898	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	T;T;T;T	0.52754	1.22;1.24;0.65;1.25	5.71	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.66066	0.2752	M	0.65975	2.015	0.53005	D	0.999969	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.985;0.997;0.993	T	0.68538	-0.5382	10	0.87932	D	0	-11.7089	14.119	0.65175	0.0:0.9286:0.0:0.0714	.	903;1060;736	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	L	1060;1028;736;903	ENSP00000003302:R1060L;ENSP00000260188:R1028L;ENSP00000442431:R736L;ENSP00000444991:R903L	ENSP00000003302:R1060L	R	-	2	0	USP28	113175227	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	5.651000	0.67951	2.709000	0.92574	0.655000	0.94253	CGA		0.483	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			27	137	1	0	7.38e-10	8.24e-10	27	137				
RIMKLB	57494	broad.mit.edu	37	12	8926332	8926332	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:8926332C>G	ENST00000538135.1	+	6	1938	c.1113C>G	c.(1111-1113)ttC>ttG	p.F371L	RIMKLB_ENST00000535829.1_Missense_Mutation_p.F371L|A2ML1-AS1_ENST00000537288.1_RNA|RIMKLB_ENST00000299673.5_Intron|RIMKLB_ENST00000357529.3_Missense_Mutation_p.F371L			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	371					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GGGGCCTGTTCAACATGAACC	0.483																																						uc001quu.2		NA																	0					0						c.(1111-1113)TTC>TTG		ribosomal modification protein rimK-like family							78.0	77.0	77.0					12																	8926332		1888	4108	5996	SO:0001583	missense	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8926332C>G	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.1113C>G	12.37:g.8926332C>G	ENSP00000440943:p.Phe371Leu					RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Missense_Mutation_p.F371L|RIMKLB_uc010sgl.1_Missense_Mutation_p.F371L|RIMKLB_uc001quw.2_Intron	p.F371L	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN			6	1364	+			371					B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	c.1113C>G	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808575	0.50421	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.72	5.72	0.89469	.	0.065364	0.64402	U	0.000005	T	0.38108	0.1028	N	0.14661	0.345	0.49915	D	0.999835	B	0.21905	0.062	B	0.16722	0.016	T	0.24368	-1.0162	8	.	.	.	.	11.8477	0.52393	0.0:0.9199:0.0:0.0801	.	371	Q9ULI2	RIMKB_HUMAN	L	371	.	.	F	+	3	2	RIMKLB	8817599	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.437000	0.66544	2.689000	0.91719	0.591000	0.81541	TTC		0.483	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		18	128	0	0	0	0	18	128				
EPS8	2059	broad.mit.edu	37	12	15784565	15784565	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:15784565C>T	ENST00000281172.5	-	18	2291	c.1855G>A	c.(1855-1857)Gat>Aat	p.D619N	EPS8_ENST00000543612.1_Missense_Mutation_p.D619N|EPS8_ENST00000540613.1_Missense_Mutation_p.D359N|EPS8_ENST00000542903.1_Missense_Mutation_p.D359N|EPS8_ENST00000543523.1_Missense_Mutation_p.D619N	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	619	Pro-rich.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GGGGGAGTATCAGCTGGTCTT	0.438																																						uc009zif.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(1855-1857)GAT>AAT		epidermal growth factor receptor pathway							93.0	76.0	82.0					12																	15784565		2203	4300	6503	SO:0001583	missense	2059				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15784565C>T	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1855G>A	12.37:g.15784565C>T	ENSP00000281172:p.Asp619Asn					EPS8_uc001rdb.2_Missense_Mutation_p.D619N|EPS8_uc009zig.2_Missense_Mutation_p.D359N|EPS8_uc010shv.1_Missense_Mutation_p.D359N	p.D619N	NM_004447	NP_004438	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	18	1949	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	619			Pro-rich.		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	c.1855G>A	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719937	0.30503	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.06768	3.4;3.4;3.4;3.26;3.26	5.75	4.86	0.63082	.	0.481151	0.21963	N	0.066567	T	0.07908	0.0198	L	0.36672	1.1	0.29803	N	0.832275	B	0.06786	0.001	B	0.06405	0.002	T	0.13229	-1.0517	10	0.18710	T	0.47	-3.3633	13.3816	0.60770	0.0:0.9269:0.0:0.0731	.	619	Q12929	EPS8_HUMAN	N	619;619;619;359;359;619	ENSP00000441867:D619N;ENSP00000281172:D619N;ENSP00000442388:D619N;ENSP00000441888:D359N;ENSP00000437806:D359N	ENSP00000281172:D619N	D	-	1	0	EPS8	15675832	0.302000	0.24454	0.271000	0.24616	0.979000	0.70002	1.503000	0.35715	1.432000	0.47375	0.650000	0.86243	GAT		0.438	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			7	67	0	0	0	0	7	67				
STK38L	23012	broad.mit.edu	37	12	27461352	27461352	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:27461352C>G	ENST00000389032.3	+	4	436	c.267C>G	c.(265-267)gaC>gaG	p.D89E	STK38L_ENST00000539577.1_Intron	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					GCTTGGATGACTTTGAGTCTC	0.353																																						uc001rhr.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|kidney(1)	5						c.(265-267)GAC>GAG		serine/threonine kinase 38 like							96.0	102.0	100.0					12																	27461352		2203	4300	6503	SO:0001583	missense	23012				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr12:27461352C>G	AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.267C>G	12.37:g.27461352C>G	ENSP00000373684:p.Asp89Glu					STK38L_uc001rhs.2_RNA|STK38L_uc010sjm.1_Intron	p.D89E	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN			4	466	+	Colorectal(261;0.0847)		89						Missense_Mutation	SNP	ENST00000389032.3	37	c.267C>G	CCDS31761.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.385548	0.82792	.	.	ENSG00000211455	ENST00000541191;ENST00000389032;ENST00000540996;ENST00000543246;ENST00000544969	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	4.54	2.67	0.31697	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	M	0.76433	2.335	0.80722	D	1	B	0.31859	0.343	B	0.33620	0.167	T	0.55897	-0.8068	10	0.87932	D	0	.	11.09	0.48110	0.0:0.8357:0.0:0.1643	.	89	Q9Y2H1	ST38L_HUMAN	E	89	ENSP00000437856:D89E;ENSP00000373684:D89E;ENSP00000443838:D89E;ENSP00000442253:D89E;ENSP00000440279:D89E	ENSP00000373684:D89E	D	+	3	2	STK38L	27352619	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.892000	0.28322	1.056000	0.40484	0.460000	0.39030	GAC		0.353	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403297.1	NM_015000		33	133	0	0	0	0	33	133				
BICD1	636	broad.mit.edu	37	12	32369283	32369283	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:32369283C>G	ENST00000281474.5	+	2	419	c.316C>G	c.(316-318)Ctg>Gtg	p.L106V	BICD1_ENST00000548411.1_Missense_Mutation_p.L106V	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	106					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)	p.L106V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGCTTACTATCTGGGGAAGAT	0.542																																						uc001rku.2		NA																	1	Substitution - Missense(1)		breast(1)	large_intestine(1)|central_nervous_system(1)	2						c.(316-318)CTG>GTG		bicaudal D homolog 1 isoform 1							114.0	106.0	109.0					12																	32369283		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32369283C>G	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.316C>G	12.37:g.32369283C>G	ENSP00000281474:p.Leu106Val					BICD1_uc001rkv.2_Missense_Mutation_p.L106V|BICD1_uc010skd.1_RNA	p.L106V	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		2	397	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		106			Potential.		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.316C>G	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846616	0.32606	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.42131	0.98;0.98	5.55	5.55	0.83447	.	0.156867	0.42964	D	0.000639	T	0.32102	0.0818	N	0.08118	0	0.80722	D	1	B;P	0.44429	0.356;0.835	B;P	0.45071	0.164;0.468	T	0.11916	-1.0568	10	0.28530	T	0.3	.	19.5182	0.95174	0.0:1.0:0.0:0.0	.	106;106	F8W113;Q96G01	.;BICD1_HUMAN	V	106	ENSP00000446793:L106V;ENSP00000281474:L106V	ENSP00000281474:L106V	L	+	1	2	BICD1	32260550	0.671000	0.27521	0.998000	0.56505	0.989000	0.77384	1.263000	0.33004	2.603000	0.88011	0.655000	0.94253	CTG		0.542	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		14	69	0	0	0	0	14	69				
ASB8	140461	broad.mit.edu	37	12	48545077	48545077	+	Silent	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:48545077C>G	ENST00000317697.3	-	3	310	c.141G>C	c.(139-141)gtG>gtC	p.V47V	ASB8_ENST00000536953.1_Silent_p.V47V|ASB8_ENST00000536549.1_Silent_p.V47V|ASB8_ENST00000535055.1_Silent_p.V47V|ASB8_ENST00000537754.1_Intron|ASB8_ENST00000540782.1_Silent_p.V47V|ASB8_ENST00000535988.1_Silent_p.V47V|ASB8_ENST00000539528.1_Silent_p.V47V|ASB8_ENST00000536071.1_Silent_p.V47V	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	47					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						GAGTGCAGTTCACATCTGCTC	0.522																																						uc001rrh.2		NA																	0				kidney(1)	1						c.(139-141)GTG>GTC		ankyrin repeat and SOCS box-containing 8							111.0	92.0	98.0					12																	48545077		2203	4300	6503	SO:0001819	synonymous_variant	140461				intracellular signal transduction	cytoplasm|nucleus		g.chr12:48545077C>G	AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981		"""Ankyrin repeat domain containing"""	17183	protein-coding gene	gene with protein product		615053	"""ankyrin repeat and SOCS box-containing 8"""			12076535	Standard	NM_024095		Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.141G>C	12.37:g.48545077C>G						ASB8_uc010slr.1_Silent_p.V43V	p.V47V	NM_024095	NP_077000	Q9H765	ASB8_HUMAN			3	310	-			47					A8K1P2|Q547Q2	Silent	SNP	ENST00000317697.3	37	c.141G>C	CCDS8761.1																																																																																				0.522	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396497.1			12	46	0	0	0	0	12	46				
KRT74	121391	broad.mit.edu	37	12	52962128	52962128	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:52962128C>G	ENST00000305620.2	-	7	1227	c.1180G>C	c.(1180-1182)Gac>Cac	p.D394H	KRT74_ENST00000549343.1_Missense_Mutation_p.D408H	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	394	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		AGGGCATTGTCTCCCCGCTGC	0.597																																						uc001sap.1		NA																	0				ovary(1)|skin(1)	2						c.(1180-1182)GAC>CAC		keratin 6 irs4							60.0	54.0	56.0					12																	52962128		2203	4300	6503	SO:0001583	missense	121391					keratin filament	structural molecule activity	g.chr12:52962128C>G	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.1180G>C	12.37:g.52962128C>G	ENSP00000307240:p.Asp394His						p.D394H	NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	7	1228	-			394			Rod.|Coil 2.		B5MD61|Q86Y45	Missense_Mutation	SNP	ENST00000305620.2	37	c.1180G>C	CCDS8832.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.130247	0.56721	.	.	ENSG00000170484	ENST00000549343;ENST00000305620	D;D	0.88975	-2.45;-2.45	4.57	3.66	0.41972	Filament (1);	0.227351	0.22641	N	0.057454	D	0.89150	0.6633	L	0.56199	1.76	0.51012	D	0.9999	B	0.29671	0.254	B	0.41202	0.35	D	0.88639	0.3174	10	0.72032	D	0.01	.	13.6072	0.62054	0.0:0.9218:0.0:0.0782	.	394	Q7RTS7	K2C74_HUMAN	H	408;394	ENSP00000447447:D408H;ENSP00000307240:D394H	ENSP00000307240:D394H	D	-	1	0	KRT74	51248395	0.989000	0.36119	0.018000	0.16275	0.013000	0.08279	3.245000	0.51407	1.203000	0.43233	0.655000	0.94253	GAC		0.597	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		10	62	0	0	0	0	10	62				
R3HDM2	22864	broad.mit.edu	37	12	57660580	57660580	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:57660580C>G	ENST00000347140.3	-	19	2413	c.2023G>C	c.(2023-2025)Gag>Cag	p.E675Q	R3HDM2_ENST00000413953.2_Missense_Mutation_p.E402Q|R3HDM2_ENST00000546843.1_5'UTR|R3HDM2_ENST00000441731.2_Missense_Mutation_p.E370Q|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000358907.2_Missense_Mutation_p.E675Q|R3HDM2_ENST00000402412.1_Missense_Mutation_p.E689Q|R3HDM2_ENST00000403821.2_Missense_Mutation_p.E709Q			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	675	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGGTACTGCTCAGAGCCAGGG	0.552																																						uc009zpm.1		NA																	0				ovary(2)	2						c.(2023-2025)GAG>CAG		R3H domain containing 2							87.0	67.0	74.0					12																	57660580		2203	4300	6503	SO:0001583	missense	22864					nucleus	nucleic acid binding	g.chr12:57660580C>G	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.2023G>C	12.37:g.57660580C>G	ENSP00000317903:p.Glu675Gln					R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Missense_Mutation_p.E370Q|R3HDM2_uc001snr.2_Missense_Mutation_p.E402Q|R3HDM2_uc001sns.2_Missense_Mutation_p.E675Q|R3HDM2_uc001snt.2_Missense_Mutation_p.E689Q|R3HDM2_uc009zpn.1_Intron	p.E675Q	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN			17	2058	-			675			Gln-rich.		Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	ENST00000347140.3	37	c.2023G>C	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561169	0.86335	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821;ENST00000548161	T;T;T;T;T;T;T;T	0.56103	0.51;0.48;1.45;1.46;1.45;0.51;1.1;1.48	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.68311	0.2987	L	0.59436	1.845	0.54753	D	0.999985	D;D;D;D	0.69078	0.997;0.997;0.993;0.996	D;D;D;D	0.78314	0.986;0.986;0.979;0.991	T	0.64542	-0.6383	10	0.33141	T	0.24	-16.0588	17.3118	0.87212	0.0:1.0:0.0:0.0	.	709;689;675;402	B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;R3HD2_HUMAN;.	Q	402;402;675;689;675;370;440;709;64	ENSP00000409146:E402Q;ENSP00000377400:E402Q;ENSP00000317903:E675Q;ENSP00000385839:E689Q;ENSP00000351784:E675Q;ENSP00000408536:E370Q;ENSP00000394676:E440Q;ENSP00000385169:E709Q	ENSP00000317903:E675Q	E	-	1	0	R3HDM2	55946847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.128000	0.77217	2.696000	0.92011	0.650000	0.86243	GAG		0.552	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		8	42	0	0	0	0	8	42				
GNPTAB	79158	broad.mit.edu	37	12	102153834	102153834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:102153834G>A	ENST00000299314.7	-	16	3485	c.3223C>T	c.(3223-3225)Cag>Tag	p.Q1075*		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1075					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)	p.Q1075*(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TAGGATTCCTGAGTTGGTGGA	0.368																																						uc001tit.2		NA																	1	Substitution - Nonsense(1)	p.Q1075*(1)	ovary(1)	ovary(1)|skin(1)	2						c.(3223-3225)CAG>TAG		N-acetylglucosamine-1-phosphate transferase							204.0	187.0	192.0					12																	102153834		2203	4300	6503	SO:0001587	stop_gained	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102153834G>A	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.3223C>T	12.37:g.102153834G>A	ENSP00000299314:p.Gln1075*						p.Q1075*	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN			16	3402	-			1075					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Nonsense_Mutation	SNP	ENST00000299314.7	37	c.3223C>T	CCDS9088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.16|18.16	3.563092|3.563092	0.65538|0.65538	.|.	.|.	ENSG00000111670|ENSG00000111670	ENST00000299314|ENST00000550718	.|.	.|.	.|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.059158|.	0.64402|.	D|.	0.000001|.	.|T	.|0.76615	.|0.4012	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74417	.|-0.3672	.|4	0.30854|.	T|.	0.27|.	-18.1127|-18.1127	19.8677|19.8677	0.96824|0.96824	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	1075|12	.|.	ENSP00000299314:Q1075X|.	Q|S	-|-	1|2	0|0	GNPTAB|GNPTAB	100677965|100677965	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.091000|0.091000	0.18340|0.18340	9.444000|9.444000	0.97578|0.97578	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.368	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			13	89	0	0	0	0	13	89				
PDS5B	23047	broad.mit.edu	37	13	33344579	33344579	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr13:33344579C>G	ENST00000315596.10	+	32	4131	c.3945C>G	c.(3943-3945)agC>agG	p.S1315R		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	1315					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAAAAGGAAGCAAAAAAAAAT	0.438																																						uc010abf.2		NA																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(3943-3945)AGC>AGG		PDS5, regulator of cohesion maintenance, homolog							37.0	36.0	36.0					13																	33344579		1832	4098	5930	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33344579C>G	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.3945C>G	13.37:g.33344579C>G	ENSP00000313851:p.Ser1315Arg					PDS5B_uc010abg.2_RNA	p.S1315R	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	32	4103	+		Lung SC(185;0.0367)	1315					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.3945C>G	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	C	1.784	-0.481158	0.04383	.	.	ENSG00000083642	ENST00000315596;ENST00000447833	.	.	.	5.98	4.25	0.50352	.	0.341561	0.36134	N	0.002764	T	0.10766	0.0263	N	0.01874	-0.695	0.23936	N	0.996411	B	0.02656	0.0	B	0.01281	0.0	T	0.33979	-0.9847	9	0.02654	T	1	-19.2975	6.2132	0.20642	0.0:0.6531:0.1388:0.2081	.	1315	Q9NTI5	PDS5B_HUMAN	R	1315;267	.	ENSP00000313851:S1315R	S	+	3	2	PDS5B	32242579	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.806000	0.38892	1.546000	0.49388	0.591000	0.81541	AGC		0.438	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		4	34	0	0	0	0	4	34				
FAM124A	220108	broad.mit.edu	37	13	51854623	51854623	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr13:51854623G>C	ENST00000322475.8	+	4	1007	c.872G>C	c.(871-873)aGa>aCa	p.R291T	FAM124A_ENST00000280057.6_Missense_Mutation_p.R327T	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	291										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		AAACCTGGCAGAGTACATCAT	0.517																																						uc001vfg.1		NA																	0				central_nervous_system(1)	1						c.(871-873)AGA>ACA		hypothetical protein LOC220108							97.0	85.0	89.0					13																	51854623		2203	4300	6503	SO:0001583	missense	220108							g.chr13:51854623G>C	AK096364	CCDS9427.1, CCDS55900.1	13q14.3	2006-08-11			ENSG00000150510	ENSG00000150510			26413	protein-coding gene	gene with protein product						12975309	Standard	NM_145019		Approved	FLJ30707	uc001vff.2	Q86V42	OTTHUMG00000016942	ENST00000322475.8:c.872G>C	13.37:g.51854623G>C	ENSP00000324625:p.Arg291Thr					FAM124A_uc001vff.1_Missense_Mutation_p.R327T	p.R291T	NM_145019	NP_659456	Q86V42	F124A_HUMAN		GBM - Glioblastoma multiforme(99;4.25e-07)	4	1003	+		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)	291					A2A324|Q8N8P9|Q8NE66|Q96NJ9	Missense_Mutation	SNP	ENST00000322475.8	37	c.872G>C	CCDS55900.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.682872	0.29872	.	.	ENSG00000150510	ENST00000322475;ENST00000280057	T;T	0.46451	0.87;0.87	5.12	4.14	0.48551	.	0.384285	0.23081	N	0.052141	T	0.40094	0.1103	L	0.54323	1.7	0.09310	N	1	P;P	0.51933	0.949;0.936	B;P	0.50934	0.415;0.654	T	0.32929	-0.9888	10	0.25751	T	0.34	-26.6447	3.2465	0.06799	0.1851:0.289:0.5259:0.0	.	291;327	Q86V42;Q86V42-2	F124A_HUMAN;.	T	291;327	ENSP00000324625:R291T;ENSP00000280057:R327T	ENSP00000280057:R327T	R	+	2	0	FAM124A	50752624	0.994000	0.37717	0.010000	0.14722	0.006000	0.05464	2.045000	0.41250	2.371000	0.80710	0.655000	0.94253	AGA		0.517	FAM124A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045019.3	NM_145019		8	46	0	0	0	0	8	46				
BORA	79866	broad.mit.edu	37	13	73327930	73327930	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr13:73327930G>A	ENST00000390667.5	+	11	1682	c.1585G>A	c.(1585-1587)Gag>Aag	p.E529K	BORA_ENST00000377815.3_Missense_Mutation_p.E459K	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	529					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										ATGTGAAGTTGAGAGTAAATC	0.313																																						uc001viv.1		NA																	0					0						c.(1585-1587)GAG>AAG		aurora borealis							85.0	84.0	84.0					13																	73327930		1828	4086	5914	SO:0001583	missense	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73327930G>A	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.1585G>A	13.37:g.73327930G>A	ENSP00000375082:p.Glu529Lys					C13orf34_uc010aen.1_Missense_Mutation_p.E604K|C13orf34_uc010thr.1_Missense_Mutation_p.E459K|C13orf34_uc001viw.1_Missense_Mutation_p.E478K	p.E529K	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN		GBM - Glioblastoma multiforme(99;0.000227)	11	1704	+		Breast(118;0.0735)	529					B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	ENST00000390667.5	37	c.1585G>A	CCDS9446.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.591180	0.46214	.	.	ENSG00000136122	ENST00000377815;ENST00000390667	T;T	0.45668	0.89;0.89	5.51	2.56	0.30785	.	0.215876	0.47852	N	0.000219	T	0.35566	0.0936	L	0.51422	1.61	0.32931	D	0.517186	P;B;B;B	0.37207	0.587;0.4;0.4;0.4	B;B;B;B	0.36464	0.225;0.173;0.173;0.173	T	0.52328	-0.8590	10	0.62326	D	0.03	-7.1866	9.9643	0.41715	0.0866:0.5238:0.3895:0.0	.	459;529;589;529	B4DQ30;A8K631;B5LMG6;Q6PGQ7	.;.;.;BORA_HUMAN	K	459;529	ENSP00000367046:E459K;ENSP00000375082:E529K	ENSP00000367046:E459K	E	+	1	0	BORA	72225931	0.991000	0.36638	0.037000	0.18230	0.008000	0.06430	2.478000	0.45189	0.780000	0.33566	0.655000	0.94253	GAG		0.313	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808		6	70	0	0	0	0	6	70				
ING1	3621	broad.mit.edu	37	13	111372242	111372242	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr13:111372242T>G	ENST00000375774.3	+	2	1694	c.1232T>G	c.(1231-1233)cTg>cGg	p.L411R	ING1_ENST00000333219.7_Missense_Mutation_p.L268R|ING1_ENST00000338450.7_Missense_Mutation_p.L224R|ING1_ENST00000375775.3_Missense_Mutation_p.L199R	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	411	PBR. {ECO:0000250}.				cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GACAAAGCCCTGGAGAAATCC	0.507																																						uc001vri.2		NA																	0				ovary(1)	1						c.(1231-1233)CTG>CGG		inhibitor of growth family, member 1 isoform D							28.0	27.0	27.0					13																	111372242		2203	4300	6503	SO:0001583	missense	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111372242T>G		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.1232T>G	13.37:g.111372242T>G	ENSP00000364929:p.Leu411Arg					ING1_uc001vrf.2_Missense_Mutation_p.L224R|ING1_uc001vrg.2_Missense_Mutation_p.L199R|ING1_uc001vrh.2_Missense_Mutation_p.L268R	p.L411R	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		2	1664	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		411					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	c.1232T>G	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.541429	0.45280	.	.	ENSG00000153487	ENST00000338450;ENST00000333219;ENST00000375775;ENST00000375774	T	0.46819	0.86	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	T	0.58963	0.2159	L	0.43152	1.355	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.91635	0.999;0.991;0.996	T	0.52449	-0.8574	10	0.13853	T	0.58	-30.192	15.7624	0.78096	0.0:0.0:0.0:1.0	.	411;268;224	Q9UK53;Q5T9H0;Q9UK53-4	ING1_HUMAN;.;.	R	224;268;199;411	ENSP00000364929:L411R	ENSP00000328436:L268R	L	+	2	0	ING1	110170243	1.000000	0.71417	0.967000	0.41034	0.978000	0.69477	7.497000	0.81536	2.127000	0.65507	0.459000	0.35465	CTG		0.507	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		8	26	0	0	0	0	8	26				
ATP11A	23250	broad.mit.edu	37	13	113478732	113478732	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr13:113478732G>A	ENST00000487903.1	+	10	953	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	ATP11A_ENST00000283558.8_Missense_Mutation_p.V289M|ATP11A_ENST00000375630.2_Missense_Mutation_p.V289M|ATP11A_ENST00000375645.3_Missense_Mutation_p.V289M			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	289					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GCGATCTGCCGTGGAAAAGTA	0.443																																						uc001vsi.3		NA																	0				large_intestine(2)|ovary(2)	4						c.(865-867)GTG>ATG		ATPase, class VI, type 11A isoform a							89.0	88.0	88.0					13																	113478732		2203	4300	6503	SO:0001583	missense	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113478732G>A	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.865G>A	13.37:g.113478732G>A	ENSP00000420387:p.Val289Met					ATP11A_uc001vsj.3_Missense_Mutation_p.V289M|ATP11A_uc001vsm.1_Missense_Mutation_p.V165M	p.V289M	NM_015205	NP_056020	P98196	AT11A_HUMAN			10	953	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	289			Cytoplasmic (Potential).		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	c.865G>A	CCDS32011.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.776760	0.70107	.	.	ENSG00000068650	ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	4.77	4.77	0.60923	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.95127	0.8421	M	0.74467	2.265	0.80722	D	1	D;D;P	0.89917	1.0;0.978;0.781	D;P;P	0.87578	0.998;0.832;0.782	D	0.95720	0.8765	10	0.87932	D	0	.	18.1714	0.89746	0.0:0.0:1.0:0.0	.	289;289;289	E9PCW5;E9PEJ6;P98196	.;.;AT11A_HUMAN	M	289	ENSP00000420387:V289M;ENSP00000364781:V289M;ENSP00000364796:V289M;ENSP00000283558:V289M	ENSP00000283558:V289M	V	+	1	0	ATP11A	112526733	1.000000	0.71417	0.994000	0.49952	0.228000	0.25075	9.389000	0.97243	2.349000	0.79799	0.455000	0.32223	GTG		0.443	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3	NM_015205		13	85	0	0	0	0	13	85				
MMP14	4323	broad.mit.edu	37	14	23313957	23313957	+	Silent	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr14:23313957C>T	ENST00000311852.6	+	8	1530	c.1269C>T	c.(1267-1269)ccC>ccT	p.P423P	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	423					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.W421_G425>*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	TCTGGATGCCCAATGGAAAGA	0.547																																						uc001whc.2		NA																	1	Complex - deletion inframe(1)		prostate(1)		0						c.(1267-1269)CCC>CCT		matrix metalloproteinase 14 preproprotein							122.0	126.0	124.0					14																	23313957		2203	4300	6503	SO:0001819	synonymous_variant	4323					extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr14:23313957C>T		CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.1269C>T	14.37:g.23313957C>T							p.P423P	NM_004995	NP_004986	P50281	MMP14_HUMAN		GBM - Glioblastoma multiforme(265;0.00551)	8	1503	+	all_cancers(95;9.47e-05)		423			Hemopexin-like 3.|Extracellular (Potential).		A8K5L0|Q6GSF3|Q92678	Silent	SNP	ENST00000311852.6	37	c.1269C>T	CCDS9577.1																																																																																				0.547	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3	NM_004995		18	137	0	0	0	0	18	137				
DAAM1	23002	broad.mit.edu	37	14	59820601	59820601	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr14:59820601C>T	ENST00000395125.1	+	19	2328	c.2305C>T	c.(2305-2307)Cac>Tac	p.H769Y	DAAM1_ENST00000351081.1_Missense_Mutation_p.H769Y|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.H759Y	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	769	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAGAATTAATCACTATCAGCA	0.378																																						uc001xdz.1		NA																	0				ovary(1)	1						c.(2305-2307)CAC>TAC		dishevelled-associated activator of							80.0	74.0	76.0					14																	59820601		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59820601C>T	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2305C>T	14.37:g.59820601C>T	ENSP00000378557:p.His769Tyr					DAAM1_uc001xea.1_Missense_Mutation_p.H759Y|DAAM1_uc001xec.1_5'Flank	p.H769Y	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	20	2430	+			769			FH2.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.2305C>T	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	c	29.5	5.007725	0.93287	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000358498;ENST00000395125	T;T;T	0.16324	2.35;2.35;2.35	6.14	6.14	0.99180	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.44705	0.1306	M	0.84433	2.695	0.80722	D	1	P;P	0.51240	0.923;0.943	B;P	0.55391	0.441;0.775	T	0.31724	-0.9933	10	0.54805	T	0.06	.	20.8449	0.99727	0.0:1.0:0.0:0.0	.	759;769	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	Y	759;769;769;769	ENSP00000354162:H759Y;ENSP00000247170:H769Y;ENSP00000378557:H769Y	ENSP00000247170:H769Y	H	+	1	0	DAAM1	58890354	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.084000	0.71335	2.933000	0.99390	0.645000	0.84053	CAC		0.378	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		3	25	0	0	0	0	3	25				
RPS6KL1	83694	broad.mit.edu	37	14	75376489	75376489	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr14:75376489G>A	ENST00000555647.1	-	8	1314	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.R343W|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.R312W|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.R343W|RPS6KL1_ENST00000554900.1_5'Flank			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	343	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GTGAGCCCCCGAGGGGGCCCA	0.697																																						uc010tux.1		NA																	0				ovary(1)|stomach(1)|central_nervous_system(1)	3						c.(1027-1029)CGG>TGG		ribosomal protein S6 kinase-like 1							10.0	13.0	12.0					14																	75376489		2179	4277	6456	SO:0001583	missense	83694					ribosome	ATP binding|protein serine/threonine kinase activity	g.chr14:75376489G>A	BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.1027C>T	14.37:g.75376489G>A	ENSP00000452027:p.Arg343Trp					RPS6KL1_uc001xqx.1_Missense_Mutation_p.R95W|RPS6KL1_uc001xqw.2_Missense_Mutation_p.R312W|RPS6KL1_uc010asd.1_RNA	p.R343W	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00658)	7	1555	-			343			Protein kinase.		A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	ENST00000555647.1	37	c.1027C>T	CCDS9834.2	.	.	.	.	.	.	.	.	.	.	G	6.311	0.425443	0.11987	.	.	ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000557413;ENST00000358328	T;T;T;T	0.59772	0.29;0.24;0.29;0.29	5.17	-2.51	0.06365	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.931450	0.01737	N	0.029189	T	0.25232	0.0613	N	0.00677	-1.265	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.22765	-1.0207	10	0.41790	T	0.15	0.1802	6.1349	0.20225	0.6308:0.1645:0.2046:0.0	.	343;343;312	Q9Y6S9;B4DSP6;Q9Y6S9-2	RPKL1_HUMAN;.;.	W	343;312;343;343	ENSP00000452027:R343W;ENSP00000346644:R312W;ENSP00000450567:R343W;ENSP00000351086:R343W	ENSP00000346644:R312W	R	-	1	2	RPS6KL1	74446242	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.133000	0.10451	-0.127000	0.11661	-0.367000	0.07326	CGG		0.697	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413732.1			7	36	0	0	0	0	7	36				
RPS6KA5	9252	broad.mit.edu	37	14	91389537	91389537	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr14:91389537C>G	ENST00000261991.3	-	6	795	c.622G>C	c.(622-624)Gaa>Caa	p.E208Q	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.E129Q|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.E208Q	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	208	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TATGCTCTTTCAGTCTTGAAC	0.353																																						uc001xys.2		NA																	0				ovary(1)	1						c.(622-624)GAA>CAA		ribosomal protein S6 kinase, polypeptide 5							112.0	98.0	103.0					14																	91389537		2203	4300	6503	SO:0001583	missense	9252				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr14:91389537C>G	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.622G>C	14.37:g.91389537C>G	ENSP00000261991:p.Glu208Gln					RPS6KA5_uc010twi.1_Missense_Mutation_p.E129Q|RPS6KA5_uc001xyt.2_Missense_Mutation_p.E208Q|RPS6KA5_uc010att.1_RNA	p.E208Q	NM_004755	NP_004746	O75582	KS6A5_HUMAN		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)	6	837	-		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)	208			Protein kinase 1.		O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	c.622G>C	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479807	0.44044	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.66995	-0.24;-0.24;-0.24	5.66	5.66	0.87406	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048765	0.85682	D	0.000000	T	0.50497	0.1619	N	0.16790	0.44	0.80722	D	1	B;B	0.25563	0.129;0.034	B;B	0.19148	0.024;0.008	T	0.48948	-0.8989	10	0.44086	T	0.13	.	13.9724	0.64250	0.0:0.9278:0.0:0.0722	.	208;208	O75582-2;O75582	.;KS6A5_HUMAN	Q	208;129;208	ENSP00000261991:E208Q;ENSP00000442803:E129Q;ENSP00000402787:E208Q	ENSP00000261991:E208Q	E	-	1	0	RPS6KA5	90459290	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.399000	0.66314	2.656000	0.90262	0.655000	0.94253	GAA		0.353	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755		6	37	0	0	0	0	6	37				
BEGAIN	57596	broad.mit.edu	37	14	101012923	101012923	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr14:101012923C>T	ENST00000355173.2	-	3	162	c.91G>A	c.(91-93)Gag>Aag	p.E31K	BEGAIN_ENST00000443071.2_Missense_Mutation_p.E31K|BEGAIN_ENST00000554747.1_5'UTR|BEGAIN_ENST00000556751.1_5'UTR	NM_020836.3	NP_065887.1	Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	31						cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GAGTCGAACTCGGTCTCGAGC	0.677																																					NSCLC(159;1889 2010 9965 27479 40101)	uc010txa.1		NA																	0					0						c.(91-93)GAG>AAG		brain-enriched guanylate kinase-associated							82.0	75.0	77.0					14																	101012923		2203	4300	6503	SO:0001583	missense	57596					cytoplasm|membrane	protein binding	g.chr14:101012923C>T	BC002607	CCDS9962.1	14q32.2	2012-12-07	2012-12-07			ENSG00000183092			24163	protein-coding gene	gene with protein product			"""brain-enriched guanylate kinase-associated homolog (rat)"""			10819331	Standard	NM_020836		Approved	KIAA1446	uc010txa.2	Q9BUH8		ENST00000355173.2:c.91G>A	14.37:g.101012923C>T	ENSP00000347301:p.Glu31Lys					BEGAIN_uc001yhp.2_5'UTR|BEGAIN_uc001yhq.2_Missense_Mutation_p.E31K	p.E31K	NM_001159531	NP_001153003	Q9BUH8	BEGIN_HUMAN			2	237	-		Melanoma(154;0.212)	31					Q9NPU3|Q9P282	Missense_Mutation	SNP	ENST00000355173.2	37	c.91G>A	CCDS9962.1	.	.	.	.	.	.	.	.	.	.	c	36	5.912851	0.97099	.	.	ENSG00000183092	ENST00000355173;ENST00000443071;ENST00000553553;ENST00000556188;ENST00000557378;ENST00000554140	T;T;T;T;T;T	0.77750	1.81;1.81;-1.12;-1.12;-1.12;-1.12	4.59	4.59	0.56863	.	0.000000	0.85682	U	0.000000	D	0.86940	0.6054	M	0.76574	2.34	0.58432	D	0.999999	D	0.76494	0.999	D	0.76575	0.988	D	0.87909	0.2696	10	0.52906	T	0.07	.	14.9651	0.71184	0.0:1.0:0.0:0.0	.	31	Q9BUH8	BEGIN_HUMAN	K	31;31;43;31;31;50	ENSP00000347301:E31K;ENSP00000411124:E31K;ENSP00000451397:E43K;ENSP00000452157:E31K;ENSP00000450722:E31K;ENSP00000451125:E50K	ENSP00000347301:E31K	E	-	1	0	BEGAIN	100082676	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.934000	0.75880	2.105000	0.64084	0.473000	0.43528	GAG		0.677	BEGAIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414329.1	NM_020836		9	51	0	0	0	0	9	51				
DISP2	85455	broad.mit.edu	37	15	40661167	40661167	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:40661167G>A	ENST00000267889.3	+	8	2941	c.2854G>A	c.(2854-2856)Gag>Aag	p.E952K	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	952					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TAGCCGTCTAGAGCTGTATAG	0.632																																						uc001zlk.1		NA																	0				ovary(2)	2						c.(2854-2856)GAG>AAG		dispatched B							85.0	84.0	84.0					15																	40661167		2203	4300	6503	SO:0001583	missense	85455				smoothened signaling pathway	integral to membrane		g.chr15:40661167G>A	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2854G>A	15.37:g.40661167G>A	ENSP00000267889:p.Glu952Lys						p.E952K	NM_033510	NP_277045	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	2943	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	952					Q6AHW3|Q9C0C1	Missense_Mutation	SNP	ENST00000267889.3	37	c.2854G>A	CCDS10056.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.836673	0.32421	.	.	ENSG00000140323	ENST00000267889	T	0.12672	2.66	5.09	4.18	0.49190	.	0.793281	0.12239	N	0.486705	T	0.12050	0.0293	L	0.41356	1.27	0.09310	N	1	B	0.26547	0.152	B	0.28011	0.085	T	0.28554	-1.0040	10	0.23302	T	0.38	-12.8179	8.5254	0.33302	0.0765:0.0:0.7713:0.1522	.	952	A7MBM2	DISP2_HUMAN	K	952	ENSP00000267889:E952K	ENSP00000267889:E952K	E	+	1	0	DISP2	38448459	1.000000	0.71417	0.870000	0.34147	0.980000	0.70556	2.749000	0.47492	1.390000	0.46547	0.555000	0.69702	GAG		0.632	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		19	103	0	0	0	0	19	103				
SPINT1	6692	broad.mit.edu	37	15	41145359	41145359	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:41145359G>C	ENST00000344051.4	+	3	747	c.513G>C	c.(511-513)ttG>ttC	p.L171F	SPINT1_ENST00000562057.1_Missense_Mutation_p.L171F|SPINT1_ENST00000431806.1_Missense_Mutation_p.L171F			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	171					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GCATAGACTTGAAGGTACAAC	0.557																																						uc001zna.2		NA																	0				ovary(1)	1						c.(511-513)TTG>TTC		serine peptidase inhibitor, Kunitz type 1							160.0	154.0	156.0					15																	41145359		2203	4300	6503	SO:0001583	missense	6692					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity	g.chr15:41145359G>C		CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.513G>C	15.37:g.41145359G>C	ENSP00000342098:p.Leu171Phe					SPINT1_uc001znb.2_Missense_Mutation_p.L171F|SPINT1_uc001znc.2_Missense_Mutation_p.L171F|SPINT1_uc010ucs.1_Missense_Mutation_p.L171F	p.L171F	NM_181642	NP_857593	O43278	SPIT1_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	3	717	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	171					Q7Z7D2	Missense_Mutation	SNP	ENST00000344051.4	37	c.513G>C	CCDS10067.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247077	0.39697	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.95821	-3.82;-3.82	5.15	2.23	0.28157	.	0.512594	0.19900	N	0.103530	D	0.95519	0.8544	M	0.74258	2.255	0.32160	N	0.583093	P;P;D	0.53619	0.933;0.946;0.961	P;P;P	0.52758	0.518;0.595;0.708	D	0.94081	0.7344	10	0.46703	T	0.11	-15.1934	9.077	0.36527	0.2383:0.0:0.7617:0.0	.	171;171;171	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	F	171;138;171	ENSP00000342098:L171F;ENSP00000409935:L171F	ENSP00000342098:L171F	L	+	3	2	SPINT1	38932651	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	0.977000	0.29475	0.563000	0.29222	-0.254000	0.11334	TTG		0.557	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252359.2	NM_003710		25	150	0	0	0	0	25	150				
UBR1	197131	broad.mit.edu	37	15	43351984	43351984	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:43351984C>G	ENST00000290650.4	-	8	979	c.901G>C	c.(901-903)Gaa>Caa	p.E301Q	UBR1_ENST00000382177.2_Missense_Mutation_p.E301Q	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	301					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGTAATACTTCTACATGAAGT	0.353																																						uc001zqq.2		NA																	0				lung(1)	1						c.(901-903)GAA>CAA		ubiquitin protein ligase E3 component n-recognin							73.0	72.0	72.0					15																	43351984		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43351984C>G		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.901G>C	15.37:g.43351984C>G	ENSP00000290650:p.Glu301Gln					UBR1_uc010udk.1_Missense_Mutation_p.E301Q	p.E301Q	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	8	967	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	301					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.901G>C	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	6.680	0.493963	0.12702	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.71222	0.3;-0.55	5.27	5.27	0.74061	Adaptor protein ClpS, core (1);Ribosomal protein L7/L12, C-terminal/adaptor protein ClpS-like (2);	0.000000	0.85682	D	0.000000	T	0.72684	0.3491	L	0.39898	1.24	0.54753	D	0.999989	B;D	0.63880	0.201;0.993	B;P	0.60789	0.199;0.879	T	0.65504	-0.6152	10	0.13853	T	0.58	-21.1488	13.3663	0.60687	0.0:0.9249:0.0:0.0751	.	301;301	B4DYL2;Q8IWV7	.;UBR1_HUMAN	Q	301	ENSP00000290650:E301Q;ENSP00000371612:E301Q	ENSP00000290650:E301Q	E	-	1	0	UBR1	41139276	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	5.617000	0.67716	2.746000	0.94184	0.561000	0.74099	GAA		0.353	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		8	49	0	0	0	0	8	49				
LCMT2	9836	broad.mit.edu	37	15	43622444	43622444	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:43622444G>A	ENST00000305641.5	-	1	359	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	ADAL_ENST00000428046.3_5'Flank|LCMT2_ENST00000544735.1_Intron|ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000567039.1_Intron	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	82					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	ATCTGCGCGCGAAGCGCGGCC	0.652																																						uc001zrg.2		NA																	0					0						c.(244-246)CGC>TGC		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						15.0	20.0	19.0					15																	43622444		2094	4161	6255	SO:0001583	missense	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43622444G>A	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.244C>T	15.37:g.43622444G>A	ENSP00000307214:p.Arg82Cys					LCMT2_uc010udn.1_Intron|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	p.R82C	NM_014793	NP_055608	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	448	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	82					Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	c.244C>T	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.486192	0.26686	.	.	ENSG00000168806	ENST00000305641	T	0.27720	1.65	5.28	-0.546	0.11840	.	0.205916	0.34628	N	0.003814	T	0.31857	0.0810	L	0.39514	1.22	0.18873	N	0.999985	D	0.71674	0.998	P	0.54815	0.761	T	0.16958	-1.0385	10	0.56958	D	0.05	-13.6845	8.5491	0.33440	0.0:0.3829:0.335:0.2821	.	82	O60294	LCMT2_HUMAN	C	82	ENSP00000307214:R82C	ENSP00000307214:R82C	R	-	1	0	LCMT2	41409736	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.382000	0.20635	0.040000	0.15660	-0.169000	0.13324	CGC		0.652	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		5	48	0	0	0	0	5	48				
MAP1A	4130	broad.mit.edu	37	15	43814803	43814803	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:43814803G>A	ENST00000300231.5	+	4	1582	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	MAP1A_ENST00000382031.1_Missense_Mutation_p.E616K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E378K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	378	Lys-rich (basic).				microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGCCAAGCCTGAGAGGGTGAA	0.493																																						uc001zrt.2		NA																	0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(1132-1134)GAG>AAG		microtubule-associated protein 1A	Estramustine(DB01196)						27.0	31.0	30.0					15																	43814803		2009	4168	6177	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43814803G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1132G>A	15.37:g.43814803G>A	ENSP00000300231:p.Glu378Lys						p.E378K	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	1599	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	378			Lys-rich (basic).		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.1132G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860529	0.32884	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231;ENST00000442025	T;T;T	0.03242	4.0;4.0;4.0	5.2	5.2	0.72013	.	0.000000	0.34338	N	0.004046	T	0.11495	0.0280	L	0.41027	1.25	0.53005	D	0.999962	D	0.59767	0.986	P	0.60886	0.88	T	0.01390	-1.1367	10	0.54805	T	0.06	-19.6405	18.9373	0.92590	0.0:0.0:1.0:0.0	.	378	P78559	MAP1A_HUMAN	K	616;378;378;378	ENSP00000371462:E616K;ENSP00000382380:E378K;ENSP00000300231:E378K	ENSP00000300231:E378K	E	+	1	0	MAP1A	41602095	1.000000	0.71417	0.993000	0.49108	0.995000	0.86356	6.816000	0.75247	2.722000	0.93159	0.655000	0.94253	GAG		0.493	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		4	29	0	0	0	0	4	29				
SLC12A1	6557	broad.mit.edu	37	15	48500096	48500096	+	Silent	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:48500096C>T	ENST00000558405.1	+	1	194	c.180C>T	c.(178-180)atC>atT	p.I60I	SLC12A1_ENST00000380993.3_Silent_p.I60I|SLC12A1_ENST00000330289.6_Silent_p.I60I|SLC12A1_ENST00000396577.3_Silent_p.I60I|SLC12A1_ENST00000561031.1_Silent_p.I60I			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	60					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GACTCAGAATCAGCTTTAGGC	0.438																																						uc001zwn.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(178-180)ATC>ATT		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						91.0	88.0	89.0					15																	48500096		2198	4297	6495	SO:0001819	synonymous_variant	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48500096C>T		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.180C>T	15.37:g.48500096C>T						SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.2_Silent_p.I60I|SLC12A1_uc010uex.1_Silent_p.I60I	p.I60I	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	2	396	+		all_lung(180;0.00219)	60			Cytoplasmic (Potential).		A8JYA2|E9PDW4	Silent	SNP	ENST00000558405.1	37	c.180C>T	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	9.048	0.991405	0.18966	.	.	ENSG00000074803	ENST00000546071	.	.	.	5.05	3.13	0.36017	.	.	.	.	.	T	0.58864	0.2152	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56956	-0.7893	5	0.54805	T	0.06	.	5.4211	0.16400	0.1477:0.6344:0.1425:0.0753	.	.	.	.	L	34	.	ENSP00000441148:S34L	S	+	2	0	SLC12A1	46287388	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.114000	0.31196	0.681000	0.31386	0.655000	0.94253	TCA		0.438	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			9	62	0	0	0	0	9	62				
SLC27A2	11001	broad.mit.edu	37	15	50519205	50519205	+	Silent	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:50519205C>T	ENST00000267842.5	+	7	1519	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	SLC27A2_ENST00000544960.1_Silent_p.I194I|SLC27A2_ENST00000380902.4_Silent_p.I376I	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	429					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TTTGCAAAATCACACAACTTA	0.358																																						uc001zxw.2		NA																	0				ovary(1)|skin(1)	2						c.(1285-1287)ATC>ATT		solute carrier family 27 (fatty acid							68.0	66.0	66.0					15																	50519205		2196	4295	6491	SO:0001819	synonymous_variant	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50519205C>T	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.1287C>T	15.37:g.50519205C>T						SLC27A2_uc010bes.2_Silent_p.I376I|SLC27A2_uc001zxx.2_Silent_p.I194I	p.I429I	NM_003645	NP_003636	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	7	1519	+		all_lung(180;0.00177)	429			Cytoplasmic (Potential).		A8K2J7|Q53FY6|Q6PF09	Silent	SNP	ENST00000267842.5	37	c.1287C>T	CCDS10133.1																																																																																				0.358	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		5	43	0	0	0	0	5	43				
CPEB1	64506	broad.mit.edu	37	15	83215266	83215266	+	Missense_Mutation	SNP	C	C	G	rs370005577		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:83215266C>G	ENST00000562019.1	-	11	1831	c.1515G>C	c.(1513-1515)caG>caC	p.Q505H	CPEB1_ENST00000564522.1_Missense_Mutation_p.Q425H|CPEB1_ENST00000450751.2_Missense_Mutation_p.Q425H|CPEB1_ENST00000423133.2_Missense_Mutation_p.Q425H|CPEB1_ENST00000261723.6_Missense_Mutation_p.Q503H|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.R235T|CPEB1_ENST00000568128.1_Missense_Mutation_p.Q500H|CPEB1_ENST00000563800.1_Missense_Mutation_p.Q527H|CPEB1_ENST00000398591.2_Missense_Mutation_p.Q430H|CPEB1_ENST00000568757.1_Missense_Mutation_p.Q425H|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000398592.2_Missense_Mutation_p.Q274H			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	505	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			AGGGGTCAATCTGAACCTGCA	0.483																																						uc002bit.2		NA																	0				ovary(1)|breast(1)	2						c.(1693-1695)CAG>CAC		cytoplasmic polyadenylation element binding							67.0	69.0	69.0					15																	83215266		1938	4141	6079	SO:0001583	missense	64506				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	g.chr15:83215266C>G	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1515G>C	15.37:g.83215266C>G	ENSP00000457836:p.Gln505His					CPEB1_uc002biq.2_Missense_Mutation_p.Q425H|CPEB1_uc002bir.2_Missense_Mutation_p.Q430H|CPEB1_uc002bis.2_Missense_Mutation_p.Q425H|CPEB1_uc010uod.1_Missense_Mutation_p.Q274H|CPEB1_uc010uoe.1_Missense_Mutation_p.Q503H|CPEB1_uc002biu.2_Missense_Mutation_p.Q527H|CPEB1_uc010uof.1_Missense_Mutation_p.Q425H|CPEB1_uc002biv.2_Missense_Mutation_p.Q500H|CPEB1_uc002bip.2_Missense_Mutation_p.Q274H	p.Q565H	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		11	1832	-			505			RRM 2.|Necessary for stress granule assembly and correct localization in dcp1 bodies.		B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37	c.1695G>C		.	.	.	.	.	.	.	.	.	.	c	18.85	3.710994	0.68730	.	.	ENSG00000214575	ENST00000450751;ENST00000398593;ENST00000423133;ENST00000398591;ENST00000261723;ENST00000398592	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.85	4.85	0.62838	RNA recognition motif domain (1);	0.000000	0.85682	U	0.000000	T	0.55097	0.1899	M	0.88105	2.93	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;0.998	D;D;D;D	0.76071	0.964;0.964;0.987;0.935	T	0.62923	-0.6751	10	0.87932	D	0	-10.0875	11.8197	0.52232	0.0:0.9193:0.0:0.0807	.	503;500;505;500	B7Z237;Q9BZB8-3;Q9BZB8;E7ET70	.;.;CPEB1_HUMAN;.	H	500;500;425;430;503;274	ENSP00000397526:Q425H;ENSP00000381591:Q430H;ENSP00000261723:Q503H;ENSP00000381592:Q274H	ENSP00000261723:Q503H	Q	-	3	2	CPEB1	81012321	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.815000	0.48018	2.396000	0.81511	0.563000	0.77884	CAG		0.483	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		8	74	0	0	0	0	8	74				
IQGAP1	8826	broad.mit.edu	37	15	90934036	90934036	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr15:90934036A>T	ENST00000268182.5	+	2	210	c.86A>T	c.(85-87)gAg>gTg	p.E29V	RP11-154B12.3_ENST00000560578.1_RNA|IQGAP1_ENST00000560738.1_Missense_Mutation_p.E29V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	29					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTTACTGCAGAGGAGATGGAT	0.423																																						uc002bpl.1		NA																	0				ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(85-87)GAG>GTG		IQ motif containing GTPase activating protein 1							195.0	178.0	184.0					15																	90934036		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:90934036A>T	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.86A>T	15.37:g.90934036A>T	ENSP00000268182:p.Glu29Val						p.E29V	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		2	187	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		29					A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.86A>T	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101387	0.56183	.	.	ENSG00000140575	ENST00000268182	T	0.02682	4.2	4.73	4.73	0.59995	.	0.124618	0.53938	D	0.000054	T	0.11623	0.0283	M	0.73217	2.22	0.34708	D	0.727401	D	0.63880	0.993	D	0.63113	0.911	T	0.06303	-1.0834	10	0.59425	D	0.04	-26.5902	12.2142	0.54396	1.0:0.0:0.0:0.0	.	29	P46940	IQGA1_HUMAN	V	29	ENSP00000268182:E29V	ENSP00000268182:E29V	E	+	2	0	IQGAP1	88735040	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.627000	0.90974	1.991000	0.58162	0.379000	0.24179	GAG		0.423	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		10	103	0	0	0	0	10	103				
JMJD8	339123	broad.mit.edu	37	16	731286	731286	+	IGR	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:731286C>T	ENST00000293882.4	-	0	2123				STUB1_ENST00000219548.4_Silent_p.F98F|LA16c-313D11.9_ENST00000567091.1_RNA|STUB1_ENST00000566181.2_3'UTR|STUB1_ENST00000565677.1_Silent_p.F26F|STUB1_ENST00000564370.1_Silent_p.F26F|LA16c-313D11.9_ENST00000571933.1_RNA			Q96S16	JMJD8_HUMAN	jumonji domain containing 8							extracellular vesicular exosome (GO:0070062)				breast(1)	1						AGGCGCACTTCTTCCTGGGGC	0.652																																						uc002cit.2		NA																	0					0						c.(292-294)TTC>TTT		STIP1 homology and U-box containing protein 1							42.0	40.0	41.0					16																	731286		2197	4298	6495	SO:0001628	intergenic_variant	10273				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity	g.chr16:731286C>T		CCDS45369.1	16p13.3	2008-07-28	2008-07-28	2008-07-28		ENSG00000161999			14148	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 20"""	C16orf20			Standard	NM_001005920		Approved		uc002ciw.1	Q96S16			16.37:g.731286C>T						STUB1_uc002ciu.2_Silent_p.F26F|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA	p.F98F	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN			2	705	+		Hepatocellular(780;0.00335)	98			TPR 3.		B2RNS7|D3DU58|Q4PKE3|Q4VBY1|Q6GMW5|Q71RB8	Silent	SNP	ENST00000293882.4	37	c.294C>T																																																																																					0.652	JMJD8-201	KNOWN	basic	protein_coding	protein_coding		NM_001005920		3	27	0	0	0	0	3	27				
ZC3H7A	29066	broad.mit.edu	37	16	11862205	11862205	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:11862205C>G	ENST00000396516.2	-	11	1523	c.1326G>C	c.(1324-1326)ttG>ttC	p.L442F	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.L442F			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	442						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						AAGCTTGTCTCAATTCATGGG	0.413																																						uc002dbk.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1324-1326)TTG>TTC		zinc finger CCCH-type containing 7A							160.0	154.0	156.0					16																	11862205		2197	4300	6497	SO:0001583	missense	29066					nucleus	nucleic acid binding|zinc ion binding	g.chr16:11862205C>G	AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.1326G>C	16.37:g.11862205C>G	ENSP00000379773:p.Leu442Phe					ZC3H7A_uc002dbj.2_5'Flank|ZC3H7A_uc002dbl.2_Missense_Mutation_p.L442F|ZC3H7A_uc002dbm.1_Missense_Mutation_p.L352F	p.L442F	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN			11	1524	-			442					D3DUG5|Q9NPE9	Missense_Mutation	SNP	ENST00000396516.2	37	c.1326G>C	CCDS10550.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687196	0.29962	.	.	ENSG00000122299	ENST00000355758;ENST00000396516	T;T	0.07114	3.22;3.22	5.65	3.69	0.42338	.	0.056430	0.64402	D	0.000001	T	0.03651	0.0104	N	0.13299	0.325	0.80722	D	1	B;B	0.13145	0.007;0.007	B;B	0.22152	0.038;0.017	T	0.30179	-0.9987	10	0.02654	T	1	.	4.8149	0.13362	0.1549:0.6083:0.0:0.2368	.	163;442	Q9NXC8;Q8IWR0	.;Z3H7A_HUMAN	F	442	ENSP00000347999:L442F;ENSP00000379773:L442F	ENSP00000347999:L442F	L	-	3	2	ZC3H7A	11769706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.868000	0.27982	1.395000	0.46643	0.591000	0.81541	TTG		0.413	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		38	181	0	0	0	0	38	181				
DCUN1D3	123879	broad.mit.edu	37	16	20871316	20871316	+	Silent	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:20871316G>C	ENST00000324344.4	-	3	1092	c.807C>G	c.(805-807)ctC>ctG	p.L269L	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Silent_p.L269L	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	269	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.				negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		AGGTGTCAAAGAGACTTGGCC	0.552																																						uc002dhz.2		NA																	0				ovary(2)	2						c.(805-807)CTC>CTG		DCN1, defective in cullin neddylation 1, domain							73.0	66.0	69.0					16																	20871316		2201	4300	6501	SO:0001819	synonymous_variant	123879				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm		g.chr16:20871316G>C	BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"""			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.807C>G	16.37:g.20871316G>C						ERI2_uc002dht.3_Intron	p.L269L	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN		GBM - Glioblastoma multiforme(48;0.249)	3	948	-			269			DCUN1.		B3KVY4	Silent	SNP	ENST00000324344.4	37	c.807C>G	CCDS10592.1																																																																																				0.552	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254415.2	NM_173475		7	39	0	0	0	0	7	39				
USP31	57478	broad.mit.edu	37	16	23116891	23116891	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:23116891G>A	ENST00000219689.7	-	5	959	c.960C>T	c.(958-960)ctC>ctT	p.L320L		NM_020718.3	NP_065769.3	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 31	0	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CAGTGACATAGAGAGGCCTGT	0.418																																						uc002dll.2		NA																	0				ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10						c.(958-960)CTC>CTT		ubiquitin specific peptidase 31							95.0	77.0	83.0					16																	23116891		2197	4300	6497	SO:0001819	synonymous_variant	57478				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr16:23116891G>A	AB033029	CCDS10607.1	16p12.3	2008-02-05	2005-08-08		ENSG00000103404	ENSG00000103404		"""Ubiquitin-specific peptidases"""	20060	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"""			12838346	Standard	NM_020718		Approved	KIAA1203	uc002dll.3	Q70CQ4	OTTHUMG00000094793	ENST00000219689.7:c.960C>T	16.37:g.23116891G>A							p.L320L	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN		GBM - Glioblastoma multiforme(48;0.0187)	5	960	-			320					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000219689.7	37	c.960C>T	CCDS10607.1																																																																																				0.418	USP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211607.1	NM_020718		11	52	0	0	0	0	11	52				
TNRC6A	27327	broad.mit.edu	37	16	24800705	24800705	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:24800705G>C	ENST00000395799.3	+	6	871	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	TNRC6A_ENST00000315183.7_Missense_Mutation_p.E248Q	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	248	Interaction with argonaute family proteins.|Ser-rich.				cellular response to starvation (GO:0009267)|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)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAGTGATCCGGAGTTGGCTTC	0.458																																						uc002dmm.2		NA																	0				ovary(2)	2						c.(742-744)GAG>CAG		trinucleotide repeat containing 6A							87.0	93.0	91.0					16																	24800705		2197	4300	6497	SO:0001583	missense	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24800705G>C	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.742G>C	16.37:g.24800705G>C	ENSP00000379144:p.Glu248Gln					TNRC6A_uc010bxs.2_5'UTR|TNRC6A_uc010vcc.1_5'UTR|TNRC6A_uc002dmn.2_5'UTR|TNRC6A_uc002dmo.2_5'UTR	p.E248Q	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	856	+			248			Ser-rich.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	ENST00000395799.3	37	c.742G>C	CCDS10624.2	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583122	0.65992	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.14766	2.48;2.5	5.81	5.81	0.92471	.	0.282399	0.35772	N	0.002990	T	0.39627	0.1085	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.01863	-1.1258	10	0.41790	T	0.15	-11.5916	20.0797	0.97768	0.0:0.0:1.0:0.0	.	248	Q8NDV7	TNR6A_HUMAN	Q	248	ENSP00000326900:E248Q;ENSP00000379144:E248Q	ENSP00000326900:E248Q	E	+	1	0	TNRC6A	24708206	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	8.986000	0.93492	2.752000	0.94435	0.467000	0.42956	GAG		0.458	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		10	122	0	0	0	0	10	122				
DRC7	84229	broad.mit.edu	37	16	57741450	57741450	+	Missense_Mutation	SNP	G	G	A	rs116219187	byFrequency	TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:57741450G>A	ENST00000360716.3	+	8	1158	c.937G>A	c.(937-939)Gag>Aag	p.E313K	CCDC135_ENST00000394337.4_Missense_Mutation_p.E313K|CCDC135_ENST00000336825.8_Missense_Mutation_p.E248K			Q8IY82	CC135_HUMAN		313					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGGGAAGCGCGAGGTGCCTGA	0.587													g|||	3	0.000599042	0.0	0.0	5008	,	,		20324	0.002		0.0	False		,,,				2504	0.001					uc002emi.2		NA																	0				central_nervous_system(1)	1						c.(937-939)GAG>AAG		coiled-coil domain containing 135							78.0	71.0	73.0					16																	57741450		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57741450G>A																												ENST00000360716.3:c.937G>A	16.37:g.57741450G>A	ENSP00000353942:p.Glu313Lys					CCDC135_uc002emj.2_Missense_Mutation_p.E313K|CCDC135_uc002emk.2_Missense_Mutation_p.E248K	p.E313K	NM_032269	NP_115645	Q8IY82	CC135_HUMAN			7	1026	+			313					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.937G>A	CCDS10787.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	24.6	4.546153	0.86022	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.77358	2.03;-1.09;2.03	5.03	5.03	0.67393	.	0.281734	0.39020	N	0.001488	D	0.87997	0.6319	M	0.84683	2.71	0.46609	D	0.99912	D;D	0.89917	1.0;1.0	D;P	0.85130	0.997;0.901	D	0.87922	0.2704	10	0.40728	T	0.16	-38.674	12.7884	0.57520	0.0819:0.0:0.9181:0.0	.	248;313	Q8IY82-2;Q8IY82	.;CC135_HUMAN	K	313;248;313	ENSP00000377869:E313K;ENSP00000338938:E248K;ENSP00000353942:E313K	ENSP00000338938:E248K	E	+	1	0	CCDC135	56298951	1.000000	0.71417	0.936000	0.37596	0.873000	0.50193	6.008000	0.70739	2.332000	0.79248	0.637000	0.83480	GAG		0.587	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			10	52	0	0	0	0	10	52				
TMED6	146456	broad.mit.edu	37	16	69385485	69385485	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:69385485G>T	ENST00000288025.3	-	1	227	c.172C>A	c.(172-174)Caa>Aaa	p.Q58K	RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Missense_Mutation_p.A50E	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	58	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						TGGGCAAATTGCCAAAAGCAT	0.483																																						uc002exc.1		NA																	0				ovary(1)	1						c.(172-174)CAA>AAA		transmembrane emp24 protein transport domain							91.0	88.0	89.0					16																	69385485		2198	4300	6498	SO:0001583	missense	146456				transport	endoplasmic reticulum membrane|integral to membrane		g.chr16:69385485G>T	BC020827	CCDS10878.1	16q22.1	2008-02-05			ENSG00000157315	ENSG00000157315			28331	protein-coding gene	gene with protein product						12477932	Standard	NM_144676		Approved	MGC23911	uc002exc.2	Q8WW62	OTTHUMG00000137571	ENST00000288025.3:c.172C>A	16.37:g.69385485G>T	ENSP00000288025:p.Gln58Lys						p.Q58K	NM_144676	NP_653277	Q8WW62	TMED6_HUMAN			1	205	-			58			Lumenal (Potential).|GOLD.		Q6UXN5	Missense_Mutation	SNP	ENST00000288025.3	37	c.172C>A	CCDS10878.1	.	.	.	.	.	.	.	.	.	.	G	32	5.150095	0.94645	.	.	ENSG00000157315	ENST00000288025	T	0.16457	2.34	5.85	5.85	0.93711	GOLD (2);	0.058275	0.64402	D	0.000001	T	0.41442	0.1159	M	0.74258	2.255	0.58432	D	0.999999	D	0.56968	0.978	P	0.57911	0.829	T	0.17137	-1.0379	10	0.72032	D	0.01	-9.8014	20.1634	0.98142	0.0:0.0:1.0:0.0	.	58	Q8WW62	TMED6_HUMAN	K	58	ENSP00000288025:Q58K	ENSP00000288025:Q58K	Q	-	1	0	TMED6	67942986	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.753000	0.91637	2.773000	0.95371	0.655000	0.94253	CAA		0.483	TMED6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268951.1	NM_144676		17	131	1	0	5.35e-07	5.8e-07	17	131				
WWP2	11060	broad.mit.edu	37	16	69969816	69969816	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:69969816C>T	ENST00000359154.2	+	18	2004	c.1903C>T	c.(1903-1905)Ctc>Ttc	p.L635F	WWP2_ENST00000448661.1_Missense_Mutation_p.L635F|MIR140_ENST00000385282.1_RNA|WWP2_ENST00000568684.1_Missense_Mutation_p.L196F|WWP2_ENST00000356003.2_Missense_Mutation_p.L635F|WWP2_ENST00000542271.1_Missense_Mutation_p.L519F|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	635	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAAGCGGATGCTCAATAAGAG	0.547																																						uc002exu.1		NA																	0				lung(3)|ovary(1)|breast(1)|skin(1)	6						c.(1903-1905)CTC>TTC		WW domain containing E3 ubiquitin protein ligase							171.0	160.0	164.0					16																	69969816		2198	4300	6498	SO:0001583	missense	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69969816C>T	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1903C>T	16.37:g.69969816C>T	ENSP00000352069:p.Leu635Phe					WWP2_uc002exv.1_Missense_Mutation_p.L635F|WWP2_uc010vlm.1_Missense_Mutation_p.L519F|WWP2_uc010vln.1_Missense_Mutation_p.L253F|WWP2_uc002exw.1_Missense_Mutation_p.L196F	p.L635F	NM_007014	NP_008945	O00308	WWP2_HUMAN			19	1992	+			635			HECT.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	c.1903C>T	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858982	0.91433	.	.	ENSG00000198373	ENST00000359154;ENST00000545099;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.81	5.81	0.92471	HECT (4);	0.000000	0.85682	D	0.000000	D	0.83566	0.5282	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87012	0.2123	9	.	.	.	.	13.298	0.60309	0.0:0.9281:0.0:0.0719	.	635	O00308	WWP2_HUMAN	F	635;196;635;635;522;519	ENSP00000352069:L635F;ENSP00000396871:L635F;ENSP00000348283:L635F;ENSP00000445616:L519F	.	L	+	1	0	WWP2	68527317	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.091000	0.71406	2.746000	0.94184	0.655000	0.94253	CTC		0.547	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		32	157	0	0	0	0	32	157				
ZFHX3	463	broad.mit.edu	37	16	72830136	72830136	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr16:72830136G>A	ENST00000268489.5	-	9	7117	c.6445C>T	c.(6445-6447)Cgc>Tgc	p.R2149C	ZFHX3_ENST00000397992.5_Missense_Mutation_p.R1235C	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2149					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATCCTGGTGCGAGGCCTCTTG	0.547																																						uc002fck.2		NA																	0				ovary(2)|skin(2)	4						c.(6445-6447)CGC>TGC		zinc finger homeobox 3 isoform A							59.0	56.0	57.0					16																	72830136		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72830136G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6445C>T	16.37:g.72830136G>A	ENSP00000268489:p.Arg2149Cys					ZFHX3_uc002fcl.2_Missense_Mutation_p.R1235C	p.R2149C	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			9	7118	-		Ovarian(137;0.13)	2149			Homeobox 1.		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.6445C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565215	0.65651	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	D;D	0.99186	-5.53;-5.53	5.64	5.64	0.86602	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.49305	D	0.000157	D	0.99632	0.9865	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97628	1.0140	10	0.87932	D	0	.	19.7094	0.96085	0.0:0.0:1.0:0.0	.	2149	Q15911	ZFHX3_HUMAN	C	2149;1235	ENSP00000268489:R2149C;ENSP00000438926:R1235C	ENSP00000268489:R2149C	R	-	1	0	ZFHX3	71387637	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.894000	0.87336	2.639000	0.89480	0.655000	0.94253	CGC		0.547	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		12	64	0	0	0	0	12	64				
TSR1	55720	broad.mit.edu	37	17	2234280	2234280	+	Silent	SNP	G	G	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:2234280G>T	ENST00000301364.5	-	9	2699	c.1620C>A	c.(1618-1620)atC>atA	p.I540I	SNORD91B_ENST00000391250.1_RNA|SNORD91A_ENST00000390861.1_RNA	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	540					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CCTCTTTAAAGATGCTTTTCC	0.393																																						uc002fuj.2		NA																	0				ovary(1)	1						c.(1618-1620)ATC>ATA		TSR1, 20S rRNA accumulation							144.0	132.0	136.0					17																	2234280		2203	4300	6503	SO:0001819	synonymous_variant	55720				ribosome assembly	nucleolus	protein binding	g.chr17:2234280G>T	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1620C>A	17.37:g.2234280G>T						SNORD91B_uc002fuk.1_5'Flank|SNORD91A_uc002ful.1_5'Flank	p.I540I	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN			9	2577	-			540					Q8WUY5|Q9NVT0|Q9P2E6	Silent	SNP	ENST00000301364.5	37	c.1620C>A	CCDS32525.1																																																																																				0.393	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		7	66	1	0	2.01e-06	2.17e-06	7	66				
CAMKK1	84254	broad.mit.edu	37	17	3783646	3783646	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:3783646C>T	ENST00000348335.2	-	9	938	c.790G>A	c.(790-792)Gag>Aag	p.E264K	CAMKK1_ENST00000381771.2_Missense_Mutation_p.E302K|CAMKK1_ENST00000381769.2_Missense_Mutation_p.E291K|CAMKK1_ENST00000158166.5_Missense_Mutation_p.E302K	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	264	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		TCACAGTACTCGAGGCCCAGG	0.652																																						uc002fwt.2		NA																	0				ovary(1)	1						c.(790-792)GAG>AAG		calcium/calmodulin-dependent protein kinase 1							55.0	42.0	47.0					17																	3783646		2203	4300	6503	SO:0001583	missense	84254				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr17:3783646C>T	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.790G>A	17.37:g.3783646C>T	ENSP00000323118:p.Glu264Lys					CAMKK1_uc002fwu.2_Missense_Mutation_p.E264K|CAMKK1_uc002fwv.2_Missense_Mutation_p.E302K	p.E264K	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	9	884	-			264			Protein kinase.		Q9BQH3	Missense_Mutation	SNP	ENST00000348335.2	37	c.790G>A	CCDS11038.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658884	0.88154	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.65	5.65	0.86999	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71273	0.3320	L	0.33245	0.995	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72075	0.969;0.976	T	0.73736	-0.3889	10	0.87932	D	0	-41.1059	17.218	0.86949	0.0:1.0:0.0:0.0	.	302;264	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	K	291;264;302;302	ENSP00000371188:E291K;ENSP00000323118:E264K;ENSP00000371190:E302K;ENSP00000158166:E302K	ENSP00000158166:E302K	E	-	1	0	CAMKK1	3730395	1.000000	0.71417	0.990000	0.47175	0.250000	0.25880	7.081000	0.76844	2.668000	0.90789	0.655000	0.94253	GAG		0.652	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207		7	38	0	0	0	0	7	38				
TP53	7157	broad.mit.edu	37	17	7576927	7576927	+	Splice_Site	SNP	C	C	G	rs587781702		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:7576927C>G	ENST00000269305.4	-	9	1109		c.e9-1		TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	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						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.?(20)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(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)	TTGGGCAGTGCTAGGAAAGAG	0.493		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		30	Unknown(20)|Whole gene deletion(8)|Deletion - Frameshift(2)	p.?(16)|p.0?(7)|p.A307fs*34(1)|p.L308fs*31(1)	upper_aerodigestive_tract(7)|ovary(5)|bone(4)|central_nervous_system(3)|lung(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|liver(2)|stomach(1)|gastrointestinal_tract_(site_indeterminate)(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						c.e9-1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							138.0	124.0	129.0					17																	7576927		2203	4300	6503	SO:0001630	splice_region_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.chr17:7576927C>G	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.920-1G>C	17.37:g.7576927C>G		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_Splice_Site_p.A307_splice|TP53_uc010cne.1_Splice_Site|TP53_uc010cnf.1_Splice_Site_p.A175_splice|TP53_uc010cng.1_Splice_Site_p.A175_splice|TP53_uc002gii.1_Splice_Site_p.A175_splice|TP53_uc010cnh.1_Splice_Site_p.A307_splice|TP53_uc010cni.1_Splice_Site_p.A307_splice|TP53_uc002gij.2_Splice_Site_p.A307_splice	p.A307_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	9	1114	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37	c.920_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	9.271	1.045604	0.19748	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0356	0.58870	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517652	0.043000	0.20138	0.996000	0.52242	0.305000	0.27757	0.852000	0.27764	2.462000	0.83206	0.561000	0.74099	.		0.493	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	16	73	0	0	0	0	16	73				
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:7577099C>G	ENST00000269305.4	-	8	1028	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R280T|TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R280T|TP53_ENST00000455263.2_Missense_Mutation_p.R280T	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	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(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)	GCGCCGGTCTCTCCCAGGACA	0.542		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		154	Substitution - Missense(130)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(2)	p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(1)	urinary_tract(50)|breast(22)|lung(20)|upper_aerodigestive_tract(14)|haematopoietic_and_lymphoid_tissue(8)|large_intestine(5)|central_nervous_system(5)|stomach(4)|biliary_tract(4)|oesophagus(4)|skin(4)|ovary(4)|bone(4)|prostate(3)|small_intestine(1)|endometrium(1)|vagina(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	CM993218	TP53	M	rs121912660	c.(838-840)AGA>ACA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							77.0	67.0	70.0					17																	7577099		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.chr17:7577099C>G	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.839G>C	17.37:g.7577099C>G	ENSP00000269305:p.Arg280Thr	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.R280T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148T|TP53_uc010cng.1_Missense_Mutation_p.R148T|TP53_uc002gii.1_Missense_Mutation_p.R148T|TP53_uc010cnh.1_Missense_Mutation_p.R280T|TP53_uc010cni.1_Missense_Mutation_p.R280T|TP53_uc002gij.2_Missense_Mutation_p.R280T	p.R280T	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1033	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	280		R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with DNA.||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.839G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.091761	0.94149	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.998;0.992	D;D;D;D	0.97110	0.984;1.0;0.984;0.977	D	0.96400	0.9296	10	0.87932	D	0	-21.0303	16.1198	0.81342	0.0:1.0:0.0:0.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	T	280;280;280;280;280;269;148	ENSP00000352610:R280T;ENSP00000269305:R280T;ENSP00000398846:R280T;ENSP00000391127:R280T;ENSP00000391478:R280T;ENSP00000425104:R148T	ENSP00000269305:R280T	R	-	2	0	TP53	7517824	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	AGA		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		3	28	0	0	0	0	3	28				
NCOR1	9611	broad.mit.edu	37	17	16089965	16089965	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:16089965C>T	ENST00000268712.3	-	3	402	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	NCOR1_ENST00000395851.1_Missense_Mutation_p.E49K|NCOR1_ENST00000395848.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	49	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGACTCACTTCAAGATGAGAG	0.408																																						uc002gpo.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(145-147)GAA>AAA		nuclear receptor co-repressor 1							93.0	83.0	86.0					17																	16089965		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16089965C>T	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.145G>A	17.37:g.16089965C>T	ENSP00000268712:p.Glu49Lys					NCOR1_uc002gpn.2_Missense_Mutation_p.E49K|NCOR1_uc002gpp.1_Intron|NCOR1_uc002gpr.2_Intron|NCOR1_uc002gps.1_Missense_Mutation_p.E49K|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Missense_Mutation_p.E49K|NCOR1_uc010cpa.1_Missense_Mutation_p.E49K|NCOR1_uc002gpu.2_Missense_Mutation_p.E49K	p.E49K	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	3	385	-			49			Interaction with ZBTB33 and HEXIM1.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.145G>A	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257099	0.59321	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000458113;ENST00000411510;ENST00000436828;ENST00000430577	T;T	0.44083	0.93;1.54	5.78	5.78	0.91487	.	0.204075	0.43416	D	0.000579	T	0.56746	0.2006	L	0.36672	1.1	0.80722	D	1	P;P;D;P;P;D	0.67145	0.605;0.605;0.99;0.605;0.913;0.996	B;B;D;B;P;D	0.76071	0.175;0.175;0.979;0.175;0.684;0.987	T	0.51965	-0.8638	10	0.42905	T	0.14	-14.1607	19.0021	0.92838	0.0:1.0:0.0:0.0	.	49;49;49;49;49;49	E7EU93;E7EV02;Q3B773;E7EW50;O75376;O75376-2	.;.;.;.;NCOR1_HUMAN;.	K	49	ENSP00000268712:E49K;ENSP00000379192:E49K	ENSP00000268712:E49K	E	-	1	0	NCOR1	16030690	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	4.148000	0.58085	2.724000	0.93272	0.563000	0.77884	GAA		0.408	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		6	80	0	0	0	0	6	80				
MKS1	54903	broad.mit.edu	37	17	56289744	56289744	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:56289744C>G	ENST00000393119.2	-	9	984	c.910G>C	c.(910-912)Gag>Cag	p.E304Q	MKS1_ENST00000337050.7_Missense_Mutation_p.E304Q|MKS1_ENST00000546108.1_Missense_Mutation_p.E101Q|MKS1_ENST00000537529.2_Missense_Mutation_p.E294Q|MKS1_ENST00000313863.6_Missense_Mutation_p.E304Q	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	304					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTCACCATCTCAAAGTCGGTG	0.502																																						uc002ivr.1		NA																	0				ovary(1)	1						c.(910-912)GAG>CAG		Meckel syndrome type 1 protein isoform 1							95.0	98.0	97.0					17																	56289744		2039	4217	6256	SO:0001583	missense	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56289744C>G	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.910G>C	17.37:g.56289744C>G	ENSP00000376827:p.Glu304Gln					MKS1_uc010wnq.1_Missense_Mutation_p.E101Q|MKS1_uc002ivs.1_Missense_Mutation_p.E304Q	p.E304Q	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN			9	985	-			304					B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	ENST00000393119.2	37	c.910G>C	CCDS11603.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.7|23.7	4.448808|4.448808	0.84101|0.84101	.|.	.|.	ENSG00000011143|ENSG00000011143	ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050;ENST00000546108|ENST00000313863	T;T;T;T|.	0.74947|.	-0.48;-0.49;-0.25;-0.89|.	6.14|6.14	6.14|6.14	0.99180|0.99180	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76133|0.76133	0.3945|0.3945	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;B|.	0.67145|.	0.996;0.151|.	P;B|.	0.58970|.	0.849;0.05|.	T|T	0.73313|0.73313	-0.4022|-0.4022	10|5	0.44086|.	T|.	0.13|.	-12.7467|-12.7467	18.3129|18.3129	0.90207|0.90207	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	304;304|.	A8MPP8;Q9NXB0|.	.;MKS1_HUMAN|.	Q|F	294;304;304;304;101|304	ENSP00000442096:E294Q;ENSP00000376827:E304Q;ENSP00000338407:E304Q;ENSP00000443012:E101Q|.	ENSP00000338407:E304Q|.	E|L	-|-	1|3	0|2	MKS1|MKS1	53644743|53644743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.590000|7.590000	0.82653|0.82653	2.927000|2.927000	0.99377|0.99377	0.637000|0.637000	0.83480|0.83480	GAG|TTG		0.502	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777		18	84	0	0	0	0	18	84				
LPO	4025	broad.mit.edu	37	17	56345268	56345268	+	Silent	SNP	C	C	T	rs3744104		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:56345268C>T	ENST00000262290.4	+	13	2368	c.2052C>T	c.(2050-2052)ttC>ttT	p.F684F	LPO_ENST00000543544.1_Silent_p.F625F|LPO_ENST00000421678.2_Silent_p.F601F|LPO_ENST00000582328.1_Silent_p.F601F	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	684					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGGACCCATTCTGGGCCAACA	0.572																																						uc002ivt.2		NA																	0				ovary(1)|breast(1)	2						c.(2050-2052)TTC>TTT		lactoperoxidase isoform 1 preproprotein							107.0	92.0	97.0					17																	56345268		2203	4300	6503	SO:0001819	synonymous_variant	4025				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56345268C>T	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.2052C>T	17.37:g.56345268C>T						LPO_uc010wns.1_Silent_p.F625F|LPO_uc010dcp.2_Silent_p.F601F|LPO_uc010dcq.2_Silent_p.F355F|LPO_uc010dcr.2_Silent_p.F247F	p.F684F	NM_006151	NP_006142	P22079	PERL_HUMAN			13	2368	+			684					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	ENST00000262290.4	37	c.2052C>T	CCDS32689.1																																																																																				0.572	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			18	104	0	0	0	0	18	104				
ICAM2	3384	broad.mit.edu	37	17	62081150	62081150	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:62081150G>A	ENST00000412356.1	-	5	857	c.503C>T	c.(502-504)cCg>cTg	p.P168L	ICAM2_ENST00000579788.1_Missense_Mutation_p.P168L|ICAM2_ENST00000449662.2_Missense_Mutation_p.P168L|ICAM2_ENST00000578892.1_Missense_Mutation_p.P144L|ICAM2_ENST00000418105.1_Missense_Mutation_p.P168L|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000578379.1_Missense_Mutation_p.P67L|ICAM2_ENST00000579687.1_Missense_Mutation_p.P168L|C17orf72_ENST00000412177.1_3'UTR	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	168	Ig-like C2-type 2.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|uropod (GO:0001931)	integrin binding (GO:0005178)			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GGCCTCCTGCGGAGCAGGGGC	0.627																																						uc002jdu.3		NA																	0				ovary(1)	1						c.(502-504)CCG>CTG		intercellular adhesion molecule 2 precursor							75.0	63.0	67.0					17																	62081150		2203	4300	6503	SO:0001583	missense	3384				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr17:62081150G>A		CCDS11657.1	17q23.3	2014-01-30			ENSG00000108622	ENSG00000108622		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5345	protein-coding gene	gene with protein product		146630				1769660	Standard	NM_001099786		Approved	CD102	uc002jdx.4	P13598		ENST00000412356.1:c.503C>T	17.37:g.62081150G>A	ENSP00000415283:p.Pro168Leu					C17orf72_uc002jdt.3_3'UTR|C17orf72_uc010wpu.1_3'UTR|C17orf72_uc010wpv.1_3'UTR|C17orf72_uc010wpw.1_3'UTR|ICAM2_uc002jdw.3_Missense_Mutation_p.P168L|ICAM2_uc010ded.2_Missense_Mutation_p.P168L|ICAM2_uc002jdx.3_Missense_Mutation_p.P168L|ICAM2_uc002jdv.3_Missense_Mutation_p.P168L	p.P168L	NM_000873	NP_000864	P13598	ICAM2_HUMAN			3	735	-			168			Ig-like C2-type 2.|Extracellular (Potential).		Q14600	Missense_Mutation	SNP	ENST00000412356.1	37	c.503C>T	CCDS11657.1	.	.	.	.	.	.	.	.	.	.	g	8.302	0.820071	0.16678	.	.	ENSG00000108622	ENST00000412356;ENST00000418105;ENST00000449662	T;T;T	0.02863	4.13;4.13;4.13	5.54	0.868	0.19090	Immunoglobulin-like fold (1);	0.515749	0.21042	N	0.081151	T	0.01523	0.0049	N	0.11064	0.09	0.09310	N	1	B	0.14805	0.011	B	0.04013	0.001	T	0.49744	-0.8907	10	0.13470	T	0.59	-12.3034	8.126	0.30999	0.319:0.0:0.681:0.0	.	168	P13598	ICAM2_HUMAN	L	168	ENSP00000415283:P168L;ENSP00000388666:P168L;ENSP00000392634:P168L	ENSP00000415283:P168L	P	-	2	0	ICAM2	59434882	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.138000	0.16016	0.290000	0.22444	-1.318000	0.01297	CCG		0.627	ICAM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443687.1			16	74	0	0	0	0	16	74				
AXIN2	8313	broad.mit.edu	37	17	63537611	63537611	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:63537611C>A	ENST00000375702.5	-	3	1129	c.1021G>T	c.(1021-1023)Gtg>Ttg	p.V341L	AXIN2_ENST00000307078.5_Missense_Mutation_p.V341L|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	341	Interaction with GSK3B. {ECO:0000250}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTGGCCTTCACACTGCGATGC	0.473									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													uc002jfi.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1021-1023)GTG>TTG		axin 2							188.0	155.0	166.0					17																	63537611		2203	4300	6503	SO:0001583	missense	8313	Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63537611C>A	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.1021G>T	17.37:g.63537611C>A	ENSP00000364854:p.Val341Leu					AXIN2_uc010den.1_Missense_Mutation_p.V341L|AXIN2_uc002jfh.2_Missense_Mutation_p.V341L	p.V341L	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN			4	1310	-			341			Interaction with GSK3B (By similarity).		Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.1021G>T		.	.	.	.	.	.	.	.	.	.	C	17.31	3.357780	0.61403	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	D;D	0.81579	-1.51;-1.51	4.98	4.98	0.66077	.	0.126311	0.52532	D	0.000071	T	0.78717	0.4327	L	0.54323	1.7	0.47621	D	0.999477	P;B;P	0.49253	0.921;0.129;0.921	B;B;B	0.41036	0.346;0.041;0.346	T	0.82275	-0.0538	10	0.59425	D	0.04	-26.6165	18.2524	0.90007	0.0:1.0:0.0:0.0	.	341;341;341	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	L	341	ENSP00000302625:V341L;ENSP00000364854:V341L	ENSP00000302625:V341L	V	-	1	0	AXIN2	60968073	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	3.555000	0.53727	2.317000	0.78254	0.561000	0.74099	GTG		0.473	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		15	117	1	0	5.35e-07	5.8e-07	15	117				
APOH	350	broad.mit.edu	37	17	64216816	64216816	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:64216816G>A	ENST00000205948.6	-	5	497	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	154	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.		R -> H (in dbSNP:rs8178847). {ECO:0000269|Ref.8}.		blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TTATAAACACGAAGTGTTGCA	0.383																																					Melanoma(155;624 1882 16869 48804 51309)	uc002jfn.3		NA																	0					0						c.(460-462)CGT>TGT		apolipoprotein H precursor							114.0	111.0	112.0					17																	64216816		2203	4300	6503	SO:0001583	missense	350				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	g.chr17:64216816G>A		CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.460C>T	17.37:g.64216816G>A	ENSP00000205948:p.Arg154Cys						p.R154C	NM_000042	NP_000033	P02749	APOH_HUMAN	BRCA - Breast invasive adenocarcinoma(6;9.74e-08)		5	519	-			154			Sushi 3.		B2R9M3|Q9UCN7	Missense_Mutation	SNP	ENST00000205948.6	37	c.460C>T	CCDS11663.1	.	.	.	.	.	.	.	.	.	.	g	2.322	-0.355390	0.05138	.	.	ENSG00000091583	ENST00000205948	T	0.64991	-0.13	5.42	0.366	0.16136	Complement control module (2);Sushi/SCR/CCP (3);	1.273270	0.04813	N	0.435553	T	0.39118	0.1066	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.22452	-1.0216	10	0.51188	T	0.08	.	2.5305	0.04702	0.2261:0.0769:0.3888:0.3083	.	154	P02749	APOH_HUMAN	C	154	ENSP00000205948:R154C	ENSP00000205948:R154C	R	-	1	0	APOH	61647278	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	0.415000	0.21181	-0.226000	0.09899	-0.457000	0.05445	CGT		0.383	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446926.1	NM_000042		14	96	0	0	0	0	14	96				
NPTX1	4884	broad.mit.edu	37	17	78444754	78444754	+	Silent	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:78444754C>T	ENST00000306773.4	-	5	1315	c.1158G>A	c.(1156-1158)ctG>ctA	p.L386L	NPTX1_ENST00000575212.1_5'Flank	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	386	Pentaxin.				axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCCCGGGGGTCAGCTTGCGGT	0.592																																						uc002jyp.1		NA																	0					0						c.(1156-1158)CTG>CTA		neuronal pentraxin I precursor							98.0	91.0	94.0					17																	78444754		2203	4300	6503	SO:0001819	synonymous_variant	4884				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	g.chr17:78444754C>T	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.1158G>A	17.37:g.78444754C>T							p.L386L	NM_002522	NP_002513	Q15818	NPTX1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)		5	1316	-	all_neural(118;0.0538)		386			Pentaxin.		B3KXH3|Q5FWE6	Silent	SNP	ENST00000306773.4	37	c.1158G>A	CCDS32762.1																																																																																				0.592	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1			14	84	0	0	0	0	14	84				
ARHGAP28	79822	broad.mit.edu	37	18	6890002	6890002	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr18:6890002C>G	ENST00000383472.4	+	13	1756	c.1652C>G	c.(1651-1653)tCt>tGt	p.S551C	ARHGAP28_ENST00000418986.1_Missense_Mutation_p.S392C|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.S374C|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.S392C|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.S551C|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.S499C|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.S392C|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.S387C			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	551	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AGCAAACACTCTGATTATGAA	0.398																																						uc010wzi.1		NA																	0				pancreas(1)	1						c.(1120-1122)TCT>TGT		SubName: Full=Putative uncharacterized protein ARHGAP28;							152.0	146.0	148.0					18																	6890002		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6890002C>G	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1652C>G	18.37:g.6890002C>G	ENSP00000372964:p.Ser551Cys					ARHGAP28_uc002knc.2_Missense_Mutation_p.S499C|ARHGAP28_uc002knd.2_Missense_Mutation_p.S392C|ARHGAP28_uc002kne.2_Missense_Mutation_p.S392C|ARHGAP28_uc002knf.2_Missense_Mutation_p.S383C	p.S374C			B4DXL2	B4DXL2_HUMAN			12	1359	+		Colorectal(10;0.168)	374					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.1121C>G		.	.	.	.	.	.	.	.	.	.	C	23.1	4.376144	0.82682	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.8	5.8	0.92144	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.341546	0.33938	N	0.004411	T	0.67599	0.2910	M	0.64997	1.995	0.46222	D	0.998936	D;D;D;D	0.89917	1.0;0.999;0.999;0.998	D;D;D;D	0.72075	0.975;0.976;0.96;0.936	T	0.67260	-0.5715	10	0.59425	D	0.04	.	18.826	0.92119	0.0:1.0:0.0:0.0	.	551;383;392;499	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	C	551;499;392;387;392;392;383;374	ENSP00000382963:S551C;ENSP00000262227:S499C;ENSP00000392660:S392C;ENSP00000437262:S387C;ENSP00000313506:S392C;ENSP00000406907:S392C	ENSP00000262227:S499C	S	+	2	0	ARHGAP28	6880002	0.978000	0.34361	0.994000	0.49952	0.986000	0.74619	4.744000	0.62118	2.748000	0.94277	0.655000	0.94253	TCT		0.398	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		12	85	0	0	0	0	12	85				
THEG	51298	broad.mit.edu	37	19	362264	362264	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:362264G>A	ENST00000342640.4	-	8	1118	c.1076C>T	c.(1075-1077)tCt>tTt	p.S359F	THEG_ENST00000346878.2_Missense_Mutation_p.S335F	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	359					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGCTCATAGAGGCGAGGGG	0.602																																						uc002lol.2		NA																	0				ovary(1)	1						c.(1075-1077)TCT>TTT		Theg homolog isoform 1							170.0	169.0	170.0					19																	362264		2203	4300	6503	SO:0001583	missense	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:362264G>A	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.1076C>T	19.37:g.362264G>A	ENSP00000340088:p.Ser359Phe					THEG_uc002lom.2_Missense_Mutation_p.S335F	p.S359F	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1115	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	359					A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	c.1076C>T	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	G	6.000	0.368359	0.11352	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.19105	2.2;2.17	4.05	-4.67	0.03319	.	4.496500	0.00357	N	0.000027	T	0.08088	0.0202	N	0.03608	-0.345	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.10450	0.005;0.005	T	0.16335	-1.0406	10	0.27785	T	0.31	-15.5679	2.6255	0.04928	0.0994:0.3321:0.3198:0.2487	.	335;359	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	F	359;335	ENSP00000340088:S359F;ENSP00000264820:S335F	ENSP00000340088:S359F	S	-	2	0	THEG	313264	0.000000	0.05858	0.002000	0.10522	0.699000	0.40488	-1.258000	0.02863	-1.086000	0.03084	0.650000	0.86243	TCT		0.602	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			24	152	0	0	0	0	24	152				
HAUS8	93323	broad.mit.edu	37	19	17170416	17170416	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:17170416G>A	ENST00000253669.5	-	6	561	c.371C>T	c.(370-372)tCa>tTa	p.S124L	HAUS8_ENST00000593360.1_Missense_Mutation_p.S63L|HAUS8_ENST00000448593.2_Missense_Mutation_p.S123L			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	124					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						AGGTTTCTTTGATATTGTTTT	0.428																																						uc002nfe.2		NA																	0					0						c.(370-372)TCA>TTA		sarcoma antigen NY-SAR-48 isoform a							191.0	181.0	185.0					19																	17170416		2203	4300	6503	SO:0001583	missense	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17170416G>A	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.371C>T	19.37:g.17170416G>A	ENSP00000253669:p.Ser124Leu					HAUS8_uc002nff.2_Missense_Mutation_p.S123L|HAUS8_uc002nfg.1_Missense_Mutation_p.S63L|HAUS8_uc002nfh.1_Missense_Mutation_p.S124L	p.S124L	NM_033417	NP_219485	Q9BT25	HAUS8_HUMAN			6	482	-			124					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Missense_Mutation	SNP	ENST00000253669.5	37	c.371C>T	CCDS32948.1	.	.	.	.	.	.	.	.	.	.	G	8.522	0.868944	0.17322	.	.	ENSG00000131351	ENST00000253669;ENST00000448593	T;T	0.43294	0.95;0.95	3.05	0.889	0.19212	.	1.116690	0.06894	N	0.804751	T	0.28034	0.0691	L	0.27053	0.805	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.23940	-1.0174	10	0.35671	T	0.21	-1.099	5.0978	0.14742	0.2825:0.0:0.7175:0.0	.	63;123;124	Q9BT25-2;C9JBZ4;Q9BT25	.;.;HAUS8_HUMAN	L	124;123	ENSP00000253669:S124L;ENSP00000395298:S123L	ENSP00000253669:S124L	S	-	2	0	HAUS8	17031416	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.254000	0.18314	0.334000	0.23590	-0.258000	0.10820	TCA		0.428	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		13	78	0	0	0	0	13	78				
ZNF208	7757	broad.mit.edu	37	19	22154039	22154039	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:22154039G>C	ENST00000397126.4	-	4	3945	c.3797C>G	c.(3796-3798)tCa>tGa	p.S1266*	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1266					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)				ACTGAAGACTGATAACCAGCT	0.388																																						uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(3412-3414)TCA>TGA		zinc finger protein 208							35.0	37.0	37.0					19																	22154039		2079	4222	6301	SO:0001587	stop_gained	7757							g.chr19:22154039G>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.3797C>G	19.37:g.22154039G>C	ENSP00000380315:p.Ser1266*					ZNF208_uc002nqo.1_Intron	p.S1138*	NM_007153	NP_009084					6	3562	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Nonsense_Mutation	SNP	ENST00000397126.4	37	c.3413C>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	39	7.383592	0.98248	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	.	.	.	2.91	1.76	0.24704	.	.	.	.	.	.	.	.	.	.	.	0.27968	N	0.936519	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.835	0.29365	0.0:0.0:0.7508:0.2492	.	.	.	.	X	1266;1138	.	ENSP00000380315:S1266X	S	-	2	0	ZNF208	21945879	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.732000	0.04904	0.166000	0.19597	0.196000	0.17591	TCA		0.388	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		6	56	0	0	0	0	6	56				
RYR1	6261	broad.mit.edu	37	19	38959733	38959733	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:38959733C>G	ENST00000359596.3	+	26	3509	c.3509C>G	c.(3508-3510)tCt>tGt	p.S1170C	RYR1_ENST00000355481.4_Missense_Mutation_p.S1170C|RYR1_ENST00000360985.3_Missense_Mutation_p.S1170C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1170	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GTCCTCATGTCTGACTCAGGC	0.567																																						uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(3508-3510)TCT>TGT		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						114.0	98.0	103.0					19																	38959733		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38959733C>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3509C>G	19.37:g.38959733C>G	ENSP00000352608:p.Ser1170Cys					RYR1_uc002oiu.2_Missense_Mutation_p.S1170C	p.S1170C	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		26	3639	+	all_cancers(60;7.91e-06)		1170			6 X approximate repeats.|Cytoplasmic.|B30.2/SPRY 2.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.3509C>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	c	13.11	2.137902	0.37728	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97016	-4.2;-4.21;-4.21	3.97	3.97	0.46021	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.169004	0.34676	U	0.003773	D	0.97062	0.9040	L	0.59436	1.845	0.33766	D	0.622476	D;D	0.89917	1.0;0.997	D;D	0.77004	0.989;0.984	D	0.99246	1.0886	10	0.87932	D	0	.	11.7825	0.52023	0.0:0.6801:0.3198:0.0	.	1170;1170	P21817-2;P21817	.;RYR1_HUMAN	C	1170	ENSP00000352608:S1170C;ENSP00000347667:S1170C;ENSP00000354254:S1170C	ENSP00000347667:S1170C	S	+	2	0	RYR1	43651573	0.087000	0.21565	1.000000	0.80357	0.987000	0.75469	0.563000	0.23547	2.073000	0.62155	0.483000	0.47432	TCT		0.567	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			10	100	0	0	0	0	10	100				
ZNF221	7638	broad.mit.edu	37	19	44470712	44470712	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:44470712T>A	ENST00000251269.5	+	6	1386	c.1058T>A	c.(1057-1059)cTt>cAt	p.L353H	ZNF221_ENST00000587682.1_Missense_Mutation_p.L353H|ZNF221_ENST00000592350.1_Missense_Mutation_p.L353H	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AGATCAGCACTTAATAGTCAT	0.403																																						uc002oxx.2		NA																	0				skin(1)	1						c.(1057-1059)CTT>CAT		zinc finger protein 221							144.0	137.0	139.0					19																	44470712		2203	4300	6503	SO:0001583	missense	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44470712T>A	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1058T>A	19.37:g.44470712T>A	ENSP00000251269:p.Leu353His					ZNF221_uc010ejb.1_Missense_Mutation_p.L353H|ZNF221_uc010xws.1_Missense_Mutation_p.L353H	p.L353H	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN			6	1386	+		Prostate(69;0.0352)	353			C2H2-type 7.		B2RAI6|Q2M2H2|Q9P1U8	Missense_Mutation	SNP	ENST00000251269.5	37	c.1058T>A	CCDS12633.1	.	.	.	.	.	.	.	.	.	.	t	14.94	2.684707	0.47991	.	.	ENSG00000159905	ENST00000251269	T	0.54071	0.59	2.22	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.74627	0.3741	M	0.92317	3.295	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61633	-0.7023	9	0.87932	D	0	.	7.2046	0.25899	0.0:0.0:0.2281:0.7718	.	353	Q9UK13	ZN221_HUMAN	H	353	ENSP00000251269:L353H	ENSP00000251269:L353H	L	+	2	0	ZNF221	49162552	0.050000	0.20438	0.000000	0.03702	0.403000	0.30841	2.565000	0.45939	0.089000	0.17243	0.379000	0.24179	CTT		0.403	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			18	121	0	0	0	0	18	121				
SNRNP70	6625	broad.mit.edu	37	19	49610936	49610936	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:49610936C>T	ENST00000598441.1	+	9	856	c.632C>T	c.(631-633)tCa>tTa	p.S211L	SNRNP70_ENST00000221448.5_Missense_Mutation_p.S211L			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	211					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						ATCCGGCATTCAGGCCGCGAT	0.657																																						uc002pmk.2		NA																	0					0						c.(631-633)TCA>TTA		U1 small nuclear ribonucleoprotein 70 kDa							62.0	61.0	61.0					19																	49610936		2203	4300	6503	SO:0001583	missense	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:49610936C>T		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"""RNA binding motif (RRM) containing"""	11150	protein-coding gene	gene with protein product		180740	"""small nuclear ribonucleoprotein 70kDa (RNP antigen)"""	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.632C>T	19.37:g.49610936C>T	ENSP00000472998:p.Ser211Leu					SNRNP70_uc002pmh.1_RNA|SNRNP70_uc002pmi.1_Missense_Mutation_p.S211L|SNRNP70_uc002pml.2_5'UTR|SNRNP70_uc002pmm.2_RNA	p.S211L	NM_003089	NP_003080	P08621	RU17_HUMAN			9	1071	+			211					B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Missense_Mutation	SNP	ENST00000598441.1	37	c.632C>T	CCDS12756.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077138	0.94000	.	.	ENSG00000104852	ENST00000221448;ENST00000544278	T	0.40756	1.02	4.52	4.52	0.55395	.	0.064368	0.64402	D	0.000005	T	0.63307	0.2500	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.68224	-0.5465	10	0.87932	D	0	-4.5377	16.3877	0.83522	0.0:1.0:0.0:0.0	.	211;211	P08621;P08621-2	RU17_HUMAN;.	L	211;115	ENSP00000221448:S211L	ENSP00000221448:S211L	S	+	2	0	SNRNP70	54302748	0.998000	0.40836	0.980000	0.43619	0.989000	0.77384	4.035000	0.57297	2.238000	0.73509	0.462000	0.41574	TCA		0.657	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		12	63	0	0	0	0	12	63				
LILRB3	11025	broad.mit.edu	37	19	54724540	54724540	+	Silent	SNP	G	G	A	rs371484692		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr19:54724540G>A	ENST00000391750.1	-	7	1252	c.1116C>T	c.(1114-1116)taC>taT	p.Y372Y	LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000270464.5_Silent_p.Y372Y|LILRB3_ENST00000346401.6_Silent_p.Y372Y|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000424807.1_Silent_p.Y372Y|LILRB3_ENST00000407860.2_Silent_p.Y372Y|LILRB3_ENST00000245620.9_Silent_p.Y372Y|LILRA6_ENST00000440558.2_Silent_p.Y372Y			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	372	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.Y372Y(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TATGAGCTCCGTACATTGATC	0.567													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19665	0.0		0.0	False		,,,				2504	0.0					uc002qef.1		NA																	1	Substitution - coding silent(1)	p.Y372Y(1)	ovary(1)	skin(2)|ovary(1)	3						c.(1114-1116)TAC>TAT		leukocyte immunoglobulin-like receptor,		G	,	1,4397		0,1,2198	72.0	53.0	60.0		1116,1116	2.7	0.0	19		60	0,8380		0,0,4190	no	coding-synonymous,coding-synonymous	LILRB3	NM_001081450.1,NM_006864.2	,	0,1,6388	AA,AG,GG		0.0,0.0227,0.0078	,	372/633,372/632	54724540	1,12777	2199	4190	6389	SO:0001819	synonymous_variant	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54724540G>A	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1116C>T	19.37:g.54724540G>A						LILRB3_uc002qee.1_Silent_p.Y372Y|LILRB3_uc002qeh.1_Silent_p.Y372Y|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Silent_p.Y372Y|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Silent_p.Y372Y|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Silent_p.Y372Y|LILRB3_uc002qep.1_Silent_p.Y372Y|LILRB3_uc002qeq.1_Silent_p.Y372Y|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Silent_p.Y372Y|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron	p.Y372Y	NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1227	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		372			Extracellular (Potential).|Ig-like C2-type 4.		C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	c.1116C>T	CCDS33105.1																																																																																				0.567	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		20	49	0	0	0	0	20	49				
FAM179A	165186	broad.mit.edu	37	2	29240094	29240094	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:29240094G>A	ENST00000379558.4	+	9	1470	c.1119G>A	c.(1117-1119)cgG>cgA	p.R373R	FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Silent_p.R373R	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	373										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGCTGCTTCGGAGGCTGGAGG	0.577																																						uc010ezl.2		NA																	0				ovary(3)|skin(1)	4						c.(1117-1119)CGG>CGA		hypothetical protein LOC165186							76.0	81.0	80.0					2																	29240094		2001	4182	6183	SO:0001819	synonymous_variant	165186						binding	g.chr2:29240094G>A	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1119G>A	2.37:g.29240094G>A						FAM179A_uc010ymm.1_Silent_p.R373R|FAM179A_uc002rmr.3_Intron	p.R373R	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN			9	1470	+			373					Q6ZUF5	Silent	SNP	ENST00000379558.4	37	c.1119G>A	CCDS1769.2																																																																																				0.577	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		14	76	0	0	0	0	14	76				
SOCS5	9655	broad.mit.edu	37	2	46986940	46986940	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:46986940G>C	ENST00000306503.5	+	2	1443	c.1271G>C	c.(1270-1272)aGa>aCa	p.R424T	SOCS5_ENST00000394861.2_Missense_Mutation_p.R424T	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	424	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CGCTACAACAGATCCCTGCAT	0.517																																						uc002rvf.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1270-1272)AGA>ACA		suppressor of cytokine signaling 5							92.0	91.0	92.0					2																	46986940		2203	4300	6503	SO:0001583	missense	9655				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46986940G>C	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1271G>C	2.37:g.46986940G>C	ENSP00000305133:p.Arg424Thr					SOCS5_uc010yoe.1_Missense_Mutation_p.R393T|SOCS5_uc002rvg.2_Missense_Mutation_p.R424T	p.R424T	NM_014011	NP_054730	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	1435	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	424			SH2.		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.1271G>C	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339972	0.81911	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	D;D	0.88975	-2.45;-2.45	5.43	5.43	0.79202	SH2 motif (4);	0.054456	0.64402	D	0.000001	D	0.93588	0.7953	M	0.64080	1.96	0.80722	D	1	D	0.67145	0.996	D	0.70935	0.971	D	0.93746	0.7054	10	0.87932	D	0	-20.4751	19.0206	0.92912	0.0:0.0:1.0:0.0	.	424	O75159	SOCS5_HUMAN	T	424	ENSP00000305133:R424T;ENSP00000378330:R424T	ENSP00000305133:R424T	R	+	2	0	SOCS5	46840444	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	9.657000	0.98554	2.824000	0.97209	0.655000	0.94253	AGA		0.517	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			16	94	0	0	0	0	16	94				
PDCL3	79031	broad.mit.edu	37	2	101188255	101188255	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:101188255G>C	ENST00000264254.6	+	5	950	c.572G>C	c.(571-573)aGa>aCa	p.R191T		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	191	Thioredoxin fold. {ECO:0000250}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						AACCTGACAAGAGATGGTAAG	0.502																																						uc002tao.2		NA																	0					0						c.(571-573)AGA>ACA		phosducin-like 3							100.0	109.0	106.0					2																	101188255		2203	4300	6503	SO:0001583	missense	79031				apoptosis|interspecies interaction between organisms	cytoplasm	protein binding	g.chr2:101188255G>C	AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.572G>C	2.37:g.101188255G>C	ENSP00000264254:p.Arg191Thr						p.R191T	NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN			5	684	+			191					B2RA00|Q53S68	Missense_Mutation	SNP	ENST00000264254.6	37	c.572G>C	CCDS33261.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.41|11.41	1.630744|1.630744	0.28978|0.28978	.|.	.|.	ENSG00000115539|ENSG00000115539	ENST00000450127|ENST00000264254	.|T	.|0.12569	.|2.67	4.89|4.89	1.75|1.75	0.24633|0.24633	.|Thioredoxin-like fold (2);	.|0.720248	.|0.14337	.|N	.|0.325977	T|T	0.08670|0.08670	0.0215|0.0215	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	0.999998|0.999998	.|B	.|0.22276	.|0.067	.|B	.|0.23852	.|0.049	T|T	0.40757|0.40757	-0.9546|-0.9546	5|10	.|0.14252	.|T	.|0.57	-20.9358|-20.9358	5.2486|5.2486	0.15510|0.15510	0.1599:0.0:0.4959:0.3442|0.1599:0.0:0.4959:0.3442	.|.	.|191	.|Q9H2J4	.|PDCL3_HUMAN	Q|T	139|191	.|ENSP00000264254:R191T	.|ENSP00000264254:R191T	E|R	+|+	1|2	0|0	PDCL3|PDCL3	100554687|100554687	0.120000|0.120000	0.22244|0.22244	0.173000|0.173000	0.22940|0.22940	0.994000|0.994000	0.84299|0.84299	1.346000|1.346000	0.33964|0.33964	0.442000|0.442000	0.26555|0.26555	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.502	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	NM_024065		30	162	0	0	0	0	30	162				
POTEE	445582	broad.mit.edu	37	2	132021797	132021797	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:132021797C>G	ENST00000356920.5	+	15	2863	c.2769C>G	c.(2767-2769)ttC>ttG	p.F923L	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	923	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											CCCTGGACTTCGAGCAGGAGA	0.597																																						uc002tsn.2		NA																	0					0						c.(2767-2769)TTC>TTG		protein expressed in prostate, ovary, testis,							113.0	126.0	122.0					2																	132021797		2202	4295	6497	SO:0001583	missense	445582						ATP binding	g.chr2:132021797C>G	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2769C>G	2.37:g.132021797C>G	ENSP00000439189:p.Phe923Leu					PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.F523L|POTEE_uc002tsl.2_Missense_Mutation_p.F505L|POTEE_uc010fmy.1_Missense_Mutation_p.F387L	p.F923L	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			15	2821	+			923			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.2769C>G	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	15.60	2.882173	0.51908	.	.	ENSG00000188219	ENST00000356920	T	0.07216	3.21	.	.	.	.	.	.	.	.	T	0.08891	0.0220	M	0.81239	2.535	0.80722	D	1	P	0.43412	0.806	B	0.34418	0.182	T	0.16305	-1.0407	8	0.87932	D	0	.	2.6649	0.05041	0.0:0.5123:0.0:0.4877	.	923	Q6S8J3	POTEE_HUMAN	L	923	ENSP00000439189:F923L	ENSP00000439189:F923L	F	+	3	2	AC131180.1	131738267	0.992000	0.36948	0.537000	0.28052	0.542000	0.35054	-0.023000	0.12456	0.119000	0.18210	0.121000	0.15741	TTC		0.597	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		17	383	0	0	0	0	17	383				
GPR39	2863	broad.mit.edu	37	2	133174980	133174980	+	Missense_Mutation	SNP	C	C	T	rs375756316		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:133174980C>T	ENST00000329321.3	+	1	834	c.365C>T	c.(364-366)aCg>aTg	p.T122M		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	122					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGCTACGCTACGCTGCTGCAC	0.572																																						uc002ttl.2		NA																	0					0						c.(364-366)ACG>ATG		G protein-coupled receptor 39		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	134.0	120.0	125.0		365	5.0	1.0	2		125	0,8600		0,0,4300	no	missense	GPR39	NM_001508.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	122/454	133174980	1,13005	2203	4300	6503	SO:0001583	missense	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133174980C>T	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.365C>T	2.37:g.133174980C>T	ENSP00000327417:p.Thr122Met						p.T122M	NM_001508	NP_001499	O43194	GPR39_HUMAN			1	834	+			122			Helical; Name=3; (Potential).		B2RC12|B6V9G4|Q08AS2|Q53R01	Missense_Mutation	SNP	ENST00000329321.3	37	c.365C>T	CCDS2170.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428934	0.83667	2.27E-4	0.0	ENSG00000183840	ENST00000329321	T	0.38240	1.15	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66867	0.2833	M	0.86502	2.82	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.73610	-0.3928	10	0.87932	D	0	.	18.4723	0.90779	0.0:1.0:0.0:0.0	.	122	O43194	GPR39_HUMAN	M	122	ENSP00000327417:T122M	ENSP00000327417:T122M	T	+	2	0	GPR39	132891450	1.000000	0.71417	0.984000	0.44739	0.908000	0.53690	7.631000	0.83237	2.593000	0.87608	0.555000	0.69702	ACG		0.572	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			17	61	0	0	0	0	17	61				
NEB	4703	broad.mit.edu	37	2	152383461	152383461	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:152383461C>A	ENST00000172853.10	-	120	16960	c.16813G>T	c.(16813-16815)Gcc>Tcc	p.A5605S	NEB_ENST00000409198.1_Missense_Mutation_p.A5605S|NEB_ENST00000603639.1_Missense_Mutation_p.A7306S|NEB_ENST00000427231.2_Missense_Mutation_p.A7306S|NEB_ENST00000604864.1_Missense_Mutation_p.A7306S|NEB_ENST00000397345.3_Missense_Mutation_p.A7306S			P20929	NEBU_HUMAN	nebulin	5605					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCCTGAGGGCGAGCACCGTG	0.463																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(16813-16815)GCC>TCC		nebulin isoform 3							111.0	115.0	114.0					2																	152383461		1925	4122	6047	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152383461C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.16813G>T	2.37:g.152383461C>A	ENSP00000172853:p.Ala5605Ser					NEB_uc002txr.2_Missense_Mutation_p.A2028S|NEB_uc002txt.3_Missense_Mutation_p.A110S	p.A5605S	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	120	17004	-			5605			Nebulin 153.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.16813G>T		.	.	.	.	.	.	.	.	.	.	C	23.0	4.366831	0.82463	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.09911	3.21;3.14;3.12;2.93;3.21	5.98	5.98	0.97165	.	0.098719	0.64402	D	0.000002	T	0.35248	0.0925	M	0.73217	2.22	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.77004	0.964;0.989;0.988	T	0.00317	-1.1822	10	0.40728	T	0.16	.	20.4434	0.99119	0.0:1.0:0.0:0.0	.	5605;7306;2036	P20929;F8WCP0;Q14215	NEBU_HUMAN;.;.	S	5605;7306;7306;1654;2036;5605	ENSP00000386259:A5605S;ENSP00000380505:A7306S;ENSP00000416578:A7306S;ENSP00000410961:A2036S;ENSP00000172853:A5605S	ENSP00000172853:A5605S	A	-	1	0	NEB	152091707	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.412000	0.59787	2.838000	0.97847	0.655000	0.94253	GCC		0.463	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		4	20	1	0	4.1e-09	4.55e-09	4	20				
TTN	7273	broad.mit.edu	37	2	179529384	179529384	+	Intron	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:179529384C>A	ENST00000591111.1	-	153	34489				TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E12067*|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			GATATACCTTCATCAGGAAGG	0.378																																						uc010zfk.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.(637-639)GAA>TAA		SubName: Full=Titin; Flags: Fragment;							57.0	55.0	55.0					2																	179529384		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179529384C>A	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.34264+5560G>T	2.37:g.179529384C>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	p.E213*			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		12	1185	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.637G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.848759|4.848759	0.91277|0.91277	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000541862;ENST00000392423|ENST00000425332	.|.	.|.	.|.	5.53|5.53	3.63|3.63	0.41609|0.41609	.|.	.|.	.|.	.|.	.|.	.|T	.|0.27663	.|0.0680	.|.	.|.	.|.	0.24173|0.24173	N|N	0.995617|0.995617	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.15780	.|-1.0425	.|4	0.02654|.	T|.	1|.	.|.	5.2429|5.2429	0.15481|0.15481	0.1365:0.579:0.2043:0.0802|0.1365:0.579:0.2043:0.0802	.|.	.|.	.|.	.|.	X|I	341;193|130	.|.	ENSP00000376219:E193X|.	E|M	-|-	1|3	0|0	TTN|TTN	179237629|179237629	0.836000|0.836000	0.29430|0.29430	0.923000|0.923000	0.36655|0.36655	0.967000|0.967000	0.64934|0.64934	1.314000|1.314000	0.33597|0.33597	1.477000|1.477000	0.48234|0.48234	0.650000|0.650000	0.86243|0.86243	GAA|ATG		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	69	1	0	4.69e-08	5.17e-08	11	69				
TTN	7273	broad.mit.edu	37	2	179611406	179611406	+	Intron	SNP	C	C	G	rs147119153		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:179611406C>G	ENST00000591111.1	-	46	10585				TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.E5241Q|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)	p.E5241K(1)		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)			TTAGAAATTTCCAGTGAACAC	0.393																																						uc002unb.2		NA																	1	Substitution - Missense(1)	p.E5241K(1)	skin(1)	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.(15721-15723)GAA>CAA		titin isoform novex-3							136.0	130.0	132.0					2																	179611406		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611406C>G	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.10361-4758G>C	2.37:g.179611406C>G						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.E5241Q	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15945	-			8760					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.15721G>C		.	.	.	.	.	.	.	.	.	.	C	16.11	3.029633	0.54790	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.67698	-0.28	5.95	5.95	0.96441	.	.	.	.	.	T	0.74703	0.3751	L	0.52905	1.665	0.80722	D	1	P	0.44090	0.826	P	0.55011	0.766	T	0.65459	-0.6163	9	0.12430	T	0.62	.	20.3854	0.98941	0.0:1.0:0.0:0.0	.	5241	Q8WZ42-6	.	Q	5241;522	ENSP00000354117:E5241Q	ENSP00000304714:E522Q	E	-	1	0	TTN	179319651	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	3.100000	0.50275	2.825000	0.97269	0.655000	0.94253	GAA		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	155	0	0	0	0	10	155				
TTN	7273	broad.mit.edu	37	2	179611715	179611715	+	Intron	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:179611715C>T	ENST00000591111.1	-	46	10585				TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.E5138K|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			TCTTCCCTTTCTATTTTTGAT	0.443																																						uc002unb.2		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.(15412-15414)GAA>AAA		titin isoform novex-3							118.0	117.0	118.0					2																	179611715		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611715C>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.10361-5067G>A	2.37:g.179611715C>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.E5138K	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15636	-			1039					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.15412G>A		.	.	.	.	.	.	.	.	.	.	C	14.65	2.599917	0.46318	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.57107	0.42	6.06	4.22	0.49857	.	.	.	.	.	T	0.34629	0.0904	N	0.24115	0.695	0.80722	D	1	B	0.31548	0.328	B	0.28011	0.085	T	0.08889	-1.0700	9	0.07813	T	0.8	.	14.3658	0.66805	0.0:0.7467:0.2533:0.0	.	5138	Q8WZ42-6	.	K	5138;419	ENSP00000354117:E5138K	ENSP00000304714:E419K	E	-	1	0	TTN	179319960	0.000000	0.05858	0.957000	0.39632	0.445000	0.32107	0.700000	0.25601	0.852000	0.35287	0.655000	0.94253	GAA		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		36	141	0	0	0	0	36	141				
AOX1	316	broad.mit.edu	37	2	201485524	201485524	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:201485524G>C	ENST00000374700.2	+	17	2097	c.1856G>C	c.(1855-1857)aGa>aCa	p.R619T	AOX1_ENST00000485106.1_Intron	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	619					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ACTAGTTCAAGAGCTCATGCT	0.423																																						uc002uvx.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(1855-1857)AGA>ACA		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						125.0	115.0	118.0					2																	201485524		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201485524G>C	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1856G>C	2.37:g.201485524G>C	ENSP00000363832:p.Arg619Thr					AOX1_uc010zhf.1_Missense_Mutation_p.R175T|AOX1_uc010fsu.2_Intron	p.R619T	NM_001159	NP_001150	Q06278	ADO_HUMAN			17	1957	+			619					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.1856G>C	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.358623	0.61403	.	.	ENSG00000138356	ENST00000374700	T	0.11712	2.75	5.07	5.07	0.68467	Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead (3);	0.050677	0.85682	D	0.000000	T	0.25195	0.0612	M	0.74647	2.275	0.39348	D	0.965705	P	0.44195	0.828	P	0.54590	0.756	T	0.00834	-1.1547	10	0.87932	D	0	-32.9771	9.3312	0.38023	0.1566:0.0:0.8434:0.0	.	619	Q06278	ADO_HUMAN	T	619	ENSP00000363832:R619T	ENSP00000363832:R619T	R	+	2	0	AOX1	201193769	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.438000	0.35002	2.638000	0.89438	0.655000	0.94253	AGA		0.423	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		9	35	0	0	0	0	9	35				
CASP8	841	broad.mit.edu	37	2	202131505	202131505	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:202131505C>T	ENST00000432109.2	+	3	485	c.296C>T	c.(295-297)tCt>tTt	p.S99F	CASP8_ENST00000358485.4_Missense_Mutation_p.S158F|CASP8_ENST00000392258.3_Missense_Mutation_p.S99F|CASP8_ENST00000392259.2_Missense_Mutation_p.S99F|CASP8_ENST00000264275.5_Missense_Mutation_p.S99F|CASP8_ENST00000392266.3_Missense_Mutation_p.S99F|CASP8_ENST00000264274.9_Missense_Mutation_p.S99F|CASP8_ENST00000323492.7_Missense_Mutation_p.S99F	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	99					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTCAAATTTCTGCCTACAGG	0.493										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(295-297)TCT>TTT		caspase 8 isoform B precursor							40.0	38.0	39.0					2																	202131505		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202131505C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.296C>T	2.37:g.202131505C>T	ENSP00000412523:p.Ser99Phe	HNSCC(4;0.00038)				CASP8_uc010ftc.1_Missense_Mutation_p.S99F|CASP8_uc002uxo.1_Missense_Mutation_p.S99F|CASP8_uc002uxp.1_Missense_Mutation_p.S99F|CASP8_uc002uxq.1_Missense_Mutation_p.S99F|CASP8_uc002uxs.1_Missense_Mutation_p.S99F|CASP8_uc002uxt.1_Missense_Mutation_p.S158F|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.S99F|CASP8_uc002uxw.1_Missense_Mutation_p.S99F|CASP8_uc002uxy.1_Missense_Mutation_p.S99F|CASP8_uc002uxx.1_Missense_Mutation_p.S99F|CASP8_uc010ftf.2_Missense_Mutation_p.S99F	p.S99F	NM_033355	NP_203519	Q14790	CASP8_HUMAN			3	505	+			99					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.296C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918557	0.73098	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	D;D;D;D;D;D;D;D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.58	4.68	0.58851	DEATH-like (2);Death effector (1);	0.906644	0.09635	N	0.775819	D	0.93125	0.7811	M	0.83312	2.635	0.39146	D	0.962147	D;P;D;D;D;D;D;D;P	0.89917	0.999;0.553;0.996;0.968;1.0;0.972;0.995;1.0;0.95	D;B;P;P;D;D;D;D;P	0.87578	0.986;0.241;0.876;0.643;0.998;0.913;0.956;0.996;0.515	D	0.90193	0.4251	10	0.56958	D	0.05	.	14.6739	0.68964	0.1463:0.8537:0.0:0.0	.	99;99;99;99;158;99;99;99;99	Q14790-3;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;CASP8_HUMAN;.;.;.	F	99;99;99;99;99;99;99;99;99;158;99;99;99;99	ENSP00000376091:S99F;ENSP00000264274:S99F;ENSP00000376088:S99F;ENSP00000376094:S99F;ENSP00000412523:S99F;ENSP00000264275:S99F;ENSP00000396869:S99F;ENSP00000376087:S99F;ENSP00000388306:S99F;ENSP00000351273:S158F;ENSP00000397528:S99F;ENSP00000325722:S99F;ENSP00000390641:S99F	ENSP00000264274:S99F	S	+	2	0	CASP8	201839750	0.997000	0.39634	1.000000	0.80357	0.921000	0.55340	3.941000	0.56607	1.301000	0.44836	0.561000	0.74099	TCT		0.493	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		5	42	0	0	0	0	5	42				
ARPC2	10109	broad.mit.edu	37	2	219082227	219082227	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:219082227G>A	ENST00000295685.10	+	1	295	c.34G>A	c.(34-36)Gag>Aag	p.E12K	ARPC2_ENST00000315717.5_Missense_Mutation_p.E12K	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	12					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		CCGCATCATCGAGGAGACGCT	0.687																																						uc002vhd.2		NA																	0				ovary(1)	1						c.(34-36)GAG>AAG		actin related protein 2/3 complex subunit 2							23.0	25.0	24.0					2																	219082227		2203	4296	6499	SO:0001583	missense	10109				cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	g.chr2:219082227G>A	AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.34G>A	2.37:g.219082227G>A	ENSP00000295685:p.Glu12Lys					ARPC2_uc002vhe.2_Missense_Mutation_p.E12K	p.E12K	NM_152862	NP_690601	O15144	ARPC2_HUMAN		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)	2	146	+		Renal(207;0.0474)	12					Q92801|Q9P1D4	Missense_Mutation	SNP	ENST00000295685.10	37	c.34G>A	CCDS2410.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685727	0.68157	.	.	ENSG00000163466	ENST00000315717;ENST00000420104;ENST00000295685	.	.	.	5.45	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	M	0.70903	2.155	0.58432	D	0.999996	B	0.21071	0.051	B	0.15870	0.014	T	0.59418	-0.7458	9	0.41790	T	0.15	.	12.277	0.54741	0.0786:0.0:0.9214:0.0	.	12	O15144	ARPC2_HUMAN	K	12	.	ENSP00000295685:E12K	E	+	1	0	ARPC2	218790472	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.270000	0.78493	1.543000	0.49345	0.591000	0.81541	GAG		0.687	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256777.2	NM_005731		6	36	0	0	0	0	6	36				
NMUR1	10316	broad.mit.edu	37	2	232392867	232392867	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr2:232392867C>T	ENST00000305141.4	-	2	998	c.865G>A	c.(865-867)Gat>Aat	p.D289N		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	289					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGGCCCCGATCGTGCTGCTGG	0.652																																						uc002vry.3		NA																	0				lung(3)|central_nervous_system(1)|pancreas(1)	5						c.(865-867)GAT>AAT		neuromedin U receptor 1							51.0	50.0	50.0					2																	232392867		2203	4300	6503	SO:0001583	missense	10316				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	g.chr2:232392867C>T	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.865G>A	2.37:g.232392867C>T	ENSP00000305877:p.Asp289Asn						p.D289N	NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	2	975	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	289			Cytoplasmic (Potential).		O43664|Q7LDP6|Q8NE20	Missense_Mutation	SNP	ENST00000305141.4	37	c.865G>A	CCDS2486.1	.	.	.	.	.	.	.	.	.	.	C	8.734	0.917288	0.17982	.	.	ENSG00000171596	ENST00000305141	T	0.71817	-0.6	4.52	0.151	0.14888	GPCR, rhodopsin-like superfamily (1);	2.097090	0.02062	N	0.050854	T	0.52933	0.1765	N	0.17474	0.49	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.32981	-0.9886	10	0.17832	T	0.49	-0.4612	6.0023	0.19527	0.0:0.4881:0.2778:0.2341	.	289	Q9HB89	NMUR1_HUMAN	N	289	ENSP00000305877:D289N	ENSP00000305877:D289N	D	-	1	0	NMUR1	232101111	0.002000	0.14202	0.000000	0.03702	0.083000	0.17756	0.469000	0.22067	0.333000	0.23563	0.306000	0.20318	GAT		0.652	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		11	74	0	0	0	0	11	74				
ACSS1	84532	broad.mit.edu	37	20	24989982	24989982	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr20:24989982G>C	ENST00000323482.4	-	13	1893	c.1814C>G	c.(1813-1815)tCa>tGa	p.S605*	ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000484396.1_5'UTR|ACSS1_ENST00000537502.1_Nonsense_Mutation_p.S522*|ACSS1_ENST00000542618.1_Nonsense_Mutation_p.S484*	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	605					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACCACATCTGAGTCACCCGC	0.502																																						uc002wub.2		NA																	0				ovary(1)|skin(1)	2						c.(1813-1815)TCA>TGA		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						238.0	209.0	219.0					20																	24989982		2203	4300	6503	SO:0001587	stop_gained	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:24989982G>C		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1814C>G	20.37:g.24989982G>C	ENSP00000316924:p.Ser605*					ACSS1_uc002wuc.2_Nonsense_Mutation_p.S603*|ACSS1_uc010gdc.2_Nonsense_Mutation_p.S400*|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Nonsense_Mutation_p.S522*	p.S605*	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN			13	2692	-			605					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Nonsense_Mutation	SNP	ENST00000323482.4	37	c.1814C>G	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	G	38	6.876949	0.97904	.	.	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000537502;ENST00000542618	.	.	.	4.79	2.8	0.32819	.	1.507100	0.03734	N	0.254008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.1623	6.1049	0.20067	0.1675:0.0:0.68:0.1525	.	.	.	.	X	605;400;522;484	.	ENSP00000316924:S605X	S	-	2	0	ACSS1	24937982	0.000000	0.05858	0.000000	0.03702	0.451000	0.32288	0.479000	0.22228	0.434000	0.26340	0.561000	0.74099	TCA		0.502	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		36	190	0	0	0	0	36	190				
UBASH3A	53347	broad.mit.edu	37	21	43862566	43862566	+	Silent	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr21:43862566C>G	ENST00000319294.6	+	12	1522	c.1491C>G	c.(1489-1491)ctC>ctG	p.L497L	UBASH3A_ENST00000291535.6_Silent_p.L459L|UBASH3A_ENST00000398367.1_Silent_p.L459L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	497	Phosphatase-like.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.L497L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ATCCAGAACTCAAACTGGAGA	0.428																																						uc002zbe.2		NA																	1	Substitution - coding silent(1)		breast(1)	ovary(3)	3						c.(1489-1491)CTC>CTG		ubiquitin associated and SH3 domain containing,							105.0	107.0	106.0					21																	43862566		2203	4300	6503	SO:0001819	synonymous_variant	53347					cytosol|nucleus		g.chr21:43862566C>G	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1491C>G	21.37:g.43862566C>G						UBASH3A_uc002zbf.2_Silent_p.L459L|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Silent_p.L459L	p.L497L	NM_018961	NP_061834	P57075	UBS3A_HUMAN			12	1527	+			497			Phosphatase-like.		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Silent	SNP	ENST00000319294.6	37	c.1491C>G	CCDS13687.1																																																																																				0.428	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		19	113	0	0	0	0	19	113				
DGCR6L	85359	broad.mit.edu	37	22	20307265	20307265	+	Silent	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr22:20307265G>C	ENST00000248879.3	-	2	259	c.168C>G	c.(166-168)ctC>ctG	p.L56L	DGCR6L_ENST00000405465.3_Missense_Mutation_p.S52W|XXbac-B444P24.13_ENST00000608275.1_RNA|XXbac-B444P24.14_ENST00000609632.1_lincRNA	NM_033257.3	NP_150282.2	Q9BY27	DGC6L_HUMAN	DiGeorge syndrome critical region gene 6-like	56						nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(2)|stomach(1)	5	Colorectal(54;0.0993)					CGGTGCCGTCGAGAAGCGCCA	0.652																																						uc002zrx.2		NA																	0					0						c.(166-168)CTC>CTG		DiGeorge syndrome critical region gene 6 like							30.0	27.0	28.0					22																	20307265		2203	4299	6502	SO:0001819	synonymous_variant	85359					nucleus		g.chr22:20307265G>C	AF228708	CCDS13778.1	22q11.21	2013-02-19			ENSG00000128185	ENSG00000128185			18551	protein-coding gene	gene with protein product		609459				11157784	Standard	NM_033257		Approved	FLJ10666	uc002zrx.3	Q9BY27	OTTHUMG00000150583	ENST00000248879.3:c.168C>G	22.37:g.20307265G>C						DGCR6L_uc010gsb.2_RNA|DGCR6L_uc010gsc.2_Silent_p.L56L	p.L56L	NM_033257	NP_150282	Q9BY27	DGC6L_HUMAN			2	265	-	Colorectal(54;0.0993)		56					A8K1N7|B3KMC0|D3DX29|Q9BW33	Silent	SNP	ENST00000248879.3	37	c.168C>G	CCDS13778.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.802852	0.50315	.	.	ENSG00000128185	ENST00000405465	T	0.36520	1.25	1.83	0.725	0.18242	.	.	.	.	.	T	0.31167	0.0788	.	.	.	0.27219	N	0.959718	.	.	.	.	.	.	T	0.34204	-0.9838	6	0.72032	D	0.01	-18.9358	3.0847	0.06273	0.1798:0.2941:0.5261:0.0	.	.	.	.	W	52	ENSP00000386052:S52W	ENSP00000386052:S52W	S	-	2	0	DGCR6L	18687265	0.951000	0.32395	0.998000	0.56505	0.928000	0.56348	-0.040000	0.12104	0.301000	0.22738	0.306000	0.20318	TCG		0.652	DGCR6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318970.3	NM_033257		6	22	0	0	0	0	6	22				
CSNK1E	1454	broad.mit.edu	37	22	38698935	38698935	+	Silent	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr22:38698935G>C	ENST00000396832.1	-	4	527	c.267C>G	c.(265-267)ctC>ctG	p.L89L	CSNK1E_ENST00000405675.3_Silent_p.L89L|CSNK1E_ENST00000413574.2_Silent_p.L89L|CSNK1E_ENST00000359867.3_Silent_p.L89L|CSNK1E_ENST00000498529.1_5'Flank|CSNK1E_ENST00000400206.2_Silent_p.L89L|CSNK1E_ENST00000403904.1_Silent_p.L89L	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	89	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					ACAGGTCCTCGAGGCTAGGCC	0.622																																					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	uc003avj.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(265-267)CTC>CTG		casein kinase 1 epsilon							113.0	99.0	104.0					22																	38698935		2203	4300	6503	SO:0001819	synonymous_variant	1454				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:38698935G>C		CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.267C>G	22.37:g.38698935G>C						CSNK1E_uc003avk.2_Silent_p.L89L|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Silent_p.L89L|CSNK1E_uc003avo.2_Silent_p.L89L|CSNK1E_uc003avp.1_Silent_p.L89L|CSNK1E_uc003avq.1_Silent_p.L89L|LOC400927_uc010gxm.2_RNA	p.L89L	NM_152221	NP_689407	P49674	KC1E_HUMAN			4	528	-	Melanoma(58;0.045)		89			Protein kinase.			Silent	SNP	ENST00000396832.1	37	c.267C>G	CCDS13970.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.391300	0.25118	.	.	ENSG00000213923	ENST00000451964	.	.	.	5.05	-10.1	0.00402	.	.	.	.	.	T	0.47673	0.1458	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58803	-0.7572	4	.	.	.	.	9.6425	0.39848	0.1461:0.643:0.1331:0.0778	.	.	.	.	W	27	.	.	S	-	2	0	CSNK1E	37028881	0.983000	0.35010	0.893000	0.35052	0.936000	0.57629	0.293000	0.19029	-1.235000	0.02545	-0.372000	0.07161	TCG		0.622	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894		16	89	0	0	0	0	16	89				
EP300	2033	broad.mit.edu	37	22	41556666	41556666	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr22:41556666G>A	ENST00000263253.7	+	20	4830	c.3611G>A	c.(3610-3612)tGt>tAt	p.C1204Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1204					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.Y1198_L1243del(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGTGAGAAGTGTTTCAATGAG	0.468			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NA		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		1	Deletion - In frame(1)	p.Y1198_L1243del(1)	breast(1)	haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(3610-3612)TGT>TAT		E1A binding protein p300							150.0	121.0	131.0					22																	41556666		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41556666G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3611G>A	22.37:g.41556666G>A	ENSP00000263253:p.Cys1204Tyr						p.C1204Y	NM_001429	NP_001420	Q09472	EP300_HUMAN			20	4006	+			1204					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.3611G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820042	0.71028	.	.	ENSG00000100393	ENST00000263253	D	0.94000	-3.33	5.51	5.51	0.81932	.	0.000000	0.53938	D	0.000059	D	0.97620	0.9220	M	0.93062	3.375	0.58432	D	0.999999	D	0.71674	0.998	D	0.80764	0.994	D	0.98310	1.0523	10	0.87932	D	0	-5.004	19.4278	0.94751	0.0:0.0:1.0:0.0	.	1204	Q09472	EP300_HUMAN	Y	1204	ENSP00000263253:C1204Y	ENSP00000263253:C1204Y	C	+	2	0	EP300	39886612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.595000	0.87683	0.557000	0.71058	TGT		0.468	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		19	85	0	0	0	0	19	85				
CLEC3B	7123	broad.mit.edu	37	3	45077267	45077267	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:45077267T>C	ENST00000296130.4	+	3	640	c.460T>C	c.(460-462)Tac>Cac	p.Y154H	RNU5B-3P_ENST00000516601.1_RNA|CLEC3B_ENST00000428034.1_Missense_Mutation_p.Y112H|CLEC3B_ENST00000490386.1_3'UTR	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	154	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cellular response to organic substance (GO:0071310)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ossification (GO:0001503)|positive regulation of plasminogen activation (GO:0010756)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)|kringle domain binding (GO:0036143)			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Tenecteplase(DB00031)	CCGCATCGCCTACAAGAACTG	0.667																																					GBM(139;1487 3263 30871)	uc003cok.3		NA																	0					0						c.(460-462)TAC>CAC		C-type lectin domain family 3, member B	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						41.0	42.0	42.0					3																	45077267		2203	4300	6503	SO:0001583	missense	7123				skeletal system development	extracellular space	protein binding|sugar binding	g.chr3:45077267T>C		CCDS2726.1	3p22-p21.3	2010-04-27	2005-02-09	2005-02-09	ENSG00000163815	ENSG00000163815		"""C-type lectin domain containing"""	11891	protein-coding gene	gene with protein product		187520	"""tetranectin (plasminogen binding protein)"""	TNA			Standard	NM_003278		Approved	TN	uc003cok.4	P05452	OTTHUMG00000133087	ENST00000296130.4:c.460T>C	3.37:g.45077267T>C	ENSP00000296130:p.Tyr154His					CLEC3B_uc003col.2_Missense_Mutation_p.Y112H	p.Y154H	NM_003278	NP_003269	P05452	TETN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	3	556	+			154			C-type lectin.		Q6FGX6	Missense_Mutation	SNP	ENST00000296130.4	37	c.460T>C	CCDS2726.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.581449	0.86748	.	.	ENSG00000163815	ENST00000296130;ENST00000428034	T;T	0.37915	1.17;1.17	4.38	4.38	0.52667	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.290015	0.34046	N	0.004301	T	0.73791	0.3632	H	0.98276	4.19	0.51767	D	0.999932	D	0.71674	0.998	D	0.79108	0.992	D	0.84644	0.0697	10	0.87932	D	0	-18.35	13.8629	0.63571	0.0:0.0:0.0:1.0	.	154	P05452	TETN_HUMAN	H	154;112	ENSP00000296130:Y154H;ENSP00000396013:Y112H	ENSP00000296130:Y154H	Y	+	1	0	CLEC3B	45052271	1.000000	0.71417	0.972000	0.41901	0.983000	0.72400	5.850000	0.69473	1.743000	0.51761	0.459000	0.35465	TAC		0.667	CLEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256745.1	NM_003278		3	73	0	0	0	0	3	73				
MST1R	4486	broad.mit.edu	37	3	49927421	49927421	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:49927421C>T	ENST00000296474.3	-	19	3910	c.3883G>A	c.(3883-3885)Gac>Aac	p.D1295N	MST1R_ENST00000344206.4_Missense_Mutation_p.D1246N	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGGGTAAGGTCAAAAGGGTCA	0.602																																						uc003cxy.3		NA																	0				ovary(5)|lung(1)	6						c.(3883-3885)GAC>AAC		macrophage stimulating 1 receptor precursor							111.0	106.0	107.0					3																	49927421		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49927421C>T	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3883G>A	3.37:g.49927421C>T	ENSP00000296474:p.Asp1295Asn					MST1R_uc011bdc.1_Missense_Mutation_p.D174N	p.D1295N	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	19	4147	-			1295			Cytoplasmic (Potential).|Protein kinase.		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.3883G>A	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	C	36	5.858701	0.97036	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	D;D	0.82803	-1.65;-1.65	5.91	5.91	0.95273	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87537	0.6202	L	0.28608	0.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88302	0.2950	10	0.87932	D	0	-37.6582	19.9134	0.97033	0.0:1.0:0.0:0.0	.	1295	Q04912	RON_HUMAN	N	1295;1246	ENSP00000296474:D1295N;ENSP00000341325:D1246N	ENSP00000296474:D1295N	D	-	1	0	MST1R	49902425	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.532000	0.81985	2.806000	0.96561	0.549000	0.68633	GAC		0.602	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			11	83	0	0	0	0	11	83				
DNAH1	25981	broad.mit.edu	37	3	52394093	52394093	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:52394093G>A	ENST00000420323.2	+	27	4830	c.4569G>A	c.(4567-4569)ctG>ctA	p.L1523L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1523	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCTCACAGCTGAGGTGAGGAC	0.562																																						uc011bef.1		NA																	0				large_intestine(3)	3						c.(4567-4569)CTG>CTA		dynein, axonemal, heavy chain 1							87.0	90.0	89.0					3																	52394093		2096	4214	6310	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52394093G>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4569G>A	3.37:g.52394093G>A							p.L1523L	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	27	4830	+			1523			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.4569G>A	CCDS46842.1																																																																																				0.562	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		20	93	0	0	0	0	20	93				
CCDC66	285331	broad.mit.edu	37	3	56605280	56605280	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:56605280G>A	ENST00000394672.3	+	7	956	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	CCDC66_ENST00000326595.7_Missense_Mutation_p.E262K|CCDC66_ENST00000436465.2_Missense_Mutation_p.E296K	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	296					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAAAAAATCTGAAAGTGATAA	0.269																																						uc003dhz.2		NA																	0				breast(1)	1						c.(886-888)GAA>AAA		coiled-coil domain containing 66 isoform 1							43.0	50.0	48.0					3																	56605280		2187	4286	6473	SO:0001583	missense	285331							g.chr3:56605280G>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.886G>A	3.37:g.56605280G>A	ENSP00000378167:p.Glu296Lys					CCDC66_uc003dhy.2_5'UTR|CCDC66_uc003dhu.2_Missense_Mutation_p.E262K|CCDC66_uc003dhx.2_RNA	p.E296K	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	7	973	+			296					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.886G>A	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035601	0.75617	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.23950	1.88;1.92;1.92;1.92	5.6	5.6	0.85130	.	0.289744	0.32987	N	0.005408	T	0.37128	0.0992	L	0.60455	1.87	0.80722	D	1	P	0.50156	0.932	P	0.49192	0.602	T	0.02020	-1.1228	10	0.35671	T	0.21	-10.7271	18.1499	0.89671	0.0:0.0:1.0:0.0	.	296	A2RUB6	CCD66_HUMAN	K	296;296;262;296	ENSP00000401451:E296K;ENSP00000378167:E296K;ENSP00000326050:E262K;ENSP00000404320:E296K	ENSP00000326050:E262K	E	+	1	0	CCDC66	56580320	0.994000	0.37717	1.000000	0.80357	0.965000	0.64279	5.904000	0.69886	2.786000	0.95864	0.561000	0.74099	GAA		0.269	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		15	89	0	0	0	0	15	89				
ROBO2	6092	broad.mit.edu	37	3	77666886	77666886	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:77666886G>C	ENST00000461745.1	+	22	4416	c.3516G>C	c.(3514-3516)ttG>ttC	p.L1172F	ROBO2_ENST00000332191.8_Missense_Mutation_p.L1172F|ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000487694.3_Missense_Mutation_p.L1188F	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1172					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGGATGAGTTGACAAGAGCCT	0.433																																						uc003dpy.3		NA																	0				lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(3514-3516)TTG>TTC		roundabout, axon guidance receptor, homolog 2							75.0	72.0	73.0					3																	77666886		1953	4161	6114	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77666886G>C	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3516G>C	3.37:g.77666886G>C	ENSP00000417164:p.Leu1172Phe					ROBO2_uc003dpz.2_Missense_Mutation_p.L1176F|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.L1176F|ROBO2_uc003dqa.2_Missense_Mutation_p.L299F	p.L1172F	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	22	4159	+			1172			Cytoplasmic (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.3516G>C	CCDS43109.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.63|16.63|16.63	3.178058|3.178058|3.178058	0.57692|0.57692|0.57692	.|.|.	.|.|.	ENSG00000185008|ENSG00000185008|ENSG00000185008	ENST00000475334|ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191|ENST00000490991	.|T;T;T|.	.|0.66995|.	.|-0.24;-0.2;-0.19|.	5.36|5.36|5.36	3.53|3.53|3.53	0.40419|0.40419|0.40419	.|.|.	.|0.000000|.	.|0.36338|.	.|N|.	.|0.002654|.	T|T|.	0.45175|0.45175|.	0.1329|0.1329|.	L|L|L	0.50333|0.50333|0.50333	1.59|1.59|1.59	.|0.30592|.	.|N|.	.|0.761444|.	.|D;D;D|.	.|0.89917|.	.|0.998;1.0;0.998|.	.|D;D;D|.	.|0.85130|.	.|0.991;0.997;0.991|.	T|T|.	0.53107|0.53107|.	-0.8485|-0.8485|.	4|9|.	.|0.52906|.	.|T|.	.|0.07|.	.|.|.	6.0354|6.0354|6.0354	0.19704|0.19704|0.19704	0.2305:0.1425:0.627:0.0|0.2305:0.1425:0.627:0.0|0.2305:0.1425:0.627:0.0	.|.|.	.|1188;1172;1172|.	.|Q19AB5;F8W703;Q9HCK4|.	.|.;.;ROBO2_HUMAN|.	H|F|S	4|1188;1188;1172;1172|329	.|ENSP00000417335:L1188F;ENSP00000417164:L1172F;ENSP00000327536:L1172F|.	.|ENSP00000327536:L1172F|.	D|L|X	+|+|+	1|3|2	0|2|2	ROBO2|ROBO2|ROBO2	77749576|77749576|77749576	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.966000|0.966000|0.966000	0.64601|0.64601|0.64601	2.039000|2.039000|2.039000	0.41193|0.41193|0.41193	0.603000|0.603000|0.603000	0.29913|0.29913|0.29913	-0.175000|-0.175000|-0.175000	0.13238|0.13238|0.13238	GAC|TTG|TGA		0.433	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		10	65	0	0	0	0	10	65				
ROBO1	6091	broad.mit.edu	37	3	78656171	78656171	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:78656171G>A	ENST00000464233.1	-	29	4569	c.4456C>T	c.(4456-4458)Ccg>Tcg	p.P1486S	ROBO1_ENST00000467549.1_Missense_Mutation_p.P1386S|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000436010.2_Missense_Mutation_p.P1447S|ROBO1_ENST00000495273.1_Missense_Mutation_p.P1441S	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1486					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GCAGGTGGCGGCACAGGAGGT	0.423																																						uc003dqe.2		NA																	0				large_intestine(2)	2						c.(4456-4458)CCG>TCG		roundabout 1 isoform a							91.0	87.0	89.0					3																	78656171		1998	4170	6168	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78656171G>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4456C>T	3.37:g.78656171G>A	ENSP00000420321:p.Pro1486Ser					ROBO1_uc003dqb.2_Missense_Mutation_p.P1447S|ROBO1_uc003dqc.2_Missense_Mutation_p.P1386S|ROBO1_uc003dqd.2_Missense_Mutation_p.P1441S|ROBO1_uc010hoh.2_Missense_Mutation_p.P678S|ROBO1_uc011bgl.1_Missense_Mutation_p.P1058S	p.P1486S	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	29	4664	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1486			Cytoplasmic (Potential).		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.4456C>T	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618064	0.28801	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.69926	-0.28;-0.32;-0.44;-0.35	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.73745	0.3626	L	0.29908	0.895	0.58432	D	0.999998	D;B;B;B;B	0.67145	0.996;0.16;0.402;0.019;0.425	D;B;B;B;B	0.75484	0.986;0.028;0.1;0.022;0.057	T	0.71318	-0.4629	9	.	.	.	.	19.2162	0.93780	0.0:0.0:1.0:0.0	.	1450;1486;1441;1386;1447	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	S	1447;1441;1486;1441;1386;1490	ENSP00000406043:P1447S;ENSP00000420321:P1486S;ENSP00000420637:P1441S;ENSP00000417992:P1386S	.	P	-	1	0	ROBO1	78738861	1.000000	0.71417	1.000000	0.80357	0.162000	0.22319	7.378000	0.79679	2.613000	0.88420	0.485000	0.47835	CCG		0.423	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		4	75	0	0	0	0	4	75				
DRD3	1814	broad.mit.edu	37	3	113850003	113850003	+	Missense_Mutation	SNP	C	C	A	rs370774588		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:113850003C>A	ENST00000460779.1	-	7	1257	c.968G>T	c.(967-969)cGg>cTg	p.R323L	DRD3_ENST00000467632.1_Missense_Mutation_p.R323L|DRD3_ENST00000295881.7_Missense_Mutation_p.R290L|DRD3_ENST00000383673.2_Missense_Mutation_p.R323L	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	323					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTTCTTCTCCCGAAGTGGCAC	0.512																																						uc003ebd.2		NA																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(967-969)CGG>CTG		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						95.0	86.0	89.0					3																	113850003		2203	4300	6503	SO:0001583	missense	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113850003C>A		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.968G>T	3.37:g.113850003C>A	ENSP00000419402:p.Arg323Leu					DRD3_uc010hqn.1_Missense_Mutation_p.R323L|DRD3_uc003ebb.1_Missense_Mutation_p.R290L|DRD3_uc003ebc.1_Missense_Mutation_p.R323L	p.R323L	NM_000796	NP_000787	P35462	DRD3_HUMAN			7	1391	-			323			Cytoplasmic.		A1A4V5|Q4VBM8	Missense_Mutation	SNP	ENST00000460779.1	37	c.968G>T	CCDS2978.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294652	0.81025	.	.	ENSG00000151577	ENST00000460779;ENST00000467632;ENST00000383673;ENST00000295881	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	5.52	5.52	0.82312	GPCR, rhodopsin-like superfamily (1);	0.075517	0.51477	D	0.000095	D	0.85708	0.5759	M	0.90369	3.11	0.43430	D	0.995596	D;D;D;D	0.69078	0.99;0.99;0.99;0.997	D;D;D;D	0.74348	0.95;0.95;0.95;0.983	D	0.87643	0.2523	10	0.87932	D	0	.	12.552	0.56231	0.0:0.924:0.0:0.076	.	323;323;323;290	A1A4V4;A8K8E4;P35462;E9PCM4	.;.;DRD3_HUMAN;.	L	323;323;323;290	ENSP00000419402:R323L;ENSP00000420662:R323L;ENSP00000373169:R323L;ENSP00000295881:R290L	ENSP00000295881:R290L	R	-	2	0	DRD3	115332693	0.996000	0.38824	0.997000	0.53966	0.825000	0.46686	4.333000	0.59285	2.866000	0.98385	0.650000	0.86243	CGG		0.512	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		22	109	1	0	7.42e-09	8.22e-09	22	109				
ACPP	55	broad.mit.edu	37	3	132047150	132047150	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:132047150C>A	ENST00000336375.5	+	2	250	c.160C>A	c.(160-162)Ccc>Acc	p.P54T	ACPP_ENST00000351273.7_Missense_Mutation_p.P54T|ACPP_ENST00000475741.1_Missense_Mutation_p.P54T|ACPP_ENST00000489084.1_3'UTR	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	54					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TGACACCTTTCCCACTGACCC	0.473																																						uc010htp.2		NA																	0				ovary(1)	1						c.(160-162)CCC>ACC		acid phosphatase, prostate short isoform							93.0	82.0	86.0					3																	132047150		2203	4300	6503	SO:0001583	missense	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132047150C>A		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.160C>A	3.37:g.132047150C>A	ENSP00000337471:p.Pro54Thr					ACPP_uc003eon.3_Missense_Mutation_p.P54T|ACPP_uc003eop.3_Missense_Mutation_p.P54T	p.P54T	NM_001099	NP_001090	P15309	PPAP_HUMAN			2	250	+			54					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	ENST00000336375.5	37	c.160C>A	CCDS3073.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340380	0.81911	.	.	ENSG00000014257	ENST00000336375;ENST00000495911;ENST00000475741;ENST00000351273	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000002	T	0.56804	0.2010	M	0.90309	3.105	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.64816	-0.6318	10	0.87932	D	0	.	18.6683	0.91501	0.0:1.0:0.0:0.0	.	54;54;54	P15309;P15309-2;Q5FBY0	PPAP_HUMAN;.;.	T	54	ENSP00000337471:P54T;ENSP00000418366:P54T;ENSP00000417744:P54T;ENSP00000323036:P54T	ENSP00000337471:P54T	P	+	1	0	ACPP	133529840	1.000000	0.71417	0.984000	0.44739	0.924000	0.55760	5.957000	0.70323	2.691000	0.91804	0.655000	0.94253	CCC		0.473	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099		7	80	1	0	1.26e-09	1.41e-09	7	80				
GPR149	344758	broad.mit.edu	37	3	154146734	154146734	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:154146734C>T	ENST00000389740.2	-	1	770	c.671G>A	c.(670-672)aGa>aAa	p.R224K		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	224					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GGAGTGGAGTCTCGGCGGCTC	0.577																																						uc003faa.2		NA																	0				ovary(6)	6						c.(670-672)AGA>AAA		G protein-coupled receptor 149							52.0	58.0	56.0					3																	154146734		1897	4122	6019	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154146734C>T	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.671G>A	3.37:g.154146734C>T	ENSP00000374390:p.Arg224Lys						p.R224K	NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	771	-			224			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000389740.2	37	c.671G>A	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646823	0.47258	.	.	ENSG00000174948	ENST00000389740	T	0.32753	1.44	4.61	4.61	0.57282	GPCR, rhodopsin-like superfamily (1);	0.060259	0.64402	D	0.000005	T	0.37046	0.0989	L	0.56769	1.78	0.25724	N	0.985344	P	0.49185	0.92	P	0.53224	0.721	T	0.24440	-1.0160	10	0.35671	T	0.21	-17.588	5.9159	0.19055	0.206:0.6987:0.0:0.0952	.	224	Q86SP6	GP149_HUMAN	K	224	ENSP00000374390:R224K	ENSP00000374390:R224K	R	-	2	0	GPR149	155629428	0.021000	0.18746	0.186000	0.23195	0.741000	0.42261	0.680000	0.25306	2.399000	0.81585	0.655000	0.94253	AGA		0.577	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		10	84	0	0	0	0	10	84				
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		1582	Substitution - Missense(1582)	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(3139-3141)CAT>CGT		phosphoinositide-3-kinase, catalytic, alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			7	53	0	0	0	0	7	53				
GP5	2814	broad.mit.edu	37	3	194118459	194118459	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr3:194118459G>T	ENST00000401815.1	-	1	624	c.553C>A	c.(553-555)Ctg>Atg	p.L185M	GP5_ENST00000323007.3_Missense_Mutation_p.L185M			P40197	GPV_HUMAN	glycoprotein V (platelet)	185					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CCCTTGGGCAGGTGGGTCAGG	0.542																																						uc003ftv.1		NA																	0				skin(2)|breast(1)	3						c.(553-555)CTG>ATG		glycoprotein V (platelet) precursor							66.0	72.0	70.0					3																	194118459		2203	4300	6503	SO:0001583	missense	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118459G>T	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.553C>A	3.37:g.194118459G>T	ENSP00000383931:p.Leu185Met						p.L185M	NM_004488	NP_004479	P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	2	584	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	185			Extracellular (Potential).|LRR 5.		D1MER9	Missense_Mutation	SNP	ENST00000401815.1	37	c.553C>A	CCDS3307.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990815	0.54041	.	.	ENSG00000178732	ENST00000401815;ENST00000323007	T;T	0.35605	1.3;1.3	4.82	0.917	0.19380	.	0.282962	0.19144	N	0.121605	T	0.60090	0.2242	M	0.92691	3.335	0.09310	N	1	D	0.71674	0.998	D	0.66847	0.947	T	0.50533	-0.8817	10	0.87932	D	0	.	5.5385	0.17026	0.2975:0.1361:0.5665:0.0	.	185	P40197	GPV_HUMAN	M	185	ENSP00000383931:L185M;ENSP00000319286:L185M	ENSP00000319286:L185M	L	-	1	2	GP5	195599748	0.050000	0.20438	0.993000	0.49108	0.950000	0.60333	0.683000	0.25349	0.281000	0.22233	0.555000	0.69702	CTG		0.542	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		19	83	1	0	9.77e-05	0.000103274	19	83				
ZNF141	7700	broad.mit.edu	37	4	337651	337651	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:337651G>A	ENST00000240499.7	+	2	233	c.84G>A	c.(82-84)ttG>ttA	p.L28L	ZNF141_ENST00000512994.1_Silent_p.L28L|ZNF141_ENST00000505939.1_Silent_p.L28L	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	28	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L28L(1)		breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AGCAGAATTTGTATAGAGATG	0.388																																						uc003gaa.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(82-84)TTG>TTA		zinc finger protein 141							69.0	74.0	73.0					4																	337651		2203	4300	6503	SO:0001819	synonymous_variant	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:337651G>A	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.84G>A	4.37:g.337651G>A						ZNF141_uc003fzz.2_Silent_p.L28L|ZNF141_uc003gab.2_Silent_p.L28L	p.L28L	NM_003441	NP_003432	Q15928	ZN141_HUMAN			3	262	+			28			KRAB.		Q6DK07	Silent	SNP	ENST00000240499.7	37	c.84G>A	CCDS33931.1																																																																																				0.388	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		4	145	0	0	0	0	4	145				
NELFA	7469	broad.mit.edu	37	4	1985396	1985396	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:1985396C>G	ENST00000411638.2	-	10	1344	c.1329G>C	c.(1327-1329)gaG>gaC	p.E443D	MIR943_ENST00000401286.1_RNA|NELFA_ENST00000542778.1_Missense_Mutation_p.E308D|NELFA_ENST00000382882.3_Missense_Mutation_p.E454D	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	443					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										TCTTGAACATCTCCTGGGCAG	0.657																																						uc003gem.2		NA																	0				skin(1)	1						c.(1360-1362)GAG>GAC		Wolf-Hirschhorn syndrome candidate 2 protein							56.0	58.0	58.0					4																	1985396		2203	4300	6503	SO:0001583	missense	7469				multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm		g.chr4:1985396C>G	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1329G>C	4.37:g.1985396C>G	ENSP00000399165:p.Glu443Asp					WHSC2_uc003gek.2_Missense_Mutation_p.E180D|WHSC2_uc003gel.2_Missense_Mutation_p.E368D|WHSC2_uc003gen.2_Missense_Mutation_p.E308D	p.E454D	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0155)		10	1602	-			443					A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37	c.1362G>C		.	.	.	.	.	.	.	.	.	.	C	15.27	2.783361	0.49891	.	.	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	4.83	1.63	0.23807	.	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	M	0.65975	2.015	0.50813	D	0.999897	P	0.38395	0.629	B	0.40165	0.321	T	0.40496	-0.9560	10	0.38643	T	0.18	-34.7772	8.5024	0.33165	0.0:0.5979:0.0:0.4021	.	443	Q9H3P2	NELFA_HUMAN	D	454;447;308;443	ENSP00000372335:E454D;ENSP00000387647:E447D;ENSP00000445757:E308D;ENSP00000399165:E443D	ENSP00000372335:E454D	E	-	3	2	WHSC2	1955194	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	0.890000	0.28295	0.467000	0.27218	0.462000	0.41574	GAG		0.657	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		12	61	0	0	0	0	12	61				
NELFA	7469	broad.mit.edu	37	4	1985419	1985419	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:1985419C>G	ENST00000411638.2	-	10	1321	c.1306G>C	c.(1306-1308)Gag>Cag	p.E436Q	MIR943_ENST00000401286.1_RNA|NELFA_ENST00000542778.1_Missense_Mutation_p.E301Q|NELFA_ENST00000382882.3_Missense_Mutation_p.E447Q	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	436					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										AACATCTGCTCTCTCTACAGC	0.667																																						uc003gem.2		NA																	0				skin(1)	1						c.(1339-1341)GAG>CAG		Wolf-Hirschhorn syndrome candidate 2 protein							45.0	46.0	46.0					4																	1985419		2203	4300	6503	SO:0001583	missense	7469				multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm		g.chr4:1985419C>G	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1306G>C	4.37:g.1985419C>G	ENSP00000399165:p.Glu436Gln					WHSC2_uc003gek.2_Missense_Mutation_p.E173Q|WHSC2_uc003gel.2_Missense_Mutation_p.E361Q|WHSC2_uc003gen.2_Missense_Mutation_p.E301Q	p.E447Q	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0155)		10	1579	-			436					A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37	c.1339G>C		.	.	.	.	.	.	.	.	.	.	C	13.78	2.340654	0.41498	.	.	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	4.83	3.98	0.46160	.	0.120424	0.56097	D	0.000028	T	0.56046	0.1959	L	0.58810	1.83	0.58432	D	0.999997	P	0.42584	0.784	P	0.51615	0.675	T	0.56300	-0.8002	10	0.48119	T	0.1	-27.0096	12.8914	0.58073	0.0:0.9202:0.0:0.0798	.	436	Q9H3P2	NELFA_HUMAN	Q	447;440;301;436	ENSP00000372335:E447Q;ENSP00000387647:E440Q;ENSP00000445757:E301Q;ENSP00000399165:E436Q	ENSP00000372335:E447Q	E	-	1	0	WHSC2	1955217	1.000000	0.71417	0.987000	0.45799	0.379000	0.30106	5.896000	0.69822	1.030000	0.39839	0.462000	0.41574	GAG		0.667	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		8	47	0	0	0	0	8	47				
DCAF16	54876	broad.mit.edu	37	4	17805653	17805653	+	Missense_Mutation	SNP	C	C	T	rs199782348		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:17805653C>T	ENST00000382247.1	-	3	1172	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	DCAF16_ENST00000507768.1_5'Flank|DCAF16_ENST00000536863.1_Missense_Mutation_p.E38K	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	38					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						GAGTCCTCTTCTTCAGAGGAA	0.423																																						uc003gpn.2		NA																	0				ovary(1)	1						c.(112-114)GAA>AAA		DDB1 and CUL4 associated factor 16							75.0	80.0	78.0					4																	17805653		2203	4300	6503	SO:0001583	missense	54876					CUL4 RING ubiquitin ligase complex		g.chr4:17805653C>T	AK000287	CCDS3423.1	4p15.32	2009-07-17	2009-07-17	2009-07-17	ENSG00000163257	ENSG00000163257		"""DDB1 and CUL4 associated factors"""	25987	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 30"""	C4orf30		12477932	Standard	XM_005248169		Approved	FLJ20280	uc003gpn.3	Q9NXF7	OTTHUMG00000128536	ENST00000382247.1:c.112G>A	4.37:g.17805653C>T	ENSP00000371682:p.Glu38Lys					DCAF16_uc003gpo.2_RNA	p.E38K	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN			3	1173	-			38					B3KPB7	Missense_Mutation	SNP	ENST00000382247.1	37	c.112G>A	CCDS3423.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360282	0.41801	.	.	ENSG00000163257	ENST00000382247;ENST00000536863	T;T	0.33438	1.41;1.41	4.04	4.04	0.47022	.	.	.	.	.	T	0.32585	0.0834	N	0.08118	0	0.27779	N	0.943215	D	0.60575	0.988	D	0.65010	0.931	T	0.18209	-1.0344	9	0.87932	D	0	-6.7972	11.9948	0.53196	0.0:1.0:0.0:0.0	.	38	Q9NXF7	DCA16_HUMAN	K	38	ENSP00000371682:E38K;ENSP00000445736:E38K	ENSP00000371682:E38K	E	-	1	0	DCAF16	17414751	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	2.344000	0.44010	2.563000	0.86464	0.561000	0.74099	GAA		0.423	DCAF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250371.1	NM_017741		13	103	0	0	0	0	13	103				
CWH43	80157	broad.mit.edu	37	4	49052833	49052833	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:49052833G>C	ENST00000226432.4	+	15	2171	c.1988G>C	c.(1987-1989)aGa>aCa	p.R663T	CWH43_ENST00000513409.1_Missense_Mutation_p.R636T	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	663					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ATAGACCACAGAGAAGTTTCT	0.398																																						uc003gyv.2		NA																	0				skin(2)|ovary(1)	3						c.(1987-1989)AGA>ACA		cell wall biogenesis 43 C-terminal homolog							52.0	53.0	53.0					4																	49052833		2203	4299	6502	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49052833G>C		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1988G>C	4.37:g.49052833G>C	ENSP00000226432:p.Arg663Thr					CWH43_uc011bzl.1_Missense_Mutation_p.R636T	p.R663T	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN			15	2170	+			663					B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.1988G>C	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	G	5.110	0.205838	0.09704	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.44482	1.51;0.92	5.13	3.4	0.38934	.	0.182251	0.38492	N	0.001668	T	0.31734	0.0806	L	0.44542	1.39	0.22240	N	0.999265	B	0.28933	0.228	B	0.27796	0.083	T	0.14811	-1.0459	9	.	.	.	.	9.2772	0.37707	0.0778:0.1449:0.7773:0.0	.	663	Q9H720	PG2IP_HUMAN	T	663;636	ENSP00000226432:R663T;ENSP00000422802:R636T	.	R	+	2	0	CWH43	48747590	0.959000	0.32827	0.151000	0.22473	0.004000	0.04260	3.197000	0.51028	0.856000	0.35383	-0.165000	0.13383	AGA		0.398	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		5	51	0	0	0	0	5	51				
SCLT1	132320	broad.mit.edu	37	4	129857913	129857913	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr4:129857913C>G	ENST00000281142.5	-	18	2229	c.1726G>C	c.(1726-1728)Gaa>Caa	p.E576Q	SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	576					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TGCCTCAGTTCAACAATGGAA	0.363																																						uc003igp.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)	5						c.(1726-1728)GAA>CAA		sodium channel associated protein 1							136.0	125.0	129.0					4																	129857913		2203	4300	6503	SO:0001583	missense	132320					centrosome		g.chr4:129857913C>G	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1726G>C	4.37:g.129857913C>G	ENSP00000281142:p.Glu576Gln					SCLT1_uc003ign.2_Missense_Mutation_p.E240Q|SCLT1_uc003igo.2_Missense_Mutation_p.E186Q|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	p.E576Q	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN			18	2232	-			576			Potential.		A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.1726G>C	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.221128	0.39201	.	.	ENSG00000151466	ENST00000281142	T	0.57436	0.4	4.85	4.85	0.62838	.	0.102900	0.64402	D	0.000004	T	0.62974	0.2472	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.60586	-0.7234	9	.	.	.	-13.4879	17.9433	0.89031	0.0:1.0:0.0:0.0	.	576	Q96NL6	SCLT1_HUMAN	Q	576	ENSP00000281142:E576Q	.	E	-	1	0	SCLT1	130077363	1.000000	0.71417	0.940000	0.37924	0.013000	0.08279	4.587000	0.60991	2.403000	0.81681	0.591000	0.81541	GAA		0.363	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		7	35	0	0	0	0	7	35				
MARCH11	441061	broad.mit.edu	37	5	16067874	16067874	+	Silent	SNP	A	A	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:16067874A>T	ENST00000332432.8	-	4	1114	c.915T>A	c.(913-915)gtT>gtA	p.V305V		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	305					protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						ACACTCTGTAAACTGCAGCTC	0.408																																						uc003jfo.2		NA																	0					0						c.(913-915)GTT>GTA		membrane-associated ring finger (C3HC4) 11							46.0	44.0	45.0					5																	16067874		1873	4119	5992	SO:0001819	synonymous_variant	441061					cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding	g.chr5:16067874A>T	BC150513	CCDS47192.1	5p15.1	2013-01-09			ENSG00000183654	ENSG00000183654		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	33609	protein-coding gene	gene with protein product		613338				17604280	Standard	NM_001102562		Approved	MARCH-XI	uc003jfo.2	A6NNE9	OTTHUMG00000161789	ENST00000332432.8:c.915T>A	5.37:g.16067874A>T						MARCH11_uc010itw.1_Silent_p.V61V	p.V305V	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN			4	1128	-			305					A7E2S6	Silent	SNP	ENST00000332432.8	37	c.915T>A	CCDS47192.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.317122	0.40996	.	.	ENSG00000183654	ENST00000507111	.	.	.	5.54	4.35	0.52113	.	.	.	.	.	T	0.56455	0.1986	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52801	-0.8527	4	.	.	.	-26.328	6.9967	0.24786	0.6422:0.2856:0.0722:0.0	.	.	.	.	I	45	.	.	L	-	1	2	MARCH11	16120874	0.979000	0.34478	1.000000	0.80357	0.948000	0.59901	0.272000	0.18644	0.996000	0.38943	0.533000	0.62120	TTA		0.408	MARCH11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000366096.2	NM_001102562		6	46	0	0	0	0	6	46				
NIM1K	167359	broad.mit.edu	37	5	43246074	43246074	+	Missense_Mutation	SNP	C	C	T	rs200164841	byFrequency	TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:43246074C>T	ENST00000512796.1	+	2	1696	c.197C>T	c.(196-198)aCg>aTg	p.T66M	NIM1_ENST00000326035.2_Missense_Mutation_p.T66M			Q8IY84	NIM1_HUMAN		66					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										AGGGAGATCACGCTGGGGAAA	0.552																																						uc003jno.2		NA																	0				lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9						c.(196-198)ACG>ATG		serine/threonine-protein kinase NIM1		C	MET/THR	0,4406		0,0,2203	100.0	95.0	97.0		197	5.8	1.0	5		97	2,8598	2.2+/-6.3	0,2,4298	no	missense	NIM1	NM_153361.2	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	66/437	43246074	2,13004	2203	4300	6503	SO:0001583	missense	167359						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:43246074C>T																												ENST00000512796.1:c.197C>T	5.37:g.43246074C>T	ENSP00000420849:p.Thr66Met						p.T66M	NM_153361	NP_699192	Q8IY84	NIM1_HUMAN			2	1078	+			66					B3KVM1	Missense_Mutation	SNP	ENST00000512796.1	37	c.197C>T	CCDS3943.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.979899	0.53827	0.0	2.33E-4	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.73152	-0.72;-0.72	5.83	5.83	0.93111	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.67163	0.2864	L	0.50333	1.59	0.80722	D	1	P	0.39520	0.676	B	0.36030	0.216	T	0.65344	-0.6191	9	.	.	.	.	20.1356	0.98028	0.0:1.0:0.0:0.0	.	66	Q8IY84	NIM1_HUMAN	M	66	ENSP00000313572:T66M;ENSP00000420849:T66M	.	T	+	2	0	AC114947.1	43281831	1.000000	0.71417	0.965000	0.40720	0.554000	0.35429	4.734000	0.62043	2.755000	0.94549	0.650000	0.86243	ACG		0.552	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1			14	102	0	0	0	0	14	102				
CWC27	10283	broad.mit.edu	37	5	64267529	64267529	+	Splice_Site	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:64267529G>C	ENST00000381070.3	+	12	1259		c.e12-1		CWC27_ENST00000545000.1_Splice_Site	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)						mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						CTATTCTTTAGAGGAAGAAGC	0.418																																						uc003jtn.1		NA																	0					0						c.e12-1		serologically defined colon cancer antigen 10							46.0	52.0	50.0					5																	64267529		2203	4300	6503	SO:0001630	splice_region_variant	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64267529G>C	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.1043-1G>C	5.37:g.64267529G>C						CWC27_uc010iwt.1_Splice_Site_p.E348_splice	p.E348_splice	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN			12	1262	+								O60529|O60530|Q96EM3	Splice_Site	SNP	ENST00000381070.3	37	c.1043_splice	CCDS3982.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968599	0.74131	.	.	ENSG00000153015	ENST00000381070;ENST00000538793	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2366	0.98359	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CWC27	64303285	1.000000	0.71417	0.998000	0.56505	0.876000	0.50452	6.953000	0.75995	2.792000	0.96026	0.557000	0.71058	.		0.418	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869	Intron	7	92	0	0	0	0	7	92				
MARVELD2	153562	broad.mit.edu	37	5	68715437	68715437	+	Silent	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:68715437C>G	ENST00000325631.5	+	2	299	c.225C>G	c.(223-225)ctC>ctG	p.L75L	MARVELD2_ENST00000413223.2_Silent_p.L75L	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	75					cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CGCCAGATCTCAAACCAGTAA	0.522																																						uc003jwq.2		NA																	0					0						c.(223-225)CTC>CTG		MARVEL domain containing 2 isoform 1							68.0	70.0	69.0					5																	68715437		2203	4300	6503	SO:0001819	synonymous_variant	153562				sensory perception of sound	integral to membrane|tight junction		g.chr5:68715437C>G	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"""tricellulin"""	610572	"""MARVEL (membrane-associating) domain containing 2"", ""deafness, autosomal recessive 49"""	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.225C>G	5.37:g.68715437C>G						MARVELD2_uc010ixf.2_Silent_p.L75L|MARVELD2_uc003jwr.1_Silent_p.L75L|MARVELD2_uc003jws.1_RNA	p.L75L	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	2	284	+		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)	75			Cytoplasmic (Potential).		A1BQX0|A1BQX1|A8KA97|Q96NM9	Silent	SNP	ENST00000325631.5	37	c.225C>G	CCDS34175.1																																																																																				0.522	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369583.1	NM_144724		9	66	0	0	0	0	9	66				
ZNF366	167465	broad.mit.edu	37	5	71757020	71757020	+	Missense_Mutation	SNP	C	C	G	rs533088108		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:71757020C>G	ENST00000318442.5	-	2	794	c.304G>C	c.(304-306)Gag>Cag	p.E102Q		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	102					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TTGTTCTCCTCTGAGTGGAGG	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18324	0.0		0.0	False		,,,				2504	0.0					uc003kce.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(304-306)GAG>CAG		zinc finger protein 366							217.0	236.0	230.0					5																	71757020		2203	4300	6503	SO:0001583	missense	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71757020C>G	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.304G>C	5.37:g.71757020C>G	ENSP00000313158:p.Glu102Gln						p.E102Q	NM_152625	NP_689838	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	490	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	102					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.304G>C	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	C	8.595	0.885394	0.17540	.	.	ENSG00000178175	ENST00000318442	T	0.36157	1.27	5.32	3.14	0.36123	.	0.645688	0.15000	N	0.286166	T	0.23330	0.0564	N	0.17082	0.46	0.22903	N	0.998588	B	0.13594	0.008	B	0.06405	0.002	T	0.11372	-1.0590	10	0.15952	T	0.53	-24.7001	15.3551	0.74421	0.0:0.6492:0.3508:0.0	.	102	Q8N895	ZN366_HUMAN	Q	102	ENSP00000313158:E102Q	ENSP00000313158:E102Q	E	-	1	0	ZNF366	71792776	0.985000	0.35326	0.149000	0.22428	0.398000	0.30690	1.902000	0.39848	0.950000	0.37743	0.462000	0.41574	GAG		0.582	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			54	232	0	0	0	0	54	232				
KIF3A	11127	broad.mit.edu	37	5	132051521	132051521	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:132051521C>G	ENST00000378746.4	-	8	1275	c.1057G>C	c.(1057-1059)Gaa>Caa	p.E353Q	KIF3A_ENST00000378735.1_Missense_Mutation_p.E353Q|KIF3A_ENST00000403231.1_Missense_Mutation_p.E353Q|AC004237.1_ENST00000431165.1_RNA	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	353					anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTGGATCTTCATTAATTCTA	0.333																																						uc003kxo.2		NA																	0				pancreas(1)	1						c.(1057-1059)GAA>CAA		kinesin family member 3A							68.0	66.0	67.0					5																	132051521		2203	4297	6500	SO:0001583	missense	11127				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	g.chr5:132051521C>G	AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.1057G>C	5.37:g.132051521C>G	ENSP00000368020:p.Glu353Gln					KIF3A_uc003kxn.2_Missense_Mutation_p.E312Q|KIF3A_uc011cxf.1_Missense_Mutation_p.E353Q|KIF3A_uc003kxp.2_Missense_Mutation_p.E353Q	p.E353Q	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		8	1211	-		all_cancers(142;0.0751)|Breast(839;0.198)	353					A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Missense_Mutation	SNP	ENST00000378746.4	37	c.1057G>C	CCDS34235.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237650	0.95240	.	.	ENSG00000131437	ENST00000378746;ENST00000378735;ENST00000541316;ENST00000403231;ENST00000450914	T;T;T	0.73469	-0.75;3.63;-0.75	5.82	5.82	0.92795	Kinesin, motor domain (2);	0.092385	0.64402	D	0.000001	D	0.86138	0.5861	M	0.74467	2.265	0.80722	D	1	D;P;D;P	0.89917	0.99;0.734;1.0;0.584	P;B;D;B	0.67103	0.904;0.185;0.949;0.161	D	0.85365	0.1110	10	0.49607	T	0.09	.	20.1086	0.97902	0.0:1.0:0.0:0.0	.	353;353;353;353	E9PES4;B4DHG8;Q9Y496;Q2UVF2	.;.;KIF3A_HUMAN;.	Q	353;353;353;353;323	ENSP00000368020:E353Q;ENSP00000368009:E353Q;ENSP00000385808:E353Q	ENSP00000368009:E353Q	E	-	1	0	KIF3A	132079420	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.756000	0.94617	0.563000	0.77884	GAA		0.333	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3	NM_007054		9	48	0	0	0	0	9	48				
PCDHA10	56139	broad.mit.edu	37	5	140237074	140237074	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:140237074G>A	ENST00000307360.5	+	1	1441	c.1441G>A	c.(1441-1443)Gcg>Acg	p.A481T	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A481T|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	481	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A481S(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGTGGGACGCGGACGCGCA	0.662																																						uc003lhx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|breast(1)	5						c.(1441-1443)GCG>ACG		protocadherin alpha 10 isoform 1 precursor							88.0	87.0	87.0					5																	140237074		2196	4273	6469	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140237074G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1441G>A	5.37:g.140237074G>A	ENSP00000304234:p.Ala481Thr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.A481T|PCDHA10_uc011dad.1_Missense_Mutation_p.A481T	p.A481T	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1441	+			481			Cadherin 5.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1441G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683650	0.47991	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.61859	4.64;0.07	3.74	2.77	0.32553	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.59335	0.2186	L	0.60957	1.885	0.28134	N	0.930071	P;B;D	0.56521	0.849;0.241;0.976	B;B;P	0.50049	0.414;0.135;0.629	T	0.54728	-0.8250	9	0.66056	D	0.02	.	8.7261	0.34469	0.0:0.241:0.6273:0.1317	.	481;481;481	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	T	481	ENSP00000421030:A481T;ENSP00000304234:A481T	ENSP00000304234:A481T	A	+	1	0	PCDHA10	140217258	0.000000	0.05858	1.000000	0.80357	0.634000	0.38068	-0.444000	0.06854	2.077000	0.62373	0.456000	0.33151	GCG		0.662	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		24	142	0	0	0	0	24	142				
SH3TC2	79628	broad.mit.edu	37	5	148427536	148427536	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:148427536G>A	ENST00000515425.1	-	3	269	c.168C>T	c.(166-168)ttC>ttT	p.F56F	SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Silent_p.F56F	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	56					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTTACACAGAAGGAGAGTG	0.502																																						uc003lpu.2		NA																	0				ovary(2)	2						c.(166-168)TTC>TTT		SH3 domain and tetratricopeptide repeats 2							100.0	106.0	104.0					5																	148427536		2203	4300	6503	SO:0001819	synonymous_variant	79628						binding	g.chr5:148427536G>A	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.168C>T	5.37:g.148427536G>A						SH3TC2_uc003lpp.1_RNA|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Silent_p.F56F|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_5'UTR|SH3TC2_uc003lpw.1_Silent_p.F56F	p.F56F	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	320	-			56					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Silent	SNP	ENST00000515425.1	37	c.168C>T	CCDS4293.1																																																																																				0.502	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		20	171	0	0	0	0	20	171				
CREBRF	153222	broad.mit.edu	37	5	172550143	172550143	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:172550143C>T	ENST00000296953.2	+	8	2061	c.1742C>T	c.(1741-1743)cCa>cTa	p.P581L	CREBRF_ENST00000540014.1_Missense_Mutation_p.P583L	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	581	bZIP.				negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GTACAGAATCCAAGAGATGAG	0.363																																						uc003mch.2		NA																	0					0						c.(1741-1743)CCA>CTA		luman-recruiting factor							97.0	111.0	106.0					5																	172550143		2203	4300	6503	SO:0001583	missense	153222						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:172550143C>T	AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1742C>T	5.37:g.172550143C>T	ENSP00000296953:p.Pro581Leu					C5orf41_uc011dfd.1_Missense_Mutation_p.P581L	p.P581L	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		8	2046	+	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	581					B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	ENST00000296953.2	37	c.1742C>T	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.234994	0.79800	.	.	ENSG00000164463	ENST00000296953;ENST00000540014;ENST00000538538;ENST00000393776	T;T	0.20463	2.07;2.07	5.3	5.3	0.74995	.	0.059480	0.64402	D	0.000002	T	0.15392	0.0371	N	0.19112	0.55	0.80722	D	1	P	0.37955	0.612	B	0.30716	0.119	T	0.05053	-1.0909	10	0.66056	D	0.02	.	18.9074	0.92467	0.0:1.0:0.0:0.0	.	581	Q8IUR6	CE041_HUMAN	L	581;583;581;581	ENSP00000296953:P581L;ENSP00000440075:P583L	ENSP00000296953:P581L	P	+	2	0	C5orf41	172482749	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.754000	0.47532	2.650000	0.89964	0.655000	0.94253	CCA		0.363	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607		14	103	0	0	0	0	14	103				
ZNF354A	6940	broad.mit.edu	37	5	178152447	178152447	+	Silent	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:178152447C>T	ENST00000335815.2	-	4	383	c.186G>A	c.(184-186)gtG>gtA	p.V62V		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	62	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|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(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ACAGGGAGATCACTTTTGGTT	0.468																																						uc003mjj.2		NA																	0				ovary(2)|skin(1)	3						c.(184-186)GTG>GTA		zinc finger protein 354A							117.0	112.0	114.0					5																	178152447		2203	4300	6503	SO:0001819	synonymous_variant	6940				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178152447C>T	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.186G>A	5.37:g.178152447C>T							p.V62V	NM_005649	NP_005640	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	4	384	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	62			KRAB.		Q9UNJ8	Silent	SNP	ENST00000335815.2	37	c.186G>A	CCDS4438.1																																																																																				0.468	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		15	113	0	0	0	0	15	113				
ADAMTS2	9509	broad.mit.edu	37	5	178563011	178563011	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr5:178563011T>C	ENST00000251582.7	-	13	2085	c.1984A>G	c.(1984-1986)Agg>Ggg	p.R662G		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	662	Cys-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCGGTCTCCCTGGACTCGCAG	0.632																																						uc003mjw.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1984-1986)AGG>GGG		ADAM metallopeptidase with thrombospondin type 1							111.0	108.0	109.0					5																	178563011		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178563011T>C	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1984A>G	5.37:g.178563011T>C	ENSP00000251582:p.Arg662Gly						p.R662G	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	13	1984	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	662			Cys-rich.			Missense_Mutation	SNP	ENST00000251582.7	37	c.1984A>G	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.960599	0.53400	.	.	ENSG00000087116	ENST00000251582	T	0.68025	-0.3	5.37	1.21	0.21127	.	0.204951	0.33327	N	0.005027	T	0.60077	0.2241	L	0.57536	1.79	0.80722	D	1	B	0.20887	0.049	B	0.15870	0.014	T	0.59123	-0.7513	10	0.56958	D	0.05	.	12.3077	0.54912	0.0:0.0:0.4086:0.5914	.	662	O95450	ATS2_HUMAN	G	662	ENSP00000251582:R662G	ENSP00000251582:R662G	R	-	1	2	ADAMTS2	178495617	0.999000	0.42202	0.998000	0.56505	0.925000	0.55904	2.742000	0.47434	0.299000	0.22661	0.379000	0.24179	AGG		0.632	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		5	144	0	0	0	0	5	144				
HSPA1L	3305	broad.mit.edu	37	6	31779660	31779660	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:31779660G>A	ENST00000375654.4	-	2	279	c.90C>T	c.(88-90)atC>atT	p.I30I	HSPA1L_ENST00000417199.3_Silent_p.I30I	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	30					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CGTTGGCGATGATCTCCACCT	0.607																																						uc003nxh.2		NA																	0				ovary(3)|pleura(1)|kidney(1)|skin(1)	6						c.(88-90)ATC>ATT		heat shock 70kDa protein 1-like							108.0	86.0	94.0					6																	31779660		2203	4300	6503	SO:0001819	synonymous_variant	3305				response to unfolded protein		ATP binding	g.chr6:31779660G>A	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.90C>T	6.37:g.31779660G>A						HSPA1L_uc010jte.2_Silent_p.I30I	p.I30I	NM_005527	NP_005518	P34931	HS71L_HUMAN			2	273	-			30					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Silent	SNP	ENST00000375654.4	37	c.90C>T	CCDS34413.1																																																																																				0.607	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			8	120	0	0	0	0	8	120				
CYP21A1P	1590	broad.mit.edu	37	6	31975160	31975160	+	5'Flank	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:31975160G>A	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							CTTGCACATGGCTGCAGTGGA	0.607																																						uc010jtp.2		NA																	0					0						c.(853-855)GCT>ACT		SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2; SubName: Full=Cytochrome P450 21-hydroxylase; SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b; SubName: Full=DJ34F7.3 (Cytochrome P450, subfamily XXIA (Steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 (CYP21, P450c21B)); SubName: Full=cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA;																																				SO:0001631	upstream_gene_variant	1589				glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	g.chr6:31975160G>A																													6.37:g.31975160G>A	Exception_encountered					CYP21A2_uc011dpb.1_Missense_Mutation_p.A255T	p.A285T			P08686	CP21A_HUMAN			8	971	+			284						Missense_Mutation	SNP	ENST00000594256.1	37	c.853G>A																																																																																					0.607	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				35	187	0	0	0	0	35	187				
ZNF318	24149	broad.mit.edu	37	6	43323487	43323487	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:43323487G>A	ENST00000361428.2	-	4	1662	c.1585C>T	c.(1585-1587)Ccc>Tcc	p.P529S	ZNF318_ENST00000318149.3_Missense_Mutation_p.P529S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	529					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCAATGTCGGGAAAGCTACGT	0.488																																						uc003oux.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(1585-1587)CCC>TCC		zinc finger protein 318							219.0	226.0	223.0					6																	43323487		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43323487G>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.1585C>T	6.37:g.43323487G>A	ENSP00000354964:p.Pro529Ser					ZNF318_uc003ouw.2_RNA	p.P529S	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	1663	-			529					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.1585C>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584729	0.65992	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.03065	4.06;4.06	6.17	6.17	0.99709	.	0.069669	0.64402	D	0.000020	T	0.04634	0.0126	L	0.27053	0.805	0.42790	D	0.99389	D	0.53462	0.96	P	0.59761	0.863	T	0.49273	-0.8957	10	0.51188	T	0.08	-13.3057	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	529	Q5VUA4	ZN318_HUMAN	S	529	ENSP00000323032:P529S;ENSP00000354964:P529S	ENSP00000323032:P529S	P	-	1	0	ZNF318	43431465	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.489000	0.66875	2.941000	0.99782	0.655000	0.94253	CCC		0.488	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		87	334	0	0	0	0	87	334				
TFAP2D	83741	broad.mit.edu	37	6	50740385	50740385	+	Silent	SNP	G	G	A	rs149503577		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:50740385G>A	ENST00000008391.3	+	8	1395	c.1167G>A	c.(1165-1167)ccG>ccA	p.P389P		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TTGGGACTCCGGCAATATGTG	0.428																																						uc003paf.2		NA																	0		p.P389L(1)		ovary(6)|breast(1)	7						c.(1165-1167)CCG>CCA		transcription factor AP-2 beta-like 1		G		1,4405	2.1+/-5.4	0,1,2202	57.0	56.0	56.0		1167	1.4	1.0	6	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TFAP2D	NM_172238.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		389/453	50740385	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50740385G>A	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1167G>A	6.37:g.50740385G>A						TFAP2D_uc011dwt.1_RNA	p.P389P	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			8	1679	+	Lung NSC(77;0.0334)		389			H-S-H (helix-span-helix), dimerization.			Silent	SNP	ENST00000008391.3	37	c.1167G>A	CCDS4933.1																																																																																				0.428	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		12	69	0	0	0	0	12	69				
PKHD1	5314	broad.mit.edu	37	6	51612823	51612823	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:51612823C>G	ENST00000371117.3	-	58	9866	c.9591G>C	c.(9589-9591)caG>caC	p.Q3197H	PKHD1_ENST00000340994.4_Missense_Mutation_p.Q3197H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3197					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TAAGCACAATCTGCACTTTTT	0.423																																						uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(9589-9591)CAG>CAC		fibrocystin isoform 1							115.0	121.0	119.0					6																	51612823		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51612823C>G	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9591G>C	6.37:g.51612823C>G	ENSP00000360158:p.Gln3197His					PKHD1_uc010jzn.1_Missense_Mutation_p.Q1180H|PKHD1_uc003pai.2_Missense_Mutation_p.Q3197H	p.Q3197H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			58	9867	-	Lung NSC(77;0.0605)		3197			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9591G>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.065896	0.00382	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87491	-2.05;-2.26	5.75	0.866	0.19079	.	0.528179	0.19971	N	0.101982	T	0.66025	0.2748	M	0.63428	1.95	0.09310	N	1	B;B;B	0.29531	0.13;0.247;0.13	B;B;B	0.24155	0.017;0.051;0.017	T	0.55354	-0.8154	10	0.15066	T	0.55	.	8.0513	0.30579	0.0:0.4896:0.2628:0.2477	.	3197;3197;3197	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	H	3197	ENSP00000360158:Q3197H;ENSP00000341097:Q3197H	ENSP00000341097:Q3197H	Q	-	3	2	PKHD1	51720782	0.062000	0.20869	0.333000	0.25482	0.015000	0.08874	-0.078000	0.11375	-0.098000	0.12285	-2.970000	0.00081	CAG		0.423	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		27	164	0	0	0	0	27	164				
PKHD1	5314	broad.mit.edu	37	6	51934279	51934279	+	Missense_Mutation	SNP	G	G	C	rs374979828		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:51934279G>C	ENST00000371117.3	-	11	1029	c.754C>G	c.(754-756)Ctt>Gtt	p.L252V	PKHD1_ENST00000340994.4_Missense_Mutation_p.L252V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	252					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TATAGGAAAAGATCCTGTTTA	0.453																																						uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	GRCh37	CM054817	PKHD1	M		c.(754-756)CTT>GTT		fibrocystin isoform 1							279.0	257.0	265.0					6																	51934279		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51934279G>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.754C>G	6.37:g.51934279G>C	ENSP00000360158:p.Leu252Val					PKHD1_uc003pai.2_Missense_Mutation_p.L252V	p.L252V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			11	1030	-	Lung NSC(77;0.0605)		252			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.754C>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072964	0.76415	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88586	-2.2;-2.4	5.28	5.28	0.74379	Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000010	D	0.91580	0.7340	L	0.61036	1.89	0.35244	D	0.778121	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	D	0.88771	0.3264	10	0.20519	T	0.43	.	18.3185	0.90229	0.0:0.0:1.0:0.0	.	252;252	P08F94-2;P08F94	.;PKHD1_HUMAN	V	252	ENSP00000360158:L252V;ENSP00000341097:L252V	ENSP00000341097:L252V	L	-	1	0	PKHD1	52042238	1.000000	0.71417	0.966000	0.40874	0.935000	0.57460	5.966000	0.70395	2.654000	0.90174	0.650000	0.86243	CTT		0.453	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		42	247	0	0	0	0	42	247				
MCM3	4172	broad.mit.edu	37	6	52129419	52129419	+	Silent	SNP	G	G	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:52129419G>T	ENST00000229854.7	-	17	2470	c.2394C>A	c.(2392-2394)gtC>gtA	p.V798V	MCM3_ENST00000596288.1_Silent_p.V843V|MCM3_ENST00000419835.2_Silent_p.V752V			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	798					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CAGACACCATGACCTGATTGT	0.532																																						uc003pan.1		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(2392-2394)GTC>GTA		minichromosome maintenance complex component 3							201.0	165.0	177.0					6																	52129419		2203	4300	6503	SO:0001819	synonymous_variant	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52129419G>T	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.2394C>A	6.37:g.52129419G>T						MCM3_uc011dwu.1_Silent_p.V752V	p.V798V	NM_002388	NP_002379	P25205	MCM3_HUMAN			17	2504	-	Lung NSC(77;0.0931)		798					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Silent	SNP	ENST00000229854.7	37	c.2394C>A																																																																																					0.532	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			11	139	1	0	0.000978159	0.00102707	11	139				
SYNCRIP	10492	broad.mit.edu	37	6	86346765	86346765	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:86346765C>G	ENST00000369622.3	-	6	1086	c.586G>C	c.(586-588)Gat>Cat	p.D196H	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.D196H	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	196	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GTGAGTGGATCCATCATTAGA	0.403																																						uc003pla.2		NA																	0				ovary(2)	2						c.(586-588)GAT>CAT		synaptotagmin binding, cytoplasmic RNA							81.0	78.0	79.0					6																	86346765		2203	4300	6503	SO:0001583	missense	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86346765C>G	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.586G>C	6.37:g.86346765C>G	ENSP00000358635:p.Asp196His					SYNCRIP_uc003pku.2_Missense_Mutation_p.D196H|SYNCRIP_uc003pkw.2_Missense_Mutation_p.D196H|SYNCRIP_uc003pky.2_Missense_Mutation_p.D98H|SYNCRIP_uc003pkv.2_Missense_Mutation_p.D196H|SYNCRIP_uc003pkx.2_Missense_Mutation_p.D44H|SYNCRIP_uc003pkz.2_Missense_Mutation_p.D196H	p.D196H	NM_006372	NP_006363	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	6	1127	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	196			RRM 1.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.586G>C	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913324	0.92178	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.55760	0.76;0.5	5.77	5.77	0.91146	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.71151	0.3306	M	0.79258	2.445	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0;0.996;0.999	D;D;D;D;D;D;D	0.85130	0.984;0.976;0.997;0.988;0.992;0.95;0.984	T	0.73620	-0.3925	10	0.87932	D	0	.	19.5889	0.95499	0.0:1.0:0.0:0.0	.	196;196;98;44;196;196;196	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	H	196	ENSP00000347380:D196H;ENSP00000358635:D196H	ENSP00000347380:D196H	D	-	1	0	SYNCRIP	86403484	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.729000	0.93468	0.655000	0.94253	GAT		0.403	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		9	69	0	0	0	0	9	69				
BACH2	60468	broad.mit.edu	37	6	90660199	90660199	+	Silent	SNP	G	G	C	rs202242610		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:90660199G>C	ENST00000257749.4	-	7	2333	c.1626C>G	c.(1624-1626)ctC>ctG	p.L542L	RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Silent_p.L542L|BACH2_ENST00000343122.3_Silent_p.L542L|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	542						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AGAACTCACAGAGAGGGAGGC	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		17995	0.001		0.0	False		,,,				2504	0.0					uc011eab.1		NA																	0				ovary(3)|pancreas(1)|lung(1)|skin(1)	6						c.(1624-1626)CTC>CTG		BTB and CNC homology 1, basic leucine zipper							74.0	71.0	72.0					6																	90660199		2203	4300	6503	SO:0001819	synonymous_variant	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90660199G>C	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1626C>G	6.37:g.90660199G>C						BACH2_uc003pnw.2_Silent_p.L542L|BACH2_uc010kch.2_Silent_p.L542L	p.L542L	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	2435	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	542					E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	ENST00000257749.4	37	c.1626C>G	CCDS5026.1																																																																																				0.607	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		26	55	0	0	0	0	26	55				
KIAA1919	91749	broad.mit.edu	37	6	111587118	111587118	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:111587118G>A	ENST00000368847.4	+	4	706	c.353G>A	c.(352-354)gGa>gAa	p.G118E		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	118					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GGGGACAAAGGAGCCCCACAT	0.433																																						uc003puv.3		NA																	0				ovary(3)	3						c.(352-354)GGA>GAA		sodium-dependent glucose transporter 1							85.0	89.0	88.0					6																	111587118		2203	4300	6503	SO:0001583	missense	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111587118G>A	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.353G>A	6.37:g.111587118G>A	ENSP00000357840:p.Gly118Glu						p.G118E	NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	4	775	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	118			Cytoplasmic (Potential).		A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	37	c.353G>A	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303573	0.81136	.	.	ENSG00000173214	ENST00000368847	T	0.51071	0.72	5.85	4.97	0.65823	Major facilitator superfamily domain, general substrate transporter (1);	0.049727	0.85682	D	0.000000	T	0.39545	0.1082	L	0.51422	1.61	0.43814	D	0.996377	P	0.47677	0.899	P	0.52424	0.698	T	0.44697	-0.9311	10	0.62326	D	0.03	-0.3553	6.389	0.21576	0.1248:0.3794:0.4958:0.0	.	118	Q5TF39	NAGT1_HUMAN	E	118	ENSP00000357840:G118E	ENSP00000357840:G118E	G	+	2	0	KIAA1919	111693811	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.668000	0.46816	2.774000	0.95407	0.643000	0.83706	GGA		0.433	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		27	70	0	0	0	0	27	70				
UTRN	7402	broad.mit.edu	37	6	144780337	144780337	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:144780337C>T	ENST00000367545.3	+	20	2554	c.2554C>T	c.(2554-2556)Cac>Tac	p.H852Y		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	852	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCTTGGCCTTCACCCCAAAAT	0.507																																						uc003qkt.2		NA																	0				ovary(4)|pancreas(1)	5						c.(2554-2556)CAC>TAC		utrophin							76.0	70.0	72.0					6																	144780337		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144780337C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2554C>T	6.37:g.144780337C>T	ENSP00000356515:p.His852Tyr					UTRN_uc010khq.1_Missense_Mutation_p.H852Y	p.H852Y	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	20	2646	+		Ovarian(120;0.218)	852			Interaction with SYNM.|Spectrin 6.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.2554C>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	5.699	0.313471	0.10789	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.34472	1.36	5.44	-1.23	0.09465	.	1.266840	0.05488	N	0.556079	T	0.07458	0.0188	N	0.19112	0.55	0.09310	N	1	B	0.29508	0.246	B	0.24006	0.05	T	0.32981	-0.9886	10	0.72032	D	0.01	.	2.3203	0.04208	0.3182:0.1799:0.3593:0.1426	.	852	P46939	UTRO_HUMAN	Y	852	ENSP00000356515:H852Y	ENSP00000356499:H852Y	H	+	1	0	UTRN	144822030	0.000000	0.05858	0.006000	0.13384	0.056000	0.15407	-0.158000	0.10070	0.042000	0.15717	-0.284000	0.09977	CAC		0.507	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			4	54	0	0	0	0	4	54				
C1GALT1	56913	broad.mit.edu	37	7	7278194	7278194	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:7278194G>C	ENST00000223122.3	+	2	591	c.529G>C	c.(529-531)Gac>Cac	p.D177H	C1GALT1_ENST00000436587.2_Missense_Mutation_p.D177H|C1GALT1_ENST00000402468.3_Missense_Mutation_p.D177H			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	177					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TGTCATACTAGACAATTTGAG	0.368																																						uc010ktn.2		NA																	0					0						c.(529-531)GAC>CAC		core 1 synthase,							76.0	75.0	75.0					7																	7278194		2202	4300	6502	SO:0001583	missense	56913				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding	g.chr7:7278194G>C	AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"""Beta 3-glycosyltransferases"""	24337	protein-coding gene	gene with protein product	"""core 1 beta3-Gal-T"""	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.529G>C	7.37:g.7278194G>C	ENSP00000223122:p.Asp177His					C1GALT1_uc003sra.2_Missense_Mutation_p.D177H|C1GALT1_uc010kto.1_Missense_Mutation_p.D177H	p.D177H	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	3	752	+			177			Lumenal (Potential).		Q96QH4|Q9BTU1	Missense_Mutation	SNP	ENST00000223122.3	37	c.529G>C	CCDS5355.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409633	0.62399	.	.	ENSG00000106392	ENST00000436587;ENST00000223122;ENST00000402468	T;T;T	0.63417	-0.04;-0.04;-0.04	5.42	5.42	0.78866	.	0.045347	0.85682	D	0.000000	T	0.79488	0.4454	M	0.79926	2.475	0.80722	D	1	D;P	0.62365	0.991;0.948	P;P	0.62560	0.904;0.837	T	0.79766	-0.1665	9	.	.	.	-20.3039	19.6053	0.95577	0.0:0.0:1.0:0.0	.	177;177	Q9NS00-2;Q9NS00	.;C1GLT_HUMAN	H	177	ENSP00000389176:D177H;ENSP00000223122:D177H;ENSP00000384550:D177H	.	D	+	1	0	C1GALT1	7244719	1.000000	0.71417	1.000000	0.80357	0.221000	0.24807	8.011000	0.88624	2.717000	0.92951	0.650000	0.86243	GAC		0.368	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324379.2	NM_020156		8	69	0	0	0	0	8	69				
CDCA7L	55536	broad.mit.edu	37	7	21939660	21939660	+	IGR	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:21939660G>A	ENST00000406877.3	-	0	3066				DNAH11_ENST00000409508.3_Missense_Mutation_p.D4409N|DNAH11_ENST00000328843.6_Missense_Mutation_p.D4416N	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like						positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CTTGACTGCTGATGTTACCAA	0.448																																						uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(13246-13248)GAT>AAT		dynein, axonemal, heavy chain 11							68.0	68.0	68.0					7																	21939660		1896	4104	6000	SO:0001628	intergenic_variant	8701	Kartagener_syndrome			microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21939660G>A		CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429		7.37:g.21939660G>A							p.D4416N	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			82	13277	+			4416					A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Missense_Mutation	SNP	ENST00000406877.3	37	c.13246G>A	CCDS5374.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137652	0.94517	.	.	ENSG00000105877	ENST00000328843	T	0.08984	3.03	5.52	5.52	0.82312	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00704	-1.1602	9	0.56958	D	0.05	.	16.456	0.84012	0.0:0.1308:0.8692:0.0	.	4416	Q96DT5	DYH11_HUMAN	N	4416	ENSP00000330671:D4416N	ENSP00000330671:D4416N	D	+	1	0	DNAH11	21906185	1.000000	0.71417	0.759000	0.31340	0.952000	0.60782	9.819000	0.99357	2.581000	0.87130	0.655000	0.94253	GAT		0.448	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250218.4	NM_018719		13	48	0	0	0	0	13	48				
Unknown	0	broad.mit.edu	37	7	63680190	63680190	+	IGR	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:63680190C>G								GUSBP6 (69091 upstream) : ZNF679 (8661 downstream)																							AGGTGGCCCTCAAACCTTACT	0.453																																						uc011kdn.1		NA																	0					0						c.(760-762)TCA>TGA		zinc finger protein 735							17.0	18.0	17.0					7																	63680190		692	1591	2283	SO:0001628	intergenic_variant	730291				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63680190C>G																													7.37:g.63680190C>G							p.S254*	NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN			4	761	+			254			C2H2-type 4.			Nonsense_Mutation	SNP		37	c.761C>G																																																																																				0	0.453									4	17	0	0	0	0	4	17				
ABCB1	5243	broad.mit.edu	37	7	87148696	87148696	+	Missense_Mutation	SNP	C	C	T	rs144369247	byFrequency	TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:87148696C>T	ENST00000265724.3	-	24	3290	c.2873G>A	c.(2872-2874)cGg>cAg	p.R958Q	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.R894Q	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	958	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GGCTCCAAACCGGAAACATCC	0.383													C|||	2	0.000399361	0.0	0.0	5008	,	,		21852	0.0		0.0	False		,,,				2504	0.002					uc003uiz.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2872-2874)CGG>CAG		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	C	GLN/ARG	0,4406		0,0,2203	95.0	87.0	90.0		2873	4.9	1.0	7	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCB1	NM_000927.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	958/1281	87148696	1,13005	2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87148696C>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2873G>A	7.37:g.87148696C>T	ENSP00000265724:p.Arg958Gln					ABCB1_uc011khc.1_Missense_Mutation_p.R894Q	p.R958Q	NM_000927	NP_000918	P08183	MDR1_HUMAN			24	3291	-	Esophageal squamous(14;0.00164)		958			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2873G>A	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556119	0.65425	0.0	1.16E-4	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.89617	-2.54;-2.54	5.79	4.92	0.64577	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.111652	0.64402	N	0.000013	D	0.87168	0.6110	M	0.73753	2.245	0.44155	D	0.996951	P;P	0.45715	0.672;0.865	B;B	0.35278	0.076;0.199	D	0.87917	0.2701	10	0.56958	D	0.05	-10.1447	14.8877	0.70582	0.0:0.9313:0.0:0.0687	.	894;958	B5AK60;P08183	.;MDR1_HUMAN	Q	739;958;894	ENSP00000265724:R958Q;ENSP00000444095:R894Q	ENSP00000265724:R958Q	R	-	2	0	ABCB1	86986632	0.994000	0.37717	1.000000	0.80357	0.968000	0.65278	3.169000	0.50809	1.459000	0.47892	0.561000	0.74099	CGG		0.383	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		10	60	0	0	0	0	10	60				
ADAM22	53616	broad.mit.edu	37	7	87782587	87782587	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:87782587C>T	ENST00000265727.7	+	21	1812	c.1733C>T	c.(1732-1734)aCg>aTg	p.T578M	ADAM22_ENST00000315984.7_Missense_Mutation_p.T578M|ADAM22_ENST00000398204.4_Missense_Mutation_p.T578M|ADAM22_ENST00000398209.3_Missense_Mutation_p.T578M|ADAM22_ENST00000398201.4_Missense_Mutation_p.T578M			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	578	Cys-rich.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATTGAAGGGACGGAGAAGGGT	0.433																																						uc003ujn.2		NA																	0				ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(1732-1734)ACG>ATG		ADAM metallopeptidase domain 22 isoform 1							114.0	113.0	113.0					7																	87782587		1939	4142	6081	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87782587C>T	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1733C>T	7.37:g.87782587C>T	ENSP00000265727:p.Thr578Met					ADAM22_uc003ujk.1_Missense_Mutation_p.T578M|ADAM22_uc003ujl.1_Missense_Mutation_p.T578M|ADAM22_uc003ujm.2_Missense_Mutation_p.T578M|ADAM22_uc003ujo.2_Missense_Mutation_p.T578M|ADAM22_uc003ujp.1_Missense_Mutation_p.T630M	p.T578M	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		21	1812	+	Esophageal squamous(14;0.00202)		578			Cys-rich.|Extracellular (Potential).		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.1733C>T	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292100	0.80914	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91	5.45	5.45	0.79879	ADAM, cysteine-rich (2);	0.000000	0.85682	D	0.000000	T	0.60625	0.2283	M	0.90542	3.125	0.80722	D	1	D;D;D;D	0.89917	0.998;0.997;0.998;1.0	D;D;D;D	0.91635	0.965;0.94;0.965;0.999	T	0.68872	-0.5294	10	0.72032	D	0.01	.	18.0363	0.89303	0.0:1.0:0.0:0.0	.	630;578;578;578	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	M	578;578;578;578;578;545	ENSP00000381262:T578M;ENSP00000381260:T578M;ENSP00000265727:T578M;ENSP00000315900:T578M;ENSP00000381267:T578M;ENSP00000381261:T545M	ENSP00000265727:T578M	T	+	2	0	ADAM22	87620523	1.000000	0.71417	0.510000	0.27712	0.649000	0.38597	7.376000	0.79658	2.554000	0.86153	0.655000	0.94253	ACG		0.433	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		6	46	0	0	0	0	6	46				
OR2AE1	81392	broad.mit.edu	37	7	99474426	99474426	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:99474426G>A	ENST00000316368.2	-	1	254	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	77			I -> T (in dbSNP:rs2572023).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCTTCAGGATGATTGTGGAGA	0.483																																						uc003usc.1		NA																	0					0						c.(229-231)ATC>ATT		olfactory receptor, family 2, subfamily AE,							114.0	97.0	102.0					7																	99474426		2203	4300	6503	SO:0001819	synonymous_variant	81392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:99474426G>A	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"""GPCR / Class A : Olfactory receptors"""	15087	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily AE, member 2"""	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.231C>T	7.37:g.99474426G>A							p.I77I	NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN			1	231	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		77			Helical; Name=2; (Potential).		B2RPD2	Silent	SNP	ENST00000316368.2	37	c.231C>T	CCDS34696.1																																																																																				0.483	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1			16	71	0	0	0	0	16	71				
MUC17	140453	broad.mit.edu	37	7	100676143	100676143	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:100676143G>A	ENST00000306151.4	+	3	1510	c.1446G>A	c.(1444-1446)caG>caA	p.Q482Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	482	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAAAACTCAGGTGACCACTT	0.473																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(1444-1446)CAG>CAA		mucin 17 precursor							261.0	270.0	267.0					7																	100676143		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676143G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1446G>A	7.37:g.100676143G>A						MUC17_uc010lho.1_RNA	p.Q482Q	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	1499	+	Lung NSC(181;0.136)|all_lung(186;0.182)		482			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|6.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.1446G>A	CCDS34711.1																																																																																				0.473	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		60	407	0	0	0	0	60	407				
SYPL1	6856	broad.mit.edu	37	7	105752650	105752650	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:105752650G>A	ENST00000011473.2	-	2	105	c.59C>T	c.(58-60)tCc>tTc	p.S20F	SYPL1_ENST00000455385.2_Missense_Mutation_p.S2F|SYPL1_ENST00000470347.1_Missense_Mutation_p.S2F	NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	20					synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|integral component of synaptic vesicle membrane (GO:0030285)|secretory granule (GO:0030141)	transporter activity (GO:0005215)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						CTGGAAGCCGGACATCCTCTG	0.682																																						uc003vdp.2		NA																	0					0						c.(58-60)TCC>TTC		synaptophysin-like 1 isoform a							46.0	46.0	46.0					7																	105752650		2203	4300	6503	SO:0001583	missense	6856				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity	g.chr7:105752650G>A		CCDS5736.1, CCDS47685.1	7q22.2	2005-05-24	2005-05-24	2005-05-24	ENSG00000008282	ENSG00000008282			11507	protein-coding gene	gene with protein product			"""synaptophysin-like protein"""	SYPL			Standard	NM_006754		Approved		uc003vdp.4	Q16563	OTTHUMG00000157587	ENST00000011473.2:c.59C>T	7.37:g.105752650G>A	ENSP00000011473:p.Ser20Phe					SYPL1_uc003vdo.2_Missense_Mutation_p.S2F	p.S20F	NM_006754	NP_006745	Q16563	SYPL1_HUMAN			2	141	-			20			Cytoplasmic (Potential).		A4D0R2|Q96AR8	Missense_Mutation	SNP	ENST00000011473.2	37	c.59C>T	CCDS5736.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.000742	0.35320	.	.	ENSG00000008282	ENST00000455385;ENST00000011473;ENST00000470347	T;T;T	0.34275	1.38;1.37;1.39	4.27	3.36	0.38483	.	0.401302	0.25478	N	0.030391	T	0.34019	0.0883	M	0.67397	2.05	0.29882	N	0.825908	B	0.12013	0.005	B	0.08055	0.003	T	0.33343	-0.9872	10	0.54805	T	0.06	0.6412	8.6573	0.34071	0.1163:0.0:0.8837:0.0	.	20	Q16563	SYPL1_HUMAN	F	2;20;2	ENSP00000388336:S2F;ENSP00000011473:S20F;ENSP00000419070:S2F	ENSP00000011473:S20F	S	-	2	0	SYPL1	105539886	1.000000	0.71417	0.997000	0.53966	0.561000	0.35649	1.141000	0.31528	2.077000	0.62373	0.591000	0.81541	TCC		0.682	SYPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349221.1			7	53	0	0	0	0	7	53				
CNOT4	4850	broad.mit.edu	37	7	135098284	135098284	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:135098284G>A	ENST00000315544.5	-	6	919	c.640C>T	c.(640-642)Cat>Tat	p.H214Y	CNOT4_ENST00000423368.2_Missense_Mutation_p.H214Y|CNOT4_ENST00000451834.1_Missense_Mutation_p.H214Y|CNOT4_ENST00000361528.4_Missense_Mutation_p.H214Y|CNOT4_ENST00000414802.1_Missense_Mutation_p.H214Y|CNOT4_ENST00000356162.4_Missense_Mutation_p.H214Y|CNOT4_ENST00000541284.1_Missense_Mutation_p.H214Y|CNOT4_ENST00000428680.2_Missense_Mutation_p.H214Y	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	214					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CCCAATTCATGAAGATACATG	0.408																																					Ovarian(51;766 1130 5502 35047 50875)	uc003vsv.1		NA																	0					0						c.(640-642)CAT>TAT		CCR4-NOT transcription complex, subunit 4							128.0	118.0	121.0					7																	135098284		1859	4108	5967	SO:0001583	missense	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135098284G>A	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.640C>T	7.37:g.135098284G>A	ENSP00000326731:p.His214Tyr					CNOT4_uc003vss.2_Missense_Mutation_p.H214Y|CNOT4_uc011kpz.1_Missense_Mutation_p.H214Y|CNOT4_uc003vst.2_Missense_Mutation_p.H214Y|CNOT4_uc003vsu.1_Missense_Mutation_p.H214Y|CNOT4_uc011kpy.1_Missense_Mutation_p.H214Y	p.H214Y	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN			6	947	-			214			C3H1-type.		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	c.640C>T	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691663	0.88735	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	T;T;T;T;T;T;T;T	0.76186	-0.9;-0.95;-0.83;-0.89;-0.78;-0.78;-1.0;-0.94	5.95	5.95	0.96441	Zinc finger, CCCH-type (1);	0.000000	0.85682	D	0.000000	D	0.89849	0.6834	M	0.91612	3.225	0.80722	D	1	D;D;D;D;P;D	0.89917	1.0;1.0;0.998;0.998;0.908;0.989	D;D;D;D;P;D	0.78314	0.98;0.991;0.92;0.942;0.888;0.969	D	0.90977	0.4824	10	0.87932	D	0	-3.9321	20.3789	0.98926	0.0:0.0:1.0:0.0	.	214;214;214;214;214;214	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	Y	214	ENSP00000445508:H214Y;ENSP00000388491:H214Y;ENSP00000406777:H214Y;ENSP00000354673:H214Y;ENSP00000416532:H214Y;ENSP00000348485:H214Y;ENSP00000399108:H214Y;ENSP00000326731:H214Y	ENSP00000262563:H214Y	H	-	1	0	CNOT4	134748824	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.496000	0.97967	2.826000	0.97356	0.563000	0.77884	CAT		0.408	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		12	84	0	0	0	0	12	84				
ATP6V0A4	50617	broad.mit.edu	37	7	138418934	138418934	+	Silent	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr7:138418934G>A	ENST00000310018.2	-	16	1920	c.1638C>T	c.(1636-1638)atC>atT	p.I546I	ATP6V0A4_ENST00000393054.1_Silent_p.I546I|ATP6V0A4_ENST00000353492.4_Silent_p.I546I	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	546					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAATTCCCAGGATCACCGACA	0.428																																						uc003vuf.2		NA																	0				pancreas(1)	1						c.(1636-1638)ATC>ATT		ATPase, H+ transporting, lysosomal V0 subunit							167.0	141.0	150.0					7																	138418934		2203	4300	6503	SO:0001819	synonymous_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138418934G>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1638C>T	7.37:g.138418934G>A						ATP6V0A4_uc003vug.2_Silent_p.I546I|ATP6V0A4_uc003vuh.2_Silent_p.I546I	p.I546I	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			15	1876	-			546			Helical; (Potential).		A4D1R4|A8KA80|Q32M47	Silent	SNP	ENST00000310018.2	37	c.1638C>T	CCDS5849.1																																																																																				0.428	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		7	49	0	0	0	0	7	49				
MTMR7	9108	broad.mit.edu	37	8	17157648	17157648	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:17157648G>C	ENST00000180173.5	-	14	1740	c.1706C>G	c.(1705-1707)tCt>tGt	p.S569C	MTMR7_ENST00000398099.3_Missense_Mutation_p.S160C	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	569					inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GTCTGAGGTAGAAAACCCTGA	0.438																																						uc003wxm.2		NA																	0				skin(1)	1						c.(1705-1707)TCT>TGT		myotubularin related protein 7							182.0	187.0	186.0					8																	17157648		2203	4300	6503	SO:0001583	missense	9108						protein tyrosine phosphatase activity	g.chr8:17157648G>C	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.1706C>G	8.37:g.17157648G>C	ENSP00000180173:p.Ser569Cys					MTMR7_uc011kya.1_Missense_Mutation_p.S203C|MTMR7_uc011kyb.1_Missense_Mutation_p.S160C	p.S569C	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	14	1945	-			569					A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	c.1706C>G	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325099	0.41197	.	.	ENSG00000003987	ENST00000180173;ENST00000398099	T;T	0.53423	0.62;0.62	5.28	5.28	0.74379	.	0.641843	0.17487	N	0.172490	T	0.38746	0.1052	L	0.36672	1.1	0.37571	D	0.919453	B	0.06786	0.001	B	0.04013	0.001	T	0.34976	-0.9807	10	0.54805	T	0.06	.	11.3327	0.49485	0.0:0.1357:0.7236:0.1407	.	569	Q9Y216	MTMR7_HUMAN	C	569;160	ENSP00000180173:S569C;ENSP00000381171:S160C	ENSP00000180173:S569C	S	-	2	0	MTMR7	17202019	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	2.675000	0.46875	2.645000	0.89757	0.591000	0.81541	TCT		0.438	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		25	155	0	0	0	0	25	155				
IDO1	3620	broad.mit.edu	37	8	39781060	39781060	+	Missense_Mutation	SNP	G	G	C	rs369075008		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:39781060G>C	ENST00000518237.1	+	7	1249	c.610G>C	c.(610-612)Gct>Cct	p.A204P	IDO1_ENST00000522495.1_Missense_Mutation_p.A204P|RP11-44K6.4_ENST00000522970.1_RNA|RP11-44K6.3_ENST00000517623.1_RNA	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	204					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	GTTGGAAATAGCTTCTTGCTT	0.423																																						uc003xnm.2		NA																	0				central_nervous_system(2)	2						c.(610-612)GCT>CCT		indoleamine 2,3-dioxygenase 1	L-Tryptophan(DB00150)						87.0	88.0	88.0					8																	39781060		1899	4140	6039	SO:0001583	missense	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39781060G>C	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.610G>C	8.37:g.39781060G>C	ENSP00000430950:p.Ala204Pro					IDO1_uc003xnn.2_RNA	p.A204P	NM_002164	NP_002155	P14902	I23O1_HUMAN			7	724	+			204					Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	c.610G>C	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618923	0.46736	.	.	ENSG00000131203	ENST00000522495;ENST00000518237	T;T	0.52526	0.66;0.66	4.86	-4.06	0.03986	.	1.534230	0.03735	N	0.254093	T	0.67590	0.2909	M	0.87900	2.915	0.09310	N	1	D	0.69078	0.997	D	0.76071	0.987	T	0.62300	-0.6883	9	.	.	.	0.3038	4.3967	0.11367	0.4181:0.0:0.3393:0.2426	.	204	P14902	I23O1_HUMAN	P	204	ENSP00000430505:A204P;ENSP00000430950:A204P	.	A	+	1	0	IDO1	39900217	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.257000	0.08745	-0.946000	0.03677	0.557000	0.71058	GCT		0.423	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164		6	45	0	0	0	0	6	45				
RB1CC1	9821	broad.mit.edu	37	8	53570373	53570373	+	Silent	SNP	T	T	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:53570373T>A	ENST00000025008.5	-	15	2539	c.2016A>T	c.(2014-2016)ccA>ccT	p.P672P	RB1CC1_ENST00000539297.1_Silent_p.P672P|RB1CC1_ENST00000435644.2_Silent_p.P672P|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	672					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAGTCAGTGGTGGAGGAGTTC	0.443																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.3		NA																	0				ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11						c.(2014-2016)CCA>CCT		Rb1-inducible coiled coil protein 1 isoform 1							82.0	83.0	83.0					8																	53570373		2203	4300	6503	SO:0001819	synonymous_variant	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53570373T>A	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.2016A>T	8.37:g.53570373T>A						RB1CC1_uc003xrf.3_Silent_p.P672P	p.P672P	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			15	2574	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	672					Q86YR4|Q8WVU9|Q92601	Silent	SNP	ENST00000025008.5	37	c.2016A>T	CCDS34892.1																																																																																				0.443	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		10	70	0	0	0	0	10	70				
EYA1	2138	broad.mit.edu	37	8	72267089	72267089	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:72267089C>T	ENST00000340726.3	-	3	691	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	EYA1_ENST00000303824.7_Missense_Mutation_p.E18K|EYA1_ENST00000388742.4_Missense_Mutation_p.E18K|EYA1_ENST00000388741.2_Intron|EYA1_ENST00000419131.1_Missense_Mutation_p.E18K|EYA1_ENST00000388743.2_Missense_Mutation_p.E18K|EYA1_ENST00000388740.3_Intron	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	18					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTGGGGGATTCACTACTACCA	0.453																																						uc003xys.3		NA																	0				ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	5						c.(52-54)GAA>AAA		eyes absent 1 isoform b							170.0	171.0	171.0					8																	72267089		2203	4300	6503	SO:0001583	missense	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72267089C>T	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.52G>A	8.37:g.72267089C>T	ENSP00000342626:p.Glu18Lys					EYA1_uc003xyr.3_Missense_Mutation_p.E18K|EYA1_uc003xyt.3_Intron|EYA1_uc010lzf.2_5'UTR|EYA1_uc003xyu.2_Missense_Mutation_p.E18K|EYA1_uc011lfe.1_Missense_Mutation_p.E18K|EYA1_uc003xyv.2_5'UTR	p.E18K	NM_172058	NP_742055	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		2	339	-	Breast(64;0.046)		18					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Missense_Mutation	SNP	ENST00000340726.3	37	c.52G>A	CCDS34906.1	.	.	.	.	.	.	.	.	.	.	C	35	5.472347	0.96274	.	.	ENSG00000104313	ENST00000388742;ENST00000340726;ENST00000303824;ENST00000388743;ENST00000419131	T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06	5.69	5.69	0.88448	.	0.095263	0.64402	D	0.000001	T	0.46092	0.1375	N	0.14661	0.345	0.80722	D	1	B;B;B	0.32526	0.119;0.119;0.374	B;B;B	0.29267	0.067;0.067;0.1	T	0.39542	-0.9609	10	0.15952	T	0.53	-12.6213	19.8148	0.96562	0.0:1.0:0.0:0.0	.	18;18;18	A6NCB9;Q99502;G5E9R4	.;EYA1_HUMAN;.	K	18	ENSP00000373394:E18K;ENSP00000342626:E18K;ENSP00000303221:E18K;ENSP00000373395:E18K;ENSP00000410176:E18K	ENSP00000303221:E18K	E	-	1	0	EYA1	72429643	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.818000	0.86416	2.687000	0.91594	0.650000	0.86243	GAA		0.453	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	NM_000503, NM_172060		29	188	0	0	0	0	29	188				
E2F5	1875	broad.mit.edu	37	8	86114424	86114424	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:86114424G>A	ENST00000416274.2	+	2	311	c.277G>A	c.(277-279)Gat>Aat	p.D93N	E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.D93N|E2F5_ENST00000418930.2_Missense_Mutation_p.D93N|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_5'UTR	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	93	Leucine-zipper.				gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GAGAATTTATGATATCACCAA	0.383																																						uc003ycz.3		NA																	0				ovary(1)	1						c.(277-279)GAT>AAT		E2F transcription factor 5 isoform 1							92.0	87.0	89.0					8																	86114424		1866	4091	5957	SO:0001583	missense	1875				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr8:86114424G>A	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.277G>A	8.37:g.86114424G>A	ENSP00000398124:p.Asp93Asn					E2F5_uc003yda.3_Missense_Mutation_p.D93N|E2F5_uc010mab.2_5'UTR	p.D93N	NM_001951	NP_001942	Q15329	E2F5_HUMAN			2	314	+			93			Potential.|DEF box.|Leucine-zipper.		E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	37	c.277G>A	CCDS47885.1	.	.	.	.	.	.	.	.	.	.	G	36	5.789490	0.96945	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274	T;T;T	0.47528	0.87;0.84;0.85	6.07	6.07	0.98685	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.84687	0.5527	H	0.99764	4.76	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90854	0.4733	10	0.87932	D	0	-28.2049	20.6593	0.99626	0.0:0.0:1.0:0.0	.	93;93	Q15329-2;Q15329	.;E2F5_HUMAN	N	93	ENSP00000414312:D93N;ENSP00000256117:D93N;ENSP00000398124:D93N	ENSP00000256117:D93N	D	+	1	0	E2F5	86301676	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.845000	0.99498	2.885000	0.99019	0.655000	0.94253	GAT		0.383	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		6	35	0	0	0	0	6	35				
FZD6	8323	broad.mit.edu	37	8	104336827	104336827	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:104336827C>G	ENST00000358755.4	+	4	810	c.493C>G	c.(493-495)Ctt>Gtt	p.L165V	FZD6_ENST00000540287.1_Intron|FZD6_ENST00000522566.1_Missense_Mutation_p.L165V|FZD6_ENST00000523739.1_Missense_Mutation_p.L133V	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled class receptor 6	165					angiogenesis (GO:0001525)|axonogenesis (GO:0007409)|cell proliferation in midbrain (GO:0033278)|embryonic nail plate morphogenesis (GO:0035880)|establishment of planar polarity (GO:0001736)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|platelet activation (GO:0030168)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			TCCAAGGCATCTTAAGACTTC	0.428																																						uc003ylh.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(493-495)CTT>GTT		frizzled 6 isoform a precursor							80.0	89.0	86.0					8																	104336827		2203	4300	6503	SO:0001583	missense	8323				angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:104336827C>G	AB012911	CCDS6298.1, CCDS55268.1	8q22.3-q23.1	2014-01-29	2014-01-29		ENSG00000164930	ENSG00000164930		"""GPCR / Class F : Frizzled receptors"""	4044	protein-coding gene	gene with protein product		603409	"""frizzled (Drosophila) homolog 6"", ""frizzled homolog 6 (Drosophila)"", ""frizzled 6, seven transmembrane spanning receptor"", ""frizzled family receptor 6"""			9480858, 14747478	Standard	NM_003506		Approved	Hfz6	uc003ylh.3	O60353	OTTHUMG00000164840	ENST00000358755.4:c.493C>G	8.37:g.104336827C>G	ENSP00000351605:p.Leu165Val					FZD6_uc003yli.2_Missense_Mutation_p.L165V|FZD6_uc003ylj.2_Missense_Mutation_p.L165V|FZD6_uc011lhn.1_Missense_Mutation_p.L131V|FZD6_uc011lho.1_Intron|FZD6_uc011lhp.1_Missense_Mutation_p.L110V	p.L165V	NM_003506	NP_003497	O60353	FZD6_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)		4	777	+			165			Extracellular (Potential).		B4DRN0|Q6N0A5|Q6P9C3|Q8WXR9	Missense_Mutation	SNP	ENST00000358755.4	37	c.493C>G	CCDS6298.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334989	0.60853	.	.	ENSG00000164930	ENST00000522566;ENST00000358755;ENST00000523739;ENST00000539487	T;T;T	0.79749	-1.27;-1.27;-1.3	5.8	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.89371	0.6696	M	0.79693	2.465	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.78314	0.981;0.991;0.981	D	0.89429	0.3715	10	0.51188	T	0.08	.	15.2697	0.73689	0.0:0.9316:0.0:0.0684	.	110;165;165	B4E236;B2R9H9;O60353	.;.;FZD6_HUMAN	V	165;165;133;110	ENSP00000429055:L165V;ENSP00000351605:L165V;ENSP00000429528:L133V	ENSP00000351605:L165V	L	+	1	0	FZD6	104406003	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.437000	0.44828	2.745000	0.94114	0.491000	0.48974	CTT		0.428	FZD6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380560.1	NM_003506		22	139	0	0	0	0	22	139				
TG	7038	broad.mit.edu	37	8	133885398	133885398	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:133885398G>C	ENST00000220616.4	+	5	610	c.570G>C	c.(568-570)atG>atC	p.M190I	TG_ENST00000377869.1_Missense_Mutation_p.M190I	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	190	Thyroglobulin type-1 3. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGAGTTTATGCCTGTCCAGT	0.502																																						uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(568-570)ATG>ATC		thyroglobulin precursor							155.0	122.0	133.0					8																	133885398		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133885398G>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.570G>C	8.37:g.133885398G>C	ENSP00000220616:p.Met190Ile						p.M190I	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	5	611	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	190			Thyroglobulin type-1 3.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.570G>C	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536608	0.45176	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	D;D	0.82081	-1.57;-1.57	5.84	4.91	0.64330	Thyroglobulin type-1 (3);	0.972229	0.08508	N	0.935415	T	0.79868	0.4520	L	0.44542	1.39	0.28790	N	0.899346	B	0.27450	0.179	B	0.22386	0.039	T	0.71533	-0.4564	10	0.62326	D	0.03	.	14.8513	0.70297	0.0:0.0:0.8559:0.1441	.	190	P01266	THYG_HUMAN	I	190	ENSP00000367100:M190I;ENSP00000220616:M190I	ENSP00000220616:M190I	M	+	3	0	TG	133954580	1.000000	0.71417	0.777000	0.31699	0.838000	0.47535	2.662000	0.46766	2.768000	0.95171	0.561000	0.74099	ATG		0.502	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		8	55	0	0	0	0	8	55				
CDKN2A	1029	broad.mit.edu	37	9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr9:21971029C>T	ENST00000304494.5	-	2	599	c.329G>A	c.(328-330)tGg>tAg	p.W110*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000361570.3_Silent_p.L165L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1380	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(13)|Deletion - Frameshift(5)|Substitution - coding silent(2)	p.0?(1112)|p.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(1)	haematopoietic_and_lymphoid_tissue(283)|skin(177)|central_nervous_system(167)|lung(148)|urinary_tract(91)|bone(74)|soft_tissue(57)|oesophagus(52)|upper_aerodigestive_tract(52)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(328-330)TGG>TAG		cyclin-dependent kinase inhibitor 2A isoform 1							18.0	20.0	20.0					9																	21971029		2198	4294	6492	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971029C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.329G>A	9.37:g.21971029C>T	ENSP00000307101:p.Trp110*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.L165L	p.W110*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	541	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	110			ANK 4.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.329G>A	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	37	6.223773	0.97390	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	5.93	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.50632	D	0.999889	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-14.7138	7.5355	0.27708	0.2896:0.6341:0.0:0.0762	.	.	.	.	X	110	.	ENSP00000307101:W110X	W	-	2	0	CDKN2A	21961029	0.001000	0.12720	0.995000	0.50966	0.918000	0.54935	0.120000	0.15647	2.808000	0.96608	0.655000	0.94253	TGG		0.731	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		5	25	0	0	0	0	5	25				
NPR2	4882	broad.mit.edu	37	9	35810671	35810671	+	IGR	SNP	C	C	T			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr9:35810671C>T	ENST00000342694.2	+	0	3686				HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000396638.2_Missense_Mutation_p.E350K|SPAG8_ENST00000340291.2_Missense_Mutation_p.E350K|SPAG8_ENST00000484764.1_Missense_Mutation_p.E348K|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000479751.1_5'UTR	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AGCATGGCTTCACGCTTCCCT	0.527																																						uc003zye.2		NA																	0				ovary(1)	1						c.(1048-1050)GAA>AAA		sperm associated antigen 8 isoform 2							50.0	49.0	49.0					9																	35810671		2203	4300	6503	SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35810671C>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35810671C>T						SPAG8_uc003zyf.2_Missense_Mutation_p.E267K|SPAG8_uc003zyg.2_Missense_Mutation_p.E350K	p.E350K	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		4	1163	-	all_epithelial(49;0.161)		350					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.1048G>A	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805540	0.70682	.	.	ENSG00000137098	ENST00000340291;ENST00000484764;ENST00000396638	T;T;T	0.38887	1.14;1.12;1.11	5.72	5.72	0.89469	.	0.166874	0.38837	N	0.001553	T	0.57695	0.2071	L	0.59436	1.845	0.35127	D	0.767582	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.66999	-0.5781	10	0.51188	T	0.08	-16.116	10.8688	0.46870	0.0:0.9148:0.0:0.0852	.	350;350	E9PDV6;Q99932-2	.;.	K	350;348;350	ENSP00000340982:E350K;ENSP00000418072:E348K;ENSP00000379878:E350K	ENSP00000340982:E350K	E	-	1	0	SPAG8	35800671	0.995000	0.38212	1.000000	0.80357	0.928000	0.56348	3.192000	0.50989	2.691000	0.91804	0.655000	0.94253	GAA		0.527	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			5	48	0	0	0	0	5	48				
PRUNE2	158471	broad.mit.edu	37	9	79318700	79318700	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr9:79318700G>A	ENST00000376718.3	-	9	7952	c.7829C>T	c.(7828-7830)tCt>tTt	p.S2610F	PRUNE2_ENST00000428286.1_Missense_Mutation_p.S2251F	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2610					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTTCTCTGCAGAGAGACCTTT	0.453																																						uc010mpk.2		NA																	0					0						c.(7828-7830)TCT>TTT		prune homolog 2							83.0	76.0	78.0					9																	79318700		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79318700G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7829C>T	9.37:g.79318700G>A	ENSP00000365908:p.Ser2610Phe					PRUNE2_uc004akj.3_Missense_Mutation_p.S63F|PRUNE2_uc010mpl.1_Missense_Mutation_p.S63F	p.S2610F	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			9	7953	-			2610					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.7829C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	6.456	0.452274	0.12283	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.50813	0.73;0.74	5.87	4.03	0.46877	.	0.371554	0.23536	N	0.047135	T	0.36635	0.0974	L	0.39397	1.21	0.19300	N	0.99997	B;B	0.24533	0.051;0.105	B;B	0.21917	0.037;0.026	T	0.32241	-0.9914	10	0.59425	D	0.04	-3.7745	7.6065	0.28105	0.1392:0.0:0.7272:0.1336	.	2610;2610	Q8WUY3-3;Q8WUY3	.;PRUN2_HUMAN	F	2610;2251;2609	ENSP00000365908:S2610F;ENSP00000397425:S2251F	ENSP00000365908:S2610F	S	-	2	0	PRUNE2	78508520	0.077000	0.21312	0.024000	0.17045	0.057000	0.15508	1.331000	0.33793	0.820000	0.34516	0.591000	0.81541	TCT		0.453	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		13	90	0	0	0	0	13	90				
TRUB2	26995	broad.mit.edu	37	9	131084698	131084698	+	5'UTR	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr9:131084698C>A	ENST00000372890.4	-	0	323				COQ4_ENST00000300452.3_5'Flank|COQ4_ENST00000608951.1_5'Flank|TRUB2_ENST00000460320.1_5'Flank|COQ4_ENST00000372875.3_5'Flank|COQ4_ENST00000609948.1_5'Flank|TRUB2_ENST00000546104.1_5'Flank	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2						pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						ACTTGAAGATCACAGCACCCG	0.622																																						uc004buq.1		NA																	0				ovary(1)	1						c.e1-1		TruB pseudouridine (psi) synthase homolog 2							45.0	51.0	49.0					9																	131084698		2203	4300	6503	SO:0001623	5_prime_UTR_variant	26995				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr9:131084698C>A	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.-11G>T	9.37:g.131084698C>A						COQ4_uc011max.1_5'Flank|COQ4_uc004bur.3_5'Flank|COQ4_uc004bus.2_5'Flank|COQ4_uc010mxy.2_5'Flank		NM_015679	NP_056494	O95900	TRUB2_HUMAN			1	1	-								B7Z7G5	Splice_Site	SNP	ENST00000372890.4	37	c.-9_splice	CCDS6897.1																																																																																				0.622	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		13	49	1	0	0.000151284	0.000159609	13	49				
EDF1	8721	broad.mit.edu	37	9	139757370	139757370	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr9:139757370C>G	ENST00000224073.1	-	4	400	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	EDF1_ENST00000371649.1_Missense_Mutation_p.E125Q|EDF1_ENST00000371648.4_Missense_Mutation_p.E125Q	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	125	HTH cro/C1-type. {ECO:0000255|PROSITE- ProRule:PRU00257}.				endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		ATGGCCCGCTCGATTTTGCCA	0.582																																						uc004cjt.1		NA																	0					0						c.(373-375)GAG>CAG		endothelial differentiation-related factor 1							144.0	104.0	118.0					9																	139757370		2203	4300	6503	SO:0001583	missense	8721				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|protein binding|sequence-specific DNA binding|transcription coactivator activity	g.chr9:139757370C>G	AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"""multiprotein bridging factor-1"""	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948	ENST00000224073.1:c.373G>C	9.37:g.139757370C>G	ENSP00000224073:p.Glu125Gln					EDF1_uc004cju.1_Missense_Mutation_p.E125Q	p.E125Q	NM_003792	NP_003783	O60869	EDF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	4	401	-	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)	125			HTH cro/C1-type.		Q5T5T2|Q9UIM1	Missense_Mutation	SNP	ENST00000224073.1	37	c.373G>C	CCDS7011.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427736	0.83667	.	.	ENSG00000107223	ENST00000371649;ENST00000224073;ENST00000371648	.	.	.	5.65	5.65	0.86999	Lambda repressor-like, DNA-binding (2);Helix-turn-helix type 3 (3);	0.050152	0.85682	N	0.000000	D	0.83257	0.5215	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84635	0.0692	9	0.87932	D	0	.	19.7074	0.96079	0.0:1.0:0.0:0.0	.	125;125	O60869-2;O60869	.;EDF1_HUMAN	Q	125	.	ENSP00000224073:E125Q	E	-	1	0	EDF1	138877191	0.999000	0.42202	1.000000	0.80357	0.336000	0.28762	7.196000	0.77805	2.667000	0.90743	0.655000	0.94253	GAG		0.582	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055143.1			12	83	0	0	0	0	12	83				
DMD	1756	broad.mit.edu	37	X	31986458	31986458	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:31986458C>G	ENST00000357033.4	-	45	6818	c.6612G>C	c.(6610-6612)aaG>aaC	p.K2204N	DMD_ENST00000541735.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.K2200N|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000343523.2_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2204					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CGCCCTACCTCTTTTTTCTGT	0.398																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(6610-6612)AAG>AAC		dystrophin Dp427m isoform							114.0	108.0	110.0					X																	31986458		2202	4299	6501	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31986458C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6612G>C	X.37:g.31986458C>G	ENSP00000354923:p.Lys2204Asn					DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.K860N|DMD_uc004dcx.2_Missense_Mutation_p.K863N|DMD_uc004dcz.2_Missense_Mutation_p.K2081N|DMD_uc004dcy.1_Missense_Mutation_p.K2200N|DMD_uc004ddb.1_Missense_Mutation_p.K2196N|DMD_uc010ngo.1_Missense_Mutation_p.K113N|DMD_uc010ngn.1_Intron	p.K2204N	NM_004006	NP_003997	P11532	DMD_HUMAN			45	6856	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2204			Spectrin 15.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.6612G>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873346	0.33069	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.51325	0.71;0.71	5.37	4.5	0.54988	.	0.000000	0.36555	U	0.002536	T	0.39118	0.1066	L	0.34521	1.04	0.80722	D	1	B;P;P;P;P;P	0.47191	0.024;0.527;0.891;0.582;0.611;0.713	B;B;B;B;B;P	0.44897	0.018;0.154;0.412;0.239;0.419;0.463	T	0.14504	-1.0470	10	0.40728	T	0.16	.	9.6371	0.39817	0.0:0.8368:0.0:0.1632	.	863;2196;2204;2200;863;860	P11532-2;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;.;DMD_HUMAN;.;.;.	N	2196;863;860;2200;2204;2204;2081	ENSP00000367948:K2200N;ENSP00000354923:K2204N	ENSP00000354923:K2204N	K	-	3	2	DMD	31896379	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	3.123000	0.50453	1.046000	0.40249	0.538000	0.68166	AAG		0.398	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		17	180	0	0	0	0	17	180				
ZNF182	7569	broad.mit.edu	37	X	47837082	47837082	+	Missense_Mutation	SNP	C	C	G	rs140603964		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:47837082C>G	ENST00000396965.1	-	7	754	c.404G>C	c.(403-405)cGt>cCt	p.R135P	ZNF182_ENST00000376943.3_Missense_Mutation_p.R116P|ZNF182_ENST00000305127.6_Missense_Mutation_p.R135P	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						ATGACAGTCACGAGCACTCTT	0.378																																						uc004dir.2		NA																	0				ovary(2)|lung(1)	3						c.(403-405)CGT>CCT		zinc finger protein 21 isoform 1							98.0	85.0	90.0					X																	47837082		2203	4300	6503	SO:0001583	missense	7569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47837082C>G	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.404G>C	X.37:g.47837082C>G	ENSP00000380165:p.Arg135Pro					ZNF182_uc004dis.2_Missense_Mutation_p.R116P|ZNF182_uc004dit.2_Missense_Mutation_p.R135P|ZNF182_uc011mlu.1_Missense_Mutation_p.R115P	p.R135P	NM_006962	NP_008893	P17025	ZN182_HUMAN			7	750	-			135					A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	ENST00000396965.1	37	c.404G>C	CCDS35236.1	.	.	.	.	.	.	.	.	.	.	C	0.056	-1.235897	0.01505	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.06933	3.24;3.24;3.24	3.95	-4.94	0.03057	.	.	.	.	.	T	0.03827	0.0108	N	0.12182	0.205	0.09310	N	1	B;B;B	0.18013	0.025;0.025;0.0	B;B;B	0.27380	0.079;0.079;0.0	T	0.43114	-0.9411	9	0.39692	T	0.17	.	2.0562	0.03582	0.1287:0.3371:0.1296:0.4046	.	115;116;135	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	P	116;135;135	ENSP00000366142:R116P;ENSP00000380165:R135P;ENSP00000306351:R135P	ENSP00000306351:R135P	R	-	2	0	ZNF182	47722026	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.457000	0.06745	-1.252000	0.02491	-0.306000	0.09157	CGT		0.378	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277055.1	NM_006962		14	85	0	0	0	0	14	85				
TBC1D25	4943	broad.mit.edu	37	X	48417355	48417355	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:48417355G>C	ENST00000376771.4	+	4	800	c.459G>C	c.(457-459)gaG>gaC	p.E153D	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000476141.1_3'UTR|TBC1D25_ENST00000537536.1_Intron	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	153					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGCTGGCTGAGAAACGGTCAT	0.537																																						uc004dka.1		NA																	0				ovary(1)	1						c.(457-459)GAG>GAC		TBC1 domain family, member 25							114.0	84.0	94.0					X																	48417355		2203	4300	6503	SO:0001583	missense	4943					intracellular	Rab GTPase activator activity	g.chrX:48417355G>C	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.459G>C	X.37:g.48417355G>C	ENSP00000365962:p.Glu153Asp					TBC1D25_uc011mly.1_Missense_Mutation_p.E95D|TBC1D25_uc004dkb.1_5'UTR|TBC1D25_uc011mlz.1_5'UTR|TBC1D25_uc011mma.1_Intron|TBC1D25_uc004dkc.1_5'UTR|TBC1D25_uc011mmb.1_Missense_Mutation_p.E157D|TBC1D25_uc011mmc.1_5'UTR|TBC1D25_uc011mmd.1_Intron	p.E153D	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN			4	570	+			153					Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	c.459G>C	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692480	0.30052	.	.	ENSG00000068354	ENST00000376771;ENST00000418627	T;T	0.46451	0.87;0.87	5.54	3.75	0.43078	.	0.057291	0.64402	N	0.000002	T	0.28300	0.0699	L	0.41236	1.265	0.80722	D	1	B;B;B	0.26547	0.091;0.152;0.041	B;B;B	0.18263	0.013;0.021;0.013	T	0.05632	-1.0873	10	0.17832	T	0.49	-11.2655	7.5358	0.27710	0.0887:0.3084:0.6029:0.0	.	157;95;153	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	D	153;169	ENSP00000365962:E153D;ENSP00000402268:E169D	ENSP00000365962:E153D	E	+	3	2	TBC1D25	48302299	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.483000	0.53194	0.592000	0.29728	0.600000	0.82982	GAG		0.537	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		6	68	0	0	0	0	6	68				
AMER1	139285	broad.mit.edu	37	X	63412536	63412536	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:63412536C>A	ENST00000330258.3	-	2	903	c.631G>T	c.(631-633)Gcc>Tcc	p.A211S	AMER1_ENST00000374869.3_Missense_Mutation_p.A211S|AMER1_ENST00000403336.1_Missense_Mutation_p.A211S	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	211					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									ACCTGAGGGGCTGAGCTCACG	0.597																																						uc004dvo.2		NA																	67	Whole gene deletion(67)	p.0?(40)	kidney(65)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(631-633)GCC>TCC		family with sequence similarity 123B							50.0	46.0	47.0					X																	63412536		2202	4297	6499	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63412536C>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.631G>T	X.37:g.63412536C>A	ENSP00000329117:p.Ala211Ser						p.A211S	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	904	-			211					A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.631G>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	3.294	-0.144400	0.06627	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.18016	2.24;2.24;2.24	5.13	1.19	0.21007	.	1.321610	0.04815	N	0.435942	T	0.17831	0.0428	M	0.62723	1.935	0.09310	N	1	B	0.09022	0.002	B	0.15484	0.013	T	0.32375	-0.9909	10	0.23891	T	0.37	0.0364	3.7919	0.08724	0.2927:0.4491:0.0:0.2582	.	211	Q5JTC6	F123B_HUMAN	S	211	ENSP00000364003:A211S;ENSP00000329117:A211S;ENSP00000384722:A211S	ENSP00000329117:A211S	A	-	1	0	FAM123B	63329261	0.000000	0.05858	0.001000	0.08648	0.152000	0.21847	-0.450000	0.06803	-0.020000	0.14032	0.600000	0.82982	GCC		0.597	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		13	89	1	0	1.5e-05	1.6e-05	13	89				
MED12	9968	broad.mit.edu	37	X	70346843	70346843	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:70346843G>C	ENST00000374080.3	+	20	2742	c.2710G>C	c.(2710-2712)Gag>Cag	p.E904Q	MED12_ENST00000333646.6_Missense_Mutation_p.E904Q|MED12_ENST00000374102.1_Missense_Mutation_p.E904Q|MED12_ENST00000462984.1_3'UTR			Q93074	MED12_HUMAN	mediator complex subunit 12	904					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GAGTGTAGTTGAGGCTGAGCT	0.542			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2		NA		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(2710-2712)GAG>CAG		mediator complex subunit 12							104.0	95.0	98.0					X																	70346843		2094	4198	6292	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70346843G>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2710G>C	X.37:g.70346843G>C	ENSP00000363193:p.Glu904Gln					MED12_uc011mpq.1_Missense_Mutation_p.E904Q|MED12_uc004dyz.2_Missense_Mutation_p.E904Q|MED12_uc004dza.2_Missense_Mutation_p.E751Q|MED12_uc010nla.2_5'Flank	p.E904Q	NM_005120	NP_005111	Q93074	MED12_HUMAN			20	2909	+	Renal(35;0.156)		904					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.2710G>C	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	27.6	4.843922	0.91197	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.89556	0.6749	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.986;0.948;0.998;0.978	D	0.90694	0.4615	10	0.72032	D	0.01	-21.9098	17.2458	0.87027	0.0:0.0:1.0:0.0	.	904;751;904;904	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	Q	904;904;904;904;872	ENSP00000333125:E904Q;ENSP00000363215:E904Q;ENSP00000363193:E904Q;ENSP00000414203:E872Q	ENSP00000333125:E904Q	E	+	1	0	MED12	70263568	1.000000	0.71417	0.987000	0.45799	0.964000	0.63967	8.986000	0.93492	2.252000	0.74401	0.436000	0.28706	GAG		0.542	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		10	102	0	0	0	0	10	102				
NAP1L2	4674	broad.mit.edu	37	X	72433878	72433878	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:72433878T>C	ENST00000373517.3	-	1	806	c.451A>G	c.(451-453)Aga>Gga	p.R151G	NAP1L2_ENST00000536638.1_Missense_Mutation_p.R9G	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	151					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					ATCTGACGTCTTTTTTCCAGT	0.383																																						uc004ebi.2		NA																	0				lung(1)	1						c.(451-453)AGA>GGA		nucleosome assembly protein 1-like 2							176.0	167.0	170.0					X																	72433878		2203	4300	6503	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433878T>C	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.451A>G	X.37:g.72433878T>C	ENSP00000362616:p.Arg151Gly					NAP1L2_uc011mqj.1_Missense_Mutation_p.R9G	p.R151G	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN			1	807	-	Renal(35;0.156)		151					B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.451A>G	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	t	15.81	2.943946	0.53079	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	T;T	0.42131	0.98;0.98	3.11	3.11	0.35812	.	0.000000	0.85682	U	0.000000	T	0.68769	0.3037	M	0.93594	3.435	0.37738	D	0.925518	D	0.62365	0.991	D	0.76071	0.987	T	0.76793	-0.2828	10	0.87932	D	0	-5.1211	8.9367	0.35704	0.0:0.0:0.0:1.0	.	151	Q9ULW6	NP1L2_HUMAN	G	151;9	ENSP00000362616:R151G;ENSP00000441555:R9G	ENSP00000362616:R151G	R	-	1	2	NAP1L2	72350603	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.278000	0.51662	1.457000	0.47850	0.486000	0.48141	AGA		0.383	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		3	205	0	0	0	0	3	205				
MAGEC1	9947	broad.mit.edu	37	X	140996182	140996182	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:140996182C>A	ENST00000285879.4	+	4	3278	c.2992C>A	c.(2992-2994)Cgc>Agc	p.R998S	MAGEC1_ENST00000406005.2_Missense_Mutation_p.R65S	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	998	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCCAGAACCGCCTCCTGAT	0.512										HNSCC(15;0.026)																												uc004fbt.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2992-2994)CGC>AGC		melanoma antigen family C, 1							99.0	90.0	93.0					X																	140996182		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140996182C>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2992C>A	X.37:g.140996182C>A	ENSP00000285879:p.Arg998Ser	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Missense_Mutation_p.R65S	p.R998S	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	3278	+	Acute lymphoblastic leukemia(192;6.56e-05)		998			MAGE.		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2992C>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	c	5.856	0.342179	0.11069	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.04234	3.67;3.67	0.837	-1.67	0.08238	.	.	.	.	.	T	0.01156	0.0038	N	0.00815	-1.16	0.09310	N	1	B	0.33826	0.427	B	0.27262	0.078	T	0.45338	-0.9268	8	0.14656	T	0.56	.	.	.	.	.	998	O60732	MAGC1_HUMAN	S	998;65	ENSP00000285879:R998S;ENSP00000385500:R65S	ENSP00000285879:R998S	R	+	1	0	MAGEC1	140823848	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.505000	0.22642	-0.347000	0.08299	0.279000	0.19357	CGC		0.512	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		20	185	1	0	2.38e-13	2.69e-13	20	185				
FAM3A	60343	broad.mit.edu	37	X	153735817	153735817	+	Silent	SNP	G	G	C			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chrX:153735817G>C	ENST00000447601.2	-	7	856	c.390C>G	c.(388-390)gtC>gtG	p.V130V	FAM3A_ENST00000492763.1_5'Flank|FAM3A_ENST00000393572.1_Silent_p.V92V|FAM3A_ENST00000369643.1_Silent_p.V130V|FAM3A_ENST00000369641.3_Silent_p.V137V|FAM3A_ENST00000359889.5_Silent_p.V130V|FAM3A_ENST00000434658.2_Silent_p.V113V	NM_021806.2	NP_068578.2	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	130						extracellular region (GO:0005576)				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACAGGTCGTTGACATCTGGGG	0.582																																						uc004fls.1		NA																	0				large_intestine(1)	1						c.(388-390)GTC>GTG		family 3, member A protein precursor							43.0	28.0	33.0					X																	153735817		2202	4299	6501	SO:0001819	synonymous_variant	60343					extracellular region		g.chrX:153735817G>C	X74610	CCDS35453.1, CCDS55542.1, CCDS55543.1, CCDS76060.1	Xq28	2008-07-29			ENSG00000071889	ENSG00000071889			13749	protein-coding gene	gene with protein product		300492				8733135, 8281148	Standard	NM_021806		Approved	DXS560S, 2-19, XAP-7	uc004fls.2	P98173	OTTHUMG00000013418	ENST00000447601.2:c.390C>G	X.37:g.153735817G>C						FAM3A_uc004flt.1_Silent_p.V144V|FAM3A_uc011mzp.1_Silent_p.V113V|FAM3A_uc004flu.1_Silent_p.V127V|FAM3A_uc011mzq.1_Silent_p.V130V|FAM3A_uc004flw.1_Silent_p.V130V	p.V130V	NM_021806	NP_068578	P98173	FAM3A_HUMAN			7	667	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		130					A6QRH6|B2RBI7|B4DFI8|D3DWX4|Q5HY76|Q96H51	Silent	SNP	ENST00000447601.2	37	c.390C>G	CCDS35453.1																																																																																				0.582	FAM3A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037362.2			7	31	0	0	0	0	7	31				
CASP5	838	broad.mit.edu	37	11	104879687	104879687	+	Frame_Shift_Del	DEL	T	T	-	rs372526393		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr11:104879687delT	ENST00000260315.3	-	2	27	c.28delA	c.(28-30)aggfs	p.R11fs	CASP5_ENST00000531367.1_Intron|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393141.2_Frame_Shift_Del_p.R24fs			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	11					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTCTTACGCCTTTTTTTTTTG	0.388																																						uc010rva.1		NA																	0				ovary(2)|lung(1)	3						c.(28-30)AGGfs		caspase 5 isoform a precursor			,,,	18,749,3497		0,0,18,1,747,1366	101.0	98.0	99.0		,,,	-1.9	0.0	11		107	8,1495,6751		0,0,8,0,1495,2624	no	codingComplex,codingComplex,intron,intron	CASP5	NM_004347.3,NM_001136112.1,NM_001136110.1,NM_001136109.1	,,,	0,0,26,1,2242,3990	A1A1,A1A2,A1R,A2A2,A2R,RR		18.2094,17.9878,18.1339	,,,	,,,	104879687	26,2244,10248	2201	4299	6500	SO:0001589	frameshift_variant	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104879687delT		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.28delA	11.37:g.104879687delT	ENSP00000260315:p.Arg11fs					CASP5_uc010ruz.1_Frame_Shift_Del_p.R23fs|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	p.R10fs	NM_004347	NP_004338	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	2	60	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	10					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Del	DEL	ENST00000260315.3	37	c.28delA	CCDS8328.2																																																																																				0.388	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		7	86	NA	NA	NA	NA	7	86	---	---	---	---
C12orf42	374470	broad.mit.edu	37	12	103695960	103695960	+	Frame_Shift_Del	DEL	G	G	-	rs185386009		TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr12:103695960delG	ENST00000378113.2	-	6	1234	c.1009delC	c.(1009-1011)cgcfs	p.R337fs	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000548048.1_Frame_Shift_Del_p.R270fs	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	337										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CGGGTTGGGCGGGGGGGTGCT	0.587																																						uc001tjt.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1009-1011)CGCfs		hypothetical protein LOC374470			,	13,3511		2,9,1751	48.0	56.0	54.0		,	0.8	0.2	12		55	19,7773		0,19,3877	no	frameshift,frameshift	C12orf42	NM_198521.2,NM_001099336.1	,	2,28,5628	A1A1,A1R,RR		0.2438,0.3689,0.2828	,	,	103695960	32,11284	1843	4081	5924	SO:0001589	frameshift_variant	374470							g.chr12:103695960delG	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.1009delC	12.37:g.103695960delG	ENSP00000367353:p.Arg337fs					C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Frame_Shift_Del_p.R337fs|C12orf42_uc001tju.2_Frame_Shift_Del_p.R242fs	p.R337fs	NM_198521	NP_940923	Q96LP6	CL042_HUMAN			6	1097	-			337					Q49A64|Q4G0S2	Frame_Shift_Del	DEL	ENST00000378113.2	37	c.1009delC	CCDS44963.1																																																																																				0.587	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		8	173	NA	NA	NA	NA	8	173	---	---	---	---
LUC7L3	51747	broad.mit.edu	37	17	48827881	48827882	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr17:48827881_48827882insA	ENST00000505658.1	+	10	1347_1348	c.1158_1159insA	c.(1159-1161)aaafs	p.K387fs	LUC7L3_ENST00000393227.2_Frame_Shift_Ins_p.K387fs|LUC7L3_ENST00000240304.1_Frame_Shift_Ins_p.K387fs|LUC7L3_ENST00000544170.1_Frame_Shift_Ins_p.K311fs			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	387	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.D386fs*2(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						GATCTGATGATAAAAAAAGTAG	0.356																																						uc002isr.2		NA																	1	Insertion - Frameshift(1)		haematopoietic_and_lymphoid_tissue(1)		0						c.(1156-1161)GATAAAfs		LUC7-like 3																																				SO:0001589	frameshift_variant	51747				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	g.chr17:48827881_48827882insA		CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.1165dupA	17.37:g.48827888_48827888dupA	ENSP00000425092:p.Lys387fs					LUC7L3_uc010wmw.1_Frame_Shift_Ins_p.D310fs|LUC7L3_uc002isq.2_Frame_Shift_Ins_p.D386fs|LUC7L3_uc002iss.2_Frame_Shift_Ins_p.D386fs|uc002ist.1_5'Flank	p.D386fs	NM_006107	NP_006098	O95232	LC7L3_HUMAN			10	1275_1276	+			386_387			Arg/Ser-rich.		B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Frame_Shift_Ins	INS	ENST00000505658.1	37	c.1158_1159insA	CCDS11573.1																																																																																				0.356	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		11	146	NA	NA	NA	NA	11	146	---	---	---	---
KIAA1919	91749	broad.mit.edu	37	6	111587361	111587361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr6:111587361delT	ENST00000368847.4	+	4	949	c.596delT	c.(595-597)attfs	p.I199fs		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	199					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		GTTTCTGTCATTTTTTTTTGT	0.368																																						uc003puv.3		NA																	0				ovary(3)	3						c.(595-597)ATTfs		sodium-dependent glucose transporter 1							70.0	67.0	68.0					6																	111587361		2203	4300	6503	SO:0001589	frameshift_variant	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111587361delT	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.596delT	6.37:g.111587361delT	ENSP00000357840:p.Ile199fs						p.I199fs	NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	4	1018	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	199			Helical; (Potential).		A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Frame_Shift_Del	DEL	ENST00000368847.4	37	c.596delT	CCDS5090.1																																																																																				0.368	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		8	71	NA	NA	NA	NA	8	71	---	---	---	---
HAS2	3037	broad.mit.edu	37	8	122626357	122626358	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-CQ-5331-01A-02D-1870-08	TCGA-CQ-5331-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d2c2d3db-dbc0-44f1-b625-17f3f819c122	9aeca350-ffd8-4c58-a7b9-0bc09da94ca1	g.chr8:122626357_122626358insAA	ENST00000303924.4	-	4	2187_2188	c.1650_1651insTT	c.(1648-1653)cttgatfs	p.D551fs		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	551					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GATCATACATCAAGCACCATGT	0.446																																						uc003yph.2		NA																HAS2/PLAG1(10)	0				soft_tissue(10)|ovary(5)	15						c.(1648-1653)CTTGATfs		hyaluronan synthase 2																																				SO:0001589	frameshift_variant	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122626357_122626358insAA	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1649_1650dupTT	8.37:g.122626358_122626359dupAA	ENSP00000306991:p.Asp551fs						p.L550fs	NM_005328	NP_005319	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	2188_2189	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		550_551			Extracellular (Potential).		Q32MM3	Frame_Shift_Ins	INS	ENST00000303924.4	37	c.1650_1651insTT	CCDS6335.1																																																																																				0.446	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		30	98	NA	NA	NA	NA	30	98	---	---	---	---
